### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM67) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "TMEM67" "transmembrane protein 67" "8" "q22.1" "unknown" "NG_009190.1" "UD_132118725848" "" "https://www.LOVD.nl/TMEM67" "Finnish Disease Database (FinDis) " "1" "28396" "91147" "609884" "1" "1" "1" "1" "alias MKS3, JBTS6, Meckelin, MGC26979, NPHP11\r\nEstablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nWe gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/TMEM67_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2023-11-29 10:29:08" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000140" "TMEM67" "transmembrane protein 67, transcript variant 1" "002" "NM_153704.5" "" "NP_714915.3" "" "" "" "-71" "4655" "2988" "94767072" "94830347" "00002" "2012-05-11 13:12:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00075" "MKS3" "Meckel syndrome, type 3" "AR" "607361" "" "" "" "00015" "2012-11-09 15:01:06" "00006" "2023-11-28 19:41:43" "00076" "COACH" "COACH syndrome" "AR" "216360" "" "" "" "00015" "2012-11-09 15:02:45" "00006" "2021-12-10 21:51:32" "00077" "NPHP11" "nephronophthisis, type 11 (NPHP-11)" "AR" "613550" "" "" "" "00015" "2012-11-09 15:03:49" "00006" "2021-12-10 21:51:32" "00078" "MKS1" "Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)" "AR" "249000" "" "" "" "00015" "2012-11-09 15:11:48" "00006" "2021-12-10 21:51:32" "00089" "BBS1" "Bardet-Biedl syndrome, type 1 (BBS-1)" "AR;DR" "209900" "" "" "" "00015" "2012-11-26 09:02:23" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00934" "JBTS6" "Joubert syndrome, type 6 (JBTS-6)" "AR" "610688" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05419" "RHYNS" "retinitis pigmentosa, hypopituitarism, nephronophthisis and skeletal dysplasia syndrome (RHYNS)" "AR" "602152" "eyes;ears;liver;bones (skeleton)" "" "" "00008" "2018-04-04 16:07:23" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05578" "MKS" "Meckel syndrome (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "00006" "2021-12-10 21:51:32" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{geneid}}" "{{diseaseid}}" "TMEM67" "00075" "TMEM67" "00076" "TMEM67" "00077" "TMEM67" "00089" "TMEM67" "00139" "TMEM67" "00934" "TMEM67" "05109" "TMEM67" "05419" "TMEM67" "05578" ## Individuals ## Do not remove or alter this header ## ## Count = 242 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00028915" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-49 Pat4" "00028949" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-44 Pat19" "00028950" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-48 Pat20" "00028951" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-49 Pat21" "00028952" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-66 Pat22" "00056058" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056059" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056060" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056061" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056062" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092243" "" "" "" "1" "" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/father unknown" "M" "" "United States" "" "0" "" "" "" "" "00155014" "" "" "" "1" "" "02401" "{PMID:Di Rocco 1997:9375913}, {PMID:Brancati 2018:29891882}, {DOI:Brancati 2018:10.1038/s41431-018-0183-6}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "" "FamPatII1" "00225722" "" "" "" "1" "" "00006" "{PMID:Shaheen 2013:23169490}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "23169490-FamMKS_F6" "00265632" "" "" "" "2" "" "02320" "{PMID:Bui 2020:32000717}, {DOI:Bui 2020:10.1186/s12881-020-0962-0}" "2 generation family, patient and fetus, unaffected heterozygous carrier parents" "M" "no" "Viet Nam;(Viet Nam)" "" "0" "yes" "" "Asian" "patient" "00269120" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00269773" "" "" "" "1" "" "00006" "{PMID:Tsurusaki 2013:23034536}" "2-generation family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "Fam3" "00294678" "" "" "" "87" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294680" "" "" "" "137" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294681" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294682" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294684" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305208" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309639" "" "" "" "8" "" "00006" "{PMID:Khan 2016:26854863}" "5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat501" "00309640" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat502" "00309641" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat503" "00309642" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat505" "00309643" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat507" "00309645" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat509" "00318001" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR151" "00319923" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Punjabi" "PKMR61b" "00331580" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "11DG0361" "00331581" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "15DG1322" "00331582" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "12DG0270" "00333394" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD12–02" "00358846" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam3" "00358854" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam12" "00358857" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam15" "00358860" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam18" "00358864" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam24" "00358866" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam27" "00358868" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "Fam30" "00363564" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "FamHSJ-JBTS-clin1PatHSJ-JBTS-1" "00372343" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW005-3" "00372344" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW030-3" "00372345" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW051-3" "00372346" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW053-3" "00372347" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW053-4" "00372348" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW054-3" "00372349" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW055-3" "00372350" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW055-4" "00372351" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW056-3" "00372352" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW057-3" "00372353" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW060-3" "00372354" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW061-3" "00372355" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW063-3" "00372356" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW064-3" "00372357" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW065-3" "00372358" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW072-3" "00372359" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW073-3" "00372360" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW083-3" "00372361" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW083-4" "00372362" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW084-3" "00372363" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW085-1" "00372364" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW085-2" "00372365" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW085-3" "00372366" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW086-3" "00372367" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW285-3" "00372368" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW298-3" "00372369" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW310-3" "00372370" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW313-3" "00372379" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW058-3" "00372380" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW059-3" "00372381" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW062-3" "00372382" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW069-3" "00372384" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "control" "" "" "" "" "0" "" "" "" "ND11622" "00373382" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-45" "00373386" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-57" "00373387" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-59" "00373882" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-314-749" "00377600" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 1" "M" "" "United States" "" "0" "" "" "" "361" "00377601" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 2" "F" "" "United States" "" "0" "" "" "" "545" "00377602" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 5" "F" "" "United States" "" "0" "" "" "" "216" "00377603" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 4" "M" "" "United States" "" "0" "" "" "" "548" "00377604" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 6" "M" "" "United States" "" "0" "" "" "" "302" "00377605" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 7" "F" "" "United States" "" "0" "" "" "" "271" "00377606" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 8" "M" "" "United States" "" "0" "" "" "" "557" "00377607" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 3" "M" "" "United States" "" "0" "" "" "" "97" "00377608" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 9" "F" "" "United States" "" "0" "" "" "" "459" "00377609" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 10" "M" "" "United States" "" "0" "" "" "" "238" "00377610" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 11" "M" "" "United States" "" "0" "" "" "" "255" "00377611" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 7" "M" "" "United States" "" "0" "" "" "" "272" "00377612" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 6" "M" "" "United States" "" "0" "" "" "" "301" "00377613" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 12" "F" "" "United States" "" "0" "" "" "" "542" "00377614" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 14" "F" "" "United States" "" "0" "" "" "" "252" "00377615" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 13" "F" "" "United States" "" "0" "" "" "" "303" "00377616" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 8" "M" "" "United States" "" "0" "" "" "" "559" "00377617" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 15" "M" "" "United States" "" "0" "" "" "" "309" "00377618" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 16" "M" "" "United States" "" "0" "" "" "" "562" "00377619" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 16" "M" "" "United States" "" "0" "" "" "" "561" "00377620" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 16" "M" "" "United States" "" "0" "" "" "" "560" "00377621" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 17" "F" "" "United States" "" "0" "" "" "" "432" "00377748" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "heterozygous mutation identified in father" "" "" "Germany" "" "0" "" "" "" "" "00377761" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377762" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "heterozygous mutation identified in mother" "" "" "Germany" "" "0" "" "" "" "" "00377763" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377764" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377765" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "heterozygous mutation identified in mother" "" "" "Germany" "" "0" "" "" "" "" "00377766" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "heterozygous mutation identified in father" "" "" "United States" "" "0" "" "" "" "" "00377767" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377768" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377769" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377770" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00377783" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377784" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "" "" "0" "" "" "" "" "00377785" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "yes" "Italy" "" "0" "" "" "" "" "00377786" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "Turkey" "" "0" "" "" "" "" "00377787" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "Egypt" "" "0" "" "" "" "" "00377956" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "false positive, not found by Sanger" "" "" "" "" "0" "" "" "" "" "00383206" "" "" "" "1" "" "00000" "{PMID:Leitch-2008:18327255}" "" "M" "" "" "" "0" "" "" "" "" "00383207" "" "" "" "1" "" "00000" "{PMID:Leitch-2008:18327255}" "" "F" "yes" "" "" "0" "" "" "Saudi Arabian" "" "00385229" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00387534" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "M" "yes" "" "" "0" "" "" "" "" "00387538" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "F" "yes" "" "" "0" "" "" "" "" "00387557" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387558" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387559" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387560" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387561" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387562" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387563" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387564" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387565" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387566" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387567" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387568" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387569" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "" "" "" "" "0" "" "" "" "" "00387570" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "detected heterozygous state in one patient without further clearly pathogenic mutations" "" "" "" "" "0" "" "" "" "" "00387609" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "" "" "" "" "" "0" "" "" "" "" "00387610" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Otto EA, 2009. Consugar MB, 2007." "" "" "" "" "0" "" "" "" "" "00387611" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Iannicelli M, 2010" "" "" "" "" "0" "" "" "" "" "00387612" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Consugar MB, 2007. Tallila J, 2009" "" "" "" "" "0" "" "" "" "" "00387613" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Iannicelli M,2010. Khaddour R,2007. Doherty D,2010" "" "" "" "" "0" "" "" "" "" "00387822" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700148" "00387832" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800082" "00388025" "" "" "" "1" "" "00000" "{PMID:Enokizono 2017:28431631}" "" "M" "" "Japan" "" "0" "" "" "" "9" "00388065" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "97" "00388067" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "216" "00388069" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "238" "00388070" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "271" "00388071" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "272" "00388072" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "301" "00388073" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "302" "00388074" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "303" "00388075" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "309" "00388086" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "432" "00388094" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "459" "00388122" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "542" "00388123" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "545" "00388124" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "548" "00388126" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "557" "00388127" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "559" "00388128" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "560" "00388129" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "561" "00388130" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "562" "00391598" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "061P" "00395593" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2001" "00395602" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2394" "00399821" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1014" "00407654" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-55" "00407659" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-61" "00407660" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-63" "00407672" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-4" "00420341" "" "" "" "1" "" "00000" "{PMID:Barabino 2020:32160518}" "an experiment involving cell line derived from patient" "" "" "" "" "0" "" "" "" "MKS01" "00436837" "" "" "" "1" "" "04580" "Kim 2023 submitted" "" "M" "?" "Korea, South (Republic)" ">28y" "0" "" "" "Asian" "20873497" "00443492" "" "" "" "1" "" "00006" "{PMID:Tallila 2008:19466712}" "" "" "" "" "" "0" "" "" "Europe" "UM1" "00443494" "" "" "" "1" "" "00006" "{PMID:Tallila 2008:19466712}" "" "" "" "" "" "0" "" "" "Europe" "UM2" "00443495" "" "" "" "1" "" "00006" "{PMID:Tallila 2008:19466712}" "" "" "" "" "" "0" "" "" "Europe" "UM4" "00443496" "" "" "" "1" "" "00006" "{PMID:Tallila 2008:19466712}" "" "" "" "" "" "0" "" "" "Europe" "UM5" "00443523" "" "" "" "1" "" "00006" "{PMID:Smith 2006:16415887}" "4-generation family, 1 affected fetus, unaffected heterozygous parents/relatives" "" "yes" "Oman" "<00y00m00d" "0" "" "" "" "Fam125PatIV1" "00443524" "" "" "" "2" "" "00006" "{PMID:Smith 2006:16415887}" "4-generation family, 2 affected fetuses, unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "<00y00m00d" "0" "" "" "" "Fam67FPatIV1/2" "00443525" "" "" "" "1" "" "00006" "{PMID:Smith 2006:16415887}" "4-generation family, 1 affected fetus" "" "yes" "Pakistan" "<00y00m00d" "0" "" "" "" "Fam73PatIV1" "00443526" "" "" "" "1" "" "00006" "{PMID:Smith 2006:16415887}" "4-generation family, 1 affected fetus" "" "yes" "Pakistan" "<00y00m00d" "0" "" "" "" "Fam40TPatIV2" "00443527" "" "" "" "2" "" "00006" "{PMID:Smith 2006:16415887}" "4-generation family, 2 affected fetuses, unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "<00y00m00d" "0" "" "" "" "Fam29APatIV1" "00443528" "" "" "00443527" "1" "" "00006" "{PMID:Smith 2006:16415887}" "2nd fetus" "" "yes" "Pakistan" "<00y00m00d" "0" "" "" "" "Fam33APatIV5" "00443529" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "affected fetus" "" "" "Morocco" "<0d" "0" "" "" "" "Fam1Pat342" "00443530" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "2 affected fetuses" "" "" "France" "<0d" "0" "" "" "" "Fam2Pat472/473" "00443531" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "2 affected fetuses" "" "" "Palestine" "<0d" "0" "" "" "" "Fam3Pat502/503" "00443532" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "2 affected fetuses" "" "" "Ireland;Scotland" "<0d" "0" "" "" "" "Fam4Pat610/611" "00443533" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "affected fetus" "" "" "France" "<0d" "0" "" "" "" "Fam5Pat916" "00443534" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "affected fetus" "" "" "Cote D\'Ivoire (Ivory Coast)" "<0d" "0" "" "" "" "Fam6Pat738" "00443535" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "affected fetus" "" "" "Pakistan" "<0d" "0" "" "" "Mirpuri" "Fam7Pat70" "00443536" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "affected newborn, affected fetus" "" "" "Pakistan" "" "0" "" "" "Mirpuri" "Fam8Pat54A/76" "00443537" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "affected newborn" "" "" "Pakistan" "" "0" "" "" "" "Fam9Pat49" "00443538" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00443539" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Senegal" "" "0" "" "" "" "" "00443540" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Lebanon" "" "0" "" "" "" "" "00443541" "" "" "" "6" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443542" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Senegal;Pakistan" "" "0" "" "" "" "" "00443543" "" "" "" "4" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443544" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Senegal;France" "" "0" "" "" "" "" "00443545" "" "" "" "123" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443546" "" "" "" "7" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443547" "" "" "" "2" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Mauritania;Pakistan" "" "0" "" "" "" "" "00443548" "" "" "" "4" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443549" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00443550" "" "" "" "8" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443551" "" "" "" "6" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443552" "" "" "" "136" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443553" "" "" "" "13" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443554" "" "" "" "5" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "" "" "0" "" "" "" "" "00443555" "" "" "" "1" "" "00006" "{PMID:Khaddour 2007:17397051}" "" "" "" "Morocco" "" "0" "" "" "" "" "00443587" "" "" "" "3" "" "00006" "{PMID:Consugar 2007:17377820}" "family, 3 affected fetuses" "" "" "United States" "<0d" "0" "" "" "Sweden;Germany" "M329" "00443588" "" "" "" "2" "" "00006" "{PMID:Consugar 2007:17377820}" "family, 2 affected fetuses" "" "" "United States" "<0d" "0" "" "" "French Canadian;United Kingdom (Great Britain);Ireland" "M360" "00443589" "" "" "" "5" "" "00006" "{PMID:Consugar 2007:17377820}" "family, 5 affected fetuses" "" "" "United States" "<0d" "0" "" "" "Germany;Sweden;United Kingdom (Great Britain);Ireland" "M361" "00443590" "" "" "" "1" "" "00006" "{PMID:Consugar 2007:17377820}" "family, 1 affected fetus" "" "" "United States" "<0d" "0" "" "" "Germany;Poland" "M376" "00443591" "" "" "" "2" "" "00006" "{PMID:Consugar 2007:17377820}" "family, 2 affected fetuses" "" "" "United States" "<0d" "0" "" "" "Netherlands" "68408" "00443630" "" "" "" "2" "" "00006" "{PMID:Iannicelli 2010:20232449}" "family, 2 affected sibs" "M" "" "Italy" "" "0" "" "" "" "COR47PatNG1604" "00443631" "" "" "00443630" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "sib" "F" "" "Italy" "" "0" "" "" "" "COR47PatNG2001" "00443632" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "" "M" "" "Italy" "" "0" "" "" "" "COR113PatNG2016" "00443633" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "F" "" "Sweden" "" "0" "" "" "" "COR143PatNG2038" "00443634" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "" "F" "" "Italy" "" "0" "" "" "" "COR212PatNG2358" "00443635" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "" "M" "" "Italy" "" "0" "" "" "" "COR240PatNG2367" "00443636" "" "" "" "2" "" "00006" "{PMID:Iannicelli 2010:20232449}" "family, 2 affected sibs" "M" "" "Italy" "" "0" "" "" "" "COR265PatNG2511" "00443637" "" "" "00443636" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "sib" "F" "" "Germany" "" "0" "" "" "" "COR266PatNG2515" "00443638" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "" "M" "" "Germany" "" "0" "" "" "" "COR254PatNG2466" "00443639" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "" "" "United States" "<0d" "0" "" "" "" "DEGPat772" "00443640" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "F" "" "France" "<0d" "0" "" "" "" "CHAPat800" "00443641" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "F" "" "France" "<0d" "0" "" "" "" "LEFPat812" "00443642" "" "" "" "2" "" "00006" "{PMID:Iannicelli 2010:20232449}" "family, 2 affected fetuses" "F" "" "Italy" "<0d" "0" "" "" "" "BAIPat922" "00443643" "" "" "00443642" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "2nd fetus" "F" "" "Italy" "<0d" "0" "" "" "" "BAIPat923" "00443644" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "?" "" "France" "<0d" "0" "" "" "" "MARPat960" "00443645" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "F" "" "France" "<0d" "0" "" "" "" "DEBPat965" "00443646" "" "" "" "2" "" "00006" "{PMID:Iannicelli 2010:20232449}" "family, 2 affected sibs" "M" "" "Senegal" "<0d" "0" "" "" "" "FOFPat1007" "00443647" "" "" "00443646" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "sib" "M" "" "Senegal" "<0d" "0" "" "" "" "FOFPat1008" "00443648" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "F" "" "" "<0d" "0" "" "" "" "SAHPat1044" "00443649" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "F" "" "Algeria" "<0d" "0" "" "" "" "TAMPat1077" "00443650" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "M" "" "Morocco" "" "0" "" "" "" "ELOPat1088" "00443651" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "" "" "France" "" "0" "" "" "" "COR141PatNG2405" "00443652" "" "" "" "1" "" "00006" "{PMID:Iannicelli 2010:20232449}" "affected fetus" "" "" "Italy" "<0d" "0" "" "" "" "COR238PatNG2357" "00462303" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGE-001" "00462304" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGE-030" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 241 "{{individualid}}" "{{diseaseid}}" "00028915" "00002" "00028949" "00002" "00028950" "00002" "00028951" "00002" "00028952" "00002" "00056058" "00078" "00056059" "00078" "00056060" "00078" "00056061" "00078" "00056062" "00078" "00092243" "00075" "00155014" "05419" "00225722" "05578" "00265632" "00002" "00269120" "00198" "00269773" "05109" "00294678" "00198" "00294680" "00198" "00294681" "00198" "00294682" "00198" "00294684" "00198" "00305208" "00198" "00309639" "04214" "00309640" "04214" "00309641" "04214" "00309642" "04214" "00309643" "04214" "00309645" "04214" "00318001" "00139" "00319923" "00139" "00331580" "05517" "00331581" "05517" "00331582" "05517" "00333394" "04214" "00358846" "05109" "00358854" "05109" "00358857" "05109" "00358860" "05109" "00358864" "05109" "00358866" "05109" "00358868" "05109" "00363564" "05109" "00372343" "05109" "00372344" "05109" "00372345" "05109" "00372346" "05109" "00372347" "05109" "00372348" "05109" "00372349" "05109" "00372350" "05109" "00372351" "05109" "00372352" "05109" "00372353" "05109" "00372354" "05109" "00372355" "05109" "00372356" "05109" "00372357" "05109" "00372358" "05109" "00372359" "05109" "00372360" "05109" "00372361" "05109" "00372362" "05109" "00372363" "05109" "00372364" "05109" "00372365" "05109" "00372366" "05109" "00372367" "05109" "00372368" "05109" "00372369" "05109" "00372370" "05109" "00372379" "05109" "00372380" "05109" "00372381" "05109" "00372382" "05109" "00372384" "00000" "00373382" "04214" "00373386" "04214" "00373387" "04214" "00373882" "04214" "00377600" "04214" "00377601" "04214" "00377602" "04214" "00377603" "04214" "00377604" "04214" "00377605" "04214" "00377606" "04214" "00377607" "04214" "00377608" "04214" "00377609" "04214" "00377610" "04214" "00377611" "04214" "00377612" "04214" "00377613" "04214" "00377614" "04214" "00377615" "04214" "00377616" "04214" "00377617" "04214" "00377618" "04214" "00377619" "04214" "00377620" "04214" "00377621" "04214" "00377748" "04214" "00377761" "04214" "00377762" "04214" "00377763" "04214" "00377764" "04214" "00377765" "04214" "00377766" "04214" "00377767" "04214" "00377768" "04214" "00377769" "04214" "00377770" "04214" "00377783" "04214" "00377784" "04214" "00377785" "04214" "00377786" "04214" "00377787" "04214" "00377956" "04214" "00383206" "04214" "00383207" "04214" "00385229" "04214" "00387534" "04214" "00387538" "04214" "00387557" "04214" "00387558" "04214" "00387559" "04214" "00387560" "04214" "00387561" "04214" "00387562" "04214" "00387563" "04214" "00387564" "04214" "00387565" "04214" "00387566" "04214" "00387567" "04214" "00387568" "04214" "00387569" "04214" "00387570" "04214" "00387609" "04214" "00387610" "04214" "00387611" "04214" "00387612" "04214" "00387613" "04214" "00387822" "00139" "00387832" "00139" "00388025" "04214" "00388065" "04214" "00388067" "04214" "00388069" "04214" "00388070" "04214" "00388071" "04214" "00388072" "04214" "00388073" "04214" "00388074" "04214" "00388075" "04214" "00388086" "04214" "00388094" "04214" "00388122" "04214" "00388123" "04214" "00388124" "04214" "00388126" "04214" "00388127" "04214" "00388128" "04214" "00388129" "04214" "00388130" "04214" "00391598" "00198" "00395593" "04214" "00395602" "04214" "00399821" "06892" "00407654" "04214" "00407659" "04214" "00407660" "04214" "00407672" "04214" "00420341" "04212" "00436837" "00934" "00443492" "05578" "00443494" "05578" "00443495" "05578" "00443496" "05578" "00443523" "05578" "00443524" "05578" "00443525" "05578" "00443526" "05578" "00443527" "05578" "00443528" "05578" "00443529" "05578" "00443530" "05578" "00443531" "05578" "00443532" "05578" "00443533" "05578" "00443534" "05578" "00443535" "05578" "00443536" "05578" "00443537" "05578" "00443538" "00000" "00443539" "00000" "00443540" "00000" "00443541" "00000" "00443542" "00000" "00443543" "00000" "00443544" "00000" "00443545" "00000" "00443546" "00000" "00443547" "00000" "00443548" "00000" "00443549" "00000" "00443550" "00000" "00443551" "00000" "00443552" "00000" "00443553" "00000" "00443554" "00000" "00443555" "00000" "00443587" "05578" "00443588" "05578" "00443589" "05578" "00443590" "05578" "00443591" "05578" "00443630" "05109" "00443631" "05109" "00443632" "05109" "00443633" "05109" "00443634" "05109" "00443635" "05109" "00443636" "05109" "00443637" "05109" "00443638" "05109" "00443639" "05578" "00443640" "05578" "00443641" "05578" "00443642" "05578" "00443643" "05578" "00443644" "05578" "00443645" "05578" "00443646" "05578" "00443647" "05578" "00443648" "05578" "00443649" "05578" "00443650" "05578" "00443651" "05578" "00443652" "05578" "00462303" "00198" "00462304" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00075, 00076, 00077, 00078, 00089, 00139, 00198, 00934, 04212, 04214, 05109, 05419, 05517, 05578, 06892 ## Count = 214 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025011" "00002" "00028915" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025024" "00002" "00028949" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025025" "00002" "00028950" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025026" "00002" "00028951" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025027" "00002" "00028952" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043078" "00078" "00056058" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043079" "00078" "00056059" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043080" "00078" "00056060" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043081" "00078" "00056061" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043082" "00078" "00056062" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000070577" "00075" "00092243" "00006" "Familial, autosomal recessive" "" "mild IDD, adolescent-onset dementia, vertical gaze palsy, ataxia, ADHD, cerebellar atrophy at age 8y (molar tooth sign at age 22y, after diagnosis established), hepatosplenomegaly,progressive hepatic fibrosis, portal hypertension,; lysosomal storage disease phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000170831" "05578" "00225722" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MKS-3" "Meckel-Gruber syndrome" "" "0000186693" "05419" "00155014" "00006" "Familial, autosomal recessive" "38y" "see paper; ..." "" "" "" "" "" "" "" "" "RHYNS" "" "" "0000203419" "00002" "00265632" "02320" "Familial, autosomal recessive" "10y" "HP:0001263\r\nHP:0001251\r\nHP:0001249\r\nHP:0002553\r\nHP:0000508\r\nHP:0000657\r\nHP:0002793\r\nHP:0001252\r\nHP:0001320\r\nHP:0100951\r\nHP:0002419\r\nHP:0000007" "02y" "10y" "" "" "" "" "" "" "Joubert syndrome" "Cerebral palsy" "" "0000206965" "00198" "00269120" "01164" "Unknown" "" "Enlarged kidneys (HP:0000105); Abnormality of the myocardium (HP:0001637); Tricuspid atresia (HP:0011662); Oligohydramnios (HP:0001562); Encephalocele (HP:0002084)" "" "" "" "" "" "" "" "" "" "" "" "0000207577" "05109" "00269773" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "JBTS-6" "Joubert syndrome" "" "0000234958" "04214" "00309639" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234959" "04214" "00309640" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234960" "04214" "00309641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234961" "04214" "00309642" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234962" "04214" "00309643" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234964" "04214" "00309645" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000241785" "00139" "00318001" "00006" "Familial, autosomal recessive" "" "Severe ID, speech delay. epilepsy, motor weakness" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242025" "00139" "00319923" "00006" "Familial, autosomal recessive" "" "intellectual disability, physically weak, deafness and speech problem" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000249772" "05517" "00331580" "00000" "Familial, autosomal recessive" "" "Microcephaly, Occipital encephalocele, Pulmonary hypoplasia, Polycystic kidney dysplasia Yes" "" "" "" "" "" "" "" "" "Polydactyly-Syndactyly-Triphalangism group" "skeletal dysplasia" "" "0000249773" "05517" "00331581" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Hearing impairment, Molar tooth sign on MRI" "" "" "" "" "" "" "" "" "Polydactyly-Syndactyly-Triphalangism group" "skeletal dysplasia" "" "0000249774" "05517" "00331582" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Generalized hypotonia, Nystagmus, Visual impairment, Brea No" "" "" "" "" "" "" "" "" "Polydactyly-Syndactyly-Triphalangism group" "skeletal dysplasia" "" "0000251581" "04214" "00333394" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000254104" "05109" "00358846" "00000" "Familial, autosomal recessive" "" "mild intellectual disability; mild developmental delay; retina problems; no coloboma; kidney problems; liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254112" "05109" "00358854" "00000" "Familial, autosomal recessive" "" "moderate intellectual disability; moderate developmental delay; hypotonia; no retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254115" "05109" "00358857" "00000" "Familial, autosomal recessive" "" "moderate intellectual disability; moderate developmental delay; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254118" "05109" "00358860" "00000" "Familial, autosomal recessive" "" "severe intellectual disability; severe developmental delay; hypotonia,ataxia; no retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254122" "05109" "00358864" "00000" "Familial, autosomal recessive" "" "moderate intellectual disability; severe developmental delay; hypotonia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254124" "05109" "00358866" "00000" "Familial, autosomal recessive" "" "severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254126" "05109" "00358868" "00000" "Familial, autosomal recessive" "" "severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258914" "05109" "00363564" "00000" "Familial, autosomal recessive" "3y6m" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267664" "05109" "00372343" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267665" "05109" "00372344" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267666" "05109" "00372345" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267667" "05109" "00372346" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267668" "05109" "00372347" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267669" "05109" "00372348" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267670" "05109" "00372349" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267671" "05109" "00372350" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267672" "05109" "00372351" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267673" "05109" "00372352" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267674" "05109" "00372353" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267675" "05109" "00372354" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267676" "05109" "00372355" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267677" "05109" "00372356" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267678" "05109" "00372357" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267679" "05109" "00372358" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267680" "05109" "00372359" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267681" "05109" "00372360" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267682" "05109" "00372361" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267683" "05109" "00372362" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267684" "05109" "00372363" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267685" "05109" "00372364" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267686" "05109" "00372365" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267687" "05109" "00372366" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267688" "05109" "00372367" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267689" "05109" "00372368" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267690" "05109" "00372369" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267691" "05109" "00372370" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267700" "05109" "00372379" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267701" "05109" "00372380" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267702" "05109" "00372381" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267703" "05109" "00372382" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268658" "04214" "00373382" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268662" "04214" "00373386" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268663" "04214" "00373387" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000269091" "04214" "00373882" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000272752" "04214" "00377600" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, strabismus, ptosis, coloboma - retina, optic nerve" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272753" "04214" "00377601" "00000" "Familial, autosomal recessive" "" "liver disease, ptosis" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272754" "04214" "00377602" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, strabismus, coloboma - retina, retinal degeneration" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272755" "04214" "00377603" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, optic nerve" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272756" "04214" "00377604" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272757" "04214" "00377605" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, strabismus, retinal degeneration, vessel attenuation, optic nerve atrophy" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272758" "04214" "00377606" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, strabismus, ptosis, coloboma - retina, retinal degeneration" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272759" "04214" "00377607" "00000" "Familial, autosomal recessive" "" "kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina, optic nerve, optic nerve atrophy" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272760" "04214" "00377608" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, strabismus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272761" "04214" "00377609" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272762" "04214" "00377610" "00000" "Familial, autosomal recessive" "" "liver disease, strabismus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272763" "04214" "00377611" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, strabismus, vessel attenuation, optic nerve atrophy" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272764" "04214" "00377612" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272765" "04214" "00377613" "00000" "Familial, autosomal recessive" "" "liver disease, nystagmus, strabismus, ptosis, coloboma - retina, retinal degeneration" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272766" "04214" "00377614" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, strabismus, coloboma - optic nerve, vessel attenuation" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272767" "04214" "00377615" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina, optic nerve" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272768" "04214" "00377616" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, nystagmus, strabismus, ptosis, coloboma - retina, retinal degeneration" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272769" "04214" "00377617" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, retinal degeneration" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272770" "04214" "00377618" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272771" "04214" "00377619" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, ptosis, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272772" "04214" "00377620" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272773" "04214" "00377621" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272894" "04214" "00377748" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000272907" "04214" "00377761" "00000" "Familial" "" "polydactyly,microcephaly, retinal dystrophy,cerebellar vermis aplasia." "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272908" "04214" "00377762" "00000" "Familial" "" "retinal dystrophy,cerebellar vermis aplasia, mental retardation" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272909" "04214" "00377763" "00000" "Familial" "" "ataxia, mental retardation" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272910" "04214" "00377764" "00000" "Familial" "" "mental retardation" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272911" "04214" "00377765" "00000" "Familial" "" "cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272912" "04214" "00377766" "00000" "Familial" "" "hepatic fibrosis, biliary ductal,proliferation hearing loss, cerebellar vermis hypoplasia, ataxia, mental retardation." "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272913" "04214" "00377767" "00000" "Familial" "" "mental retardation" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272914" "04214" "00377768" "00000" "Familial" "" "aortic stenosis, cerebellar vermis hypoplasia, mental retardation." "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272915" "04214" "00377769" "00000" "Familial" "" "cerebellar vermis hypoplasia, mental retardation, ataxia." "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272916" "04214" "00377770" "00000" "Familial" "" "epilepsy, mental retardation, molar tooth sign" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272929" "04214" "00377783" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272930" "04214" "00377784" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272931" "04214" "00377785" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000272932" "04214" "00377786" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272933" "04214" "00377787" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000273102" "04214" "00377956" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276993" "04214" "00383206" "00000" "Familial, autosomal recessive" "5y" "retinitis pigmentosa, severe obesity, polydactyly, mental retardation, renal disease, developmental delayDA," "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276994" "04214" "00383207" "00000" "Familial, autosomal recessive" "11y" "retinitis pigmentosa, obesity, mental retardation, renal disease, developmental delayNs" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279025" "04214" "00385229" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000281097" "04214" "00387534" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281101" "04214" "00387538" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281120" "04214" "00387557" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281121" "04214" "00387558" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281122" "04214" "00387559" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281123" "04214" "00387560" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281124" "04214" "00387561" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281125" "04214" "00387562" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281126" "04214" "00387563" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281127" "04214" "00387564" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281128" "04214" "00387565" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281129" "04214" "00387566" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281130" "04214" "00387567" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281131" "04214" "00387568" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281132" "04214" "00387569" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281133" "04214" "00387570" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "0000281172" "04214" "00387609" "00000" "Familial" "" "" "11y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281173" "04214" "00387610" "00000" "Familial" "" "" "12y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281174" "04214" "00387611" "00000" "Familial" "" "" "13y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281175" "04214" "00387612" "00000" "Familial" "" "" "14y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281176" "04214" "00387613" "00000" "Familial" "" "" "15y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281390" "00139" "00387822" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281400" "00139" "00387832" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281620" "04214" "00388025" "00000" "Familial, autosomal recessive" "" "Hypotonia/ataxia, developmental delay/mental retardation, coloboma, retinitis pigmentosa, polycystic kidney congenital biliary, dilatation, hepatic ?brosis" "6y" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281659" "04214" "00388065" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281661" "04214" "00388067" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281663" "04214" "00388069" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281664" "04214" "00388070" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281665" "04214" "00388071" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281666" "04214" "00388072" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281667" "04214" "00388073" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281668" "04214" "00388074" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281669" "04214" "00388075" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281680" "04214" "00388086" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281688" "04214" "00388094" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281716" "04214" "00388122" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281717" "04214" "00388123" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281718" "04214" "00388124" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281720" "04214" "00388126" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281721" "04214" "00388127" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281722" "04214" "00388128" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281723" "04214" "00388129" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281724" "04214" "00388130" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000288791" "04214" "00395593" "00000" "Isolated (sporadic)" "" "astigmatism, optic nerve coloboma, nystagmus, unilateral strabismus, bilateral sensorineural hearing impairment, recurrent otitis media, abnormality of the cerebellar peduncle, agenesis of cerebelar vermis, delayed myelination, molar tooth sign on mri, global developmental delay, generalized hypotonia" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000288800" "04214" "00395602" "00000" "Isolated (sporadic)" "" "congenital blindness, exotropia, oculomotor apraxia, optic atrophy, lactic acidosis, aplasia/hypoplasia of the cerebellum, cerebellar atrophy, hyperreflexia, hypsarrhythmia, intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "Joubert-like syndrome" "" "0000299801" "04214" "00407654" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 6.8, extra-renal manifestations: retinal dystrophy, cerebellar vermis aplasia, mental retardation, cerebral palsy, hepatic fibrosis" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299806" "04214" "00407659" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 14.4, extra-renal manifestations: optic nerve anomaly, retinal dystrophy, cerebellar vermis hypoplasia, mental retardation, hepatic fibrosis, choledochal cyst" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299807" "04214" "00407660" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 6, extra-renal manifestations: oculomotor apraxia, optic nerve anomaly, cerebellar vermis aplasia, mental retardation, hepatic fibrosis, choledochal cyst" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299819" "04214" "00407672" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 11.8, extra-renal manifestations: apraxia, mental retardation, cerebellar vermis aplasia, Caroli disease, choledochal cyst" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000311609" "04212" "00420341" "00000" "Familial, autosomal recessive" "" "smaller but supernumerary cilia and present abnormal accumulations of ciliary proteins" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "" "0000326920" "00934" "00436837" "04580" "Unknown" "28y?" "HP:0001252\r\nHP:0001251\r\nHP:0011933\r\nHP:0000657\r\nHP:0001249" "?" "28y" "" "" "" "" "" "" "Joubert syndrome 6 (OMIM: 610688)" "Hereditary neuropathy" "" "0000332826" "05578" "00443492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332827" "05578" "00443494" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332828" "05578" "00443495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332829" "05578" "00443496" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332857" "05578" "00443523" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele; Dandy-Walker cyst; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); upper limb post-axial polydactyly (left hand)" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332858" "05578" "00443524" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); midline cleft palate" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332859" "05578" "00443525" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation)" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332860" "05578" "00443526" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); midline cleft palate; epididymal cysts" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332861" "05578" "00443527" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation)" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332862" "05578" "00443528" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); upper limb post-axial polydactyly (left/right hand)" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332863" "05578" "00443529" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332864" "05578" "00443530" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332865" "05578" "00443531" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332866" "05578" "00443532" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332867" "05578" "00443533" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332868" "05578" "00443534" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332869" "05578" "00443535" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332870" "05578" "00443536" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332871" "05578" "00443537" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332892" "05578" "00443587" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332893" "05578" "00443588" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332894" "05578" "00443589" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332895" "05578" "00443590" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332896" "05578" "00443591" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..." "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332940" "05578" "00443639" "00006" "Familial, autosomal recessive" "<0d" "21wg encephalomeningocele; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332941" "05578" "00443640" "00006" "Familial, autosomal recessive" "<0d" "24wg cerebellar vermis agenesis; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332942" "05578" "00443641" "00006" "Familial, autosomal recessive" "<0d" "26wg encephalomeningocele; cystic kidneys; bile duct proliferation; bicornate uterus" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332943" "05578" "00443642" "00006" "Familial, autosomal recessive" "<0d" "20wg Dandy-Walker malformation; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332944" "05578" "00443643" "00006" "Familial, autosomal recessive" "<0d" "17wg cerebellar vermis agenesis; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332945" "05578" "00443644" "00006" "Familial, autosomal recessive" "<0d" "14 wg encephalomeningocele; cystic kidneys; bile duct proliferation; cleft palate, intra-uterine growth retardation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332946" "05578" "00443645" "00006" "Familial, autosomal recessive" "<0d" "19 wg polymicrogyria, cerebellar vermis agenesis, hydrocephalus; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332947" "05578" "00443646" "00006" "Familial, autosomal recessive" "<0d" "16wg Dandy-Walker malformation; cystic kidneys; no bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332948" "05578" "00443647" "00006" "Familial, autosomal recessive" "<0d" "13wg Dandy-Walker malformation; cystic kidneys; no bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332949" "05578" "00443648" "00006" "Familial, autosomal recessive" "<0d" "26wg encephalomeningocele, Dandy-Walker malformation, corpus callosum hypo/aplasia; cystic kidneys; bile duct proliferation; vaginal septum" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332950" "05578" "00443649" "00006" "Familial, autosomal recessive" "<0d" "13wg encephalomeningocele; cystic kidneys; bile duct proliferation; tetralogy of Fallot" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332951" "05578" "00443650" "00006" "Familial, autosomal recessive" "" "encephalomeningocele, cerebellar vermis agenesis; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332952" "05578" "00443651" "00006" "Familial, autosomal recessive" "" "encephalomeningocele; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332953" "05578" "00443652" "00006" "Familial, autosomal recessive" "<0d" "21wg encephalomeningocele, Dandy-Walker malformation, corpus callosum hypo/aplasia; cystic kidneys; bile duct proliferation" "" "" "" "" "" "" "" "" "MKS3" "Meckel syndrome" "" "0000332967" "05109" "00443630" "00006" "Familial, autosomal recessive" "8y" "molar tooth sign, enlarged ventricles; chorioretinal colobomas; 8y-no kidney anomalies; elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332968" "05109" "00443631" "00006" "Familial, autosomal recessive" "4y" "molar tooth sign; optic nerve hypoplasia; 4y-no kidney anomalies; elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332969" "05109" "00443632" "00006" "Familial, autosomal recessive" "3y" "molar tooth sign; chorioretinal colobomas (left eye); 3y-no kidney anomalies; liver imaging consistent with ductal plate malformation" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332970" "05109" "00443633" "00006" "Familial, autosomal recessive" "1y" "molar tooth sign; chorioretinal colobomas; urinary concentration defect; elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332971" "05109" "00443634" "00006" "Familial, autosomal recessive" "15y" "molar tooth sign; chorioretinal colobomas; cysts, 6m-chronic renal insufficiency; hepatosplenomegaly, elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332972" "05109" "00443635" "00006" "Familial, autosomal recessive" "5y" "molar tooth sign; no eye anomalies; 5y-no kidney anomalies; hepatosplenomegaly, elevated liver enzymes, liver imaging consistent with ductal plate malformation" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332973" "05109" "00443636" "00006" "Familial, autosomal recessive" "23y" "molar tooth sign; chorioretinal colobomas (left eye); 23y-no kidney anomalies; congenital hepatic fibrosis; polydactyly 4 limbs" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332974" "05109" "00443637" "00006" "Familial, autosomal recessive" "4y" "molar tooth sign; chorioretinal colobomas; 2y-no kidney anomalies; congenital hepatic fibrosis" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000332975" "05109" "00443638" "00006" "Familial, autosomal recessive" "8y" "molar tooth sign; no eye anomalies; 8y-no kidney anomalies; elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000349802" "00198" "00462303" "00006" "Familial, autosomal recessive" "" "16gw-large and hyperechogenic kidneys, vermian hypoplasia, mild ventriculomegaly" "" "" "" "" "" "" "" "" "" "suspected ciliopathy" "" "0000349803" "00198" "00462304" "00006" "Familial, autosomal recessive" "" "20gw-microcephaly, occipital encephalocele, bilateral nephromegaly" "" "" "" "" "" "" "" "" "" "suspected ciliopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 242 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000028945" "00028915" "1" "01188" "01188" "2015-01-05 14:21:43" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028983" "00028949" "1" "01188" "01188" "2015-01-06 09:10:27" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028984" "00028950" "1" "01188" "01188" "2015-01-06 09:12:10" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028985" "00028951" "1" "01188" "01188" "2015-01-06 09:28:57" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028986" "00028952" "1" "01188" "01188" "2015-01-06 09:30:55" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000056014" "00056058" "1" "00552" "00552" "2015-12-08 17:05:38" "" "" "SEQ-NG" "DNA" "" "" "0000056015" "00056059" "1" "00552" "00552" "2015-12-08 17:07:17" "" "" "SEQ-NG" "DNA" "" "" "0000056016" "00056060" "1" "00552" "00552" "2015-12-08 17:08:59" "" "" "SEQ-NG" "DNA" "" "" "0000056017" "00056061" "1" "00552" "00552" "2015-12-08 17:10:08" "" "" "SEQ-NG" "DNA" "" "" "0000056018" "00056062" "1" "00552" "00552" "2015-12-08 17:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000092384" "00092243" "1" "00006" "00006" "2016-12-16 19:09:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155877" "00155014" "1" "02401" "02401" "2018-03-09 07:29:32" "" "" "SEQ-NG" "DNA" "" "" "0000226789" "00225722" "1" "00006" "00006" "2019-02-22 23:53:31" "" "" "SEQ" "DNA" "" "" "0000266755" "00265632" "1" "02320" "02320" "2019-09-29 11:33:25" "" "" "SEQ-NG-I" "DNA" "Blood sample, amniotic fluid" "WES" "0000270251" "00269120" "1" "01164" "01164" "2019-11-06 14:42:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000270928" "00269773" "1" "00006" "00006" "2019-12-05 11:24:58" "00006" "2019-12-05 11:33:28" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000295846" "00294678" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295848" "00294680" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295849" "00294681" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295850" "00294682" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295852" "00294684" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306337" "00305208" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310784" "00309639" "1" "00006" "00006" "2020-08-30 12:45:21" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310785" "00309640" "1" "00006" "00006" "2020-08-30 12:48:12" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310786" "00309641" "1" "00006" "00006" "2020-08-30 12:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310787" "00309642" "1" "00006" "00006" "2020-08-30 12:50:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310788" "00309643" "1" "00006" "00006" "2020-08-30 12:50:48" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310790" "00309645" "1" "00006" "00006" "2020-08-30 12:53:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000319183" "00318001" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321104" "00319923" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332799" "00331580" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332800" "00331581" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332801" "00331582" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000334619" "00333394" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000360078" "00358846" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360086" "00358854" "1" "00000" "00006" "2021-03-16 16:48:35" "00006" "2021-03-16 16:54:36" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000360089" "00358857" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360092" "00358860" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360096" "00358864" "1" "00000" "00006" "2021-03-16 16:48:35" "00006" "2021-03-16 16:57:34" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000360098" "00358866" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360100" "00358868" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364792" "00363564" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373572" "00372343" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373573" "00372344" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373574" "00372345" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373575" "00372346" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373576" "00372347" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373577" "00372348" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373578" "00372349" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373579" "00372350" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373580" "00372351" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373581" "00372352" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373582" "00372353" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373583" "00372354" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373584" "00372355" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373585" "00372356" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373586" "00372357" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373587" "00372358" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373588" "00372359" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373589" "00372360" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373590" "00372361" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373591" "00372362" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373592" "00372363" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373593" "00372364" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373594" "00372365" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373595" "00372366" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373596" "00372367" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373597" "00372368" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373598" "00372369" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373599" "00372370" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373608" "00372379" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373609" "00372380" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373610" "00372381" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373611" "00372382" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373613" "00372384" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000374617" "00373382" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000374621" "00373386" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000374622" "00373387" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000375114" "00373882" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000378804" "00377600" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378805" "00377601" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378806" "00377602" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378807" "00377603" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378808" "00377604" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378809" "00377605" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378810" "00377606" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378811" "00377607" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378812" "00377608" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378813" "00377609" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378814" "00377610" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378815" "00377611" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378816" "00377612" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378817" "00377613" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378818" "00377614" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378819" "00377615" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378820" "00377616" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378821" "00377617" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378822" "00377618" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378823" "00377619" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378824" "00377620" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378825" "00377621" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378952" "00377748" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378965" "00377761" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378966" "00377762" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378967" "00377763" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378968" "00377764" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378969" "00377765" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378970" "00377766" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378971" "00377767" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378972" "00377768" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378973" "00377769" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378974" "00377770" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378987" "00377783" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378988" "00377784" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378989" "00377785" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378990" "00377786" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378991" "00377787" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000379160" "00377956" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000384430" "00383206" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384431" "00383207" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000386458" "00385229" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000388760" "00387534" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388764" "00387538" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388783" "00387557" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388784" "00387558" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388785" "00387559" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388786" "00387560" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388787" "00387561" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388788" "00387562" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388789" "00387563" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388790" "00387564" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388791" "00387565" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388792" "00387566" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388793" "00387567" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388794" "00387568" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388795" "00387569" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388796" "00387570" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388835" "00387609" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388836" "00387610" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388837" "00387611" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388838" "00387612" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388839" "00387613" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000389053" "00387822" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389063" "00387832" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389264" "00388025" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389304" "00388065" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389306" "00388067" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389308" "00388069" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389309" "00388070" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389310" "00388071" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389311" "00388072" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389312" "00388073" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389313" "00388074" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389314" "00388075" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389325" "00388086" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389333" "00388094" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389361" "00388122" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389362" "00388123" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389363" "00388124" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389365" "00388126" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389366" "00388127" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389367" "00388128" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389368" "00388129" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389369" "00388130" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000392840" "00391598" "1" "02494" "02494" "2021-11-18 13:27:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000396831" "00395593" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396840" "00395602" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000401064" "00399821" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408906" "00407654" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408911" "00407659" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408912" "00407660" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408924" "00407672" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000421650" "00420341" "1" "00000" "03840" "2022-11-01 11:33:46" "" "" "SEQ-NG;SEQ" "DNA;RNA" "induced pluripotent stem cells" "iPSCs generated from skin fibroblasts - induced pluripotent stem cell-derived retinal sheets" "0000438319" "00436837" "1" "04580" "04580" "2023-10-11 06:55:48" "" "" "SEQ-NG" "DNA" "Blood sample" "WGS" "0000444984" "00443492" "1" "00006" "00006" "2023-11-27 23:07:30" "" "" "SEQ" "DNA" "" "" "0000444985" "00443494" "1" "00006" "00006" "2023-11-27 23:50:00" "" "" "SEQ" "DNA" "" "" "0000444986" "00443495" "1" "00006" "00006" "2023-11-27 23:53:59" "" "" "SEQ" "RNA" "" "" "0000444987" "00443496" "1" "00006" "00006" "2023-11-28 00:11:40" "" "" "SEQ" "DNA" "" "" "0000445015" "00443523" "1" "00006" "00006" "2023-11-28 19:44:36" "" "" "SEQ" "DNA" "" "" "0000445017" "00443524" "1" "00006" "00006" "2023-11-28 19:55:45" "" "" "SEQ" "DNA" "" "" "0000445018" "00443525" "1" "00006" "00006" "2023-11-28 20:00:42" "" "" "SEQ" "DNA" "" "" "0000445019" "00443526" "1" "00006" "00006" "2023-11-28 20:05:26" "" "" "SEQ" "DNA" "" "" "0000445020" "00443527" "1" "00006" "00006" "2023-11-28 20:10:19" "" "" "SEQ" "DNA" "" "" "0000445021" "00443528" "1" "00006" "00006" "2023-11-28 20:15:21" "" "" "SEQ" "DNA" "" "" "0000445022" "00443529" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445023" "00443530" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445024" "00443531" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445025" "00443532" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445026" "00443533" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445027" "00443534" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000445028" "00443535" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445029" "00443536" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445030" "00443537" "1" "00006" "00006" "2023-11-28 21:41:48" "" "" "SEQ" "DNA" "" "" "0000445031" "00443538" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445032" "00443539" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445033" "00443540" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445034" "00443541" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445035" "00443542" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445036" "00443543" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445037" "00443544" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445038" "00443545" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445039" "00443546" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445040" "00443547" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445041" "00443548" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445042" "00443549" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445043" "00443550" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445044" "00443551" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445045" "00443552" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445046" "00443553" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445047" "00443554" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000445048" "00443555" "1" "00006" "00006" "2023-11-28 22:06:32" "" "" "SEQ" "DNA" "" "" "0000445080" "00443587" "1" "00006" "00006" "2023-11-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000445081" "00443588" "1" "00006" "00006" "2023-11-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000445082" "00443589" "1" "00006" "00006" "2023-11-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000445083" "00443590" "1" "00006" "00006" "2023-11-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000445084" "00443591" "1" "00006" "00006" "2023-11-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000445123" "00443630" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445124" "00443631" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445125" "00443632" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445126" "00443633" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445127" "00443634" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445128" "00443635" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445129" "00443636" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445130" "00443637" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445131" "00443638" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445132" "00443639" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445133" "00443640" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445134" "00443641" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445135" "00443642" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445136" "00443643" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445137" "00443644" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445138" "00443645" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445139" "00443646" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445140" "00443647" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445141" "00443648" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445142" "00443649" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445143" "00443650" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445144" "00443651" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000445145" "00443652" "1" "00006" "00006" "2023-11-29 19:38:05" "" "" "SEQ" "DNA" "" "" "0000463935" "00462303" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463936" "00462304" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 274 "{{screeningid}}" "{{geneid}}" "0000000031" "ADA" "0000000031" "ATP7B" "0000000031" "CYP21A2" "0000000031" "DPYD" "0000000031" "ETFB" "0000000031" "FKTN" "0000000031" "GAA" "0000000031" "GLB1" "0000000031" "IGHMBP2" "0000000031" "NHLRC1" "0000000031" "NPHS1" "0000000031" "SERPINA1" "0000000031" "TMEM67" "0000000031" "WNT10A" "0000028945" "AHI1" "0000028945" "TMEM67" "0000028983" "TMEM67" "0000028984" "TMEM67" "0000028985" "TMEM67" "0000028986" "TMEM67" "0000092384" "TMEM67" "0000226789" "TMEM67" "0000270928" "TMEM67" "0000310784" "C8orf37" "0000310784" "CCDC28B" "0000310784" "CEP19" "0000310784" "GLI1" "0000310784" "MKKS" "0000310784" "TMEM67" "0000310785" "C8orf37" "0000310785" "CCDC28B" "0000310785" "CEP19" "0000310785" "GLI1" "0000310785" "MKKS" "0000310785" "TMEM67" "0000310786" "C8orf37" "0000310786" "CCDC28B" "0000310786" "CEP19" "0000310786" "GLI1" "0000310786" "MKKS" "0000310786" "TMEM67" "0000310787" "C8orf37" "0000310787" "CCDC28B" "0000310787" "CEP19" "0000310787" "GLI1" "0000310787" "MKKS" "0000310787" "TMEM67" "0000310788" "C8orf37" "0000310788" "CCDC28B" "0000310788" "CEP19" "0000310788" "GLI1" "0000310788" "MKKS" "0000310788" "TMEM67" "0000310790" "C8orf37" "0000310790" "CCDC28B" "0000310790" "CEP19" "0000310790" "GLI1" "0000310790" "MKKS" "0000310790" "TMEM67" "0000319183" "TMEM67" "0000321104" "FGFR1" "0000321104" "TMEM67" "0000332799" "TMEM67" "0000332800" "TMEM67" "0000332801" "TMEM67" "0000334619" "RPGR" "0000360078" "TMEM67" "0000360086" "TMEM67" "0000360089" "TMEM67" "0000360092" "TMEM67" "0000360096" "TMEM67" "0000360098" "TMEM67" "0000360100" "RPGRIP1L" "0000360100" "TMEM67" "0000364792" "TMEM67" "0000373572" "TMEM67" "0000373573" "TMEM67" "0000373574" "TMEM67" "0000373575" "TMEM67" "0000373576" "TMEM67" "0000373577" "TMEM67" "0000373578" "TMEM67" "0000373579" "TMEM67" "0000373580" "TMEM67" "0000373581" "TMEM67" "0000373582" "TMEM67" "0000373583" "TMEM67" "0000373584" "TMEM67" "0000373585" "TMEM67" "0000373586" "TMEM67" "0000373587" "TMEM67" "0000373588" "TMEM67" "0000373589" "TMEM67" "0000373590" "TMEM67" "0000373591" "TMEM67" "0000373592" "TMEM67" "0000373593" "TMEM67" "0000373594" "TMEM67" "0000373595" "TMEM67" "0000373596" "TMEM67" "0000373597" "TMEM67" "0000373598" "TMEM67" "0000373599" "TMEM67" "0000373608" "TMEM67" "0000373609" "TMEM67" "0000373610" "TMEM67" "0000373611" "TMEM67" "0000373613" "TMEM67" "0000374617" "TMEM67" "0000374621" "TMEM67" "0000374622" "TMEM67" "0000375114" "TMEM67" "0000378804" "TMEM67" "0000378805" "TMEM67" "0000378806" "TMEM67" "0000378807" "TMEM67" "0000378808" "TMEM67" "0000378809" "TMEM67" "0000378810" "TMEM67" "0000378811" "TMEM67" "0000378812" "TMEM67" "0000378813" "TMEM67" "0000378814" "TMEM67" "0000378815" "TMEM67" "0000378816" "TMEM67" "0000378817" "TMEM67" "0000378818" "TMEM67" "0000378819" "TMEM67" "0000378820" "TMEM67" "0000378821" "TMEM67" "0000378822" "TMEM67" "0000378823" "TMEM67" "0000378824" "TMEM67" "0000378825" "TMEM67" "0000378952" "NPHP4" "0000378965" "TMEM67" "0000378966" "TMEM67" "0000378967" "TMEM67" "0000378968" "TMEM67" "0000378969" "TMEM67" "0000378970" "TMEM67" "0000378971" "TMEM67" "0000378972" "TMEM67" "0000378973" "TMEM67" "0000378974" "TMEM67" "0000378987" "TMEM67" "0000378988" "TMEM67" "0000378989" "TMEM67" "0000378990" "TMEM67" "0000378991" "TMEM67" "0000379160" "GUCY2D" "0000384430" "CEP290" "0000384430" "MKS1" "0000384430" "TMEM67" "0000384431" "CEP290" "0000384431" "MKS1" "0000384431" "TMEM67" "0000386458" "TMEM67" "0000388760" "TMEM67" "0000388764" "TMEM67" "0000388783" "TMEM67" "0000388784" "TMEM67" "0000388785" "TMEM67" "0000388786" "TMEM67" "0000388787" "TMEM67" "0000388788" "TMEM67" "0000388789" "TMEM67" "0000388790" "TMEM67" "0000388791" "TMEM67" "0000388792" "TMEM67" "0000388793" "TMEM67" "0000388794" "TMEM67" "0000388795" "TMEM67" "0000388796" "TMEM67" "0000388835" "TMEM67" "0000388836" "TMEM67" "0000388837" "TMEM67" "0000388838" "TMEM67" "0000388839" "TMEM67" "0000389053" "TMEM67" "0000389063" "TMEM67" "0000389264" "TMEM67" "0000389304" "TMEM67" "0000389306" "TMEM67" "0000389308" "TMEM67" "0000389309" "TMEM67" "0000389310" "TMEM67" "0000389311" "TMEM67" "0000389312" "TMEM67" "0000389313" "TMEM67" "0000389314" "TMEM67" "0000389325" "TMEM67" "0000389333" "TMEM67" "0000389361" "TMEM67" "0000389362" "TMEM67" "0000389363" "TMEM67" "0000389365" "TMEM67" "0000389366" "TMEM67" "0000389367" "TMEM67" "0000389368" "TMEM67" "0000389369" "TMEM67" "0000396831" "CC2D2A" "0000396840" "TMEM67" "0000408906" "TMEM67" "0000408911" "TMEM67" "0000408912" "TMEM67" "0000408924" "TMEM67" "0000421650" "TMEM67" "0000438319" "TMEM67" "0000444984" "TMEM67" "0000444985" "TMEM67" "0000444986" "TMEM67" "0000444987" "TMEM67" "0000445015" "TMEM67" "0000445017" "TMEM67" "0000445018" "TMEM67" "0000445019" "TMEM67" "0000445020" "TMEM67" "0000445021" "TMEM67" "0000445022" "TMEM67" "0000445023" "TMEM67" "0000445024" "TMEM67" "0000445025" "TMEM67" "0000445026" "TMEM67" "0000445027" "TMEM67" "0000445028" "TMEM67" "0000445029" "TMEM67" "0000445030" "TMEM67" "0000445031" "TMEM67" "0000445032" "TMEM67" "0000445033" "TMEM67" "0000445034" "TMEM67" "0000445035" "TMEM67" "0000445036" "TMEM67" "0000445037" "TMEM67" "0000445038" "TMEM67" "0000445039" "TMEM67" "0000445040" "TMEM67" "0000445041" "TMEM67" "0000445042" "TMEM67" "0000445043" "TMEM67" "0000445044" "TMEM67" "0000445045" "TMEM67" "0000445046" "TMEM67" "0000445047" "TMEM67" "0000445048" "TMEM67" "0000445080" "TMEM67" "0000445081" "TMEM67" "0000445082" "TMEM67" "0000445083" "TMEM67" "0000445084" "TMEM67" "0000445123" "TMEM67" "0000445124" "TMEM67" "0000445125" "TMEM67" "0000445126" "TMEM67" "0000445127" "TMEM67" "0000445128" "TMEM67" "0000445129" "TMEM67" "0000445130" "TMEM67" "0000445131" "TMEM67" "0000445132" "TMEM67" "0000445133" "TMEM67" "0000445134" "TMEM67" "0000445135" "TMEM67" "0000445136" "TMEM67" "0000445137" "TMEM67" "0000445138" "TMEM67" "0000445139" "TMEM67" "0000445140" "TMEM67" "0000445141" "TMEM67" "0000445142" "TMEM67" "0000445143" "TMEM67" "0000445144" "TMEM67" "0000445145" "TMEM67" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 581 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000001264" "0" "50" "8" "94807731" "94807731" "subst" "8.12506E-6" "00002" "TMEM67_000001" "g.94807731T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.93795503T>C" "" "VUS" "" "0000016636" "0" "70" "8" "94767303" "94767303" "subst" "0" "00015" "TMEM67_000002" "g.94767303A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93755075A>G" "" "likely pathogenic (recessive)" "" "0000016637" "0" "90" "8" "94768004" "94768004" "del" "0" "00015" "TMEM67_000003" "g.94768004del" "" "" "" "IVS1-2delA" "RNA skips exon 2" "SUMMARY record" "" "" "0" "" "" "g.93755776del" "" "pathogenic (recessive)" "" "0000016638" "0" "90" "8" "94770781" "94770782" "del" "0" "00015" "TMEM67_000004" "g.94770781_94770782del" "" "" "" "383-384delAC" "" "SUMMARY record" "" "" "0" "" "" "g.93758553_93758554del" "" "pathogenic (recessive)" "" "0000016639" "0" "90" "8" "94777802" "94777802" "del" "4.06204E-6" "00015" "TMEM67_000005" "g.94777802del" "" "" "" "579delA" "" "SUMMARY record" "" "" "0" "" "" "g.93765574del" "" "pathogenic (recessive)" "" "0000016640" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00015" "TMEM67_000006" "g.94777845A>T" "" "" "" "" "" "SUMMARY record" "" "rs137853108" "0" "" "" "g.93765617A>T" "" "pathogenic (recessive)" "" "0000016641" "0" "90" "8" "94777871" "94777871" "del" "0" "00015" "TMEM67_000007" "g.94777871del" "" "" "" "647delA" "" "SUMMARY record" "" "" "0" "" "" "g.93765643del" "" "pathogenic (recessive)" "" "0000016642" "0" "70" "8" "94777876" "94777876" "subst" "5.68787E-5" "00015" "TMEM67_000008" "g.94777876T>G" "" "" "" "651+2G>T" "" "SUMMARY record" "" "" "0" "" "" "g.93765648T>G" "" "likely pathogenic (recessive)" "" "0000016643" "0" "70" "8" "94792840" "94792840" "subst" "0" "00015" "TMEM67_000009" "g.94792840C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93780612C>T" "" "likely pathogenic (recessive)" "" "0000016644" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "00015" "TMEM67_000010" "g.94792861T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93780633T>C" "" "likely pathogenic (recessive)" "" "0000016645" "0" "70" "8" "94793100" "94793100" "subst" "0" "00015" "TMEM67_000011" "g.94793100A>G" "" "" "" "INV8-2A>G" "" "SUMMARY record" "" "" "0" "" "" "g.93780872A>G" "" "likely pathogenic (recessive)" "" "0000016647" "0" "70" "8" "94793120" "94793120" "subst" "8.12691E-6" "00015" "TMEM67_000013" "g.94793120G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93780892G>T" "" "likely pathogenic (recessive)" "" "0000016648" "0" "70" "8" "94793953" "94793953" "subst" "2.04268E-5" "00015" "TMEM67_000014" "g.94793953T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93781725T>C" "" "likely pathogenic (recessive)" "" "0000016649" "0" "70" "8" "94793973" "94793973" "del" "0" "00015" "TMEM67_000015" "g.94793973del" "" "" "" "1065+1delG" "" "SUMMARY record" "" "" "0" "" "" "g.93781745del" "" "likely pathogenic (recessive)" "" "0000016650" "0" "90" "8" "94794684" "94794684" "subst" "0" "00015" "TMEM67_000016" "g.94794684A>C" "" "" "" "Q376P" "" "SUMMARY record" "" "rs137853106" "0" "" "" "g.93782456A>C" "" "pathogenic (recessive)" "" "0000016651" "0" "70" "8" "94798481" "94798481" "subst" "5.69022E-5" "00015" "TMEM67_000017" "g.94798481G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93786253G>A" "" "likely pathogenic (recessive)" "" "0000016652" "0" "70" "8" "94798498" "94798498" "subst" "0" "00015" "TMEM67_000018" "g.94798498G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93786270G>C" "" "likely pathogenic (recessive)" "" "0000016653" "0" "90" "8" "94798513" "94798513" "subst" "4.0624E-6" "00015" "TMEM67_000019" "g.94798513C>T" "" "" "" "1351C>T: R451X" "" "SUMMARY record" "" "rs116647652" "0" "" "" "g.93786285C>T" "" "pathogenic (recessive)" "" "0000016654" "0" "70" "8" "94803510" "94803510" "subst" "8.14883E-6" "00015" "TMEM67_000020" "g.94803510A>G" "" "" "" "" "" "SUMMARY record" "" "rs137853107" "0" "" "" "g.93791282A>G" "" "likely pathogenic (recessive)" "" "0000016656" "0" "70" "8" "94803548" "94803548" "subst" "0" "00015" "TMEM67_000021" "g.94803548G>A" "" "" "" "INV15+1G>A" "" "SUMMARY record" "" "" "0" "" "" "g.93791320G>A" "" "likely pathogenic (recessive)" "" "0000016657" "3" "90" "8" "94807636" "94811987" "" "0" "00015" "TMEM67_000023" "g.(94805525_94807636)_(94811987_94815831)del" "" "" "" "del ex17-22" "" "SUMMARY record" "" "" "0" "" "" "g.(93793297_93795408)_(93799759_93803603)del" "" "pathogenic (recessive)" "" "0000016658" "0" "70" "8" "94808198" "94808198" "subst" "0.000158441" "00015" "TMEM67_000024" "g.94808198T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93795970T>C" "" "likely pathogenic (recessive)" "" "0000016659" "0" "70" "8" "94817106" "94817106" "subst" "3.66202E-5" "00015" "TMEM67_000025" "g.94817106G>A" "" "" "" "A813A, splice site" "last nucleotide exon 24 before 5\' splice donor site" "SUMMARY record" "" "" "0" "" "" "g.93804878G>A" "" "likely pathogenic (recessive)" "" "0000016660" "0" "90" "8" "94821285" "94821285" "subst" "0" "00015" "TMEM67_000026" "g.94821285A>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93809057A>T" "" "pathogenic (recessive)" "" "0000016661" "21" "70" "8" "94827665" "94827665" "subst" "0" "00015" "TMEM67_000027" "g.94827665T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93815437T>C" "" "likely pathogenic (recessive)" "" "0000016662" "0" "90" "8" "94821289" "94821289" "dup" "0" "00015" "TMEM67_000028" "g.94821289dup" "" "" "" "2561dupA" "" "SUMMARY record" "" "" "0" "" "" "g.93809061dup" "" "pathogenic (recessive)" "" "0000016663" "0" "70" "8" "94809600" "94809600" "subst" "0" "00015" "TMEM67_000029" "g.94809600T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93797372T>C" "" "likely pathogenic (recessive)" "" "0000016664" "0" "90" "8" "94821170" "94821170" "subst" "0" "00015" "TMEM67_000030" "g.94821170G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93808942G>T" "" "pathogenic (recessive)" "" "0000016665" "0" "70" "8" "94817024" "94817024" "subst" "4.06994E-6" "00015" "TMEM67_000031" "g.94817024G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93804796G>A" "" "likely pathogenic (recessive)" "" "0000016666" "0" "70" "8" "94821156" "94821156" "subst" "0" "00015" "TMEM67_000032" "g.94821156A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93808928A>G" "" "likely pathogenic (recessive)" "" "0000016667" "0" "90" "8" "94822040" "94822041" "ins" "0" "00015" "TMEM67_000033" "g.94822040_94822041insTA" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93809812_93809813insTA" "" "pathogenic (recessive)" "" "0000016668" "0" "70" "8" "94800071" "94800071" "subst" "0" "00015" "TMEM67_000034" "g.94800071G>C" "" "" "" "" "affects splicing" "SUMMARY record" "" "" "0" "" "" "g.93787843G>C" "" "likely pathogenic (recessive)" "" "0000016669" "0" "90" "8" "94815891" "94815891" "del" "0" "00015" "TMEM67_000035" "g.94815891del" "" "" "" "2301delT" "" "SUMMARY record" "" "" "0" "" "" "g.93803663del" "" "pathogenic (recessive)" "" "0000016670" "0" "90" "8" "94803510" "94803511" "del" "0" "00015" "TMEM67_000036" "g.94803510_94803511del" "" "" "" "1538_1539delAT" "" "SUMMARY record" "" "" "0" "" "" "g.93791282_93791283del" "" "pathogenic (recessive)" "" "0000016671" "0" "90" "8" "94770785" "94770785" "subst" "8.12255E-6" "00015" "TMEM67_000037" "g.94770785T>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93758557T>A" "" "pathogenic (recessive)" "" "0000016672" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "00015" "TMEM67_000038" "g.94777802_94777803del" "" "" "" "579_580delAG" "" "SUMMARY record" "" "" "0" "" "" "g.93765574_93765575del" "" "pathogenic (recessive)" "" "0000016673" "0" "90" "8" "94784840" "94784840" "subst" "8.1416E-6" "00015" "TMEM67_000039" "g.94784840G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93772612G>A" "" "pathogenic (recessive)" "" "0000016674" "0" "70" "8" "94815914" "94815914" "dup" "0" "00015" "TMEM67_000040" "g.94815914dup" "" "" "" "2322+2dupT" "affects splicing" "SUMMARY record" "" "" "0" "" "" "g.93803686dup" "" "likely pathogenic (recessive)" "" "0000016675" "0" "70" "8" "94798484" "94798484" "subst" "0" "00015" "TMEM67_000041" "g.94798484G>T" "" "" "" "c.1322G>T: p.R441L" "" "SUMMARY record" "" "" "0" "" "" "g.93786256G>T" "" "likely pathogenic (recessive)" "" "0000052249" "3" "70" "8" "94792831" "94792831" "subst" "4.06514E-6" "01188" "TMEM67_000042" "g.94792831A>G" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "?" "" "0" "" "" "g.93780603A>G" "" "likely pathogenic" "" "0000052291" "1" "70" "8" "94777845" "94777845" "subst" "0.000178714" "01188" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "rs137853108" "0" "" "" "g.93765617A>T" "" "likely pathogenic" "" "0000052292" "2" "70" "8" "94794672" "94794672" "subst" "0" "01188" "TMEM67_000043" "g.94794672C>A" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "" "0" "" "" "g.93782444C>A" "" "likely pathogenic" "" "0000052293" "1" "70" "8" "94777845" "94777845" "subst" "0.000178714" "01188" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "rs137853108" "0" "" "" "g.93765617A>T" "" "likely pathogenic" "" "0000052294" "2" "70" "8" "94821126" "94821126" "subst" "3.25261E-5" "01188" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "rs267607119" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000052295" "1" "70" "8" "94792903" "94792903" "subst" "0" "01188" "TMEM67_000045" "g.94792903A>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "" "0" "" "" "g.93780675A>C" "" "likely pathogenic" "" "0000052296" "2" "70" "8" "94821126" "94821126" "subst" "3.25261E-5" "01188" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "rs267607119" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000052297" "1" "70" "8" "94767183" "94767183" "subst" "0" "01188" "TMEM67_000046" "g.94767183G>A" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "" "0" "" "" "g.93754955G>A" "" "likely pathogenic" "" "0000052298" "2" "70" "8" "94821126" "94821126" "subst" "3.25261E-5" "01188" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "rs267607119" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000086051" "3" "90" "8" "94776078" "94776079" "del" "0" "00552" "TMEM67_000047" "g.94776078_94776079del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93763850_93763851del" "" "pathogenic" "" "0000086052" "1" "90" "8" "94777641" "94777641" "subst" "8.12466E-6" "00552" "TMEM67_000049" "g.94777641C>T" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93765413C>T" "" "pathogenic" "" "0000086053" "2" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00552" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000086054" "3" "90" "8" "94777802" "94777803" "del" "0.000194978" "00552" "TMEM67_000048" "g.94777802_94777803del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000086055" "3" "90" "8" "94798481" "94798481" "subst" "5.69022E-5" "00552" "TMEM67_000017" "g.94798481G>A" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93786253G>A" "" "pathogenic" "" "0000086056" "1" "90" "8" "94809462" "94809462" "subst" "0" "00552" "TMEM67_000050" "g.94809462G>A" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93797234G>A" "" "pathogenic" "" "0000086057" "2" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00552" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "" "0000150686" "1" "90" "8" "94807731" "94807731" "subst" "8.12506E-6" "00006" "TMEM67_000001" "g.94807731T>C" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "" "" "0" "" "" "g.93795503T>C" "" "pathogenic" "" "0000246669" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02330" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*, p.(Arg208*)), TMEM67(NM_153704.6):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000246699" "0" "10" "8" "94776092" "94776092" "subst" "4.06293E-6" "02330" "TMEM67_000061" "g.94776092A>T" "" "" "" "TMEM67(NM_153704.6):c.429A>T (p.T143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93763864A>T" "" "benign" "" "0000246700" "0" "10" "8" "94809608" "94809608" "subst" "0.000255929" "02330" "TMEM67_000065" "g.94809608A>G" "" "" "" "TMEM67(NM_153704.5):c.2010A>G (p.T670=), TMEM67(NM_153704.6):c.2010A>G (p.T670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93797380A>G" "" "benign" "" "0000246701" "0" "10" "8" "94828644" "94828644" "subst" "0.00123544" "02330" "TMEM67_000069" "g.94828644A>G" "" "" "" "TMEM67(NM_153704.6):c.2952A>G (p.A984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93816416A>G" "" "benign" "" "0000246771" "0" "50" "8" "94772225" "94772225" "subst" "2.21533E-5" "02330" "TMEM67_000078" "g.94772225A>G" "" "" "" "TMEM67(NM_001142301.1):c.163+4A>G, TMEM67(NM_153704.6):c.406+1421A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759997A>G" "" "VUS" "" "0000247987" "0" "10" "8" "94808165" "94808165" "subst" "0.639188" "02325" "TMEM67_000064" "g.94808165A>G" "" "" "" "TMEM67(NM_153704.5):c.1810A>G (p.I604V), TMEM67(NM_153704.6):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795937A>G" "" "benign" "" "0000250830" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02326" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*, p.(Arg208*)), TMEM67(NM_153704.6):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000251432" "0" "10" "8" "94817187" "94817187" "del" "0" "02326" "TMEM67_000089" "g.94817187del" "" "" "" "TMEM67(NM_153704.5):c.2439+81delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93804959del" "" "benign" "" "0000253248" "0" "10" "8" "94808165" "94808165" "subst" "0.639188" "01943" "TMEM67_000064" "g.94808165A>G" "" "" "" "TMEM67(NM_153704.5):c.1810A>G (p.I604V), TMEM67(NM_153704.6):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795937A>G" "" "benign" "" "0000254220" "0" "30" "8" "94827660" "94827660" "subst" "0.0401654" "01943" "TMEM67_000067" "g.94827660A>C" "" "" "" "TMEM67(NM_153704.5):c.2892A>C (p.T964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93815432A>C" "" "likely benign" "" "0000255385" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "01943" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*, p.(Arg208*)), TMEM67(NM_153704.6):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000255451" "0" "90" "8" "94777802" "94777802" "del" "4.06204E-6" "01943" "TMEM67_000080" "g.94777802del" "" "" "" "TMEM67(NM_153704.5):c.579delA (p.G195Dfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765574del" "" "pathogenic" "" "0000256493" "0" "50" "8" "94793190" "94793190" "subst" "0.00036991" "01943" "TMEM67_000062" "g.94793190A>T" "" "" "" "TMEM67(NM_153704.5):c.958A>T (p.S320C), TMEM67(NM_153704.6):c.958A>T (p.(Ser320Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780962A>T" "" "VUS" "" "0000256555" "0" "50" "8" "94794635" "94794635" "subst" "0.000365782" "01943" "TMEM67_000063" "g.94794635A>G" "" "" "" "TMEM67(NM_153704.5):c.1078A>G (p.T360A, p.(Thr360Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782407A>G" "" "VUS" "" "0000309248" "0" "10" "8" "94767262" "94767262" "subst" "6.09093E-5" "02330" "TMEM67_000053" "g.94767262T>C" "" "" "" "TMEM67(NM_153704.5):c.120T>C (p.S40=), TMEM67(NM_153704.6):c.120T>C (p.S40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755034T>C" "" "benign" "" "0000309249" "0" "50" "8" "94767266" "94767266" "subst" "4.46661E-5" "02330" "TMEM67_000054" "g.94767266C>G" "" "" "" "TMEM67(NM_153704.6):c.124C>G (p.P42A, p.(Pro42Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755038C>G" "" "VUS" "" "0000309250" "0" "30" "8" "94809681" "94809681" "subst" "4.07027E-6" "02330" "TMEM67_000088" "g.94809681G>C" "" "" "" "TMEM67(NM_153704.6):c.2083G>C (p.V695L, p.(Val695Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93797453G>C" "" "likely benign" "" "0000311897" "0" "30" "8" "94767208" "94767208" "subst" "0" "02325" "TMEM67_000052" "g.94767208G>A" "" "" "" "TMEM67(NM_153704.6):c.66G>A (p.V22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93754980G>A" "" "likely benign" "" "0000311898" "0" "10" "8" "94792887" "94792887" "subst" "0.0151486" "02325" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N), TMEM67(NM_153704.6):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "benign" "" "0000314582" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "02326" "TMEM67_000074" "g.94794620C>T" "" "" "" "TMEM67(NM_153704.5):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782392C>T" "" "benign" "" "0000314583" "0" "10" "8" "94772165" "94772165" "subst" "0.0228906" "02326" "TMEM67_000059" "g.94772165C>T" "" "" "" "TMEM67(NM_001142301.1):c.107C>T (p.(Pro36Leu), p.P36L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759937C>T" "" "benign" "" "0000314584" "0" "10" "8" "94772183" "94772183" "subst" "0.00190786" "02326" "TMEM67_000060" "g.94772183G>A" "" "" "" "TMEM67(NM_001142301.1):c.125G>A (p.(Cys42Tyr), p.C42Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759955G>A" "" "benign" "" "0000314585" "0" "30" "8" "94808123" "94808123" "subst" "0" "02326" "TMEM67_000086" "g.94808123T>A" "" "" "" "TMEM67(NM_153704.5):c.1774-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795895T>A" "" "likely benign" "" "0000314586" "0" "10" "8" "94809185" "94809185" "subst" "0" "02326" "TMEM67_000087" "g.94809185C>T" "" "" "" "TMEM67(NM_153704.5):c.1861-177C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93796957C>T" "" "benign" "" "0000314587" "0" "10" "8" "94768002" "94768003" "del" "0" "02326" "TMEM67_000057" "g.94768002_94768003del" "" "" "" "TMEM67(NM_153704.5):c.224-4_224-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755774_93755775del" "" "benign" "" "0000314588" "0" "10" "8" "94817064" "94817064" "subst" "0.0154566" "02326" "TMEM67_000066" "g.94817064T>C" "" "" "" "TMEM67(NM_153704.5):c.2397T>C (p.D799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93804836T>C" "" "benign" "" "0000314589" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "02326" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000314590" "0" "10" "8" "94775176" "94775177" "del" "0" "02326" "TMEM67_000079" "g.94775176_94775177del" "" "" "" "TMEM67(NM_153704.5):c.407-894_407-893delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93762948_93762949del" "" "benign" "" "0000314591" "0" "30" "8" "94792887" "94792887" "subst" "0.0151486" "02326" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N), TMEM67(NM_153704.6):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "likely benign" "" "0000316742" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "01943" "TMEM67_000074" "g.94794620C>T" "" "" "" "TMEM67(NM_153704.5):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782392C>T" "" "benign" "" "0000316743" "0" "30" "8" "94767262" "94767262" "subst" "6.09093E-5" "01943" "TMEM67_000053" "g.94767262T>C" "" "" "" "TMEM67(NM_153704.5):c.120T>C (p.S40=), TMEM67(NM_153704.6):c.120T>C (p.S40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755034T>C" "" "likely benign" "" "0000316744" "0" "50" "8" "94807692" "94807692" "subst" "0" "01943" "TMEM67_000085" "g.94807692T>C" "" "" "" "TMEM67(NM_153704.5):c.1730T>C (p.I577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795464T>C" "" "VUS" "" "0000316745" "0" "30" "8" "94767328" "94767328" "subst" "0.0012507" "01943" "TMEM67_000055" "g.94767328T>C" "" "" "" "TMEM67(NM_153704.5):c.186T>C (p.C62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755100T>C" "" "likely benign" "" "0000316746" "0" "50" "8" "94767336" "94767336" "subst" "0" "01943" "TMEM67_000056" "g.94767336G>T" "" "" "" "TMEM67(NM_153704.5):c.194G>T (p.C65F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755108G>T" "" "VUS" "" "0000316747" "0" "30" "8" "94817064" "94817064" "subst" "0.0154566" "01943" "TMEM67_000066" "g.94817064T>C" "" "" "" "TMEM67(NM_153704.5):c.2397T>C (p.D799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93804836T>C" "" "likely benign" "" "0000316748" "0" "30" "8" "94767167" "94767167" "subst" "0.000447089" "01943" "TMEM67_000051" "g.94767167G>A" "" "" "" "TMEM67(NM_153704.5):c.25G>A (p.V9M, p.(Val9Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93754939G>A" "" "likely benign" "" "0000316749" "0" "30" "8" "94828620" "94828620" "subst" "2.47635E-5" "01943" "TMEM67_000068" "g.94828620T>C" "" "" "" "TMEM67(NM_153704.5):c.2928T>C (p.N976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93816392T>C" "" "likely benign" "" "0000316750" "0" "30" "8" "94770767" "94770767" "subst" "0.000442661" "01943" "TMEM67_000058" "g.94770767C>T" "" "" "" "TMEM67(NM_153704.5):c.369C>T (p.A123=), TMEM67(NM_153704.6):c.369C>T (p.A123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93758539C>T" "" "likely benign" "" "0000316751" "0" "10" "8" "94792887" "94792887" "subst" "0.0151486" "01943" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N), TMEM67(NM_153704.6):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "benign" "" "0000316752" "0" "50" "8" "94792963" "94792963" "subst" "1.62584E-5" "01943" "TMEM67_000082" "g.94792963C>G" "" "" "" "TMEM67(NM_153704.5):c.857C>G (p.S286C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780735C>G" "" "VUS" "" "0000332200" "0" "90" "8" "94777642" "94777642" "subst" "2.43736E-5" "01804" "TMEM67_000098" "g.94777642G>A" "" "" "" "TMEM67(NM_153704.6):c.515G>A (p.(Arg172Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765414G>A" "" "pathogenic" "" "0000332202" "0" "50" "8" "94792823" "94792823" "subst" "9.7588E-5" "01804" "TMEM67_000104" "g.94792823A>G" "" "" "" "TMEM67(NM_001142301.1):c.474A>G (p.(=)), TMEM67(NM_153704.5):c.717A>G (p.V239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780595A>G" "" "VUS" "" "0000332203" "0" "30" "8" "94793215" "94793215" "subst" "4.06798E-6" "01804" "TMEM67_000106" "g.94793215A>C" "" "" "" "TMEM67(NM_001142301.1):c.735+5A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780987A>C" "" "likely benign" "" "0000332205" "0" "50" "8" "94798484" "94798484" "subst" "8.1279E-6" "01804" "TMEM67_000110" "g.94798484G>A" "" "" "" "TMEM67(NM_001142301.1):c.1079G>A (p.(Arg360His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93786256G>A" "" "VUS" "" "0000332206" "0" "50" "8" "94807662" "94807662" "subst" "7.71749E-5" "01804" "TMEM67_000112" "g.94807662A>G" "" "" "" "TMEM67(NM_001142301.1):c.1457A>G (p.(Tyr486Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795434A>G" "" "VUS" "" "0000332207" "0" "30" "8" "94811906" "94811906" "subst" "0.0027711" "01804" "TMEM67_000116" "g.94811906C>T" "" "" "" "TMEM67(NM_001142301.1):c.1918C>T (p.(Pro640Ser)), TMEM67(NM_153704.5):c.2161C>T (p.P721S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799678C>T" "" "likely benign" "" "0000332208" "0" "30" "8" "94811986" "94811986" "subst" "0.00193531" "01804" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=), TMEM67(NM_153704.6):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799758G>A" "" "likely benign" "" "0000338940" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "02327" "TMEM67_000074" "g.94794620C>T" "" "" "" "TMEM67(NM_153704.5):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782392C>T" "" "benign" "" "0000341115" "0" "50" "8" "94767171" "94767171" "subst" "1.21946E-5" "02327" "TMEM67_000070" "g.94767171C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93754943C>T" "" "VUS" "" "0000345636" "0" "50" "8" "94770714" "94770714" "subst" "4.07246E-6" "02327" "TMEM67_000071" "g.94770714G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93758486G>A" "" "VUS" "" "0000345871" "0" "50" "8" "94784818" "94784818" "subst" "0.000158676" "02327" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A), TMEM67(NM_153704.6):c.653G>C (p.(Gly218Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93772590G>C" "" "VUS" "" "0000346777" "0" "10" "8" "94808165" "94808165" "subst" "0.639188" "02327" "TMEM67_000064" "g.94808165A>G" "" "" "" "TMEM67(NM_153704.5):c.1810A>G (p.I604V), TMEM67(NM_153704.6):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795937A>G" "" "benign" "" "0000347789" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "02327" "TMEM67_000010" "g.94792861T>C" "" "" "" "TMEM67(NM_153704.5):c.755T>C (p.M252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000348339" "0" "10" "8" "94772136" "94772136" "subst" "0" "02327" "TMEM67_000072" "g.94772136C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759908C>T" "" "benign" "" "0000348935" "0" "50" "8" "94793190" "94793190" "subst" "0.00036991" "02327" "TMEM67_000062" "g.94793190A>T" "" "" "" "TMEM67(NM_153704.5):c.958A>T (p.S320C), TMEM67(NM_153704.6):c.958A>T (p.(Ser320Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780962A>T" "" "VUS" "" "0000351466" "0" "30" "8" "94811986" "94811986" "subst" "0.00193531" "02327" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=), TMEM67(NM_153704.6):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799758G>A" "" "likely benign" "" "0000351467" "0" "90" "8" "94811987" "94811987" "subst" "0" "02327" "TMEM67_000076" "g.94811987G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799759G>A" "" "pathogenic" "" "0000351468" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "02327" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000357618" "11" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02401" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Brancati 2018:29891882}, {DOI:Brancati 2018:10.1038/s41431-018-0183-6}" "" "" "" "Germline" "" "rs137853108" "0" "" "" "g.93765617A>T" "" "pathogenic (recessive)" "" "0000357619" "21" "90" "8" "94798451" "94798451" "subst" "0" "02401" "TMEM67_000084" "g.94798451A>G" "" "{PMID:Brancati 2018:29891882}, {DOI:Brancati 2018:10.1038/s41431-018-0183-6}" "" "" "effect on splicing investigated with mini-gene splicing assay" "Germline" "" "rs967792092" "0" "" "" "g.93786223A>G" "" "pathogenic (recessive)" "" "0000459819" "3" "90" "8" "94815896" "94815896" "del" "0" "00006" "TMEM67_000090" "g.94815896del" "" "{PMID:Shaheen 2013:23169490}" "" "2306delT" "" "Germline" "" "" "0" "" "" "g.93803668del" "" "pathogenic (recessive)" "" "0000535437" "0" "30" "8" "94767167" "94767167" "subst" "0.000447089" "01804" "TMEM67_000051" "g.94767167G>A" "" "" "" "TMEM67(NM_153704.5):c.25G>A (p.V9M, p.(Val9Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93754939G>A" "" "likely benign" "" "0000535438" "0" "50" "8" "94767179" "94767179" "subst" "0.000150295" "02330" "TMEM67_000091" "g.94767179G>A" "" "" "" "TMEM67(NM_153704.6):c.37G>A (p.V13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93754951G>A" "" "VUS" "" "0000535441" "0" "10" "8" "94770767" "94770767" "subst" "0.000442661" "02330" "TMEM67_000058" "g.94770767C>T" "" "" "" "TMEM67(NM_153704.5):c.369C>T (p.A123=), TMEM67(NM_153704.6):c.369C>T (p.A123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93758539C>T" "" "benign" "" "0000535444" "0" "30" "8" "94772105" "94772105" "subst" "1.65131E-5" "01943" "TMEM67_000095" "g.94772105G>A" "" "" "" "TMEM67(NM_001142301.1):c.47G>A (p.R16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759877G>A" "" "likely benign" "" "0000535445" "0" "30" "8" "94772149" "94772149" "dup" "0" "01804" "TMEM67_000096" "g.94772149dup" "" "" "" "TMEM67(NM_001142301.1):c.91dup (p.(Tyr31Leufs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759921dup" "" "likely benign" "" "0000535446" "0" "30" "8" "94772165" "94772165" "subst" "0.0228906" "01804" "TMEM67_000059" "g.94772165C>T" "" "" "" "TMEM67(NM_001142301.1):c.107C>T (p.(Pro36Leu), p.P36L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759937C>T" "" "likely benign" "" "0000535447" "0" "30" "8" "94772183" "94772183" "subst" "0.00190786" "01804" "TMEM67_000060" "g.94772183G>A" "" "" "" "TMEM67(NM_001142301.1):c.125G>A (p.(Cys42Tyr), p.C42Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759955G>A" "" "likely benign" "" "0000535448" "0" "50" "8" "94777638" "94777638" "subst" "0.00026812" "01943" "TMEM67_000097" "g.94777638G>A" "" "" "" "TMEM67(NM_153704.5):c.511G>A (p.V171I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765410G>A" "" "VUS" "" "0000535449" "0" "30" "8" "94777688" "94777688" "subst" "0" "01943" "TMEM67_000099" "g.94777688A>G" "" "" "" "TMEM67(NM_153704.5):c.561A>G (p.S187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765460A>G" "" "likely benign" "" "0000535450" "0" "30" "8" "94777713" "94777713" "subst" "0" "01943" "TMEM67_000100" "g.94777713A>T" "" "" "" "TMEM67(NM_153704.5):c.576+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765485A>T" "" "likely benign" "" "0000535451" "0" "30" "8" "94777789" "94777789" "subst" "0" "02330" "TMEM67_000101" "g.94777789T>C" "" "" "" "TMEM67(NM_153704.6):c.577-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765561T>C" "" "likely benign" "" "0000535452" "0" "50" "8" "94777807" "94777807" "subst" "4.06184E-6" "02327" "TMEM67_000102" "g.94777807G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765579G>T" "" "VUS" "" "0000535453" "0" "50" "8" "94784818" "94784818" "subst" "0.000158676" "01943" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A), TMEM67(NM_153704.6):c.653G>C (p.(Gly218Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93772590G>C" "" "VUS" "" "0000535454" "0" "30" "8" "94784818" "94784818" "subst" "0.000158676" "02326" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A), TMEM67(NM_153704.6):c.653G>C (p.(Gly218Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93772590G>C" "" "likely benign" "" "0000535455" "0" "30" "8" "94792823" "94792823" "subst" "9.7588E-5" "02326" "TMEM67_000104" "g.94792823A>G" "" "" "" "TMEM67(NM_001142301.1):c.474A>G (p.(=)), TMEM67(NM_153704.5):c.717A>G (p.V239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780595A>G" "" "likely benign" "" "0000535456" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "01943" "TMEM67_000010" "g.94792861T>C" "" "" "" "TMEM67(NM_153704.5):c.755T>C (p.M252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000535457" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "02326" "TMEM67_000010" "g.94792861T>C" "" "" "" "TMEM67(NM_153704.5):c.755T>C (p.M252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780633T>C" "" "pathogenic" "" "0000535458" "0" "30" "8" "94792887" "94792887" "subst" "0.0151486" "01804" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N), TMEM67(NM_153704.6):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780659G>A" "" "likely benign" "" "0000535459" "0" "50" "8" "94792903" "94792903" "subst" "0" "01804" "TMEM67_000045" "g.94792903A>C" "" "" "" "TMEM67(NM_001142301.1):c.554A>C (p.(Asp185Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780675A>C" "" "VUS" "" "0000535460" "0" "10" "8" "94792984" "94792984" "subst" "0.000191082" "02330" "TMEM67_000105" "g.94792984A>G" "" "" "" "TMEM67(NM_153704.5):c.869+9A>G, TMEM67(NM_153704.6):c.869+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780756A>G" "" "benign" "" "0000535462" "0" "50" "8" "94794635" "94794635" "subst" "0.000365782" "01804" "TMEM67_000063" "g.94794635A>G" "" "" "" "TMEM67(NM_153704.5):c.1078A>G (p.T360A, p.(Thr360Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93782407A>G" "" "VUS" "" "0000535463" "0" "30" "8" "94797463" "94797463" "subst" "0" "02330" "TMEM67_000107" "g.94797463T>G" "" "" "" "TMEM67(NM_153704.6):c.1145T>G (p.I382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93785235T>G" "" "likely benign" "" "0000535464" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "02330" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "likely benign" "" "0000535465" "0" "50" "8" "94798471" "94798471" "subst" "0.00202075" "01943" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "VUS" "" "0000535466" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "01804" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "likely benign" "" "0000535467" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "02326" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "likely benign" "" "0000535468" "0" "50" "8" "94798471" "94798471" "subst" "0.00202075" "02329" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "VUS" "" "0000535469" "0" "30" "8" "94798541" "94798541" "subst" "0.000292531" "01943" "TMEM67_000111" "g.94798541G>C" "" "" "" "TMEM67(NM_153704.5):c.1379G>C (p.R460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786313G>C" "" "likely benign" "" "0000535470" "0" "10" "8" "94808048" "94808048" "del" "0" "02326" "TMEM67_000113" "g.94808048del" "" "" "" "TMEM67(NM_153704.5):c.1774-81delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93795820del" "" "benign" "" "0000535471" "0" "50" "8" "94808192" "94808192" "subst" "0" "01943" "TMEM67_000114" "g.94808192G>A" "" "" "" "TMEM67(NM_153704.5):c.1837G>A (p.V613I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93795964G>A" "" "VUS" "" "0000535472" "0" "50" "8" "94809396" "94809396" "subst" "4.06455E-6" "01943" "TMEM67_000115" "g.94809396T>G" "" "" "" "TMEM67(NM_153704.5):c.1895T>G (p.I632S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93797168T>G" "" "VUS" "" "0000535473" "0" "50" "8" "94811986" "94811986" "subst" "0.00193531" "02330" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=), TMEM67(NM_153704.6):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93799758G>A" "" "VUS" "" "0000535474" "0" "50" "8" "94811986" "94811986" "subst" "0.00193531" "01943" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=), TMEM67(NM_153704.6):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93799758G>A" "" "VUS" "" "0000535475" "0" "30" "8" "94811986" "94811986" "subst" "0.00193531" "02326" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=), TMEM67(NM_153704.6):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93799758G>A" "" "likely benign" "" "0000535478" "0" "50" "8" "94815889" "94815889" "subst" "0.000142263" "02330" "TMEM67_000118" "g.94815889G>A" "" "" "" "TMEM67(NM_001142301.1):c.2056G>A (p.(Val686Ile)), TMEM67(NM_153704.6):c.2299G>A (p.V767I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93803661G>A" "" "VUS" "" "0000535479" "0" "30" "8" "94815889" "94815889" "subst" "0.000142263" "01804" "TMEM67_000118" "g.94815889G>A" "" "" "" "TMEM67(NM_001142301.1):c.2056G>A (p.(Val686Ile)), TMEM67(NM_153704.6):c.2299G>A (p.V767I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93803661G>A" "" "likely benign" "" "0000535480" "0" "10" "8" "94817022" "94817022" "subst" "0" "02330" "TMEM67_000119" "g.94817022T>C" "" "" "" "TMEM67(NM_153704.6):c.2355T>C (p.F785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93804794T>C" "" "benign" "" "0000535482" "0" "30" "8" "94821062" "94821062" "subst" "0.000713203" "01943" "TMEM67_000120" "g.94821062T>C" "" "" "" "TMEM67(NM_153704.5):c.2440-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93808834T>C" "" "likely benign" "" "0000535483" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "01943" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93808898T>C" "" "pathogenic" "" "0000535484" "0" "30" "8" "94821188" "94821188" "subst" "4.06954E-5" "01804" "TMEM67_000121" "g.94821188T>G" "" "" "" "TMEM67(NM_001142301.1):c.2313+4T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93808960T>G" "" "likely benign" "" "0000535485" "0" "50" "8" "94821388" "94821388" "subst" "4.08827E-6" "02330" "TMEM67_000122" "g.94821388A>G" "" "" "" "TMEM67(NM_153704.6):c.2660A>G (p.H887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93809160A>G" "" "VUS" "" "0000535486" "0" "10" "8" "94827684" "94827684" "subst" "0.000102621" "02330" "TMEM67_000123" "g.94827684T>C" "" "" "" "TMEM67(NM_153704.6):c.2907+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93815456T>C" "" "benign" "" "0000597572" "11" "90" "8" "94792831" "94792831" "subst" "4.06514E-6" "02320" "TMEM67_000042" "g.94792831A>G" "" "{PMID:Bui 2020:32000717}, {DOI:Bui 2020:10.1186/s12881-020-0962-0}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93780603A>G" "212652" "likely pathogenic (recessive)" "" "0000597573" "21" "90" "8" "94770708" "94770708" "subst" "0" "02320" "TMEM67_000125" "g.94770708T>G" "" "{PMID:Bui 2020:32000717}, {DOI:Bui 2020:10.1186/s12881-020-0962-0}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93758480T>G" "" "likely pathogenic (recessive)" "" "0000602991" "3" "70" "8" "94798500" "94798512" "del" "0" "01164" "TMEM67_000126" "g.94798500_94798512del" "" "" "" "" "ACMG: PVS1,PM2; detected in prenatal test - parents consaguinous" "Germline" "" "" "0" "" "" "g.93786272_93786284del" "" "likely pathogenic" "ACMG" "0000611724" "0" "30" "8" "94767256" "94767256" "subst" "0" "01943" "TMEM67_000129" "g.94767256C>T" "" "" "" "TMEM67(NM_153704.5):c.114C>T (p.T38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93755028C>T" "" "likely benign" "" "0000620292" "1" "90" "8" "94770727" "94770727" "subst" "4.0622E-6" "00006" "TMEM67_000128" "g.94770727A>G" "" "{PMID:Tsurusaki 2013:23034536}" "" "" "" "Germline" "" "" "0" "" "" "g.93758499A>G" "" "pathogenic (recessive)" "" "0000620296" "2" "90" "8" "94815917" "94815917" "del" "4.06646E-6" "00006" "TMEM67_000127" "g.94815917del" "" "{PMID:Tsurusaki 2013:23034536}" "" "2322+5delG" "" "Germline" "" "" "0" "" "" "g.93803689del" "" "pathogenic (recessive)" "" "0000622097" "0" "70" "8" "94768096" "94768096" "subst" "0" "02330" "TMEM67_000130" "g.94768096T>G" "" "" "" "TMEM67(NM_153704.6):c.312+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93755868T>G" "" "likely pathogenic" "" "0000652535" "1" "10" "8" "94772165" "94772165" "subst" "0.0228906" "03575" "TMEM67_000059" "g.94772165C>T" "87/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "87 heterozygous, no homozygous; {DB:CLININrs73324992}" "Germline" "" "rs73324992" "0" "" "" "g.93759937C>T" "" "benign" "" "0000652537" "1" "10" "8" "94792887" "94792887" "subst" "0.0151486" "03575" "TMEM67_000081" "g.94792887G>A" "137/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "137 heterozygous, no homozygous; {DB:CLININrs35793208}" "Germline" "" "rs35793208" "0" "" "" "g.93780659G>A" "" "benign" "" "0000652538" "1" "50" "8" "94798484" "94798484" "subst" "0" "03575" "TMEM67_000041" "g.94798484G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs386834183}" "Germline" "" "rs386834183" "0" "" "" "g.93786256G>T" "" "VUS" "" "0000652539" "1" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "03575" "TMEM67_000020" "g.94803510A>G" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137853107}" "Germline" "" "rs137853107" "0" "" "" "g.93791282A>G" "" "pathogenic" "" "0000652541" "1" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "03575" "TMEM67_000044" "g.94821126T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs267607119}" "Germline" "" "rs267607119" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000670025" "3" "10" "8" "94817064" "94817064" "subst" "0.0154566" "03575" "TMEM67_000066" "g.94817064T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs117195541}" "Germline" "" "rs117195541" "0" "" "" "g.93804836T>C" "" "benign" "" "0000685768" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685773" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685780" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685785" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685790" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685796" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000690328" "0" "90" "8" "94777641" "94777641" "subst" "8.12466E-6" "02326" "TMEM67_000049" "g.94777641C>T" "" "" "" "TMEM67(NM_153704.5):c.514C>T (p.R172*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690329" "0" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "02326" "TMEM67_000020" "g.94803510A>G" "" "" "" "TMEM67(NM_153704.5):c.1538A>G (p.Y513C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690330" "0" "70" "8" "94809361" "94809361" "subst" "0" "02330" "TMEM67_000131" "g.94809361G>A" "" "" "" "TMEM67(NM_153704.6):c.1861-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701847" "3" "50" "8" "94768056" "94768056" "subst" "1.23967E-5" "00006" "TMEM67_000132" "g.94768056G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.93755828G>A" "" "VUS" "" "0000703894" "3" "70" "8" "94827616" "94827616" "subst" "4.06947E-6" "00006" "TMEM67_000133" "g.94827616G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.93815388G>A" "" "likely pathogenic" "" "0000722100" "0" "50" "8" "94768081" "94768081" "subst" "0" "01943" "TMEM67_000134" "g.94768081G>A" "" "" "" "TMEM67(NM_153704.5):c.299G>A (p.C100Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722101" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "02329" "TMEM67_000038" "g.94777802_94777803del" "" "" "" "TMEM67(NM_153704.6):c.579_580del (p.(Gly195IlefsTer13)), TMEM67(NM_153704.6):c.579_580delAG (p.G195Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722102" "0" "70" "8" "94777876" "94777876" "subst" "5.68787E-5" "02330" "TMEM67_000008" "g.94777876T>G" "" "" "" "TMEM67(NM_153704.6):c.651+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722103" "0" "30" "8" "94792887" "94792887" "subst" "0.0151486" "02330" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N), TMEM67(NM_153704.6):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722104" "0" "50" "8" "94794630" "94794630" "subst" "0" "02329" "TMEM67_000083" "g.94794630C>T" "" "" "" "TMEM67(NM_153704.6):c.1073C>T (p.P358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722105" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "02327" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722106" "0" "70" "8" "94805496" "94805496" "subst" "0" "01943" "TMEM67_000136" "g.94805496G>T" "" "" "" "TMEM67(NM_153704.5):c.1646G>T (p.R549L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722107" "0" "30" "8" "94807627" "94807627" "dup" "0" "02326" "TMEM67_000137" "g.94807627dup" "" "" "" "TMEM67(NM_153704.5):c.1675-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722108" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "02326" "TMEM67_000024" "g.94808198T>C" "" "" "" "TMEM67(NM_001142301.1):c.1600T>C (p.(Cys534Arg)), TMEM67(NM_153704.5):c.1843T>C (p.C615R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722109" "0" "90" "8" "94815880" "94815880" "subst" "4.06415E-6" "02329" "TMEM67_000117" "g.94815880C>T" "" "" "" "TMEM67(NM_153704.6):c.2290C>T (p.R764*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722110" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "02325" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730081" "3" "90" "8" "94815896" "94815896" "del" "0" "00000" "TMEM67_000090" "g.94815896del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153704.5:c.2306delT:p.(Leu769Tyrfs*4)" "" "Germline" "" "" "0" "" "" "g.93803668del" "" "pathogenic (recessive)" "" "0000730082" "3" "90" "8" "94822058" "94822058" "subst" "0" "00000" "TMEM67_000138" "g.94822058G>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153704.5:c.2707G>C:p.(Glu903Gln)" "" "Germline" "" "" "0" "" "" "g.93809830G>C" "" "pathogenic (recessive)" "" "0000730083" "3" "90" "8" "94792845" "94792845" "subst" "0" "00000" "TMEM67_000135" "g.94792845C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153704.5:c.739C>G:p.(Gln247Glu)" "" "Germline" "" "" "0" "" "" "g.93780617C>G" "" "pathogenic (recessive)" "" "0000732619" "0" "90" "8" "94798549" "94798549" "subst" "8.12691E-6" "00000" "TMEM67_000139" "g.94798549C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.93786321C>T" "" "pathogenic" "" "0000759754" "1" "90" "8" "94770727" "94770727" "subst" "4.0622E-6" "00000" "TMEM67_000128" "g.94770727A>G" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93758499A>G" "" "pathogenic" "" "0000759762" "1" "90" "8" "94792828" "94792828" "subst" "3.25256E-5" "00000" "TMEM67_000145" "g.94792828C>G" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93780600C>G" "" "pathogenic" "" "0000759765" "11" "90" "8" "94815901" "94815901" "subst" "0" "00000" "TMEM67_000147" "g.94815901T>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93803673T>C" "" "pathogenic" "" "0000759768" "1" "90" "8" "94793976" "94793976" "del" "0" "00000" "TMEM67_000146" "g.94793976del" "" "{PMID:Suzuki 2016:27434533}" "" "c.1065+4delA" "" "Germline" "" "" "0" "" "" "g.93781748del" "" "pathogenic" "" "0000759772" "11" "90" "8" "94768099" "94768099" "subst" "0" "00000" "TMEM67_000141" "g.94768099G>A" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93755871G>A" "" "pathogenic" "" "0000759774" "11" "90" "8" "94776138" "94776138" "subst" "4.06342E-6" "00000" "TMEM67_000144" "g.94776138T>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93763910T>C" "" "pathogenic" "" "0000759776" "11" "90" "8" "94803510" "94803511" "del" "0" "00000" "TMEM67_000036" "g.94803510_94803511del" "" "{PMID:Suzuki 2016:27434533}" "" "c.1536_1537del" "" "Germline" "" "" "0" "" "" "g.93791282_93791283del" "" "pathogenic" "" "0000759782" "2" "90" "8" "94815917" "94815917" "del" "4.06646E-6" "00000" "TMEM67_000127" "g.94815917del" "" "{PMID:Suzuki 2016:27434533}" "" "c.2322+5delG" "" "Germline" "" "" "0" "" "" "g.93803689del" "" "pathogenic" "" "0000759787" "2" "90" "8" "94805424" "94805424" "subst" "0" "00000" "TMEM67_000140" "g.94805424A>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93793196A>C" "" "pathogenic" "" "0000759789" "21" "90" "8" "94815880" "94815880" "subst" "4.06415E-6" "00000" "TMEM67_000117" "g.94815880C>T" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93803652C>T" "" "pathogenic" "" "0000759791" "2" "90" "8" "94821150" "94821150" "subst" "0" "00000" "TMEM67_000148" "g.94821150A>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93808922A>C" "" "pathogenic" "" "0000759795" "21" "90" "8" "94770793" "94770793" "subst" "4.06167E-6" "00000" "TMEM67_000142" "g.94770793G>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93758565G>C" "" "pathogenic" "" "0000759797" "21" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic" "" "0000759799" "21" "90" "8" "94776105" "94776105" "subst" "0" "00000" "TMEM67_000143" "g.94776105G>T" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.93763877G>T" "" "pathogenic" "" "0000765699" "3" "90" "8" "94811877" "94811877" "subst" "8.12565E-6" "00000" "TMEM67_000149" "g.94811877A>C" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "" "0" "" "" "g.93799649A>C" "" "pathogenic (recessive)" "" "0000783552" "1" "90" "8" "94805527" "94805527" "subst" "0" "00000" "TMEM67_000162" "g.94805527A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1674+3A>G" "" "Germline" "" "" "0" "" "" "g.93793299A>G" "" "pathogenic" "" "0000783553" "1" "90" "8" "94809412" "94809412" "subst" "0" "00000" "TMEM67_000163" "g.94809412C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1911C>A" "" "Germline" "" "" "0" "" "" "g.93797184C>A" "" "pathogenic" "" "0000783554" "1" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00000" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1046T>C" "" "Germline" "" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "" "0000783555" "1" "90" "8" "94809557" "94809557" "subst" "4.0619E-6" "00000" "TMEM67_000164" "g.94809557A>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1961-2A>C" "" "Germline" "" "" "0" "" "" "g.93797329A>C" "" "pathogenic" "" "0000783556" "1" "90" "8" "94809557" "94809557" "subst" "4.0619E-6" "00000" "TMEM67_000164" "g.94809557A>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1961-2A>C" "" "Germline" "" "" "0" "" "" "g.93797329A>C" "" "pathogenic" "" "0000783557" "1" "90" "8" "94770787" "94770787" "subst" "0" "00000" "TMEM67_000154" "g.94770787C>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.389C>G" "" "Germline" "" "" "0" "" "" "g.93758559C>G" "" "pathogenic" "" "0000783558" "1" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783559" "1" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783560" "1" "90" "8" "94792875" "94792875" "subst" "0" "00000" "TMEM67_000156" "g.94792875A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.769A>G" "" "Germline" "" "" "0" "" "" "g.93780647A>G" "" "pathogenic" "" "0000783561" "1" "90" "8" "94793213" "94793213" "subst" "4.06792E-6" "00000" "TMEM67_000157" "g.94793213A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.978+3A>G" "" "Germline" "" "" "0" "" "" "g.93780985A>G" "" "pathogenic" "" "0000783562" "1" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1843T>C" "" "Germline" "" "" "0" "" "" "g.93795970T>C" "" "pathogenic" "" "0000783563" "1" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.622A>T" "" "Germline" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000783564" "1" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783565" "1" "90" "8" "94768082" "94768082" "subst" "8.26194E-6" "00000" "TMEM67_000153" "g.94768082C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.300C>A" "" "Germline" "" "" "0" "" "" "g.93755854C>A" "" "pathogenic" "" "0000783566" "1" "90" "8" "94800112" "94800112" "subst" "0" "00000" "TMEM67_000161" "g.94800112C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1453C>T" "" "Germline" "" "" "0" "" "" "g.93787884C>T" "" "pathogenic" "" "0000783567" "1" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1843T>C" "" "Germline" "" "" "0" "" "" "g.93795970T>C" "" "pathogenic" "" "0000783568" "1" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1843T>C" "" "Germline" "" "" "0" "" "" "g.93795970T>C" "" "pathogenic" "" "0000783569" "1" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1538A>G" "" "Germline" "" "" "0" "" "" "g.93791282A>G" "" "pathogenic" "" "0000783570" "1" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1538A>G" "" "Germline" "" "" "0" "" "" "g.93791282A>G" "" "pathogenic" "" "0000783571" "3" "90" "8" "94792831" "94792831" "subst" "4.06514E-6" "00000" "TMEM67_000042" "g.94792831A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.725A>G" "" "Germline" "" "" "0" "" "" "g.93780603A>G" "" "pathogenic" "" "0000783572" "1" "90" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.245C>G" "" "Germline" "" "" "0" "" "" "g.93755799C>G" "" "pathogenic" "" "0000783573" "1" "90" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.245C>G" "" "Germline" "" "" "0" "" "" "g.93755799C>G" "" "pathogenic" "" "0000783574" "1" "90" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.245C>G" "" "Germline" "" "" "0" "" "" "g.93755799C>G" "" "pathogenic" "" "0000783575" "1" "90" "8" "94768026" "94768026" "subst" "0" "00000" "TMEM67_000150" "g.94768026C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.244C>T" "" "Germline" "" "" "0" "" "" "g.93755798C>T" "" "pathogenic" "" "0000783576" "3" "90" "8" "94792836" "94792836" "subst" "0" "00000" "TMEM67_000155" "g.94792836A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.730A>G" "" "Germline" "" "" "0" "" "" "g.93780608A>G" "" "pathogenic" "" "0000783577" "1" "90" "8" "94815880" "94815880" "subst" "4.06415E-6" "00000" "TMEM67_000117" "g.94815880C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2290C>T" "" "Germline" "" "" "0" "" "" "g.93803652C>T" "" "pathogenic" "" "0000783578" "1" "90" "8" "94817035" "94817035" "subst" "0" "00000" "TMEM67_000166" "g.94817035C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2368C>A" "" "Germline" "" "" "0" "" "" "g.93804807C>A" "" "pathogenic" "" "0000783579" "1" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.622A>T" "" "Germline" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000783588" "1" "70" "8" "94815914" "94815914" "dup" "0" "00000" "TMEM67_000040" "g.94815914dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2322+2dup" "" "Germline" "" "" "0" "" "" "g.93803686dup" "" "likely pathogenic" "" "0000783589" "1" "70" "8" "94794638" "94794638" "subst" "8.12797E-6" "00000" "TMEM67_000158" "g.94794638G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1081G>T" "" "Germline" "" "" "0" "" "" "g.93782410G>T" "" "likely pathogenic" "" "0000783590" "1" "70" "8" "94815914" "94815914" "dup" "0" "00000" "TMEM67_000040" "g.94815914dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2322+2dup" "" "Germline" "" "" "0" "" "" "g.93803686dup" "" "likely pathogenic" "" "0000783591" "1" "70" "8" "94809684" "94809684" "subst" "4.07169E-6" "00000" "TMEM67_000165" "g.94809684C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2086C>T" "" "Germline" "" "" "0" "" "" "g.93797456C>T" "" "likely pathogenic" "" "0000783593" "1" "50" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1843T>C" "" "Germline" "" "" "0" "" "" "g.93795970T>C" "" "VUS" "" "0000783727" "2" "90" "8" "94794683" "94794683" "subst" "0" "00000" "TMEM67_000159" "g.94794683C>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1126C>G" "" "Germline" "" "" "0" "" "" "g.93782455C>G" "" "pathogenic" "" "0000783728" "2" "90" "8" "94794630" "94794630" "subst" "0" "00000" "TMEM67_000083" "g.94794630C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1073C>T" "" "Germline" "" "" "0" "" "" "g.93782402C>T" "" "pathogenic" "" "0000783729" "2" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783730" "2" "90" "8" "94807731" "94807731" "subst" "8.12506E-6" "00000" "TMEM67_000001" "g.94807731T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1769T>C" "" "Germline" "" "" "0" "" "" "g.93795503T>C" "" "pathogenic" "" "0000783731" "2" "90" "8" "94807731" "94807731" "subst" "8.12506E-6" "00000" "TMEM67_000001" "g.94807731T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1769T>C" "" "Germline" "" "" "0" "" "" "g.93795503T>C" "" "pathogenic" "" "0000783732" "2" "90" "8" "94784840" "94784840" "subst" "8.1416E-6" "00000" "TMEM67_000039" "g.94784840G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.675G>A" "" "Germline" "" "" "0" "" "" "g.93772612G>A" "" "pathogenic" "" "0000783733" "2" "90" "8" "94821185" "94821185" "subst" "0" "00000" "TMEM67_000168" "g.94821185G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2556+1G>T" "" "Germline" "" "" "0" "" "" "g.93808957G>T" "" "pathogenic" "" "0000783734" "2" "90" "8" "94821185" "94821185" "subst" "0" "00000" "TMEM67_000168" "g.94821185G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2556+1G>T" "" "Germline" "" "" "0" "" "" "g.93808957G>T" "" "pathogenic" "" "0000783735" "2" "90" "8" "94777642" "94777642" "subst" "2.43736E-5" "00000" "TMEM67_000098" "g.94777642G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.515G>A" "" "Germline" "" "" "0" "" "" "g.93765414G>A" "" "pathogenic" "" "0000783736" "2" "90" "8" "94827593" "94827593" "subst" "0" "00000" "TMEM67_000171" "g.94827593T>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2825T>G" "" "Germline" "" "" "0" "" "" "g.93815365T>G" "" "pathogenic" "" "0000783737" "2" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00000" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1046T>C" "" "Germline" "" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "" "0000783738" "2" "90" "8" "94821150" "94821150" "subst" "0" "00000" "TMEM67_000148" "g.94821150A>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2522A>C" "" "Germline" "" "" "0" "" "" "g.93808922A>C" "" "pathogenic" "" "0000783739" "2" "90" "8" "94798513" "94798513" "subst" "4.0624E-6" "00000" "TMEM67_000019" "g.94798513C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1351C>T" "" "Germline" "" "" "0" "" "" "g.93786285C>T" "" "pathogenic" "" "0000783740" "2" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783741" "2" "90" "8" "94798483" "94798483" "subst" "2.03202E-5" "00000" "TMEM67_000160" "g.94798483C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1321C>T" "" "Germline" "" "" "0" "" "" "g.93786255C>T" "" "pathogenic" "" "0000783742" "2" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.755T>C" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic" "" "0000783743" "2" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1538A>G" "" "Germline" "" "" "0" "" "" "g.93791282A>G" "" "pathogenic" "" "0000783744" "2" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783745" "2" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2498T>C" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000783746" "2" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.755T>C" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic" "" "0000783747" "2" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.755T>C" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic" "" "0000783748" "2" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.755T>C" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic" "" "0000783749" "2" "90" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.579_580delAG" "" "Germline" "" "" "0" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000783750" "2" "90" "8" "94794672" "94794672" "subst" "0" "00000" "TMEM67_000043" "g.94794672C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1115C>A" "" "Germline" "" "" "0" "" "" "g.93782444C>A" "" "pathogenic" "" "0000783751" "2" "90" "8" "94827569" "94827569" "subst" "0" "00000" "TMEM67_000170" "g.94827569G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2801G>A" "" "Germline" "" "" "0" "" "" "g.93815341G>A" "" "pathogenic" "" "0000783752" "2" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1538A>G" "" "Germline" "" "" "0" "" "" "g.93791282A>G" "" "pathogenic" "" "0000783760" "2" "70" "8" "94768079" "94768079" "subst" "0" "00000" "TMEM67_000152" "g.94768079G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.297G>T" "" "Germline" "" "" "0" "" "" "g.93755851G>T" "" "likely pathogenic" "" "0000783761" "2" "70" "8" "94821394" "94821394" "subst" "4.09329E-6" "00000" "TMEM67_000169" "g.94821394G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2661+5G>A" "" "Germline" "" "" "0" "" "" "g.93809166G>A" "" "likely pathogenic" "" "0000783762" "2" "70" "8" "94794672" "94794672" "subst" "0" "00000" "TMEM67_000043" "g.94794672C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.1115C>A" "" "Germline" "" "" "0" "" "" "g.93782444C>A" "" "likely pathogenic" "" "0000783763" "2" "70" "8" "94815917" "94815917" "del" "4.06646E-6" "00000" "TMEM67_000127" "g.94815917del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2322+5delG" "" "Germline" "" "" "0" "" "" "g.93803689del" "" "likely pathogenic" "" "0000783764" "2" "50" "8" "94817038" "94817038" "subst" "0" "00000" "TMEM67_000167" "g.94817038G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_153704.5:c.2371G>A" "" "Germline" "" "" "0" "" "" "g.93804810G>A" "" "VUS" "" "0000785418" "0" "50" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.93795970T>C" "" "VUS" "" "0000785422" "0" "50" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "VUS" "" "0000785423" "0" "50" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.93808898T>C" "" "VUS" "" "0000786409" "1" "90" "8" "94767167" "94767167" "subst" "0.000447089" "00000" "TMEM67_000051" "g.94767167G>A" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93754939G>A" "" "pathogenic (recessive)" "" "0000786476" "2" "90" "8" "94794635" "94794635" "subst" "0.000365782" "00000" "TMEM67_000063" "g.94794635A>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93782407A>G" "" "pathogenic (recessive)" "" "0000791710" "0" "70" "8" "94811867" "94811867" "subst" "2.43793E-5" "00000" "TMEM67_000182" "g.94811867G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.2122G>A; p.A708T" "" "Germline" "?" "" "0" "" "" "g.93799639G>A" "" "likely pathogenic" "" "0000791711" "0" "70" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Brooks 2018:30055837}" "" "c.622A>T; p.R208*" "" "Germline" "?" "" "0" "" "" "g.93765617A>T" "" "likely pathogenic" "" "0000791712" "0" "70" "8" "94821150" "94821150" "subst" "0" "00000" "TMEM67_000148" "g.94821150A>C" "" "{PMID:Brooks 2018:30055837}" "" "c.2522A>C; p.Q841P" "" "Germline" "?" "" "0" "" "" "g.93808922A>C" "" "likely pathogenic" "" "0000791713" "0" "70" "8" "94827647" "94827647" "subst" "0" "00000" "TMEM67_000189" "g.94827647C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.2879C>T; p.A960V" "" "Germline" "?" "" "0" "" "" "g.93815419C>T" "" "likely pathogenic" "" "0000791714" "0" "70" "8" "94827572" "94827572" "del" "0" "00000" "TMEM67_000188" "g.94827572del" "" "{PMID:Brooks 2018:30055837}" "" "c.2802del; p.G934fs*959" "single heterozygous variant, no variant found on second allele" "Germline" "?" "" "0" "" "" "g.93815344del" "" "likely pathogenic" "" "0000791715" "3" "70" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.1843 T>C; p.C615R" "" "Germline" "?" "" "0" "" "" "g.93795970T>C" "" "likely pathogenic" "" "0000791716" "0" "70" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Brooks 2018:30055837}" "" "c.579_580del; p.G195Ifs*13" "" "Germline" "?" "" "0" "" "" "g.93765574_93765575del" "" "likely pathogenic" "" "0000791717" "0" "70" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.1843T>C; p.C615R" "" "Germline" "?" "" "0" "" "" "g.93795970T>C" "" "likely pathogenic" "" "0000791718" "0" "70" "8" "94794638" "94794638" "subst" "8.12797E-6" "00000" "TMEM67_000158" "g.94794638G>T" "" "{PMID:Brooks 2018:30055837}" "" "c.1081G>T; p.E451*" "" "Germline" "?" "" "0" "" "" "g.93782410G>T" "" "likely pathogenic" "" "0000791719" "0" "70" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.1843 T>C; p.C615R" "" "Germline" "?" "" "0" "" "" "g.93795970T>C" "" "likely pathogenic" "" "0000791720" "0" "70" "8" "94815914" "94815914" "dup" "0" "00000" "TMEM67_000040" "g.94815914dup" "" "{PMID:Brooks 2018:30055837}" "" "c.2322+2_2322+3insT" "" "Germline" "?" "" "0" "" "" "g.93803686dup" "" "likely pathogenic" "" "0000791721" "3" "70" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.1843 T>C; p.C615R" "" "Germline" "?" "" "0" "" "" "g.93795970T>C" "" "likely pathogenic" "" "0000791722" "0" "70" "8" "94827572" "94827572" "del" "0" "00000" "TMEM67_000188" "g.94827572del" "" "{PMID:Brooks 2018:30055837}" "" "c.2802del; p.G934fs*959" "single heterozygous variant, no variant found on second allele" "Germline" "?" "" "0" "" "" "g.93815344del" "" "likely pathogenic" "" "0000791723" "0" "70" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Brooks 2018:30055837}" "" "c. 2438 T>C; p.I833T" "Variant does not agree with the reference sequence. Ile833Thr actually results from 2498C>T, so 2438C>T was probably a typing mistake." "Germline" "?" "" "0" "" "" "g.93808898T>C" "RCV001310635.1" "likely pathogenic" "" "0000791724" "0" "70" "8" "94794683" "94794683" "subst" "0" "00000" "TMEM67_000159" "g.94794683C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.1126C>G; p.Q376E" "" "Germline" "?" "" "0" "" "" "g.93782455C>G" "" "likely pathogenic" "" "0000791725" "0" "70" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.2498T>C; p.I833T" "" "Germline" "?" "" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000791726" "0" "70" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Brooks 2018:30055837}" "" "c.579_580del; p.G195Ifs*13" "" "Germline" "?" "" "0" "" "" "g.93765574_93765575del" "" "likely pathogenic" "" "0000791727" "0" "70" "8" "94792875" "94792875" "subst" "0" "00000" "TMEM67_000156" "g.94792875A>G" "" "{PMID:Brooks 2018:30055837}" "" "c.769A>G; p.M257V" "single heterozygous variant, no variant found on second allele" "Germline" "?" "" "0" "" "" "g.93780647A>G" "" "likely pathogenic" "" "0000791728" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.755T>C; p.M252T" "" "Germline" "?" "" "0" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000791729" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.755T>C; p.M252T" "" "Germline" "?" "" "0" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000791730" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.755T>C; p.M252T" "" "Germline" "?" "" "0" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000791731" "0" "70" "8" "94821394" "94821394" "subst" "4.09329E-6" "00000" "TMEM67_000169" "g.94821394G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.2661+5G>A" "" "Germline" "?" "" "0" "" "" "g.93809166G>A" "" "likely pathogenic" "" "0000791805" "0" "70" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Brooks 2018:30055837}" "" "c.1538A>G; p.Y513C" "" "Germline" "?" "" "0" "" "" "g.93791282A>G" "" "likely pathogenic" "" "0000791806" "0" "70" "8" "94811885" "94811887" "del" "0" "00000" "TMEM67_000183" "g.94811885_94811887del" "" "{PMID:Brooks 2018:30055837}" "" "c.2140_2142del; p.S715del" "" "Germline" "?" "" "0" "" "" "g.93799657_93799659del" "" "likely pathogenic" "" "0000791807" "0" "70" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Brooks 2018:30055837}" "" "c.622A>T; p.R208*" "" "Germline" "?" "" "0" "" "" "g.93765617A>T" "" "likely pathogenic" "" "0000791808" "0" "70" "8" "94792854" "94792854" "subst" "8.12817E-6" "00000" "TMEM67_000174" "g.94792854G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.748G>A, p.G250R" "" "Germline" "?" "" "0" "" "" "g.93780626G>A" "" "likely pathogenic" "" "0000791809" "0" "70" "8" "94793182" "94793182" "subst" "0" "00000" "TMEM67_000175" "g.94793182C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.950C>G; p.T317R" "" "Germline" "?" "" "0" "" "" "g.93780954C>G" "" "likely pathogenic" "" "0000791810" "0" "70" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.755T>C; p.M252T" "" "Germline" "?" "" "0" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000791811" "0" "70" "8" "94821394" "94821394" "subst" "4.09329E-6" "00000" "TMEM67_000169" "g.94821394G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.2661+5G>A" "" "Germline" "?" "" "0" "" "" "g.93809166G>A" "" "likely pathogenic" "" "0000791812" "0" "70" "8" "94768004" "94768004" "subst" "0" "00000" "TMEM67_000172" "g.94768004A>T" "" "{PMID:Brooks 2018:30055837}" "" "c.224-2A>T" "" "Germline" "?" "" "0" "" "" "g.93755776A>T" "" "likely pathogenic" "" "0000791813" "0" "70" "8" "94768079" "94768079" "subst" "0" "00000" "TMEM67_000152" "g.94768079G>T" "" "{PMID:Brooks 2018:30055837}" "" "c.297G>T" "" "Germline" "?" "" "0" "" "" "g.93755851G>T" "" "likely pathogenic" "" "0000791814" "0" "70" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Brooks 2018:30055837}" "" "c.1538 A>G; p.T513C" "" "Germline" "?" "" "0" "" "" "g.93791282A>G" "" "likely pathogenic" "" "0000791815" "0" "70" "8" "94805527" "94805527" "subst" "0" "00000" "TMEM67_000162" "g.94805527A>G" "" "{PMID:Brooks 2018:30055837}" "" "c.1674+3A>G" "" "Germline" "?" "" "0" "" "" "g.93793299A>G" "" "likely pathogenic" "" "0000791816" "0" "70" "8" "94798513" "94798513" "subst" "4.0624E-6" "00000" "TMEM67_000019" "g.94798513C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.1351C>T; p.R451*" "" "Germline" "?" "" "0" "" "" "g.93786285C>T" "" "likely pathogenic" "" "0000791817" "0" "70" "8" "94793182" "94793182" "subst" "0" "00000" "TMEM67_000175" "g.94793182C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.950C>G; p.T317R" "" "Germline" "?" "" "0" "" "" "g.93780954C>G" "" "likely pathogenic" "" "0000791818" "0" "70" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.245C>G; p.P82R" "" "Germline" "?" "" "0" "" "" "g.93755799C>G" "" "likely pathogenic" "" "0000791819" "0" "70" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.245C>G; p.P82R" "" "Germline" "?" "" "0" "" "" "g.93755799C>G" "" "likely pathogenic" "" "0000791820" "0" "70" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.245C>G; p.P82R" "" "Germline" "?" "" "0" "" "" "g.93755799C>G" "" "likely pathogenic" "" "0000791821" "0" "70" "8" "94815914" "94815914" "dup" "0" "00000" "TMEM67_000040" "g.94815914dup" "" "{PMID:Brooks 2018:30055837}" "" "c.2322+2dup" "" "Germline" "?" "" "0" "" "" "g.93803686dup" "" "likely pathogenic" "" "0000791963" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1843T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791964" "0" "90" "8" "94792827" "94792830" "del" "0" "00000" "TMEM67_000173" "g.94792827_94792830delAATG" "" "{PMID:Otto 2011:21068128}" "" "c.755T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791965" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Otto 2011:21068128}" "" "c.755T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791966" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Otto 2011:21068128}" "" "C.2498T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791967" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1843T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791968" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Otto 2011:21068128}" "" "c.755T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791969" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1843T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791970" "0" "90" "8" "94809412" "94809412" "subst" "0" "00000" "TMEM67_000163" "g.94809412C>A" "" "{PMID:Otto 2011:21068128}" "" "c.1911C/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791971" "0" "90" "8" "94798549" "94798549" "subst" "8.12691E-6" "00000" "TMEM67_000139" "g.94798549C>T" "" "{PMID:Otto 2011:21068128}" "" "c.1387C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791972" "0" "90" "8" "94827659" "94827659" "subst" "0" "00000" "TMEM67_000190" "g.94827659C>T" "" "{PMID:Otto 2011:21068128}" "" "c.2891C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791973" "0" "90" "8" "94793893" "94793893" "subst" "0" "00000" "TMEM67_000176" "g.94793893A>C" "" "{PMID:Otto 2011:21068128}" "" "c.986A/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791974" "0" "90" "8" "94821185" "94821185" "subst" "0" "00000" "TMEM67_000187" "g.94821185G>A" "" "{PMID:Otto 2011:21068128}" "" "c.2556+1G/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791976" "0" "90" "8" "94793952" "94793952" "subst" "0" "00000" "TMEM67_000177" "g.94793952T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1045T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791978" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1843T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791979" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Otto 2011:21068128}" "" "c.622A/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791980" "0" "90" "8" "94811913" "94811913" "subst" "4.06289E-6" "00000" "TMEM67_000184" "g.94811913A>G" "" "{PMID:Otto 2011:21068128}" "" "c.2168A/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791981" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Otto 2011:21068128}" "" "c.622A/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791982" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1843T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791983" "0" "90" "8" "94798513" "94798513" "subst" "4.0624E-6" "00000" "TMEM67_000019" "g.94798513C>T" "" "{PMID:Otto 2011:21068128}" "" "c.1351C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791984" "0" "90" "8" "94809616" "94809616" "subst" "0" "00000" "TMEM67_000181" "g.94809616T>C" "" "{PMID:Otto 2011:21068128}" "" "c.2018T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792005" "0" "90" "8" "94798496" "94798496" "subst" "2.03143E-5" "00000" "TMEM67_000178" "g.94798496T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1334T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792006" "0" "90" "8" "94809412" "94809412" "subst" "0" "00000" "TMEM67_000179" "g.94809412C>T" "" "{PMID:Otto 2011:21068128}" "" "c.1911C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792007" "0" "90" "8" "94809607" "94809607" "subst" "0.000186872" "00000" "TMEM67_000180" "g.94809607C>T" "" "{PMID:Otto 2011:21068128}" "" "c.2009C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792008" "0" "90" "8" "94817041" "94817041" "subst" "0" "00000" "TMEM67_000185" "g.94817041A>G" "" "{PMID:Otto 2011:21068128}" "" "c.2374A/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792009" "0" "90" "8" "94821089" "94821089" "subst" "0" "00000" "TMEM67_000186" "g.94821089G>A" "" "{PMID:Otto 2011:21068128}" "" "c.2461G/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792010" "0" "90" "8" "94821089" "94821089" "subst" "0" "00000" "TMEM67_000186" "g.94821089G>A" "" "{PMID:Otto 2011:21068128}" "" "c.2461G/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792267" "0" "90" "8" "94807662" "94807662" "subst" "7.71749E-5" "00000" "TMEM67_000112" "g.94807662A>G" "" "{PMID:_Audo-2012:22277662}" "" "c.1700A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000803760" "0" "50" "8" "94767265" "94767265" "subst" "0" "01943" "TMEM67_000191" "g.94767265C>A" "" "" "" "TMEM67(NM_153704.5):c.123C>A (p.F41L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803761" "0" "90" "8" "94777876" "94777876" "subst" "5.68787E-5" "02325" "TMEM67_000008" "g.94777876T>G" "" "" "" "TMEM67(NM_153704.6):c.651+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803762" "0" "30" "8" "94784801" "94784801" "subst" "3.66733E-5" "02330" "TMEM67_000192" "g.94784801A>G" "" "" "" "TMEM67(NM_153704.6):c.652-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803763" "0" "30" "8" "94792984" "94792984" "subst" "0.000191082" "01943" "TMEM67_000105" "g.94792984A>G" "" "" "" "TMEM67(NM_153704.5):c.869+9A>G, TMEM67(NM_153704.6):c.869+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803764" "0" "70" "8" "94794630" "94794630" "subst" "0" "02325" "TMEM67_000083" "g.94794630C>T" "" "" "" "TMEM67(NM_153704.6):c.1073C>T (p.P358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803765" "0" "90" "8" "94794672" "94794672" "subst" "0" "02326" "TMEM67_000043" "g.94794672C>A" "" "" "" "TMEM67(NM_153704.5):c.1115C>A (p.T372K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803766" "0" "30" "8" "94798541" "94798541" "subst" "0.000292531" "02326" "TMEM67_000111" "g.94798541G>C" "" "" "" "TMEM67(NM_153704.5):c.1379G>C (p.R460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803767" "0" "50" "8" "94821126" "94821126" "subst" "3.25261E-5" "01804" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811074" "0" "70" "8" "94811986" "94811986" "subst" "0.00193531" "00000" "TMEM67_000075" "g.94811986G>A" "" "{PMID:Leitch-2008:18327255}" "" "MKS3: c2241G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811076" "20" "10" "8" "94784818" "94784818" "subst" "0.000158676" "00000" "TMEM67_000073" "g.94784818G>C" "0/96 ethnically matched controls" "{PMID:Leitch-2008:18327255}" "" "MKS3: G218A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811077" "20" "70" "8" "94793190" "94793190" "subst" "0.00036991" "00000" "TMEM67_000062" "g.94793190A>T" "0/96 ethnically matched controls" "{PMID:Leitch-2008:18327255}" "" "MKS3: S320C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813983" "0" "50" "8" "94800116" "94800116" "subst" "0" "00000" "TMEM67_000193" "g.94800116A>G" "" "{PMID:Redin-2012:22773737}" "" "c.[1457A>G];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817518" "3" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Knopp 2015:26003401}" "" "MKS3:p.Gly195ilefs*13" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817522" "3" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Knopp 2015:26003401}" "" "MKS3:p.Gln467*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817541" "3" "30" "8" "94792887" "94792887" "subst" "0.0151486" "00000" "TMEM67_000081" "g.94792887G>A" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.781G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817542" "3" "30" "8" "94808165" "94808165" "subst" "0.639188" "00000" "TMEM67_000064" "g.94808165A>G" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.1810A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817543" "3" "30" "8" "94817064" "94817064" "subst" "0.0154566" "00000" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.2397T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817544" "3" "30" "8" "94809653" "94809653" "subst" "0" "00000" "TMEM67_000196" "g.94809653T>C" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.2055T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817545" "3" "30" "8" "94815858" "94815858" "subst" "0" "00000" "TMEM67_000197" "g.94815858G>A" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.2268G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817546" "3" "30" "8" "94829257" "94829257" "del" "0" "00000" "TMEM67_000200" "g.94829257del" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.3574-9del" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817547" "3" "30" "8" "94830929" "94830929" "subst" "0" "00000" "TMEM67_000202" "g.94830929G>A" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.5237G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817548" "3" "30" "8" "94832093" "94832093" "subst" "0" "00000" "TMEM67_000203" "g.94832093T>C" "" "{PMID:Knopp 2015:26003401}" "" "MKS3/JBTS6:c.6401T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817549" "3" "50" "8" "94832767" "94832767" "subst" "0" "00000" "TMEM67_000204" "g.94832767A>C" "" "{PMID:Knopp 2015:26003401}" "" "MKS4/JBTS5:c.7075A>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817550" "3" "70" "8" "94784850" "94784852" "del" "0" "00000" "TMEM67_000194" "g.94784850_94784852delGAA" "" "{PMID:Knopp 2015:26003401}" "" "MKS6/JBTS9:c.685_687delGAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817551" "3" "30" "8" "94792883" "94792883" "subst" "0" "00000" "TMEM67_000195" "g.94792883C>T" "" "{PMID:Knopp 2015:26003401}" "" "MKS6/JBTS9:c.777C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817552" "3" "30" "8" "94828867" "94828867" "subst" "0" "00000" "TMEM67_000198" "g.94828867T>C" "" "{PMID:Knopp 2015:26003401}" "" "MKS6/JBTS9:c.3183-8T>C(p.?)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817553" "3" "30" "8" "94828893" "94828893" "subst" "0" "00000" "TMEM67_000199" "g.94828893G>A" "" "{PMID:Knopp 2015:26003401}" "" "MKS6/JBTS9:c.3201G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817554" "3" "90" "8" "94830025" "94830025" "subst" "0" "00000" "TMEM67_000201" "g.94830025C>T" "" "{PMID:Knopp 2015:26003401}" "" "MKS6/JBTS9:c.4333C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817604" "0" "90" "8" "94776078" "94776079" "del" "0" "00000" "TMEM67_000047" "g.94776078_94776079del" "" "{PMID:Watson 2016:26729329}" "" "c.415_416del (p.Asp139Hisfs*2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817605" "0" "90" "8" "94776078" "94776079" "del" "0" "00000" "TMEM67_000047" "g.94776078_94776079del" "" "{PMID:Watson 2016:26729329}" "" "c.415_416del (p.Asp139Hisfs*2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817606" "0" "90" "8" "94777641" "94777641" "subst" "8.12466E-6" "00000" "TMEM67_000049" "g.94777641C>T" "" "{PMID:Watson 2016:26729329}" "" "c.514C>T (p.Arg172*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817607" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Watson 2016:26729329}" "" "c.622A>T (p.Arg208*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817608" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Watson 2016:26729329}" "" "c.579_580del (p.Gly195Ilefs*13)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817609" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Watson 2016:26729329}" "" "c.579_580del (p.Gly195Ilefs*13)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817610" "0" "90" "8" "94798481" "94798481" "subst" "5.69022E-5" "00000" "TMEM67_000017" "g.94798481G>A" "" "{PMID:Watson 2016:26729329}" "" "c.1319G>A (p.Arg440Gln)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817611" "0" "90" "8" "94798481" "94798481" "subst" "5.69022E-5" "00000" "TMEM67_000017" "g.94798481G>A" "" "{PMID:Watson 2016:26729329}" "" "c.1319G>A (p.Arg440Gln)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817612" "0" "90" "8" "94809462" "94809462" "subst" "0" "00000" "TMEM67_000050" "g.94809462G>A" "" "{PMID:Watson 2016:26729329}" "" "c.1960+1G>A (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817613" "0" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00000" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Watson 2016:26729329}" "" "c.1046T>C (p.Leu349Ser)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817846" "3" "70" "8" "94792831" "94792831" "subst" "4.06514E-6" "00006" "TMEM67_000042" "g.94792831A>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.93780603A>G" "" "likely pathogenic (recessive)" "ACMG" "0000817856" "3" "70" "8" "94792831" "94792831" "subst" "4.06514E-6" "00006" "TMEM67_000042" "g.94792831A>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.93780603A>G" "" "likely pathogenic (recessive)" "ACMG" "0000818182" "0" "70" "8" "94770727" "94770727" "subst" "4.0622E-6" "00000" "TMEM67_000128" "g.94770727A>G" "" "{PMID:Enokizono 2017:28431631}" "" "c.329A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818183" "0" "70" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Enokizono 2017:28431631}" "" "c.579_580delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818249" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Summers 2017:28497568}" "" "c.1843T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818250" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Summers 2017:28497568}" "" "c.755T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818253" "0" "90" "8" "94821150" "94821150" "subst" "0" "00000" "TMEM67_000148" "g.94821150A>C" "" "{PMID:Summers 2017:28497568}" "" "c.2522A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818254" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Summers 2017:28497568}" "" "c.622A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818257" "0" "90" "8" "94768004" "94768004" "subst" "0" "00000" "TMEM67_000172" "g.94768004A>T" "" "{PMID:Summers 2017:28497568}" "" "c.224-2A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818258" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Summers 2017:28497568}" "" "c.1843T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818259" "3" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Summers 2017:28497568}" "" "c.1843T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818260" "3" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00000" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Summers 2017:28497568}" "" "c.1843T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818261" "0" "90" "8" "94827570" "94827570" "del" "0" "00000" "TMEM67_000205" "g.94827570delA" "" "{PMID:Summers 2017:28497568}" "" "c.2802delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818262" "0" "90" "8" "94827570" "94827570" "del" "0" "00000" "TMEM67_000205" "g.94827570delA" "" "{PMID:Summers 2017:28497568}" "" "c.2802delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818263" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Summers 2017:28497568}" "" "c.2498T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818264" "0" "90" "8" "94798513" "94798513" "subst" "4.0624E-6" "00000" "TMEM67_000019" "g.94798513C>T" "" "{PMID:Summers 2017:28497568}" "" "c.1351C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818265" "0" "90" "8" "94792875" "94792875" "subst" "0" "00000" "TMEM67_000156" "g.94792875A>G" "" "{PMID:Summers 2017:28497568}" "" "c.769A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818285" "0" "90" "8" "94821394" "94821394" "subst" "4.09329E-6" "00000" "TMEM67_000169" "g.94821394G>A" "" "{PMID:Summers 2017:28497568}" "" "c.2661+5G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818286" "0" "90" "8" "94815914" "94815914" "dup" "0" "00000" "TMEM67_000040" "g.94815914dup" "" "{PMID:Summers 2017:28497568}" "" "c.2322+2dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818299" "0" "90" "8" "94821394" "94821394" "subst" "4.09329E-6" "00000" "TMEM67_000169" "g.94821394G>A" "" "{PMID:Summers 2017:28497568}" "" "c.2661+5G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818300" "0" "90" "8" "94794638" "94794638" "subst" "8.12797E-6" "00000" "TMEM67_000158" "g.94794638G>T" "" "{PMID:Summers 2017:28497568}" "" "c.1081G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818356" "0" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "00000" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Summers 2017:28497568}" "" "c.1538 A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818357" "0" "90" "8" "94821126" "94821126" "subst" "3.25261E-5" "00000" "TMEM67_000044" "g.94821126T>C" "" "{PMID:Summers 2017:28497568}" "" "c.2498T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818358" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00000" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Summers 2017:28497568}" "" "c.622A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818359" "0" "90" "8" "94811885" "94811887" "del" "0" "00000" "TMEM67_000183" "g.94811885_94811887del" "" "{PMID:Summers 2017:28497568}" "" "c.2140_2142del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818360" "0" "90" "8" "94792854" "94792854" "subst" "8.12817E-6" "00000" "TMEM67_000174" "g.94792854G>A" "" "{PMID:Summers 2017:28497568}" "" "c.748G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818361" "0" "90" "8" "94827647" "94827647" "subst" "0" "00000" "TMEM67_000189" "g.94827647C>T" "" "{PMID:Summers 2017:28497568}" "" "c.2879C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818364" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Summers 2017:28497568}" "" "c.579_580del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818365" "0" "90" "8" "94793182" "94793182" "subst" "0" "00000" "TMEM67_000175" "g.94793182C>G" "" "{PMID:Summers 2017:28497568}" "" "c.950C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818366" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Summers 2017:28497568}" "" "c.579_580del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818367" "0" "90" "8" "94793182" "94793182" "subst" "0" "00000" "TMEM67_000175" "g.94793182C>G" "" "{PMID:Summers 2017:28497568}" "" "c.950C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818368" "0" "90" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Summers 2017:28497568}" "" "c.245C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818369" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Summers 2017:28497568}" "" "c.755T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818370" "0" "90" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Summers 2017:28497568}" "" "c.245C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818371" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Summers 2017:28497568}" "" "c.755T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818372" "0" "90" "8" "94768027" "94768027" "subst" "0" "00000" "TMEM67_000151" "g.94768027C>G" "" "{PMID:Summers 2017:28497568}" "" "c.245C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818373" "0" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00000" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Summers 2017:28497568}" "" "c.755T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000823308" "21" "50" "8" "94784817" "94784817" "subst" "0" "02494" "TMEM67_000206" "g.94784817G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000823309" "11" "70" "8" "94821149" "94821149" "subst" "4.0662E-6" "02494" "TMEM67_000207" "g.94821149C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000828523" "2" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00000" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "TMEM67, c.1046T>C, p.Leu349Ser, heterozygous | heterozygous" "" "Germline" "yes" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "ACMG" "0000828533" "0" "50" "8" "94798471" "94798471" "subst" "0.00202075" "00000" "TMEM67_000109" "g.94798471C>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "TMEM67, c.1309C>G, p.Leu437Val, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.93786243C>G" "" "VUS" "ACMG" "0000834107" "21" "50" "8" "94797451" "94797451" "subst" "0" "00006" "TMEM67_000208" "g.94797451G>A" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1133(exon12)G>A" "" "Germline" "" "rs1418271199" "0" "" "" "g.93785223G>A" "" "VUS" "ACMG" "0000834164" "11" "70" "8" "94817045" "94817045" "delins" "0" "00006" "TMEM67_000209" "g.94817045delinsAGT" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.2378(exon23)delCinsAGT" "" "Germline" "" "" "0" "" "" "g.93804817delinsAGT" "" "likely pathogenic" "ACMG" "0000845914" "0" "90" "8" "94768056" "94768056" "subst" "1.23967E-5" "00000" "TMEM67_000132" "g.94768056G>A" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c. 274G>A, p.Gly92Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93755828G>A" "" "pathogenic" "" "0000845915" "0" "90" "8" "94798515" "94798515" "del" "1.2187E-5" "00000" "TMEM67_000210" "g.94798515del" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c.1353delA, p.Glu452Lysfs*4" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93786287del" "" "pathogenic" "" "0000845920" "1" "90" "8" "94798515" "94798515" "del" "1.2187E-5" "00000" "TMEM67_000210" "g.94798515del" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c.1353delA, p.Glu452Lysfs*4" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93786287del" "" "pathogenic" "" "0000845921" "2" "90" "8" "94809694" "94809694" "subst" "0" "00000" "TMEM67_000211" "g.94809694T>C" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c.2096T>C, p.Leu699Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93797466T>C" "" "pathogenic" "" "0000845922" "0" "90" "8" "94768056" "94768056" "subst" "1.23967E-5" "00000" "TMEM67_000132" "g.94768056G>A" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c.274G>A, p.Gly92Arg p." "heterozygous" "Unknown" "?" "" "0" "" "" "g.93755828G>A" "" "pathogenic" "" "0000845923" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "00000" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c.579_580delAG, Gly195Ilefs*13" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000845936" "0" "90" "8" "94792831" "94792831" "subst" "4.06514E-6" "00000" "TMEM67_000042" "g.94792831A>G" "" "{PMID:Kang 2016:27491411}" "" "TMEM67/MKS3/ c.725A>G, p.Asn242Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93780603A>G" "" "pathogenic" "" "0000845937" "0" "90" "8" "94822109" "94822109" "del" "0" "00000" "TMEM67_000212" "g.94822109del" "" "{PMID:Kang 2016:27491411}" "" "NPHP11 c.2758delT, p.Tyr920Thrfs*40" "heterozygous" "Unknown" "?" "" "0" "" "" "g.93809881del" "" "pathogenic" "" "0000852016" "0" "30" "8" "94768112" "94768112" "subst" "4.33219E-6" "02326" "TMEM67_000213" "g.94768112T>A" "" "" "" "TMEM67(NM_153704.5):c.312+18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852017" "0" "30" "8" "94794707" "94794707" "subst" "8.55049E-5" "02326" "TMEM67_000215" "g.94794707A>C" "" "" "" "TMEM67(NM_153704.5):c.1131+19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852018" "0" "50" "8" "94808177" "94808177" "subst" "7.72E-5" "01943" "TMEM67_000216" "g.94808177C>G" "" "" "" "TMEM67(NM_153704.5):c.1822C>G (p.R608G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861300" "0" "30" "8" "94772105" "94772105" "subst" "0" "01943" "TMEM67_000214" "g.94772105G>T" "" "" "" "TMEM67(NM_001142301.1):c.47G>T (p.R16L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882639" "1" "90" "8" "94768015" "94768015" "subst" "0" "00000" "TMEM67_000217" "g.94768015G>A" "" "{PMID:Barabino 2020:32160518}" "" "TMEM67 c.233G>A, p.(Cys78Tyr)" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.93755787G>A" "" "pathogenic" "" "0000882640" "2" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00000" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Barabino 2020:32160518}" "" "TMEM67 c.1046T>C, p.(Leu349Ser)" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "" "0000888476" "0" "90" "8" "94770783" "94770783" "del" "0" "02327" "TMEM67_000218" "g.94770783del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888477" "0" "30" "8" "94772179" "94772179" "subst" "0.00113051" "01804" "TMEM67_000219" "g.94772179G>T" "" "" "" "TMEM67(NM_001142301.1):c.121G>T (p.(Ala41Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888478" "0" "70" "8" "94777876" "94777876" "subst" "5.68787E-5" "02327" "TMEM67_000008" "g.94777876T>G" "" "" "" "TMEM67(NM_153704.6):c.651+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888479" "0" "30" "8" "94792965" "94792965" "subst" "8.12889E-6" "02326" "TMEM67_000220" "g.94792965A>G" "" "" "" "TMEM67(NM_153704.5):c.859A>G (p.I287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888480" "0" "50" "8" "94808128" "94808128" "subst" "4.08988E-6" "01804" "TMEM67_000221" "g.94808128G>A" "" "" "" "TMEM67(NM_001142301.1):c.1531-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888481" "0" "10" "8" "94809608" "94809608" "subst" "0.000255929" "02326" "TMEM67_000065" "g.94809608A>G" "" "" "" "TMEM67(NM_153704.5):c.2010A>G (p.T670=), TMEM67(NM_153704.6):c.2010A>G (p.T670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924911" "0" "30" "8" "94767190" "94767190" "subst" "8.12137E-6" "02330" "TMEM67_000222" "g.94767190C>G" "" "" "" "TMEM67(NM_153704.6):c.48C>G (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924912" "0" "90" "8" "94808198" "94808198" "subst" "0.000158441" "01804" "TMEM67_000024" "g.94808198T>C" "" "" "" "TMEM67(NM_001142301.1):c.1600T>C (p.(Cys534Arg)), TMEM67(NM_153704.5):c.1843T>C (p.C615R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929486" "0" "50" "8" "94800068" "94800068" "subst" "4.06289E-6" "01804" "TMEM67_000223" "g.94800068A>G" "" "" "" "TMEM67(NM_001142301.1):c.1170-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933939" "0" "90" "8" "94798515" "94798515" "del" "1.2187E-5" "04580" "TMEM67_000210" "g.94798515del" "" "Kim 2023 submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93786287del" "{CV:225493}" "pathogenic" "ACMG" "0000933940" "0" "70" "8" "94768026" "94768026" "subst" "0" "04580" "TMEM67_000150" "g.94768026C>T" "" "Kim 2023 submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93755798C>T" "{CV:217715}" "likely pathogenic" "ACMG" "0000949124" "0" "50" "8" "94777642" "94777642" "subst" "0" "02325" "TMEM67_000229" "g.94777642G>C" "" "" "" "TMEM67(NM_153704.6):c.515G>C (p.R172P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949125" "0" "50" "8" "94798471" "94798471" "subst" "0.00202075" "02325" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V), TMEM67(NM_153704.6):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951831" "2" "90" "8" "94793120" "94793120" "subst" "8.12691E-6" "00006" "TMEM67_000013" "g.94793120G>T" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93780892G>T" "" "pathogenic (recessive)" "" "0000951832" "1" "90" "8" "94792840" "94792840" "subst" "0" "00006" "TMEM67_000009" "g.94792840C>T" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93780612C>T" "" "pathogenic (recessive)" "" "0000951834" "1" "90" "8" "94767303" "94767303" "subst" "0" "00006" "TMEM67_000002" "g.94767303A>G" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93755075A>G" "" "pathogenic (recessive)" "" "0000951835" "2" "90" "8" "94803510" "94803510" "subst" "8.14883E-6" "00006" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93791282A>G" "" "pathogenic (recessive)" "" "0000951836" "1" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00006" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic (recessive)" "" "0000951837" "2" "90" "8" "94808198" "94808198" "subst" "0.000158441" "00006" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93795970T>C" "" "pathogenic (recessive)" "" "0000951838" "1" "90" "8" "94798481" "94798481" "subst" "5.69022E-5" "00006" "TMEM67_000017" "g.94798481G>A" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93786253G>A" "" "pathogenic (recessive)" "" "0000951839" "2" "90" "8" "94827665" "94827665" "subst" "0" "00006" "TMEM67_000027" "g.94827665T>C" "" "{PMID:Tallila 2008:19466712}" "" "" "" "Germline" "" "" "0" "" "" "g.93815437T>C" "" "pathogenic (recessive)" "" "0000951875" "3" "90" "8" "94770781" "94770782" "del" "0" "00006" "TMEM67_000004" "g.94770781_94770782del" "" "{PMID:Smith 2006:16415887}" "" "383-384delAC" "" "Germline" "" "" "0" "" "" "g.93758553_93758554del" "" "pathogenic (recessive)" "" "0000951877" "3" "90" "8" "94777871" "94777871" "del" "0" "00006" "TMEM67_000007" "g.94777871del" "" "{PMID:Smith 2006:16415887}" "" "647delA" "" "Germline" "" "" "0" "" "" "g.93765643del" "" "pathogenic (recessive)" "" "0000951878" "3" "90" "8" "94793100" "94793100" "subst" "0" "00006" "TMEM67_000011" "g.94793100A>G" "" "{PMID:Smith 2006:16415887}" "" "INV8-2A>G" "" "Germline" "" "" "0" "" "" "g.93780872A>G" "" "pathogenic (recessive)" "" "0000951879" "3" "90" "8" "94794684" "94794684" "subst" "0" "00006" "TMEM67_000016" "g.94794684A>C" "" "{PMID:Smith 2006:16415887}" "" "" "" "Germline" "" "" "0" "" "" "g.93782456A>C" "" "pathogenic (recessive)" "" "0000951880" "3" "90" "8" "94803548" "94803548" "subst" "0" "00006" "TMEM67_000021" "g.94803548G>A" "" "{PMID:Smith 2006:16415887}" "" "INV15+1G>A" "" "Germline" "yes" "" "0" "" "" "g.93791320G>A" "" "pathogenic (recessive)" "" "0000951881" "3" "90" "8" "94803548" "94803548" "subst" "0" "00006" "TMEM67_000021" "g.94803548G>A" "" "{PMID:Smith 2006:16415887}" "" "INV15+1G>A" "" "Germline" "" "" "0" "" "" "g.93791320G>A" "" "pathogenic (recessive)" "" "0000951882" "1" "90" "8" "94798498" "94798498" "subst" "0" "00006" "TMEM67_000018" "g.94798498G>C" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93786270G>C" "" "pathogenic (recessive)" "" "0000951883" "11" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00006" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93781725T>C" "" "pathogenic (recessive)" "" "0000951884" "3" "90" "8" "94793973" "94793973" "del" "0" "00006" "TMEM67_000015" "g.94793973del" "" "{PMID:Khaddour 2007:17397051}" "" "1065+1delG" "unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.93781745del" "" "pathogenic (recessive)" "" "0000951885" "21" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00006" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93765617A>T" "" "pathogenic (recessive)" "" "0000951886" "1" "90" "8" "94777876" "94777876" "subst" "5.68787E-5" "00006" "TMEM67_000008" "g.94777876T>G" "" "{PMID:Khaddour 2007:17397051}" "" "651+2G>T" "" "Germline" "" "" "0" "" "" "g.93765648T>G" "" "pathogenic (recessive)" "" "0000951887" "3" "90" "8" "94807636" "94811987" "del" "0" "00006" "TMEM67_000023" "g.(94805525_94807636)_(94811987_94815831)del" "" "{PMID:Khaddour 2007:17397051}" "" "1675-?_2241+?del" "" "Germline" "" "" "0" "" "" "g.(93793297_93795408)_(93799759_93803603)del" "" "pathogenic (recessive)" "" "0000951888" "3" "90" "8" "94803548" "94803548" "subst" "0" "00006" "TMEM67_000021" "g.94803548G>A" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93791320G>A" "" "pathogenic (recessive)" "" "0000951889" "3" "90" "8" "94803548" "94803548" "subst" "0" "00006" "TMEM67_000021" "g.94803548G>A" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93791320G>A" "" "pathogenic (recessive)" "" "0000951890" "3" "90" "8" "94793100" "94793100" "subst" "0" "00006" "TMEM67_000011" "g.94793100A>G" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93780872A>G" "" "pathogenic (recessive)" "" "0000951891" "2" "90" "8" "94817106" "94817106" "subst" "3.66202E-5" "00006" "TMEM67_000025" "g.94817106G>A" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93804878G>A" "" "pathogenic (recessive)" "" "0000951892" "21" "90" "8" "94821285" "94821285" "subst" "0" "00006" "TMEM67_000026" "g.94821285A>T" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93809057A>T" "" "pathogenic (recessive)" "" "0000951893" "11" "90" "8" "94792861" "94792861" "subst" "8.53263E-5" "00006" "TMEM67_000010" "g.94792861T>C" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93780633T>C" "" "pathogenic (recessive)" "" "0000951894" "2" "90" "8" "94798481" "94798481" "subst" "5.69022E-5" "00006" "TMEM67_000017" "g.94798481G>A" "" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93786253G>A" "" "pathogenic (recessive)" "" "0000951895" "0" "10" "8" "94767326" "94767326" "subst" "0" "00006" "TMEM67_000224" "g.94767326T>C" "2/200" "{PMID:Khaddour 2007:17397051}" "" "C62C" "" "Germline" "" "" "0" "" "" "g.93755098T>C" "" "benign" "" "0000951896" "0" "10" "8" "94776187" "94776187" "subst" "0.0012764" "00006" "TMEM67_000227" "g.94776187G>T" "1/224" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93763959G>T" "" "benign" "" "0000951897" "0" "10" "8" "94777615" "94777615" "subst" "0.00965446" "00006" "TMEM67_000228" "g.94777615T>C" "1/210" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93765387T>C" "" "benign" "" "0000951898" "0" "10" "8" "94792887" "94792887" "subst" "0.0151486" "00006" "TMEM67_000081" "g.94792887G>A" "6/252" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93780659G>A" "" "benign" "" "0000951899" "0" "10" "8" "94793073" "94793073" "subst" "0.00444282" "00006" "TMEM67_000230" "g.94793073A>G" "2/256" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93780845A>G" "" "benign" "" "0000951900" "0" "10" "8" "94793727" "94793727" "del" "0" "00006" "TMEM67_000232" "g.94793727del" "4/222" "{PMID:Khaddour 2007:17397051}" "" "979-159delT" "" "Germline" "" "" "0" "" "" "g.93781499del" "" "benign" "" "0000951901" "0" "10" "8" "94793779" "94793779" "subst" "0" "00006" "TMEM67_000233" "g.94793779A>G" "2/222" "{PMID:Khaddour 2007:17397051}" "" "" "" "Germline" "" "" "0" "" "" "g.93781551A>G" "" "benign" "" "0000951902" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "00006" "TMEM67_000074" "g.94794620C>T" "123/252" "{PMID:Khaddour 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record" "" "" "" "" "" "" "" "likely benign" "" "0000965072" "0" "50" "8" "94797504" "94797504" "subst" "0" "02327" "TMEM67_000246" "g.94797504G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965073" "0" "50" "8" "94798480" "94798480" "subst" "4.06431E-6" "01804" "TMEM67_000247" "g.94798480C>T" "" "" "" "TMEM67(NM_153704.5):c.1318C>T (p.(Arg440Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978294" "0" "50" "8" "94767159" "94767159" "subst" "0" "01804" "TMEM67_000248" "g.94767159G>A" "" "" "" "TMEM67(NM_153704.6):c.17G>A (p.(Gly6Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978295" "0" "30" "8" "94768003" "94768003" "del" "0" "01804" "TMEM67_000249" "g.94768003del" "" "" "" "TMEM67(NM_153704.5):c.224-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978296" "0" "70" "8" "94777802" "94777803" "del" "0.000194978" "01804" "TMEM67_000038" "g.94777802_94777803del" "" "" "" "TMEM67(NM_153704.6):c.579_580del (p.(Gly195IlefsTer13)), TMEM67(NM_153704.6):c.579_580delAG (p.G195Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978297" "0" "50" "8" "94809607" "94809607" "subst" "0.000186872" "01804" "TMEM67_000180" "g.94809607C>T" "" "" "" "TMEM67(NM_153704.5):c.2009C>T (p.(Thr670Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978298" "0" "90" "8" "94817106" "94817106" "subst" "3.66202E-5" "01804" "TMEM67_000025" "g.94817106G>A" "" "" "" "TMEM67(NM_153704.6):c.2439G>A (p.(Ala813=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000987940" "0" "70" "8" "94821092" "94821092" "subst" "0" "03779" "TMEM67_000250" "g.94821092T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000997353" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "01804" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*, p.(Arg208*)), TMEM67(NM_153704.6):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014464" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02329" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*, p.(Arg208*)), TMEM67(NM_153704.6):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014465" "0" "70" "8" "94777851" "94777851" "subst" "1.2185E-5" "02329" "TMEM67_000103" "g.94777851T>C" "" "" "" "TMEM67(NM_153704.6):c.628T>C (p.S210P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025551" "0" "30" "8" "94811906" "94811906" "subst" "0.0027711" "02326" "TMEM67_000116" "g.94811906C>T" "" "" "" "TMEM67(NM_001142301.1):c.1918C>T (p.(Pro640Ser)), TMEM67(NM_153704.5):c.2161C>T (p.P721S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027555" "1" "70" "8" "94767296" "94767298" "del" "0" "00006" "TMEM67_000251" "g.94767296_94767298del" "" "{PMID:Boissel 2017:29261186}" "" "149_151del" "" "Germline" "" "" "0" "" "" "g.93755068_93755070del" "" "VUS" "" "0001027556" "1" "70" "8" "94768015" "94768015" "subst" "0" "00006" "TMEM67_000217" "g.94768015G>A" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.93755787G>A" "" "likely pathogenic (recessive)" "" "0001027573" "2" "70" "8" "94805524" "94805524" "subst" "4.06207E-6" "00006" "TMEM67_000252" "g.94805524G>A" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.93793296G>A" "" "VUS" "" "0001027574" "2" "90" "8" "94807680" "94807680" "del" "0" "00006" "TMEM67_000253" "g.94807680del" "" "{PMID:Boissel 2017:29261186}" "" "1717delA" "" "Germline" "" "" "0" "" "" "g.93795452del" "" "pathogenic (recessive)" "" "0001037077" "0" "50" "8" "94767266" "94767266" "subst" "4.46661E-5" "01804" "TMEM67_000054" "g.94767266C>G" "" "" "" "TMEM67(NM_153704.6):c.124C>G (p.P42A, p.(Pro42Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037078" "0" "50" "8" "94767267" "94767272" "dup" "0" "01804" "TMEM67_000254" "g.94767267_94767272dup" "" "" "" "TMEM67(NM_153704.6):c.125_130dup (p.(Pro42_Phe43dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037079" "0" "50" "8" "94768104" "94768104" "subst" "0" "01804" "TMEM67_000255" "g.94768104A>G" "" "" "" "TMEM67(NM_153704.6):c.312+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037081" "0" "50" "8" "94772225" "94772225" "subst" "2.21533E-5" "01804" "TMEM67_000078" "g.94772225A>G" "" "" "" "TMEM67(NM_001142301.1):c.163+4A>G, TMEM67(NM_153704.6):c.406+1421A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037082" "0" "50" "8" "94784818" "94784818" "subst" "0.000158676" "01804" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A), TMEM67(NM_153704.6):c.653G>C (p.(Gly218Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037083" "0" "50" "8" "94793190" "94793190" "subst" "0.00036991" "01804" "TMEM67_000062" "g.94793190A>T" "" "" "" "TMEM67(NM_153704.5):c.958A>T (p.S320C), TMEM67(NM_153704.6):c.958A>T (p.(Ser320Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037084" "0" "50" "8" "94805495" "94805495" "subst" "5.6856E-5" "01804" "TMEM67_000256" "g.94805495C>T" "" "" "" "TMEM67(NM_153704.6):c.1645C>T (p.(Arg549Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037085" "0" "50" "8" "94809681" "94809681" "subst" "4.07027E-6" "01804" "TMEM67_000088" "g.94809681G>C" "" "" "" "TMEM67(NM_153704.6):c.2083G>C (p.V695L, p.(Val695Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037086" "0" "50" "8" "94827649" "94827649" "subst" "0" "01804" "TMEM67_000257" "g.94827649T>A" "" "" "" "TMEM67(NM_153704.6):c.2881T>A (p.(Ser961Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037087" "0" "50" "8" "94828616" "94828616" "subst" "8.70813E-5" "01804" "TMEM67_000258" "g.94828616G>A" "" "" "" "TMEM67(NM_153704.6):c.2924G>A (p.(Arg975His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053052" "0" "90" "8" "94792831" "94792831" "subst" "4.06514E-6" "01804" "TMEM67_000042" "g.94792831A>G" "" "" "" "TMEM67(NM_153704.6):c.725A>G (p.(Asn242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053053" "0" "50" "8" "94816990" "94816990" "subst" "8.97476E-5" "01804" "TMEM67_000259" "g.94816990A>G" "" "" "" "TMEM67(NM_153704.6):c.2323A>G (p.(Ile775Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053054" "0" "50" "8" "94821359" "94821359" "subst" "0" "01804" "TMEM67_000260" "g.94821359G>A" "" "" "" "TMEM67(NM_153704.6):c.2631G>A (p.(Met877Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TMEM67 ## Count = 581 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000001264" "00000140" "50" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "17" "0000016636" "00000140" "70" "161" "0" "161" "0" "c.161A>G" "r.(161a>g)" "p.(Tyr54Cys)" "1b" "0000016637" "00000140" "90" "224" "-2" "224" "-2" "c.224-2del" "r.224_312del" "p.Gly75Glufs*15" "1i" "0000016638" "00000140" "90" "383" "0" "384" "0" "c.383_384del" "r.(383_384del)" "p.(His128Leufs*13)" "3a" "0000016639" "00000140" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195Aspfs*27)" "6" "0000016640" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(622a>u)" "p.(Arg208*)" "7" "0000016641" "00000140" "90" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Val217Leufs*5)" "7" "0000016642" "00000140" "70" "651" "2" "651" "2" "c.651+2T>G" "r.spl" "p.?" "7i" "0000016643" "00000140" "70" "734" "0" "734" "0" "c.734C>T" "r.(734c>u)" "p.(Ser245Phe)" "9" "0000016644" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(755u>c)" "p.(Met252Thr)" "8" "0000016645" "00000140" "70" "870" "-2" "870" "-2" "c.870-2A>G" "r.spl" "p.?" "9i" "0000016647" "00000140" "70" "888" "0" "888" "0" "c.888G>T" "r.(888g>u)" "p.(Trp296Cys)" "10" "0000016648" "00000140" "70" "1046" "0" "1046" "0" "c.1046T>C" "r.(1046t>c)" "p.(Leu349Ser)" "12" "0000016649" "00000140" "70" "1065" "1" "1065" "1" "c.1065+1del" "r.spl" "p.(Gln355HisfsTer10)" "11i" "0000016650" "00000140" "90" "1127" "0" "1127" "0" "c.1127A>C" "r.(1127a>c)" "p.(Gln376Pro)" "12" "0000016651" "00000140" "70" "1319" "0" "1319" "0" "c.1319G>A" "r.(1319g>a)" "p.(Arg440Gln)" "13" "0000016652" "00000140" "70" "1336" "0" "1336" "0" "c.1336G>C" "r.(1336g>c)" "p.(Asp446His)" "14" "0000016653" "00000140" "90" "1351" "0" "1351" "0" "c.1351C>T" "r.(1351c>u)" "p.(Arg451*)" "13" "0000016654" "00000140" "70" "1538" "0" "1538" "0" "c.1538A>G" "r.(1538a>g)" "p.(Tyr513Cys)" "16" "0000016656" "00000140" "70" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl" "p.?" "15i" "0000016657" "00000140" "90" "1675" "-1" "2241" "1" "c.(1674+1_1675-1)_(2241+1_2242-1)del" "r.1675_2241del" "p.Thr559_Gln747del" "16i_21i" "0000016658" "00000140" "70" "1843" "0" "1843" "0" "c.1843T>C" "r.(1843u>c)" "p.(Cys615Arg)" "19" "0000016659" "00000140" "70" "2439" "0" "2439" "0" "c.2439G>A" "r.[spl,2439G>A]" "p.[?,=]" "24" "0000016660" "00000140" "90" "2557" "0" "2557" "0" "c.2557A>T" "r.(2557a>t)" "p.(Lys853*)" "26" "0000016661" "00000140" "70" "2897" "0" "2897" "0" "c.2897T>C" "r.(2897u>c)" "p.(Leu966Pro)" "27" "0000016662" "00000140" "90" "2561" "0" "2561" "0" "c.2561dup" "r.(?)" "p.(Asn854Lysfs*5)" "26" "0000016663" "00000140" "70" "2002" "0" "2002" "0" "c.2002T>C" "r.(2002u>c)" "p.(Trp668Arg)" "21" "0000016664" "00000140" "90" "2542" "0" "2542" "0" "c.2542G>T" "r.(2542g>u)" "p.(Glu848*)" "25" "0000016665" "00000140" "70" "2357" "0" "2357" "0" "c.2357G>A" "r.(2357g>a)" "p.(Gly786Glu)" "24" "0000016666" "00000140" "70" "2528" "0" "2528" "0" "c.2528A>G" "r.(2528a>g)" "p.(Tyr843Cys)" "25" "0000016667" "00000140" "90" "2689" "0" "2690" "0" "c.2689_2690insTA" "r.(2689_2690insua)" "p.(Lys897Ilefs*64)" "27" "0000016668" "00000140" "70" "1413" "-1" "1413" "-1" "c.1413-1G>C" "r.spl" "p.?" "14i" "0000016669" "00000140" "90" "2301" "0" "2301" "0" "c.2301del" "r.(2301del)" "p.(Asp768Ilefs*5)" "23" "0000016670" "00000140" "90" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Tyr513*)" "16" "0000016671" "00000140" "90" "387" "0" "387" "0" "c.387T>A" "r.(387u>a)" "p.(Cys129*)" "3a" "0000016672" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "7" "0000016673" "00000140" "90" "675" "0" "675" "0" "c.675G>A" "r.(675g>a)" "p.(Trp225*)" "8" "0000016674" "00000140" "70" "2322" "2" "2322" "2" "c.2322+2dup" "r.spl" "p.?" "23i" "0000016675" "00000140" "70" "1322" "0" "1322" "0" "c.1322G>T" "r.(1322g>u)" "p.(Arg441Leu)" "14" "0000052249" "00000140" "70" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "8" "0000052291" "00000140" "70" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000052292" "00000140" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "11" "0000052293" "00000140" "70" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000052294" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000052295" "00000140" "70" "797" "0" "797" "0" "c.797A>C" "r.(?)" "p.(Asp266Ala)" "8" "0000052296" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000052297" "00000140" "70" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Trp14*)" "1" "0000052298" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000086051" "00000140" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Asp139Hisfs*2)" "4" "0000086052" "00000140" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "5" "0000086053" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000086054" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000086055" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "13" "0000086056" "00000140" "90" "1960" "1" "1960" "1" "c.1960+1G>A" "r.spl?" "p.?" "19i" "0000086057" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "10" "0000150686" "00000140" "90" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "" "0000246669" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000246699" "00000140" "10" "429" "0" "429" "0" "c.429A>T" "r.(?)" "p.(Thr143=)" "" "0000246700" "00000140" "10" "2010" "0" "2010" "0" "c.2010A>G" "r.(?)" "p.(Thr670=)" "" "0000246701" "00000140" "10" "2952" "0" "2952" "0" "c.2952A>G" "r.(?)" "p.(Ala984=)" "" "0000246771" "00000140" "50" "406" "1421" "406" "1421" "c.406+1421A>G" "r.(=)" "p.(=)" "" "0000247987" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000250830" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000251432" "00000140" "10" "2439" "81" "2439" "81" "c.2439+81del" "r.(=)" "p.(=)" "" "0000253248" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000254220" "00000140" "30" "2892" "0" "2892" "0" "c.2892A>C" "r.(?)" "p.(Thr964=)" "" "0000255385" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000255451" "00000140" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195AspfsTer27)" "" "0000256493" "00000140" "50" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Ser320Cys)" "" "0000256555" "00000140" "50" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Thr360Ala)" "" "0000309248" "00000140" "10" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(Ser40=)" "" "0000309249" "00000140" "50" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "" "0000309250" "00000140" "30" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Val695Leu)" "" "0000311897" "00000140" "30" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(Val22=)" "" "0000311898" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000314582" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000314583" "00000140" "10" "406" "1361" "406" "1361" "c.406+1361C>T" "r.(=)" "p.(=)" "" "0000314584" "00000140" "10" "406" "1379" "406" "1379" "c.406+1379G>A" "r.(=)" "p.(=)" "" "0000314585" "00000140" "30" "1774" "-6" "1774" "-6" "c.1774-6T>A" "r.(=)" "p.(=)" "" "0000314586" "00000140" "10" "1861" "-177" "1861" "-177" "c.1861-177C>T" "r.(=)" "p.(=)" "" "0000314587" "00000140" "10" "224" "-4" "224" "-3" "c.224-4_224-3del" "r.spl?" "p.?" "" "0000314588" "00000140" "10" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000314589" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000314590" "00000140" "10" "407" "-894" "407" "-893" "c.407-894_407-893del" "r.(=)" "p.(=)" "" "0000314591" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000316742" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000316743" "00000140" "30" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(Ser40=)" "" "0000316744" "00000140" "50" "1730" "0" "1730" "0" "c.1730T>C" "r.(?)" "p.(Ile577Thr)" "" "0000316745" "00000140" "30" "186" "0" "186" "0" "c.186T>C" "r.(?)" "p.(Cys62=)" "" "0000316746" "00000140" "50" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Cys65Phe)" "" "0000316747" "00000140" "30" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000316748" "00000140" "30" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Val9Met)" "" "0000316749" "00000140" "30" "2928" "0" "2928" "0" "c.2928T>C" "r.(?)" "p.(Asn976=)" "" "0000316750" "00000140" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Ala123=)" "" "0000316751" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000316752" "00000140" "50" "857" "0" "857" "0" "c.857C>G" "r.(?)" "p.(Ser286Cys)" "" "0000332200" "00000140" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000332202" "00000140" "50" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Val239=)" "" "0000332203" "00000140" "30" "978" "5" "978" "5" "c.978+5A>C" "r.spl?" "p.?" "" "0000332205" "00000140" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000332206" "00000140" "50" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Tyr567Cys)" "" "0000332207" "00000140" "30" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Pro721Ser)" "" "0000332208" "00000140" "30" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000338940" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000341115" "00000140" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Ala10Val)" "" "0000345636" "00000140" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Gly106Ser)" "" "0000345871" "00000140" "50" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0000346777" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000347789" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000348339" "00000140" "10" "406" "1332" "406" "1332" "c.406+1332C>T" "r.(=)" "p.(=)" "" "0000348935" "00000140" "50" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Ser320Cys)" "" "0000351466" "00000140" "30" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000351467" "00000140" "90" "2241" "1" "2241" "1" "c.2241+1G>A" "r.spl?" "p.?" "" "0000351468" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000357618" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000357619" "00000140" "90" "1289" "0" "1289" "0" "c.1289A>G" "r.(1289_1412del)" "p.(Asp430Serfs*9)" "13" "0000459819" "00000140" "90" "2306" "0" "2306" "0" "c.2306del" "r.(?)" "p.(Leu769Tyrfs*4)" "" "0000535437" "00000140" "30" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Val9Met)" "" "0000535438" "00000140" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Ile)" "" "0000535441" "00000140" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Ala123=)" "" "0000535444" "00000140" "30" "406" "1301" "406" "1301" "c.406+1301G>A" "r.(=)" "p.(=)" "" "0000535445" "00000140" "30" "406" "1345" "406" "1345" "c.406+1345dup" "r.(=)" "p.(=)" "" "0000535446" "00000140" "30" "406" "1361" "406" "1361" "c.406+1361C>T" "r.(=)" "p.(=)" "" "0000535447" "00000140" "30" "406" "1379" "406" "1379" "c.406+1379G>A" "r.(=)" "p.(=)" "" "0000535448" "00000140" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Ile)" "" "0000535449" "00000140" "30" "561" "0" "561" "0" "c.561A>G" "r.(?)" "p.(Ser187=)" "" "0000535450" "00000140" "30" "576" "10" "576" "10" "c.576+10A>T" "r.(=)" "p.(=)" "" "0000535451" "00000140" "30" "577" "-11" "577" "-11" "c.577-11T>C" "r.(=)" "p.(=)" "" "0000535452" "00000140" "50" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.(Gly195Val)" "" "0000535453" "00000140" "50" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0000535454" "00000140" "30" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0000535455" "00000140" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Val239=)" "" "0000535456" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000535457" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000535458" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000535459" "00000140" "50" "797" "0" "797" "0" "c.797A>C" "r.(?)" "p.(Asp266Ala)" "" "0000535460" "00000140" "10" "869" "9" "869" "9" "c.869+9A>G" "r.(=)" "p.(=)" "" "0000535462" "00000140" "50" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Thr360Ala)" "" "0000535463" "00000140" "30" "1145" "0" "1145" "0" "c.1145T>G" "r.(?)" "p.(Ile382Ser)" "" "0000535464" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535465" "00000140" "50" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535466" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535467" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535468" "00000140" "50" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535469" "00000140" "30" "1379" "0" "1379" "0" "c.1379G>C" "r.(?)" "p.(Arg460Thr)" "" "0000535470" "00000140" "10" "1774" "-81" "1774" "-81" "c.1774-81del" "r.(=)" "p.(=)" "" "0000535471" "00000140" "50" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Val613Ile)" "" "0000535472" "00000140" "50" "1895" "0" "1895" "0" "c.1895T>G" "r.(?)" "p.(Ile632Ser)" "" "0000535473" "00000140" "50" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000535474" "00000140" "50" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000535475" "00000140" "30" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000535478" "00000140" "50" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Val767Ile)" "" "0000535479" "00000140" "30" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Val767Ile)" "" "0000535480" "00000140" "10" "2355" "0" "2355" "0" "c.2355T>C" "r.(?)" "p.(Phe785=)" "" "0000535482" "00000140" "30" "2440" "-6" "2440" "-6" "c.2440-6T>C" "r.(=)" "p.(=)" "" "0000535483" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000535484" "00000140" "30" "2556" "4" "2556" "4" "c.2556+4T>G" "r.spl?" "p.?" "" "0000535485" "00000140" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(His887Arg)" "" "0000535486" "00000140" "10" "2907" "9" "2907" "9" "c.2907+9T>C" "r.(=)" "p.(=)" "" "0000597572" "00000140" "90" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "8" "0000597573" "00000140" "90" "313" "-3" "313" "-3" "c.313-3T>G" "r.313_316del" "p.Lys105Valfs*16" "2i" "0000602991" "00000140" "70" "1338" "0" "1350" "0" "c.1338_1350del" "r.(?)" "p.(Ala447Glufs*5)" "" "0000611724" "00000140" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Thr38=)" "" "0000620292" "00000140" "90" "329" "0" "329" "0" "c.329A>G" "r.328a>g" "p.Asp110Gly" "" "0000620296" "00000140" "90" "2322" "5" "2322" "5" "c.2322+5del" "r.2242_2322del" "p.Val748_Asn774del" "22i" "0000622097" "00000140" "70" "312" "2" "312" "2" "c.312+2T>G" "r.spl?" "p.?" "" "0000652535" "00000140" "10" "406" "1361" "406" "1361" "c.406+1361C>T" "r.(=)" "p.(=)" "" "0000652537" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000652538" "00000140" "50" "1322" "0" "1322" "0" "c.1322G>T" "r.(?)" "p.(Arg441Leu)" "" "0000652539" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000652541" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000670025" "00000140" "10" "2397" "0" "2397" "0" "c.2397T>C" "r.(=)" "p.(=)" "" "0000685768" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685773" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685780" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685785" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685790" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685796" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000690328" "00000140" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "" "0000690329" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000690330" "00000140" "70" "1861" "-1" "1861" "-1" "c.1861-1G>A" "r.spl?" "p.?" "" "0000701847" "00000140" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Arg)" "" "0000703894" "00000140" "70" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Val950Met)" "" "0000722100" "00000140" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Cys100Tyr)" "" "0000722101" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195IlefsTer13)" "" "0000722102" "00000140" "70" "651" "2" "651" "2" "c.651+2T>G" "r.spl?" "p.?" "" "0000722103" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000722104" "00000140" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000722105" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000722106" "00000140" "70" "1646" "0" "1646" "0" "c.1646G>T" "r.(?)" "p.(Arg549Leu)" "" "0000722107" "00000140" "30" "1675" "-10" "1675" "-10" "c.1675-10dup" "r.(=)" "p.(=)" "" "0000722108" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000722109" "00000140" "90" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Ter)" "" "0000722110" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000730081" "00000140" "90" "2306" "0" "2306" "0" "c.2306del" "r.(?)" "p.(Leu769Tyrfs*4)" "" "0000730082" "00000140" "90" "2707" "0" "2707" "0" "c.2707G>C" "r.(?)" "p.(Glu903Gln)" "" "0000730083" "00000140" "90" "739" "0" "739" "0" "c.739C>G" "r.(?)" "p.(Gln247Glu)" "" "0000732619" "00000140" "90" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463*)" "" "0000759754" "00000140" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000759762" "00000140" "90" "722" "0" "722" "0" "c.722C>G" "r.(?)" "p.(Ala241Gly)" "" "0000759765" "00000140" "90" "2311" "0" "2311" "0" "c.2311T>C" "r.(?)" "p.(Ser771Pro)" "" "0000759768" "00000140" "90" "1065" "4" "1065" "4" "c.1065+4del" "r.spl" "p.?" "" "0000759772" "00000140" "90" "312" "5" "312" "5" "c.312+5G>A" "r.224_312del" "p.?" "" "0000759774" "00000140" "90" "475" "0" "475" "0" "c.475T>C" "r.(?)" "p.(Ser159Pro)" "" "0000759776" "00000140" "90" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Tyr513Ter)" "" "0000759782" "00000140" "90" "2322" "5" "2322" "5" "c.2322+5del" "r.spl" "p.?" "" "0000759787" "00000140" "90" "1576" "-2" "1576" "-2" "c.1576-2A>C" "r.1576_1674del" "p.?" "" "0000759789" "00000140" "90" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Ter)" "" "0000759791" "00000140" "90" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "" "0000759795" "00000140" "90" "395" "0" "395" "0" "c.395G>C" "r.(?)" "p.(Gly132Ala)" "" "0000759797" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000759799" "00000140" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Ala148Ser)" "" "0000765699" "00000140" "90" "2132" "0" "2132" "0" "c.2132A>C" "p.(Arg286*)" "p.(Asp711Ala)" "" "0000783552" "00000140" "90" "1674" "3" "1674" "3" "c.1674+3A>G" "r.spl?" "p.?" "" "0000783553" "00000140" "90" "1911" "0" "1911" "0" "c.1911C>A" "r.(?)" "p.(Phe637Leu)" "" "0000783554" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "" "0000783555" "00000140" "90" "1961" "-2" "1961" "-2" "c.1961-2A>C" "r.spl?" "p.?" "" "0000783556" "00000140" "90" "1961" "-2" "1961" "-2" "c.1961-2A>C" "r.spl?" "p.?" "" "0000783557" "00000140" "90" "389" "0" "389" "0" "c.389C>G" "r.(?)" "p.(Pro130Arg)" "" "0000783558" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783559" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783560" "00000140" "90" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Met257Val)" "" "0000783561" "00000140" "90" "978" "3" "978" "3" "c.978+3A>G" "r.spl?" "p.?" "" "0000783562" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000783563" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000783564" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783565" "00000140" "90" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Cys100*)" "" "0000783566" "00000140" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Pro485Ser)" "" "0000783567" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000783568" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000783569" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000783570" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000783571" "00000140" "90" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "" "0000783572" "00000140" "90" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "" "0000783573" "00000140" "90" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "" "0000783574" "00000140" "90" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "" "0000783575" "00000140" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000783576" "00000140" "90" "730" "0" "730" "0" "c.730A>G" "r.(?)" "p.(Thr244Ala)" "" "0000783577" "00000140" "90" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764*)" "" "0000783578" "00000140" "90" "2368" "0" "2368" "0" "c.2368C>A" "r.(?)" "p.(His790Asn)" "" "0000783579" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000783588" "00000140" "70" "2322" "2" "2322" "2" "c.2322+2dup" "r.spl?" "p.?" "" "0000783589" "00000140" "70" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Glu361*)" "" "0000783590" "00000140" "70" "2322" "2" "2322" "2" "c.2322+2dup" "r.spl?" "p.?" "" "0000783591" "00000140" "70" "2086" "0" "2086" "0" "c.2086C>T" "r.(?)" "p.(Leu696Phe)" "" "0000783593" "00000140" "50" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000783727" "00000140" "90" "1126" "0" "1126" "0" "c.1126C>G" "r.(?)" "p.(Gln376Glu)" "" "0000783728" "00000140" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000783729" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783730" "00000140" "90" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "" "0000783731" "00000140" "90" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "" "0000783732" "00000140" "90" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Trp225*)" "" "0000783733" "00000140" "90" "2556" "1" "2556" "1" "c.2556+1G>T" "r.spl?" "p.?" "" "0000783734" "00000140" "90" "2556" "1" "2556" "1" "c.2556+1G>T" "r.spl?" "p.?" "" "0000783735" "00000140" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000783736" "00000140" "90" "2825" "0" "2825" "0" "c.2825T>G" "r.(?)" "p.(Phe942Cys)" "" "0000783737" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "" "0000783738" "00000140" "90" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "" "0000783739" "00000140" "90" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451*)" "" "0000783740" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783741" "00000140" "90" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Cys)" "" "0000783742" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000783743" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000783744" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783745" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000783746" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000783747" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000783748" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000783749" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "" "0000783750" "00000140" "90" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "" "0000783751" "00000140" "90" "2801" "0" "2801" "0" "c.2801G>A" "r.(?)" "p.(Gly934Glu)" "" "0000783752" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000783760" "00000140" "70" "297" "0" "297" "0" "c.297G>T" "r.(?)" "p.(Lys99Asn)" "" "0000783761" "00000140" "70" "2661" "5" "2661" "5" "c.2661+5G>A" "r.spl?" "p.?" "" "0000783762" "00000140" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "" "0000783763" "00000140" "70" "2322" "5" "2322" "5" "c.2322+5del" "r.spl?" "p.?" "" "0000783764" "00000140" "50" "2371" "0" "2371" "0" "c.2371G>A" "r.(?)" "p.(Gly791Ser)" "" "0000785418" "00000140" "50" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000785422" "00000140" "50" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000785423" "00000140" "50" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000786409" "00000140" "90" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Val9Met)" "" "0000786476" "00000140" "90" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Thr360Ala)" "" "0000791710" "00000140" "70" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Ala708Thr)" "" "0000791711" "00000140" "70" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000791712" "00000140" "70" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "" "0000791713" "00000140" "70" "2879" "0" "2879" "0" "c.2879C>T" "r.(?)" "p.(Ala960Val)" "" "0000791714" "00000140" "70" "2804" "0" "2804" "0" "c.2804del" "r.(?)" "p.(Gly934fs*959)" "" "0000791715" "00000140" "70" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000791716" "00000140" "70" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "" "0000791717" "00000140" "70" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000791718" "00000140" "70" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Glu451*)" "" "0000791719" "00000140" "70" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000791720" "00000140" "70" "2322" "2" "2322" "3" "c.2322+2_2322+3insT" "r.spl" "p.(?)" "" "0000791721" "00000140" "70" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000791722" "00000140" "70" "2804" "0" "2804" "0" "c.2804del" "r.(?)" "p.(Gly934fs*959)" "" "0000791723" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000791724" "00000140" "70" "1126" "0" "1126" "0" "c.1126C>G" "r.(?)" "p.(Gln376Glu)" "" "0000791725" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000791726" "00000140" "70" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "" "0000791727" "00000140" "70" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Met257Val)" "" "0000791728" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000791729" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000791730" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000791731" "00000140" "70" "2661" "5" "2661" "5" "c.2661+5G>A" "r.spl" "p.(?)" "" "0000791805" "00000140" "70" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000791806" "00000140" "70" "2140" "0" "2142" "0" "c.2140_2142del" "r.(?)" "p.(Ser715del)" "" "0000791807" "00000140" "70" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000791808" "00000140" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000791809" "00000140" "70" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Thr317Arg)" "" "0000791810" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000791811" "00000140" "70" "2661" "5" "2661" "5" "c.2661+5G>A" "r.spl" "p.(?)" "" "0000791812" "00000140" "70" "224" "-2" "224" "-2" "c.224-2A>T" "r.(?)" "p.(?)" "" "0000791813" "00000140" "70" "297" "0" "297" "0" "c.297G>T" "r.(?)" "p.(Lys99Asn)" "" "0000791814" "00000140" "70" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Thr513Cys)" "" "0000791815" "00000140" "70" "1674" "3" "1674" "3" "c.1674+3A>G" "r.(?)" "p.(?)" "" "0000791816" "00000140" "70" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451*)" "" "0000791817" "00000140" "70" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Thr317Arg)" "" "0000791818" "00000140" "70" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "" "0000791819" "00000140" "70" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "" "0000791820" "00000140" "70" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "" "0000791821" "00000140" "70" "2322" "2" "2322" "2" "c.2322+2dup" "r.(?)" "p.(?)" "" "0000791963" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000791964" "00000140" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "8" "0000791965" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000791966" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000791967" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000791968" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000791969" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000791970" "00000140" "90" "1911" "0" "1911" "0" "c.1911C>A" "r.(?)" "p.(Phe637Leu)" "19" "0000791971" "00000140" "90" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463*)" "13" "0000791972" "00000140" "90" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Thr964Ile)" "27" "0000791973" "00000140" "90" "986" "0" "986" "0" "c.986A>C" "r.(?)" "p.(Lys329Thr)" "10" "0000791974" "00000140" "90" "2556" "1" "2556" "1" "c.2556+1G>A" "r.spl?" "p.?" "24i" "0000791976" "00000140" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(=)" "p.(=)" "10" "0000791978" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000791979" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000791980" "00000140" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(Tyr723Cys)" "21" "0000791981" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000791982" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000791983" "00000140" "90" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451*)" "13" "0000791984" "00000140" "90" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Val673Ala)" "20" "0000792005" "00000140" "90" "1334" "0" "1334" "0" "c.1334T>C" "r.(?)" "p.(Val445Ala)" "13" "0000792006" "00000140" "90" "1911" "0" "1911" "0" "c.1911C>T" "r.(=)" "p.(=)" "19" "0000792007" "00000140" "90" "2009" "0" "2009" "0" "c.2009C>T" "r.(?)" "p.(Thr670Ile)" "20" "0000792008" "00000140" "90" "2374" "0" "2374" "0" "c.2374A>G" "r.(?)" "p.(Arg792Gly)" "23" "0000792009" "00000140" "90" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Gly821Ser)" "24" "0000792010" "00000140" "90" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Gly821Ser)" "24" "0000792267" "00000140" "90" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Tyr567Cys)" "17" "0000803760" "00000140" "50" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Phe41Leu)" "" "0000803761" "00000140" "90" "651" "2" "651" "2" "c.651+2T>G" "r.spl?" "p.?" "" "0000803762" "00000140" "30" "652" "-16" "652" "-16" "c.652-16A>G" "r.(=)" "p.(=)" "" "0000803763" "00000140" "30" "869" "9" "869" "9" "c.869+9A>G" "r.(=)" "p.(=)" "" "0000803764" "00000140" "70" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000803765" "00000140" "90" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "" "0000803766" "00000140" "30" "1379" "0" "1379" "0" "c.1379G>C" "r.(?)" "p.(Arg460Thr)" "" "0000803767" "00000140" "50" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000811074" "00000140" "70" "2241" "0" "2241" "0" "c.2241G>A" "r.(=)" "p.(=)" "21" "0000811076" "00000140" "10" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "7" "0000811077" "00000140" "70" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Ser320Cys)" "9" "0000813983" "00000140" "50" "1457" "0" "1457" "0" "c.1457A>G" "r.(?)" "p.?" "14" "0000817518" "00000140" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly195ilefs*13)" "" "0000817522" "00000140" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gln467*)" "" "0000817541" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "8" "0000817542" "00000140" "30" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "18" "0000817543" "00000140" "30" "2397" "0" "2397" "0" "c.2397T>C" "r.(=)" "p.(=)" "23" "0000817544" "00000140" "30" "2055" "0" "2055" "0" "c.2055T>C" "r.?" "p.(=)" "20" "0000817545" "00000140" "30" "2268" "0" "2268" "0" "c.2268G>A" "r.(=)" "p.(=)" "22" "0000817546" "00000140" "30" "3574" "-9" "3574" "-9" "c.3574-9del" "r.spl?" "p.?" "28" "0000817547" "00000140" "30" "5237" "0" "5237" "0" "c.5237G>A" "r.?" "p.(Arg1746Gln)" "28" "0000817548" "00000140" "30" "6401" "0" "6401" "0" "c.6401T>C" "r.(=)" "p.(=)" "28" "0000817549" "00000140" "50" "7075" "0" "7075" "0" "c.7075A>C" "r.?" "p.(Ile2359Leu)" "28" "0000817550" "00000140" "70" "685" "0" "687" "0" "c.685_687delGAA" "r.?" "p.(Glu229del)" "7" "0000817551" "00000140" "30" "777" "0" "777" "0" "c.777C>T" "r.?" "p.(His259His)" "8" "0000817552" "00000140" "30" "3183" "-8" "3183" "-8" "c.3183-8T>C" "r.spl?" "p.?" "28" "0000817553" "00000140" "30" "3201" "0" "3201" "0" "c.*213G>A" "r.(=)" "p.(=)" "28" "0000817554" "00000140" "90" "4333" "0" "4333" "0" "c.4333C>T" "r.?" "p.(Arg1445*)" "28" "0000817604" "00000140" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Asp139Hisfs*2)" "4" "0000817605" "00000140" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Asp139Hisfs*2)" "4" "0000817606" "00000140" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "5" "0000817607" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000817608" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000817609" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000817610" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "13" "0000817611" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "13" "0000817612" "00000140" "90" "1960" "1" "1960" "1" "c.1960+1G>A" "r.spl?" "p.?" "19i" "0000817613" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "10" "0000817846" "00000140" "70" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "" "0000817856" "00000140" "70" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "" "0000818182" "00000140" "70" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "3" "0000818183" "00000140" "70" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000818249" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000818250" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000818253" "00000140" "90" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "24" "0000818254" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000818257" "00000140" "90" "224" "-2" "224" "-2" "c.224-2A>T" "r.spl?" "p.?" "1i" "0000818258" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000818259" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000818260" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "18" "0000818261" "00000140" "90" "2802" "0" "2802" "0" "c.2802delA" "r.(?)" "p.(Asn935Metfs*25)" "27" "0000818262" "00000140" "90" "2802" "0" "2802" "0" "c.2802delA" "r.(?)" "p.(Asn935Metfs*25)" "27" "0000818263" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000818264" "00000140" "90" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451*)" "13" "0000818265" "00000140" "90" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Met257Val)" "8" "0000818285" "00000140" "90" "2661" "5" "2661" "5" "c.2661+5G>A" "r.spl?" "p.?" "25i" "0000818286" "00000140" "90" "2322" "2" "2322" "2" "c.2322+2dup" "r.spl?" "p.?" "22i" "0000818299" "00000140" "90" "2661" "5" "2661" "5" "c.2661+5G>A" "r.spl?" "p.?" "25i" "0000818300" "00000140" "90" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Glu361*)" "11" "0000818356" "00000140" "90" "1538" "0" "1538" "0" "c.1538 A>G" "r.(?)" "p.(Tyr513Cys)" "15" "0000818357" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000818358" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000818359" "00000140" "90" "2140" "0" "2142" "0" "c.2140_2142del" "r.(?)" "p.(Ser715del)" "21" "0000818360" "00000140" "90" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "8" "0000818361" "00000140" "90" "2879" "0" "2879" "0" "c.2879C>T" "r.(?)" "p.(Ala960Val)" "27" "0000818364" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000818365" "00000140" "90" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Thr317Arg)" "9" "0000818366" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000818367" "00000140" "90" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Thr317Arg)" "9" "0000818368" "00000140" "90" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "2" "0000818369" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000818370" "00000140" "90" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "2" "0000818371" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000818372" "00000140" "90" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Pro82Arg)" "2" "0000818373" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000823308" "00000140" "50" "652" "0" "652" "0" "c.652G>T" "r.(?)" "p.(Gly218Cys)" "" "0000823309" "00000140" "70" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Gln841*)" "" "0000828523" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "" "0000828533" "00000140" "50" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000834107" "00000140" "50" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Cys378Tyr)" "12" "0000834164" "00000140" "70" "2378" "0" "2378" "0" "c.2378delinsAGT" "r.(?)" "p.(Ser793Ter)" "23" "0000845914" "00000140" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Arg)" "" "0000845915" "00000140" "90" "1353" "0" "1353" "0" "c.1353delA" "r.(?)" "p.(Glu452Lysfs*4)" "" "0000845920" "00000140" "90" "1353" "0" "1353" "0" "c.1353delA" "r.(?)" "p.(Glu452Lysfs*4)" "" "0000845921" "00000140" "90" "2096" "0" "2096" "0" "c.2096T>C" "r.(?)" "p.(Leu699Ser)" "" "0000845922" "00000140" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Arg)" "" "0000845923" "00000140" "90" "579" "0" "580" "0" "c.579_580delAG" "r.(?)" "p.(Gly195Ilefs*13)" "" "0000845936" "00000140" "90" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "" "0000845937" "00000140" "90" "2758" "0" "2758" "0" "c.2758delT" "r.(?)" "p.(Tyr920Thrfs*40)" "" "0000852016" "00000140" "30" "312" "18" "312" "18" "c.312+18T>A" "r.(=)" "p.(=)" "" "0000852017" "00000140" "30" "1131" "19" "1131" "19" "c.1131+19A>C" "r.(=)" "p.(=)" "" "0000852018" "00000140" "50" "1822" "0" "1822" "0" "c.1822C>G" "r.(?)" "p.(Arg608Gly)" "" "0000861300" "00000140" "30" "406" "1301" "406" "1301" "c.406+1301G>T" "r.(=)" "p.(=)" "" "0000882639" "00000140" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000882640" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "" "0000888476" "00000140" "90" "385" "0" "385" "0" "c.385del" "r.(?)" "p.(Cys129Valfs*7)" "" "0000888477" "00000140" "30" "406" "1375" "406" "1375" "c.406+1375G>T" "r.(=)" "p.(=)" "" "0000888478" "00000140" "70" "651" "2" "651" "2" "c.651+2T>G" "r.spl?" "p.?" "" "0000888479" "00000140" "30" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0000888480" "00000140" "50" "1774" "-1" "1774" "-1" "c.1774-1G>A" "r.spl?" "p.?" "" "0000888481" "00000140" "10" "2010" "0" "2010" "0" "c.2010A>G" "r.(?)" "p.(Thr670=)" "" "0000924911" "00000140" "30" "48" "0" "48" "0" "c.48C>G" "r.(?)" "p.(Leu16=)" "" "0000924912" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000929486" "00000140" "50" "1413" "-4" "1413" "-4" "c.1413-4A>G" "r.spl?" "p.?" "" "0000933939" "00000140" "90" "1353" "0" "1353" "0" "c.1353del" "r.(?)" "p.(Glu452LysfsTer4)" "" "0000933940" "00000140" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000949124" "00000140" "50" "515" "0" "515" "0" "c.515G>C" "r.(?)" "p.(Arg172Pro)" "" "0000949125" "00000140" "50" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000951831" "00000140" "90" "888" "0" "888" "0" "c.888G>T" "r.(?)" "p.(Trp296Cys)" "" "0000951832" "00000140" "90" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Ser245Phe)" "" "0000951834" "00000140" "90" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Tyr54Cys)" "" "0000951835" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000951836" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000951837" "00000140" "90" "1843" "0" "1843" "0" "c.1843T>C" "r.(?)" "p.(Cys615Arg)" "" "0000951838" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000951839" "00000140" "90" "2897" "0" "2897" "0" "c.2897T>C" "r.(?)" "p.(Leu966Pro)" "" "0000951875" "00000140" "90" "383" "0" "384" "0" "c.383_384del" "r.(?)" "p.(His128Leufs*13)" "" "0000951877" "00000140" "90" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Val217Leufs*5)" "" "0000951878" "00000140" "90" "870" "-2" "870" "-2" "c.870-2A>G" "r.spl" "p.?" "" "0000951879" "00000140" "90" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Gln376Pro)" "" "0000951880" "00000140" "90" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl" "p.?" "15i" "0000951881" "00000140" "90" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl" "p.?" "15i" "0000951882" "00000140" "90" "1336" "0" "1336" "0" "c.1336G>C" "r.(?)" "p.(Asp446His)" "" "0000951883" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "" "0000951884" "00000140" "90" "1065" "1" "1065" "1" "c.1065+1del" "r.spl" "p.?" "" "0000951885" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000951886" "00000140" "90" "651" "2" "651" "2" "c.651+2T>G" "r.spl?" "p.?" "" "0000951887" "00000140" "90" "1675" "-1" "2241" "1" "c.(1674+1_1675-1)_(2241+1_2242-1)del" "r.1675_2241del" "p.Thr559_Gln747del" "16i_21i" "0000951888" "00000140" "90" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl" "p.?" "" "0000951889" "00000140" "90" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl" "p.?" "" "0000951890" "00000140" "90" "870" "-2" "870" "-2" "c.870-2A>G" "r.spl" "p.?" "" "0000951891" "00000140" "90" "2439" "0" "2439" "0" "c.2439G>A" "r.spl?" "p.?" "" "0000951892" "00000140" "90" "2557" "0" "2557" "0" "c.2557A>T" "r.(?)" "p.(Lys853Ter)" "" "0000951893" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000951894" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000951895" "00000140" "10" "184" "0" "184" "0" "c.184T>C" "r.(?)" "p.(Cys62Arg)" "" "0000951896" "00000140" "10" "506" "18" "506" "18" "c.506+18G>T" "r.(?)" "p.(=)" "" "0000951897" "00000140" "10" "507" "-19" "507" "-19" "c.507-19T>C" "r.(?)" "p.(=)" "" "0000951898" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000951899" "00000140" "10" "870" "-29" "870" "-29" "c.870-29A>G" "r.(?)" "p.(=)" "" "0000951900" "00000140" "10" "979" "-159" "979" "-159" "c.979-159delT" "r.(?)" "p.(=)" "" "0000951901" "00000140" "10" "979" "-107" "979" "-107" "c.979-107A>G" "r.(?)" "p.(=)" "" "0000951902" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.(?)" "p.(=)" "" "0000951903" "00000140" "10" "1066" "-54" "1066" "-54" "c.1066-54G>A" "r.(?)" "p.(=)" "" "0000951904" "00000140" "10" "1575" "53" "1575" "53" "c.1575+53G>A" "r.(?)" "p.(=)" "" "0000951905" "00000140" "10" "1575" "68" "1575" "68" "c.1575+68A>G" "r.(?)" "p.(=)" "" "0000951906" "00000140" "10" "1675" "-109" "1675" "-108" "c.1675-109_1675-108insT" "r.(?)" "p.(=)" "" "0000951907" "00000140" "10" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Asn573Ser)" "" "0000951908" "00000140" "10" "1774" "-89" "1774" "-89" "c.1774-89delA" "r.(?)" "p.(=)" "" "0000951909" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000951910" "00000140" "10" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000951911" "00000140" "10" "2892" "0" "2892" "0" "c.2892A>C" "r.(?)" "p.(Thr964=)" "" "0000951912" "00000140" "10" "2952" "0" "2952" "0" "c.2952A>G" "r.(?)" "p.(Ala984=)" "" "0000951949" "00000140" "90" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451*)" "" "0000951950" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000951951" "00000140" "90" "2897" "0" "2897" "0" "c.2897T>C" "r.(?)" "p.(Leu966Pro)" "" "0000951952" "00000140" "90" "224" "-2" "224" "-2" "c.224-2del" "r.224_312del" "p.Gly75GlufsTer15" "" "0000951953" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000951957" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "" "0000951958" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000951959" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000951960" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000951961" "00000140" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195Aspfs*27)" "" "0000952003" "00000140" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Glu124Lys)" "3" "0000952004" "00000140" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Glu124Lys)" "3" "0000952005" "00000140" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Gly569Asp)" "17" "0000952006" "00000140" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Gln429Ter)" "12" "0000952007" "00000140" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "11" "0000952008" "00000140" "90" "1077" "0" "1078" "0" "c.1077_1078del" "r.(?)" "p.(Thr360ArgfsTer19)" "11" "0000952009" "00000140" "70" "270" "0" "270" "0" "c.270T>G" "r.(?)" "p.(Asn90Lys)" "2" "0000952010" "00000140" "90" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Cys100Ter)" "2" "0000952011" "00000140" "50" "903" "0" "903" "0" "c.903C>G" "r.(?)" "p.(Asp301Glu)" "9" "0000952012" "00000140" "90" "2322" "2" "2322" "2" "c.2322+2dup" "r.spl" "p.?" "22i" "0000952013" "00000140" "70" "1322" "0" "1322" "0" "c.1322G>T" "r.(?)" "p.(Arg441Leu)" "13" "0000952014" "00000140" "90" "2542" "0" "2542" "0" "c.2542G>T" "r.(?)" "p.(Glu848Ter)" "24" "0000952015" "00000140" "90" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Trp225Ter)" "7" "0000952016" "00000140" "90" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Trp225Ter)" "7" "0000952017" "00000140" "70" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "10" "0000952018" "00000140" "90" "1413" "-1" "1413" "-1" "c.1413-1G>C" "r.spl" "p.?" "13i" "0000952019" "00000140" "90" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Tyr513Ter)" "15" "0000952020" "00000140" "90" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Tyr513Ter)" "15" "0000952021" "00000140" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195AspfsTer27)" "6" "0000952022" "00000140" "70" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "10" "0000952023" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195IlefsTer13)" "6" "0000952024" "00000140" "70" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "13" "0000952025" "00000140" "90" "387" "0" "387" "0" "c.387T>A" "r.(?)" "p.(Cys129Ter)" "3" "0000952026" "00000140" "70" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "11" "0000952027" "00000140" "70" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "11" "0000952028" "00000140" "90" "1860" "1" "1860" "1" "c.1860+1G>A" "r.spl" "p.?" "18i" "0000952029" "00000140" "50" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Ala616Val)" "18" "0000952030" "00000140" "70" "2216" "0" "2216" "0" "c.2216T>G" "r.(?)" "p.(Leu739Arg)" "21" "0000952031" "00000140" "70" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "17" "0000952032" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000952033" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000952034" "00000140" "70" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "15" "0000952035" "00000140" "90" "2561" "0" "2561" "0" "c.2561dup" "r.(?)" "p.(Asn854LysfsTer5)" "25" "0000952036" "00000140" "90" "2002" "0" "2002" "0" "c.2002T>C" "r.(?)" "p.(Trp668Arg)" "20" "0000952037" "00000140" "70" "2357" "0" "2357" "0" "c.2357G>A" "r.(?)" "p.(Gly786Glu)" "23" "0000952038" "00000140" "70" "2528" "0" "2528" "0" "c.2528A>G" "r.(?)" "p.(Tyr843Cys)" "24" "0000952039" "00000140" "70" "2528" "0" "2528" "0" "c.2528A>G" "r.(?)" "p.(Tyr843Cys)" "24" "0000952040" "00000140" "90" "2689" "0" "2690" "0" "c.2689_2690insTA" "r.(?)" "p.(Lys897IlefsTer64)" "26" "0000952041" "00000140" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer5)" "22" "0000952042" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "8" "0000965071" "00000140" "30" "979" "-16" "979" "-16" "c.979-16C>T" "r.(=)" "p.(=)" "" "0000965072" "00000140" "50" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Asp396Tyr)" "" "0000965073" "00000140" "50" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0000978294" "00000140" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Gly6Glu)" "" "0000978295" "00000140" "30" "224" "-3" "224" "-3" "c.224-3del" "r.spl?" "p.?" "" "0000978296" "00000140" "70" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195IlefsTer13)" "" "0000978297" "00000140" "50" "2009" "0" "2009" "0" "c.2009C>T" "r.(?)" "p.(Thr670Ile)" "" "0000978298" "00000140" "90" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(=)" "" "0000987940" "00000140" "70" "2464" "0" "2464" "0" "c.2464T>G" "r.(?)" "p.(Leu822Val)" "" "0000997353" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0001014464" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0001014465" "00000140" "70" "628" "0" "628" "0" "c.628T>C" "r.(?)" "p.(Ser210Pro)" "" "0001025551" "00000140" "30" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Pro721Ser)" "" "0001027555" "00000140" "70" "154" "0" "156" "0" "c.154_156del" "r.(?)" "p.(Asn52del)" "" "0001027556" "00000140" "70" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0001027573" "00000140" "70" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Gln558=)" "" "0001027574" "00000140" "90" "1718" "0" "1718" "0" "c.1718del" "r.(?)" "p.(Asn573MetfsTer47)" "" "0001037077" "00000140" "50" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "" "0001037078" "00000140" "50" "125" "0" "130" "0" "c.125_130dup" "r.(?)" "p.(Pro42_Phe43dup)" "" "0001037079" "00000140" "50" "312" "10" "312" "10" "c.312+10A>G" "r.(=)" "p.(=)" "" "0001037081" "00000140" "50" "406" "1421" "406" "1421" "c.406+1421A>G" "r.(=)" "p.(=)" "" "0001037082" "00000140" "50" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0001037083" "00000140" "50" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Ser320Cys)" "" "0001037084" "00000140" "50" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Cys)" "" "0001037085" "00000140" "50" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Val695Leu)" "" "0001037086" "00000140" "50" "2881" "0" "2881" "0" "c.2881T>A" "r.(?)" "p.(Ser961Thr)" "" "0001037087" "00000140" "50" "2924" "0" "2924" "0" "c.2924G>A" "r.(?)" "p.(Arg975His)" "" "0001053052" "00000140" "90" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "" "0001053053" "00000140" "50" "2323" "0" "2323" "0" "c.2323A>G" "r.(?)" "p.(Ile775Val)" "" "0001053054" "00000140" "50" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Met877Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 378 "{{screeningid}}" "{{variantid}}" "0000000031" "0000001264" "0000028945" "0000052249" "0000028983" "0000052291" "0000028983" "0000052292" "0000028984" "0000052293" "0000028984" "0000052294" "0000028985" "0000052295" "0000028985" "0000052296" "0000028986" "0000052297" "0000028986" "0000052298" "0000056014" "0000086051" "0000056015" "0000086052" "0000056015" "0000086053" "0000056016" "0000086054" "0000056017" "0000086055" "0000056018" "0000086056" "0000056018" "0000086057" "0000092384" "0000150686" "0000155877" "0000357618" "0000155877" "0000357619" "0000226789" "0000459819" "0000266755" "0000597572" "0000266755" "0000597573" "0000270251" "0000602991" "0000270928" "0000620292" "0000270928" "0000620296" "0000295846" "0000652535" "0000295848" "0000652537" "0000295849" "0000652538" "0000295850" "0000652539" "0000295852" "0000652541" "0000306337" "0000670025" "0000310784" "0000685768" 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