### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PITPNM3) # 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}}" "PITPNM3" "PITPNM family member 3" "17" "p13" "unknown" "NG_016020.1" "UD_132084473117" "" "https://www.LOVD.nl/PITPNM3" "" "1" "21043" "83394" "608921" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PITPNM3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-11-03 17:11:44" "00000" "2025-02-07 18:57:27" ## 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}}" "00016220" "PITPNM3" "transcript variant 1" "002" "NM_031220.3" "" "NP_112497.2" "" "" "" "-151" "7000" "2925" "6459877" "6354583" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02332" "CORD5" "dystrophy, cone-rod, type 5 (CORD5)" "AD" "600977" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-03 17:11:25" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04215" "STGD" "Stargardt disease (STGD)" "" "" "" "" "" "00006" "2015-02-27 20:01:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PITPNM3" "00058" "PITPNM3" "02332" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00060208" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "Pat9bl" "00060209" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "Pat10bl" "00100098" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD176;61176" "00291822" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324157" "" "" "" "22" "" "03818" "{PMID:Balciuniene 1995:8586428}, {PMID:Reinis 2012:22405330}" "5-generation family, 22 affected" "M" "" "Sweden" ">12y" "0" "" "" "" "Fam151Pat18" "00324158" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">25y" "0" "" "" "" "Fam151Pat17" "00324159" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">35y" "0" "" "" "" "Fam151Pat16" "00324160" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">26y" "0" "" "" "" "Fam151Pat15" "00324161" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">32y" "0" "" "" "" "Fam151Pat14" "00324162" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">32y" "0" "" "" "" "Fam151Pat13" "00324163" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">46y" "0" "" "" "" "Fam151Pat12" "00324164" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">32y" "0" "" "" "" "Fam151Pat11" "00324165" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">27y" "0" "" "" "" "Fam151Pat10" "00324166" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">44y" "0" "" "" "" "Fam151Pat9" "00324300" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">53y" "0" "" "" "" "Fam151Pat8" "00324301" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">72y" "0" "" "" "" "Fam151Pat7" "00324302" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">51y" "0" "" "" "" "Fam151Pat6" "00324303" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">60y" "0" "" "" "" "Fam151Pat5" "00324304" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">64y" "0" "" "" "" "Fam151Pat4" "00324305" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">69y" "0" "" "" "" "Fam151Pat3" "00324306" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">71y" "0" "" "" "" "Fam151Pat2" "00324307" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">75y" "0" "" "" "" "Fam151Pat1" "00324326" "" "" "" "17" "" "03818" "{PMID:Reinis 2012:22405330}" "7-generation family, 17 affected" "F" "" "Sweden" ">21y" "0" "" "" "" "Fam152Pat17" "00324327" "" "" "00324326" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">17y" "0" "" "" "" "Fam152Pat16" "00324328" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">22y" "0" "" "" "" "Fam152Pat15" "00324329" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">08y" "0" "" "" "" "Fam152Pat14" "00324330" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">32y" "0" "" "" "" "Fam152Pat13" "00324331" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "M" "" "Sweden" ">35y" "0" "" "" "" "Fam152Pat12" "00324332" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">28y" "0" "" "" "" "Fam152Pat11" "00324333" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">36y" "0" "" "" "" "Fam152Pat10" "00324334" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">23y" "0" "" "" "" "Fam152Pat9" "00324335" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">44y" "0" "" "" "" "Fam152Pat8" "00324336" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">56y" "0" "" "" "" "Fam152Pat7" "00324337" "" "" "00324157" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">56y" "0" "" "" "" "Fam152Pat6" "00324387" "" "" "00324326" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">60y" "0" "" "" "" "Fam152Pat5" "00324388" "" "" "00324326" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">59y" "0" "" "" "" "Fam152Pat4" "00324389" "" "" "00324326" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">61y" "0" "" "" "" "Fam152Pat3" "00324390" "" "" "00324326" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">63y" "0" "" "" "" "Fam152Pat2" "00324391" "" "" "00324326" "1" "" "03818" "{PMID:Reinis 2012:22405330}" "" "F" "" "Sweden" ">66y" "0" "" "" "" "Fam152Pat1" "00324392" "" "" "" "1" "" "03818" "{PMID:Wang 2013:30120215}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "?" "0" "" "" "Han" "AVM306" "00326806" "" "" "" "1" "" "03818" "{PMID:Bakhoum, 2018:29176531}" "" "M" "?" "United States" ">85y" "0" "" "" "" "patient" "00327541" "" "" "" "28" "" "00006" "{PMID:Köhn 2007:17377520}" "5-generation family, 28 affected (13F, 15M)" "F;M" "" "Sweden" "" "0" "" "" "" "Fam151" "00327542" "" "" "" "21" "" "00006" "{PMID:Köhn 2007:17377520}" "7-generation family, 21 affected (16F, 5M)" "F;M" "" "Sweden" "" "0" "" "" "" "Fam152" "00327543" "" "" "" "2" "" "00006" "{PMID:Köhn 2010:20590364}" "2-generation family, affected mother/daughter" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamUK" "00327544" "" "" "" "1" "" "00006" "{PMID:Köhn 2010:20590364}" "patient" "" "" "Germany" "" "0" "" "" "" "FamGer" "00327545" "" "" "" "1" "" "00006" "{PMID:Köhn 2010:20590364}" "" "" "" "United States" "" "0" "" "" "" "patient" "00327546" "" "" "" "1" "" "00006" "{PMID:Köhn 2010:20590364}" "" "" "" "Sweden" "" "0" "" "" "" "patient" "00333353" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat9" "00358948" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71522" "00359333" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "32296" "00373864" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp278B" "00374924" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "S4-1" "00375415" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#007" "00375428" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#022" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00377722" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "" "" "no" "" "" "0" "" "" "white" "" "00379651" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0033" "00381173" "" "" "" "1" "" "00008" "{PMID:Neveling-2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00381174" "" "" "" "1" "" "00008" "{PMID:Neveling-2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00381808" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00382575" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "437" "00382576" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "438" "00382577" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "439" "00385417" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "M" "" "Taiwan" "" "0" "" "" "" "F28-II-3" "00386198" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-153, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-317" "00386222" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-178, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-363" "00386228" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-407" "00386253" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-520" "00389733" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 491, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1017" "00447011" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-477" "00447501" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-426" "00447577" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "OAK-717" "00447723" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "UD-103" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 73 "{{individualid}}" "{{diseaseid}}" "00060208" "00112" "00060209" "00112" "00100098" "04214" "00291822" "00198" "00324157" "02332" "00324158" "02332" "00324159" "02332" "00324160" "02332" "00324161" "02332" "00324162" "02332" "00324163" "02332" "00324164" "02332" "00324165" "02332" "00324166" "02332" "00324300" "02332" "00324301" "02332" "00324302" "02332" "00324303" "02332" "00324304" "02332" "00324305" "02332" "00324306" "02332" "00324307" "02332" "00324326" "02332" "00324327" "02332" "00324328" "02332" "00324329" "02332" "00324330" "02332" "00324331" "02332" "00324332" "02332" "00324333" "02332" "00324334" "02332" "00324335" "02332" "00324336" "02332" "00324337" "02332" "00324387" "02332" "00324388" "02332" "00324389" "02332" "00324390" "02332" "00324391" "02332" "00324392" "00198" "00326806" "04214" "00327541" "04214" "00327542" "04214" "00327543" "04214" "00327544" "04214" "00327545" "04214" "00327546" "04214" "00333353" "04214" "00358948" "04214" "00359333" "04214" "00373864" "04214" "00374924" "04214" "00375415" "04214" "00375428" "04214" "00375435" "04214" "00377722" "04214" "00379651" "04215" "00381173" "04214" "00381174" "04214" "00381808" "04214" "00382575" "04214" "00382576" "04214" "00382577" "04214" "00385417" "04214" "00386198" "04214" "00386222" "04214" "00386228" "04214" "00386253" "04214" "00389733" "04214" "00447011" "00198" "00447501" "00198" "00447577" "00198" "00447723" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 00198, 02332, 04214, 04215 ## Count = 69 "{{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}}" "0000046698" "00112" "00060208" "00130" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046699" "00112" "00060209" "00130" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242738" "02332" "00324157" "03818" "Familial, autosomal dominant" "12y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), Color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242739" "02332" "00324158" "03818" "Familial, autosomal dominant" "25y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242740" "02332" "00324159" "03818" "Familial, autosomal dominant" "35y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242741" "02332" "00324160" "03818" "Familial, autosomal dominant" "26y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242742" "02332" "00324161" "03818" "Familial, autosomal dominant" "32y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242743" "02332" "00324162" "03818" "Familial, autosomal dominant" "32y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242744" "02332" "00324163" "03818" "Familial, autosomal dominant" "46y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242745" "02332" "00324164" "03818" "Familial, autosomal dominant" "32y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242746" "02332" "00324165" "03818" "Familial, autosomal dominant" "27y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), Color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242747" "02332" "00324166" "03818" "Familial, autosomal dominant" "44y" "macular degeneration (HP:0000608), progressive visual loss (HP:0000529), Color vision defect (HP:0000551)" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242861" "02332" "00324300" "03818" "Familial, autosomal dominant" "53y" "color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242862" "02332" "00324301" "03818" "Familial, autosomal dominant" "72y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242863" "02332" "00324302" "03818" "Familial, autosomal dominant" "51y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242864" "02332" "00324303" "03818" "Familial, autosomal dominant" "60y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242865" "02332" "00324304" "03818" "Familial, autosomal dominant" "64y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242866" "02332" "00324305" "03818" "Familial, autosomal dominant" "69y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242867" "02332" "00324306" "03818" "Familial, autosomal dominant" "71y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242868" "02332" "00324307" "03818" "Familial, autosomal dominant" "75y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242869" "02332" "00324326" "03818" "Familial, autosomal dominant" "21y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242870" "02332" "00324327" "03818" "Familial, autosomal dominant" "17y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242871" "02332" "00324328" "03818" "Familial, autosomal dominant" "22y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242872" "02332" "00324329" "03818" "Familial, autosomal dominant" "08y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242873" "02332" "00324330" "03818" "Familial, autosomal dominant" "32y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242874" "02332" "00324331" "03818" "Familial, autosomal dominant" "35y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242875" "02332" "00324332" "03818" "Familial, autosomal dominant" "28y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242876" "02332" "00324333" "03818" "Familial, autosomal dominant" "36y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242877" "02332" "00324334" "03818" "Familial, autosomal dominant" "23y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242878" "02332" "00324335" "03818" "Familial, autosomal dominant" "44y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242879" "02332" "00324336" "03818" "Familial, autosomal dominant" "56y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242880" "02332" "00324337" "03818" "Familial, autosomal dominant" "56y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242927" "02332" "00324387" "03818" "Familial, autosomal dominant" "60y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242928" "02332" "00324388" "03818" "Familial, autosomal dominant" "59y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242929" "02332" "00324389" "03818" "Familial, autosomal dominant" "61y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242930" "02332" "00324390" "03818" "Familial, autosomal dominant" "63y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000242931" "02332" "00324391" "03818" "Familial, autosomal dominant" "66y" "Color vision defect (HP:0000551), progressive visual loss (HP:0000529), macular degeneration HP:0000608" "" "" "" "" "" "" "" "" "CORD5" "cone-rod dystrophy" "" "0000244879" "00198" "00324392" "03818" "Isolated (sporadic)" "" "cerebral arteriovenous malformation" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000245279" "04214" "00326806" "03818" "Familial, autosomal dominant" "85y" "see paper; ..., diabetes mellitus type 2, hypertension, benign prostate hyperplasia, 2 episodes of ischemic stroke, decreased vision after cataract surgery with multifocal lens implant" "" "" "" "" "" "" "" "" "" "autoimmune retinopathy" "" "0000245807" "04214" "00327541" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CORD5" "cone dystrophy" "" "0000245808" "04214" "00327542" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CORD5" "cone dystrophy" "" "0000245809" "04214" "00327543" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CORD5" "macular dystrophy" "" "0000245810" "04214" "00327544" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CORD5" "cone dystrophy" "" "0000251540" "04214" "00333353" "00000" "Familial, autosomal dominant" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254246" "04214" "00358948" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000254629" "04214" "00359333" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000269073" "04214" "00373864" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270134" "04214" "00374924" "00000" "Isolated (sporadic)" "23y" "best corrected visual acuity 0.4/0.5" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270629" "04214" "00375415" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270642" "04214" "00375428" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272873" "04214" "00377722" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa, Other retinal degeneration" "" "0000273495" "04215" "00379651" "03508" "Familial, autosomal dominant" "" "HP:0032037,\tHP:0001129,\tHP:0000006,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" "" "0000275024" "04214" "00381173" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275025" "04214" "00381174" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275650" "04214" "00381808" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000276424" "04214" "00382575" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276425" "04214" "00382576" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276426" "04214" "00382577" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000279213" "04214" "00385417" "00000" "Familial, autosomal dominant" "48y" "48" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "Cone-rod dystrophy" "" "0000280001" "04214" "00386198" "00000" "Familial, autosomal recessive" "14y" "" "" "13y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000280025" "04214" "00386222" "00000" "Familial, autosomal recessive" "33y" "" "" "24y" "" "" "" "" "" "" "Best macular dystrophy" "" "" "0000280031" "04214" "00386228" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280056" "04214" "00386253" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000283274" "04214" "00389733" "00000" "Familial, autosomal dominant" "56y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000336210" "00198" "00447011" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336700" "00198" "00447501" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336776" "00198" "00447577" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "0000336922" "00198" "00447723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000060195" "00060208" "1" "00130" "00008" "2013-10-01 11:18:23" "" "" "SEQ" "DNA" "" "" "0000060196" "00060209" "1" "00130" "00008" "2013-10-01 11:21:36" "" "" "SEQ" "DNA" "" "" "0000100502" "00100098" "1" "01769" "01769" "2017-01-30 18:48:35" "" "" "SEQ" "DNA" "WBC" "" "0000292990" "00291822" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325347" "00324157" "1" "03818" "03818" "2020-12-03 09:47:17" "00006" "2020-12-11 10:08:23" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000325348" "00324158" "1" "03818" "03818" "2020-12-03 10:24:48" "" "" "PCR;RFLP" "DNA" "blood" "" "0000325349" "00324159" "1" "03818" "03818" "2020-12-03 10:36:07" "" "" "PCR;RFLP" "DNA" "blood" "" "0000325350" "00324160" "1" "03818" "03818" "2020-12-03 10:41:39" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325351" "00324161" "1" "03818" "03818" "2020-12-03 10:50:53" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325352" "00324162" "1" "03818" "03818" "2020-12-03 10:56:48" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325353" "00324163" "1" "03818" "03818" "2020-12-03 11:31:59" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325354" "00324164" "1" "03818" "03818" "2020-12-03 11:37:01" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325355" "00324165" "1" "03818" "03818" "2020-12-03 11:44:29" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325356" "00324166" "1" "03818" "03818" "2020-12-03 11:49:03" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325490" "00324300" "1" "03818" "03818" "2020-12-07 09:25:00" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325491" "00324301" "1" "03818" "03818" "2020-12-07 09:30:17" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325492" "00324302" "1" "03818" "03818" "2020-12-07 09:33:50" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325493" "00324303" "1" "03818" "03818" "2020-12-07 09:38:49" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325494" "00324304" "1" "03818" "03818" "2020-12-07 09:41:59" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325495" "00324305" "1" "03818" "03818" "2020-12-07 09:45:15" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325496" "00324306" "1" "03818" "03818" "2020-12-07 09:48:29" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325497" "00324307" "1" "03818" "03818" "2020-12-07 09:51:31" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325516" "00324326" "1" "03818" "03818" "2020-12-07 11:17:12" "00006" "2020-12-11 10:07:07" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000325517" "00324327" "1" "03818" "03818" "2020-12-07 11:34:34" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325518" "00324328" "1" "03818" "03818" "2020-12-07 11:37:36" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325519" "00324329" "1" "03818" "03818" "2020-12-07 11:40:20" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325520" "00324330" "1" "03818" "03818" "2020-12-07 11:43:17" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325521" "00324331" "1" "03818" "03818" "2020-12-07 11:45:57" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325522" "00324332" "1" "03818" "03818" "2020-12-07 11:48:27" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325523" "00324333" "1" "03818" "03818" "2020-12-07 11:50:44" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325524" "00324334" "1" "03818" "03818" "2020-12-07 11:54:34" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325525" "00324335" "1" "03818" "03818" "2020-12-07 12:01:20" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325526" "00324336" "1" "03818" "03818" "2020-12-07 12:04:25" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325527" "00324337" "1" "03818" "03818" "2020-12-07 12:07:48" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325577" "00324387" "1" "03818" "03818" "2020-12-11 08:41:41" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325578" "00324388" "1" "03818" "03818" "2020-12-11 08:45:13" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325579" "00324389" "1" "03818" "03818" "2020-12-11 08:47:54" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325580" "00324390" "1" "03818" "03818" "2020-12-11 08:50:36" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325581" "00324391" "1" "03818" "03818" "2020-12-11 08:52:56" "00006" "2020-12-11 10:08:23" "PCR;RFLP" "DNA" "blood" "" "0000325582" "00324392" "1" "03818" "03818" "2020-12-11 10:41:24" "" "" "SEQ" "DNA" "blood" "WES" "0000328019" "00326806" "1" "03818" "03818" "2021-01-14 21:36:34" "" "" "Western" "DNA" "" "" "0000328756" "00327541" "1" "00006" "00006" "2021-01-23 14:09:33" "" "" "SEQ" "DNA" "" "" "0000328757" "00327542" "1" "00006" "00006" "2021-01-23 14:09:33" "" "" "SEQ" "DNA" "" "" "0000328758" "00327543" "1" "00006" "00006" "2021-01-23 14:09:33" "" "" "SEQ" "DNA" "" "" "0000328759" "00327544" "1" "00006" "00006" "2021-01-23 14:09:33" "" "" "SEQ" "DNA" "" "" "0000328760" "00327545" "1" "00006" "00006" "2021-01-23 14:23:12" "" "" "SEQ" "DNA" "" "" "0000328761" "00327546" "1" "00006" "00006" "2021-01-23 14:25:48" "" "" "SEQ" "DNA" "" "" "0000334578" "00333353" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000360185" "00358948" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360574" "00359333" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000375096" "00373864" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376118" "00374924" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376612" "00375415" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376625" "00375428" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378926" "00377722" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000380851" "00379651" "1" "03508" "03508" "2021-08-06 06:58:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000382388" "00381173" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "Exome Sequencing" "0000382389" "00381174" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "Exome Sequencing" "0000383024" "00381808" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383789" "00382575" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383790" "00382576" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383791" "00382577" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000386646" "00385417" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387427" "00386198" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387451" "00386222" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387457" "00386228" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387482" "00386253" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000390976" "00389733" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000448588" "00447011" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449078" "00447501" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449154" "00447577" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449300" "00447723" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{geneid}}" "0000060195" "PITPNM3" "0000060196" "PITPNM3" "0000100502" "FAM161A" "0000325347" "PITPNM3" "0000325348" "PITPNM3" "0000325349" "PITPNM3" "0000325350" "PITPNM3" "0000325351" "PITPNM3" "0000325352" "PITPNM3" "0000325353" "PITPNM3" "0000325354" "PITPNM3" "0000325355" "PITPNM3" "0000325356" "PITPNM3" "0000325490" "PITPNM3" "0000325491" "PITPNM3" "0000325492" "PITPNM3" "0000325493" "PITPNM3" "0000325494" "PITPNM3" "0000325495" "PITPNM3" "0000325496" "PITPNM3" "0000325497" "PITPNM3" "0000325516" "PITPNM3" "0000325517" "PITPNM3" "0000325518" "PITPNM3" "0000325519" "PITPNM3" "0000325520" "PITPNM3" "0000325521" "PITPNM3" "0000325522" "PITPNM3" "0000325523" "PITPNM3" "0000325524" "PITPNM3" "0000325525" "PITPNM3" "0000325526" "PITPNM3" "0000325527" "PITPNM3" "0000325577" "PITPNM3" "0000325578" "PITPNM3" "0000325579" "PITPNM3" "0000325580" "PITPNM3" "0000325581" "PITPNM3" "0000325582" "PITPNM3" "0000328019" "PITPNM3" "0000328756" "PITPNM3" "0000328757" "PITPNM3" "0000328758" "PITPNM3" "0000328759" "PITPNM3" "0000328760" "PITPNM3" "0000328761" "PITPNM3" "0000334578" "ROM1" "0000360574" "PITPNM3" "0000375096" "PITPNM3" "0000378926" "PITPNM3" "0000382388" "PITPNM3" "0000382389" "PITPNM3" "0000383024" "PITPNM3" "0000383789" "PITPNM3" "0000383790" "PITPNM3" "0000383791" "PITPNM3" "0000386646" "PITPNM3" "0000387427" "ABCA4" "0000387451" "BEST1" "0000387457" "BBS2" "0000387482" "PITPNM3" "0000390976" "PITPNM3" ## 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 = 146 "{{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}}" "0000091168" "0" "50" "17" "6368084" "6368084" "subst" "1.62607E-5" "00130" "PITPNM3_000001" "g.6368084G>A" "" "" "" "" "confirmed in affected relative" "Unknown" "" "" "0" "" "" "g.6464764G>A" "" "VUS" "" "0000091169" "1" "50" "17" "6368084" "6368084" "subst" "1.62607E-5" "00130" "PITPNM3_000001" "g.6368084G>A" "" "" "" "" "confirmed in affected relative" "Unknown" "" "" "0" "" "" "g.6464764G>A" "" "VUS" "" "0000248700" "0" "10" "17" "6364753" "6364753" "subst" "0.865789" "02325" "PITPNM3_000006" "g.6364753A>G" "" "" "" "PITPNM3(NM_031220.4):c.2430T>C (p.D810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6461433A>G" "" "benign" "" "0000276603" "0" "50" "17" "6352718" "6352718" "subst" "1.63437E-5" "01943" "FAM64A_000001" "g.6352718C>T" "" "" "" "PIMREG(NM_019013.3):c.677C>T (p.A226V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6449398C>T" "" "VUS" "" "0000293773" "0" "10" "17" "6376098" "6376098" "subst" "1.22109E-5" "02330" "PITPNM3_000010" "g.6376098G>A" "" "" "" "PITPNM3(NM_031220.4):c.1308C>T (p.C436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6472778G>A" "" "benign" "" "0000293774" "0" "10" "17" "6374567" "6374567" "subst" "3.27469E-5" "02330" "PITPNM3_000009" "g.6374567C>T" "" "" "" "PITPNM3(NM_031220.4):c.1538G>A (p.R513H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6471247C>T" "" "benign" "" "0000293775" "0" "30" "17" "6459690" "6459690" "subst" "0.00163181" "02330" "PITPNM3_000020" "g.6459690C>G" "" "" "" "PITPNM3(NM_031220.4):c.22+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556370C>G" "" "likely benign" "" "0000293776" "0" "10" "17" "6360970" "6360970" "subst" "0" "02330" "PITPNM3_000004" "g.6360970C>G" "" "" "" "PITPNM3(NM_031220.4):c.2563G>C (p.A855P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6457650C>G" "" "benign" "" "0000293779" "0" "30" "17" "6381897" "6381897" "subst" "8.12863E-5" "02330" "PITPNM3_000012" "g.6381897C>T" "" "" "" "PITPNM3(NM_031220.4):c.747G>A (p.K249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6478577C>T" "" "likely benign" "" "0000296983" "0" "10" "17" "6406883" "6406883" "subst" "0.28277" "02325" "PITPNM3_000016" "g.6406883C>T" "" "" "" "PITPNM3(NM_031220.4):c.238G>A (p.A80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6503563C>T" "" "benign" "" "0000305689" "0" "30" "17" "6380344" "6380344" "del" "0" "01943" "PITPNM3_000011" "g.6380344del" "" "" "" "PITPNM3(NM_031220.3):c.1085+8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6477024del" "" "likely benign" "" "0000305690" "0" "50" "17" "6367532" "6367532" "subst" "0" "01943" "PITPNM3_000008" "g.6367532C>A" "" "" "" "PITPNM3(NM_031220.3):c.2114G>T (p.R705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6464212C>A" "" "VUS" "" "0000305691" "0" "30" "17" "6428686" "6428686" "subst" "0.00102742" "01943" "PITPNM3_000017" "g.6428686G>A" "" "" "" "PITPNM3(NM_031220.3):c.216C>T (p.D72=), PITPNM3(NM_031220.4):c.216C>T (p.D72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6525366G>A" "" "likely benign" "" "0000305692" "0" "30" "17" "6364828" "6364828" "subst" "0.000657863" "01943" "PITPNM3_000007" "g.6364828C>T" "" "" "" "PITPNM3(NM_031220.3):c.2355G>A (p.P785=), PITPNM3(NM_031220.4):c.2355G>A (p.P785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6461508C>T" "" "likely benign" "" "0000305693" "0" "30" "17" "6364711" "6364711" "subst" "0.00276461" "01943" "PITPNM3_000005" "g.6364711C>T" "" "" "" "PITPNM3(NM_031220.3):c.2472G>A (p.L824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6461391C>T" "" "likely benign" "" "0000305694" "0" "30" "17" "6387557" "6387557" "subst" "0.000446791" "01943" "PITPNM3_000015" "g.6387557G>A" "" "" "" "PITPNM3(NM_031220.3):c.330C>T (p.I110=), PITPNM3(NM_031220.4):c.330C>T (p.I110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6484237G>A" "" "likely benign" "" "0000305695" "0" "30" "17" "6441383" "6441383" "subst" "8.15381E-6" "01943" "PITPNM3_000019" "g.6441383G>A" "" "" "" "PITPNM3(NM_031220.3):c.42C>T (p.G14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6538063G>A" "" "likely benign" "" "0000305696" "0" "30" "17" "6386848" "6386848" "subst" "0.000367969" "01943" "PITPNM3_000014" "g.6386848C>T" "" "" "" "PITPNM3(NM_031220.3):c.576G>A (p.S192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6483528C>T" "" "likely benign" "" "0000305697" "0" "30" "17" "6441363" "6441363" "subst" "0.000284747" "01943" "PITPNM3_000018" "g.6441363C>T" "" "" "" "PITPNM3(NM_031220.3):c.62G>A (p.R21Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6538043C>T" "" "likely benign" "" "0000305698" "0" "30" "17" "6381945" "6381945" "subst" "0.00770032" "01943" "PITPNM3_000013" "g.6381945G>A" "" "" "" "PITPNM3(NM_031220.3):c.699C>T (p.V233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6478625G>A" "" "likely benign" "" "0000349586" "0" "50" "17" "6368084" "6368084" "subst" "1.62607E-5" "02327" "PITPNM3_000001" "g.6368084G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6464764G>A" "" "VUS" "" "0000562804" "0" "30" "17" "6353730" "6353730" "subst" "3.24517E-5" "01943" "FAM64A_000002" "g.6353730T>C" "" "" "" "FAM64A(NM_001195228.1):c.735T>C (p.Y245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6450410T>C" "" "likely benign" "" "0000562811" "0" "30" "17" "6358883" "6358883" "subst" "0.000322772" "02330" "FAM64A_000003" "g.6358883G>A" "" "" "" "PITPNM3(NM_031220.4):c.2700C>T (p.R900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6455563G>A" "" "likely benign" "" "0000562812" "0" "10" "17" "6358981" "6358982" "ins" "0" "02330" "FAM64A_000004" "g.6358981_6358982insTGCAG" "" "" "" "PITPNM3(NM_031220.4):c.2620-17_2620-16insGCACT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6455661_6455662insTGCAG" "" "benign" "" "0000562813" "0" "10" "17" "6358989" "6358998" "dup" "0" "02330" "FAM64A_000005" "g.6358989_6358998dup" "" "" "" "PITPNM3(NM_031220.4):c.2620-14_2620-5dupCCTGCCCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6455669_6455678dup" "" "benign" "" "0000562814" "0" "10" "17" "6367111" "6367111" "subst" "0" "02330" "PITPNM3_000021" "g.6367111G>A" "" "" "" "PITPNM3(NM_031220.3):c.2247C>T (p.A749=), PITPNM3(NM_031220.4):c.2247C>T (p.A749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6463791G>A" "" "benign" "" "0000562815" "0" "30" "17" "6367111" "6367111" "subst" "0" "01943" "PITPNM3_000021" "g.6367111G>A" "" "" "" "PITPNM3(NM_031220.3):c.2247C>T (p.A749=), PITPNM3(NM_031220.4):c.2247C>T (p.A749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6463791G>A" "" "likely benign" "" "0000562816" "0" "50" "17" "6367539" "6367539" "subst" "0.000642094" "02330" "PITPNM3_000022" "g.6367539G>A" "" "" "" "PITPNM3(NM_031220.3):c.2107C>T (p.R703W), PITPNM3(NM_031220.4):c.2107C>T (p.R703W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6464219G>A" "" "VUS" "" "0000562817" "0" "30" "17" "6367539" "6367539" "subst" "0.000642094" "01943" "PITPNM3_000022" "g.6367539G>A" "" "" "" "PITPNM3(NM_031220.3):c.2107C>T (p.R703W), PITPNM3(NM_031220.4):c.2107C>T (p.R703W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6464219G>A" "" "likely benign" "" "0000562818" "0" "30" "17" "6371557" "6371557" "subst" "0.00160364" "02330" "PITPNM3_000023" "g.6371557C>G" "" "" "" "PITPNM3(NM_031220.3):c.1878G>C (p.Q626H), PITPNM3(NM_031220.4):c.1878G>C (p.Q626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468237C>G" "" "likely benign" "" "0000562819" "0" "30" "17" "6371557" "6371557" "subst" "0.00160364" "01943" "PITPNM3_000023" "g.6371557C>G" "" "" "" "PITPNM3(NM_031220.3):c.1878G>C (p.Q626H), PITPNM3(NM_031220.4):c.1878G>C (p.Q626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468237C>G" "" "likely benign" "" "0000562820" "0" "30" "17" "6374506" "6374506" "subst" "0.000122442" "01943" "PITPNM3_000024" "g.6374506G>A" "" "" "" "PITPNM3(NM_031220.3):c.1599C>T (p.S533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6471186G>A" "" "likely benign" "" "0000562821" "0" "10" "17" "6374593" "6374593" "subst" "8.22659E-5" "02330" "PITPNM3_000025" "g.6374593C>T" "" "" "" "PITPNM3(NM_031220.4):c.1512G>A (p.S504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6471273C>T" "" "benign" "" "0000562822" "0" "50" "17" "6380377" "6380377" "subst" "0" "01943" "PITPNM3_000026" "g.6380377T>C" "" "" "" "PITPNM3(NM_031220.3):c.1057A>G (p.I353V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6477057T>C" "" "VUS" "" "0000562823" "0" "10" "17" "6381346" "6381346" "subst" "0" "02330" "PITPNM3_000027" "g.6381346T>C" "" "" "" "PITPNM3(NM_031220.3):c.849A>G (p.S283=), PITPNM3(NM_031220.4):c.849A>G (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6478026T>C" "" "benign" "" "0000562824" "0" "30" "17" "6381346" "6381346" "subst" "0" "01943" "PITPNM3_000027" "g.6381346T>C" "" "" "" "PITPNM3(NM_031220.3):c.849A>G (p.S283=), PITPNM3(NM_031220.4):c.849A>G (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6478026T>C" "" "likely benign" "" "0000562825" "0" "50" "17" "6381944" "6381944" "subst" "7.73294E-5" "01943" "PITPNM3_000028" "g.6381944C>T" "" "" "" "PITPNM3(NM_031220.3):c.700G>A (p.A234T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6478624C>T" "" "VUS" "" "0000562826" "0" "30" "17" "6387521" "6387521" "subst" "0.000162747" "02330" "PITPNM3_000029" "g.6387521C>T" "" "" "" "PITPNM3(NM_031220.4):c.351+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6484201C>T" "" "likely benign" "" "0000562827" "0" "50" "17" "6387600" "6387600" "subst" "0.000377714" "01943" "PITPNM3_000030" "g.6387600C>T" "" "" "" "PITPNM3(NM_031220.3):c.287G>A (p.R96Q), PITPNM3(NM_031220.4):c.287G>A (p.R96Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6484280C>T" "" "VUS" "" "0000562828" "0" "10" "17" "6428667" "6428667" "subst" "0.000682261" "02330" "PITPNM3_000031" "g.6428667G>C" "" "" "" "PITPNM3(NM_031220.4):c.226+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6525347G>C" "" "benign" "" "0000616768" "0" "30" "17" "6373670" "6373670" "subst" "0" "01943" "PITPNM3_000033" "g.6373670G>A" "" "" "" "PITPNM3(NM_031220.3):c.1683C>T (p.V561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470350G>A" "" "likely benign" "" "0000616769" "0" "30" "17" "6387557" "6387557" "subst" "0.000446791" "02330" "PITPNM3_000015" "g.6387557G>A" "" "" "" "PITPNM3(NM_031220.3):c.330C>T (p.I110=), PITPNM3(NM_031220.4):c.330C>T (p.I110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6484237G>A" "" "likely benign" "" "0000616770" "0" "30" "17" "6428701" "6428701" "subst" "1.21827E-5" "02330" "PITPNM3_000036" "g.6428701G>A" "" "" "" "PITPNM3(NM_031220.4):c.201C>T (p.T67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6525381G>A" "" "likely benign" "" "0000623742" "0" "50" "17" "6367209" "6367213" "del" "0" "01943" "PITPNM3_000032" "g.6367209_6367213del" "" "" "" "PITPNM3(NM_031220.3):c.2157-12_2157-8delGGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6463889_6463893del" "" "VUS" "" "0000623743" "0" "30" "17" "6377882" "6377882" "subst" "0.000473582" "02330" "PITPNM3_000034" "g.6377882C>T" "" "" "" "PITPNM3(NM_031220.3):c.1128G>A (p.A376=), PITPNM3(NM_031220.4):c.1128G>A (p.A376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6474562C>T" "" "likely benign" "" "0000623744" "0" "30" "17" "6380447" "6380447" "subst" "0.000690726" "02330" "PITPNM3_000035" "g.6380447C>T" "" "" "" "PITPNM3(NM_031220.3):c.987G>A (p.L329=), PITPNM3(NM_031220.4):c.987G>A (p.L329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6477127C>T" "" "likely benign" "" "0000649679" "1" "50" "17" "6373665" "6373665" "subst" "0.000501133" "03575" "PITPNM3_000037" "g.6373665G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs139119218}" "Germline" "" "rs139119218" "0" "" "" "g.6470345G>A" "" "VUS" "" "0000692440" "0" "30" "17" "6373652" "6373652" "subst" "7.7577E-5" "01943" "PITPNM3_000038" "g.6373652G>A" "" "" "" "PITPNM3(NM_031220.3):c.1701C>T (p.T567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692441" "0" "30" "17" "6377882" "6377882" "subst" "0.000473582" "01943" "PITPNM3_000034" "g.6377882C>T" "" "" "" "PITPNM3(NM_031220.3):c.1128G>A (p.A376=), PITPNM3(NM_031220.4):c.1128G>A (p.A376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692442" "0" "30" "17" "6380447" "6380447" "subst" "0.000690726" "01943" "PITPNM3_000035" "g.6380447C>T" "" "" "" "PITPNM3(NM_031220.3):c.987G>A (p.L329=), PITPNM3(NM_031220.4):c.987G>A (p.L329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692443" "0" "50" "17" "6381869" "6381869" "subst" "0" "01943" "PITPNM3_000039" "g.6381869G>T" "" "" "" "PITPNM3(NM_031220.3):c.775C>A (p.Q259K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692444" "0" "30" "17" "6459711" "6459711" "subst" "0" "01943" "PITPNM3_000040" "g.6459711G>A" "" "" "" "PITPNM3(NM_031220.3):c.16C>T (p.R6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708337" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708338" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708339" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708340" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708341" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708342" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708343" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708344" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708345" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708346" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708500" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708501" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708502" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708503" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708504" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708505" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708506" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708507" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708526" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708527" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708528" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708529" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708530" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708531" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708532" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708533" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708534" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708535" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708536" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708537" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708696" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708697" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708698" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708699" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708700" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "03818" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Reinis 2012:22405330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000708704" "0" "90" "17" "6406847" "6406847" "subst" "0" "03818" "PITPNM3_000041" "g.6406847G>A" "" "{PMID:Wang 2018:30120215}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000711852" "0" "90" "17" "6360954" "6360954" "subst" "3.28108E-5" "03818" "PITPNM3_000042" "g.6360954A>G" "" "{PMID:Bakhoum, 2018:29176531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.6457634A>G" "" "likely pathogenic (dominant)" "" "0000712786" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "00006" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Köhn 2007:17377520}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000712787" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "00006" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Köhn 2007:17377520}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000712788" "21" "90" "17" "6371557" "6371557" "subst" "0.00160364" "00006" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Köhn 2010:20590364}" "" "" "" "Germline" "" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000712789" "0" "90" "17" "6380409" "6380409" "subst" "4.06455E-6" "00006" "PITPNM3_000043" "g.6380409T>G" "" "{PMID:Köhn 2010:20590364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.6468237C>G" "" "pathogenic (dominant)" "" "0000712790" "0" "50" "17" "6380578" "6380578" "subst" "4.97649E-5" "00006" "PITPNM3_000044" "g.6380578C>T" "" "{PMID:Köhn 2010:20590364}" "" "" "" "Germline" "" "" "0" "" "" "g.6477258C>T" "" "VUS" "" "0000712791" "0" "50" "17" "6381235" "6381235" "subst" "0" "00006" "PITPNM3_000045" "g.6381235G>A" "" "{PMID:Köhn 2010:20590364}" "" "" "not in 95 controls" "Germline" "" "" "0" "" "" "g.6477915G>A" "" "VUS" "" "0000726625" "0" "50" "17" "6358689" "6358689" "subst" "0" "02330" "FAM64A_000006" "g.6358689C>T" "" "" "" "PITPNM3(NM_031220.4):c.2894G>A (p.R965H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726626" "0" "30" "17" "6381406" "6381406" "subst" "7.76087E-5" "01943" "PITPNM3_000046" "g.6381406G>A" "" "" "" "PITPNM3(NM_031220.3):c.789C>T (p.I263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732456" "0" "50" "17" "6373682" "6373682" "subst" "0.00159968" "00000" "PITPNM3_000047" "g.6373682G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.6470362G>A" "" "VUS" "" "0000735190" "3" "30" "17" "6386947" "6386947" "subst" "0.050139" "00000" "PITPNM3_000048" "g.6386947G>A" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "rs34897053" "0" "" "" "g.6483627G>A" "" "likely benign" "" "0000759976" "0" "50" "17" "6373697" "6373697" "subst" "6.91901E-5" "00000" "PITPNM3_000049" "g.6373697G>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.6470377G>C" "" "VUS" "" "0000760606" "1" "50" "17" "6371557" "6371557" "subst" "0.00160364" "00000" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Khan 2017:27160483}" "" "" "variant identified in many control samples" "Germline" "" "" "0" "" "" "g.6468237C>G" "" "VUS" "" "0000786363" "1" "90" "17" "6371557" "6371557" "subst" "0.00160364" "00000" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.6468237C>G" "" "pathogenic" "" "0000787651" "1" "70" "17" "6367125" "6367125" "subst" "0" "00000" "PITPNM3_000050" "g.6367125C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6463805C>T" "" "likely pathogenic" "" "0000788392" "0" "50" "17" "6406882" "6406882" "subst" "4.1262E-5" "00000" "PITPNM3_000053" "g.6406882G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C239T" "" "Germline" "" "rs144918108" "0" "" "" "g.6503562G>A" "" "VUS" "" "0000788472" "0" "50" "17" "6374504" "6374504" "subst" "4.0815E-6" "00000" "PITPNM3_000051" "g.6374504A>T" "" "{PMID:Katagiri 2014:25268133}" "" "T1601A" "" "Germline" "" "" "0" "" "" "g.6471184A>T" "" "VUS" "" "0000788524" "0" "50" "17" "6387591" "6387591" "subst" "0" "00000" "PITPNM3_000052" "g.6387591A>G" "" "{PMID:Katagiri 2014:25268133}" "" "T296C" "" "Germline" "" "" "0" "" "" "g.6484271A>G" "" "VUS" "" "0000791916" "0" "10" "17" "6367538" "6367538" "subst" "0" "00000" "PITPNM3_000055" "g.6367538G>A" "" "{PMID:Bowne 2011:20861475}" "" "c.2108C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000794064" "0" "70" "17" "6441370" "6441370" "subst" "0" "03508" "PITPNM3_000054" "g.6441370G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000796179" "0" "70" "17" "6368084" "6368084" "subst" "1.62607E-5" "00000" "PITPNM3_000001" "g.6368084G>A" "" "{PMID:Neveling-2013:24123792}" "" "c.1898C>T" "confirmed in affected relative" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000796180" "0" "70" "17" "6368084" "6368084" "subst" "1.62607E-5" "00000" "PITPNM3_000001" "g.6368084G>A" "" "{PMID:Neveling-2013:24123792}" "" "c.1898C>T" "confirmed in affected relative" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000797008" "0" "50" "17" "6376011" "6376011" "subst" "0" "00000" "PITPNM3_000056" "g.6376011C>G" "" "{PMID:Wang-2014:24154662}" "" "c.1395G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000798044" "0" "50" "17" "6371557" "6371557" "subst" "0.00160364" "00000" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "PITPNM3 c.1878G>C, p.(Gln626His)" "" "Germline" "?" "" "0" "" "" "g.6468237C>G" "" "VUS" "ACMG" "0000798045" "0" "50" "17" "6373665" "6373665" "subst" "0.000501133" "00000" "PITPNM3_000037" "g.6373665G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PITPNM3 c.1688C>T, p.(Thr563Met)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.6470345G>A" "" "VUS" "ACMG" "0000798046" "3" "50" "17" "6371557" "6371557" "subst" "0.00160364" "00000" "PITPNM3_000023" "g.6371557C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "PITPNM3 c.1878G>C, p.(Gln626His), c.1878G>C, p.(Gln626His)" "homozygous" "Germline" "?" "" "0" "" "" "g.6468237C>G" "" "VUS" "ACMG" "0000808220" "0" "10" "17" "6360897" "6360908" "del" "0" "02330" "PITPNM3_000057" "g.6360897_6360908del" "" "" "" "PITPNM3(NM_031220.4):c.2619+17_2619+28delCTGGAGGCGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808221" "0" "30" "17" "6364882" "6364882" "subst" "0.000349423" "01943" "PITPNM3_000058" "g.6364882G>A" "" "" "" "PITPNM3(NM_031220.3):c.2307-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808222" "0" "10" "17" "6374628" "6374628" "subst" "0.000682365" "02330" "PITPNM3_000059" "g.6374628G>A" "" "" "" "PITPNM3(NM_031220.4):c.1477C>T (p.R493W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808223" "0" "30" "17" "6380520" "6380520" "subst" "3.6569E-5" "02330" "PITPNM3_000060" "g.6380520G>A" "" "" "" "PITPNM3(NM_031220.4):c.914C>T (p.A305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808224" "0" "10" "17" "6386992" "6386992" "subst" "0.000723654" "02330" "PITPNM3_000061" "g.6386992G>A" "" "" "" "PITPNM3(NM_031220.4):c.432C>T (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808225" "0" "50" "17" "6387553" "6387553" "subst" "0.000146214" "01943" "PITPNM3_000062" "g.6387553T>C" "" "" "" "PITPNM3(NM_031220.3):c.334A>G (p.I112V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814284" "0" "70" "17" "6381957" "6381957" "subst" "0" "00000" "PITPNM3_000063" "g.6381957G>C" "" "{PMID:Chen 2020:31872526}" "" "PITPNM3:NM_001165966:exon6:c.579C>G:p.Y193X" "different transcript: NM_001165966.1(PITPNM3):c.579C>G, p.Y193X; heterozygous" "Germline" "?" "" "0" "" "" "g.6478637G>C" "" "likely pathogenic" "" "0000815366" "0" "50" "17" "6373665" "6373665" "subst" "0.000501133" "00000" "PITPNM3_000037" "g.6373665G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PITPNM3:NM_031220 c.C1688T, p.T563M" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.6470345G>A" "" "VUS" "ACMG" "0000815468" "0" "50" "17" "6386921" "6386921" "subst" "1.21897E-5" "00000" "PITPNM3_000065" "g.6386921T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PITPNM3:NM_031220 c.A503G, p.H168R" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.6483601T>C" "" "VUS" "ACMG" "0000815481" "0" "50" "17" "6373665" "6373665" "subst" "0.000501133" "00000" "PITPNM3_000037" "g.6373665G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PITPNM3:NM_031220 c.C1688T, p.T563M" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.6470345G>A" "" "VUS" "ACMG" "0000815611" "0" "50" "17" "6373627" "6373627" "subst" "0" "00000" "PITPNM3_000064" "g.6373627C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PITPNM3:NM_031220 c.G1726A, p.A576T" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.6470307C>T" "" "VUS" "ACMG" "0000820321" "1" "70" "17" "6373693" "6373696" "dup" "0" "00000" "PITPNM3_000066" "g.6373693_6373696dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PITPNM3, variant 1: c.1657_1660dup/p.Y554*" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.6470373_6470376dup" "" "likely pathogenic" "" "0000855065" "0" "30" "17" "6387538" "6387538" "subst" "2.43789E-5" "01943" "PITPNM3_000069" "g.6387538C>T" "" "" "" "PITPNM3(NM_031220.3):c.349G>A (p.E117K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865464" "0" "30" "17" "6374512" "6374512" "subst" "0" "02330" "PITPNM3_000067" "g.6374512C>T" "" "" "" "PITPNM3(NM_031220.4):c.1593G>A (p.S531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865465" "0" "30" "17" "6380542" "6380542" "subst" "1.21994E-5" "01943" "PITPNM3_000068" "g.6380542C>T" "" "" "" "PITPNM3(NM_031220.3):c.901-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865466" "0" "30" "17" "6387600" "6387600" "subst" "0.000377714" "02330" "PITPNM3_000030" "g.6387600C>T" "" "" "" "PITPNM3(NM_031220.3):c.287G>A (p.R96Q), PITPNM3(NM_031220.4):c.287G>A (p.R96Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894209" "0" "30" "17" "6374521" "6374521" "subst" "3.67347E-5" "02330" "PITPNM3_000070" "g.6374521C>T" "" "" "" "PITPNM3(NM_031220.4):c.1584G>A (p.S528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894210" "0" "30" "17" "6380418" "6380418" "subst" "0.000345503" "02330" "PITPNM3_000071" "g.6380418G>C" "" "" "" "PITPNM3(NM_031220.4):c.1016C>G (p.P339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914954" "0" "30" "17" "6364828" "6364828" "subst" "0.000657863" "02330" "PITPNM3_000007" "g.6364828C>T" "" "" "" "PITPNM3(NM_031220.3):c.2355G>A (p.P785=), PITPNM3(NM_031220.4):c.2355G>A (p.P785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914955" "0" "30" "17" "6377831" "6377831" "subst" "9.4369E-5" "02330" "PITPNM3_000072" "g.6377831A>G" "" "" "" "PITPNM3(NM_031220.4):c.1179T>C (p.D393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958461" "1" "50" "17" "6386897" "6386897" "subst" "0" "00006" "PITPNM3_000074" "g.6386897A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.6483577A>G" "" "VUS" "ACMG" "0000958845" "0" "50" "17" "6459711" "6459711" "subst" "0" "00006" "PITPNM3_000040" "g.6459711G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.6556391G>A" "" "VUS" "ACMG" "0000959067" "0" "50" "17" "6355316" "6355316" "subst" "0" "00006" "PITPNM3_000073" "g.6355316G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP7; no variant 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "g.6451996G>A" "" "VUS" "ACMG" "0000959360" "0" "50" "17" "6428726" "6428726" "subst" "2.03052E-5" "00006" "PITPNM3_000075" "g.6428726T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.6525406T>C" "" "VUS" "ACMG" "0000969185" "0" "30" "17" "6377885" "6377885" "subst" "0.000251479" "02330" "PITPNM3_000076" "g.6377885C>T" "" "" "" "PITPNM3(NM_031220.4):c.1125G>A (p.P375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969186" "0" "30" "17" "6428686" "6428686" "subst" "0.00102742" "02330" "PITPNM3_000017" "g.6428686G>A" "" "" "" "PITPNM3(NM_031220.3):c.216C>T (p.D72=), PITPNM3(NM_031220.4):c.216C>T (p.D72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982726" "0" "50" "17" "6361023" "6361023" "subst" "0" "01804" "PITPNM3_000077" "g.6361023G>A" "" "" "" "PITPNM3(NM_031220.4):c.2510C>T (p.(Ala837Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003588" "0" "30" "17" "6377871" "6377871" "subst" "2.26955E-5" "01804" "PITPNM3_000078" "g.6377871G>A" "" "" "" "PITPNM3(NM_031220.3):c.1139C>T (p.(Pro380Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015605" "0" "30" "17" "6364889" "6364889" "del" "0.000438971" "02330" "PITPNM3_000079" "g.6364889del" "" "" "" "PITPNM3(NM_031220.4):c.2307-13delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015606" "0" "30" "17" "6387548" "6387548" "subst" "9.34321E-5" "02330" "PITPNM3_000080" "g.6387548G>A" "" "" "" "PITPNM3(NM_031220.4):c.339C>T (p.H113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027042" "0" "30" "17" "6381316" "6381316" "subst" "4.88906E-5" "02330" "PITPNM3_000081" "g.6381316C>T" "" "" "" "PITPNM3(NM_031220.4):c.879G>A (p.K293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027043" "0" "30" "17" "6381357" "6381357" "subst" "0.00105956" "02330" "PITPNM3_000082" "g.6381357C>T" "" "" "" "PITPNM3(NM_031220.4):c.838G>A (p.A280T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PITPNM3 ## Count = 146 "{{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}}" "0000091168" "00016220" "50" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Thr633Met)" "15" "0000091169" "00016220" "50" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Thr633Met)" "15" "0000248700" "00016220" "10" "2430" "0" "2430" "0" "c.2430T>C" "r.(?)" "p.(Asp810=)" "" "0000276603" "00016220" "50" "8865" "0" "8865" "0" "c.*5940G>A" "r.(=)" "p.(=)" "" "0000293773" "00016220" "10" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Cys436=)" "" "0000293774" "00016220" "10" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Arg513His)" "" "0000293775" "00016220" "30" "22" "15" "22" "15" "c.22+15G>C" "r.(=)" "p.(=)" "" "0000293776" "00016220" "10" "2563" "0" "2563" "0" "c.2563G>C" "r.(?)" "p.(Ala855Pro)" "" "0000293779" "00016220" "30" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Lys249=)" "" "0000296983" "00016220" "10" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Ala80Thr)" "" "0000305689" "00016220" "30" "1085" "8" "1085" "8" "c.1085+8del" "r.(=)" "p.(=)" "" "0000305690" "00016220" "50" "2114" "0" "2114" "0" "c.2114G>T" "r.(?)" "p.(Arg705Leu)" "" "0000305691" "00016220" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Asp72=)" "" "0000305692" "00016220" "30" "2355" "0" "2355" "0" "c.2355G>A" "r.(?)" "p.(Pro785=)" "" "0000305693" "00016220" "30" "2472" "0" "2472" "0" "c.2472G>A" "r.(?)" "p.(Leu824=)" "" "0000305694" "00016220" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ile110=)" "" "0000305695" "00016220" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Gly14=)" "" "0000305696" "00016220" "30" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Ser192=)" "" "0000305697" "00016220" "30" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21Gln)" "" "0000305698" "00016220" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Val233=)" "" "0000349586" "00016220" "50" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Thr633Met)" "" "0000562804" "00016220" "30" "7853" "0" "7853" "0" "c.*4928A>G" "r.(=)" "p.(=)" "" "0000562811" "00016220" "30" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Arg900=)" "" "0000562812" "00016220" "10" "2620" "-17" "2620" "-16" "c.2620-17_2620-16insGCACT" "r.(=)" "p.(=)" "" "0000562813" "00016220" "10" "2620" "-14" "2620" "-5" "c.2620-14_2620-5dup" "r.spl?" "p.?" "" "0000562814" "00016220" "10" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(Ala749=)" "" "0000562815" "00016220" "30" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(Ala749=)" "" "0000562816" "00016220" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000562817" "00016220" "30" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000562818" "00016220" "30" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000562819" "00016220" "30" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000562820" "00016220" "30" "1599" "0" "1599" "0" "c.1599C>T" "r.(?)" "p.(Ser533=)" "" "0000562821" "00016220" "10" "1512" "0" "1512" "0" "c.1512G>A" "r.(?)" "p.(Ser504=)" "" "0000562822" "00016220" "50" "1057" "0" "1057" "0" "c.1057A>G" "r.(?)" "p.(Ile353Val)" "" "0000562823" "00016220" "10" "849" "0" "849" "0" "c.849A>G" "r.(?)" "p.(Ser283=)" "" "0000562824" "00016220" "30" "849" "0" "849" "0" "c.849A>G" "r.(?)" "p.(Ser283=)" "" "0000562825" "00016220" "50" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Ala234Thr)" "" "0000562826" "00016220" "30" "351" "15" "351" "15" "c.351+15G>A" "r.(=)" "p.(=)" "" "0000562827" "00016220" "50" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Gln)" "" "0000562828" "00016220" "10" "226" "9" "226" "9" "c.226+9C>G" "r.(=)" "p.(=)" "" "0000616768" "00016220" "30" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(Val561=)" "" "0000616769" "00016220" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ile110=)" "" "0000616770" "00016220" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Thr67=)" "" "0000623742" "00016220" "50" "2157" "-12" "2157" "-8" "c.2157-12_2157-8del" "r.(=)" "p.(=)" "" "0000623743" "00016220" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Ala376=)" "" "0000623744" "00016220" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Leu329=)" "" "0000649679" "00016220" "50" "1688" "0" "1688" "0" "c.1688C>T" "r.(?)" "p.(Thr563Met)" "" "0000692440" "00016220" "30" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Thr567=)" "" "0000692441" "00016220" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Ala376=)" "" "0000692442" "00016220" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Leu329=)" "" "0000692443" "00016220" "50" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "" "0000692444" "00016220" "30" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000708337" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708338" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708339" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708340" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708341" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708342" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708343" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708344" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708345" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708346" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708500" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708501" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708502" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708503" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708504" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708505" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708506" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708507" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708526" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708527" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708528" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708529" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708530" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708531" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708532" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708533" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708534" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708535" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708536" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708537" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708696" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708697" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708698" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708699" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708700" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "14" "0000708704" "00016220" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92*)" "" "0000711852" "00016220" "90" "2579" "0" "2579" "0" "c.2579T>C" "r.(?)" "p.(Ile860Thr)" "" "0000712786" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000712787" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000712788" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000712789" "00016220" "90" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(Gln342Pro)" "" "0000712790" "00016220" "50" "901" "-45" "901" "-45" "c.901-45G>A" "r.(?)" "p.(=)" "" "0000712791" "00016220" "50" "900" "60" "900" "60" "c.900+60C>T" "r.(?)" "p.(=)" "" "0000726625" "00016220" "50" "2894" "0" "2894" "0" "c.2894G>A" "r.(?)" "p.(Arg965His)" "" "0000726626" "00016220" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Ile263=)" "" "0000732456" "00016220" "50" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Tyr557=)" "" "0000735190" "00016220" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Ser159=)" "" "0000759976" "00016220" "50" "1656" "0" "1656" "0" "c.1656C>G" "r.(?)" "p.(Ile552Met)" "" "0000760606" "00016220" "50" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000786363" "00016220" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000787651" "00016220" "70" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Gly745Arg)" "" "0000788392" "00016220" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Ala80Val)" "4" "0000788472" "00016220" "50" "1601" "0" "1601" "0" "c.1601T>A" "r.(?)" "p.(Met534Lys)" "12" "0000788524" "00016220" "50" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Ser)" "5" "0000791916" "00016220" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "16" "0000794064" "00016220" "70" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(His19Tyr)" "" "0000796179" "00016220" "70" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Thr633Met)" "15" "0000796180" "00016220" "70" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Thr633Met)" "15" "0000797008" "00016220" "50" "1395" "0" "1395" "0" "c.1395G>C" "r.(?)" "p.(Arg465Ser)" "11" "0000798044" "00016220" "50" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000798045" "00016220" "50" "1688" "0" "1688" "0" "c.1688C>T" "r.(?)" "p.(Thr563Met)" "" "0000798046" "00016220" "50" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Gln626His)" "" "0000808220" "00016220" "10" "2619" "17" "2619" "28" "c.2619+17_2619+28del" "r.(=)" "p.(=)" "" "0000808221" "00016220" "30" "2307" "-6" "2307" "-6" "c.2307-6C>T" "r.(=)" "p.(=)" "" "0000808222" "00016220" "10" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Trp)" "" "0000808223" "00016220" "30" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Ala305Val)" "" "0000808224" "00016220" "10" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0000808225" "00016220" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Ile112Val)" "" "0000814284" "00016220" "70" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Tyr229*)" "6" "0000815366" "00016220" "50" "1688" "0" "1688" "0" "c.1688C>T" "r.(?)" "p.(Thr563Met)" "" "0000815468" "00016220" "50" "503" "0" "503" "0" "c.503A>G" "r.(?)" "p.(His168Arg)" "" "0000815481" "00016220" "50" "1688" "0" "1688" "0" "c.1688C>T" "r.(?)" "p.(Thr563Met)" "" "0000815611" "00016220" "50" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Ala576Thr)" "" "0000820321" "00016220" "70" "1657" "0" "1660" "0" "c.1657_1660dup" "r.(?)" "p.(Tyr554*)" "" "0000855065" "00016220" "30" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Glu117Lys)" "" "0000865464" "00016220" "30" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Ser531=)" "" "0000865465" "00016220" "30" "901" "-9" "901" "-9" "c.901-9G>A" "r.(=)" "p.(=)" "" "0000865466" "00016220" "30" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Gln)" "" "0000894209" "00016220" "30" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Ser528=)" "" "0000894210" "00016220" "30" "1016" "0" "1016" "0" "c.1016C>G" "r.(?)" "p.(Pro339Arg)" "" "0000914954" "00016220" "30" "2355" "0" "2355" "0" "c.2355G>A" "r.(?)" "p.(Pro785=)" "" "0000914955" "00016220" "30" "1179" "0" "1179" "0" "c.1179T>C" "r.(?)" "p.(Asp393=)" "" "0000958461" "00016220" "50" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Ile176Thr)" "" "0000958845" "00016220" "50" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000959067" "00016220" "50" "6267" "0" "6267" "0" "c.*3342C>T" "r.?" "p.?" "" "0000959360" "00016220" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asn59Ser)" "" "0000969185" "00016220" "30" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(=)" "" "0000969186" "00016220" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Asp72=)" "" "0000982726" "00016220" "50" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Ala837Val)" "" "0001003588" "00016220" "30" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Pro380Leu)" "" "0001015605" "00016220" "30" "2307" "-13" "2307" "-13" "c.2307-13del" "r.(=)" "p.(=)" "" "0001015606" "00016220" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(=)" "" "0001027042" "00016220" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(=)" "" "0001027043" "00016220" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Ala280Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{variantid}}" "0000060195" "0000091168" "0000060196" "0000091169" "0000100502" "0000735190" "0000292990" "0000649679" "0000325347" "0000708337" "0000325348" "0000708338" "0000325349" "0000708339" "0000325350" "0000708340" "0000325351" "0000708341" "0000325352" "0000708342" "0000325353" "0000708343" "0000325354" "0000708344" "0000325355" "0000708345" "0000325356" "0000708346" "0000325490" "0000708500" "0000325491" "0000708501" "0000325492" "0000708502" "0000325493" "0000708503" "0000325494" "0000708504" "0000325495" "0000708505" "0000325496" "0000708506" "0000325497" "0000708507" "0000325516" "0000708526" "0000325517" "0000708527" "0000325518" "0000708528" "0000325519" "0000708529" "0000325520" "0000708530" "0000325521" "0000708531" "0000325522" "0000708532" "0000325523" "0000708533" "0000325524" "0000708534" "0000325525" "0000708535" "0000325526" "0000708536" "0000325527" "0000708537" "0000325577" "0000708696" "0000325578" "0000708697" "0000325579" "0000708698" "0000325580" "0000708699" "0000325581" "0000708700" "0000325582" "0000708704" "0000328019" "0000711852" "0000328756" "0000712786" "0000328757" "0000712787" "0000328758" "0000712788" "0000328759" "0000712789" "0000328760" "0000712790" "0000328761" "0000712791" "0000334578" "0000732456" "0000360185" "0000759976" "0000360574" "0000760606" "0000375096" "0000786363" "0000376118" "0000787651" "0000376612" "0000788392" "0000376625" "0000788472" "0000376632" "0000788524" "0000378926" "0000791916" "0000380851" "0000794064" "0000382388" "0000796179" "0000382389" "0000796180" "0000383024" "0000797008" "0000383789" "0000798044" "0000383790" "0000798045" "0000383791" "0000798046" "0000386646" "0000814284" "0000387427" "0000815468" "0000387451" "0000815481" "0000387457" "0000815611" "0000387482" "0000815366" "0000390976" "0000820321" "0000448588" "0000958461" "0000449078" "0000958845" "0000449154" "0000959360" "0000449300" "0000959067"