### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IMPG1) # 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}}" "IMPG1" "interphotoreceptor matrix proteoglycan 1" "6" "q14.2-q15" "unknown" "NG_041812.1" "UD_132465143734" "" "https://www.LOVD.nl/IMPG1" "" "1" "6055" "3617" "602870" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IMPG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-18 13:42:42" "00000" "2023-04-16 21:50:28" ## 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}}" "00010021" "IMPG1" "interphotoreceptor matrix proteoglycan 1" "001" "NM_001563.2" "" "NP_001554.2" "" "" "" "-130" "3138" "2394" "76782335" "76631062" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "2016-10-22 17:54:40" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "01680" "BCD" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "AR" "210370" "eyes" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04518" "VMD4" "dystrophy, macular, vitelliform, type 4 (VMD-4)" "AD" "616151" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "06963" "RP91" "retinitis pigmentosa, type 91" "AD" "153870" "" "" "" "00006" "2022-09-18 13:43:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "IMPG1" "00112" "IMPG1" "01424" "IMPG1" "04518" "IMPG1" "06963" ## Individuals ## Do not remove or alter this header ## ## Count = 95 "{{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}}" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000101" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00050621" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00309812" "" "" "" "8" "" "00006" "{PMID:Meunier 2014:25085631}" "5-generation family, 8 affected (4F, 4M)" "F;M" "" "France" "" "0" "" "" "" "Fam1" "00309813" "" "" "" "2" "" "00006" "{PMID:Meunier 2014:25085631}" "3-generation family, 2 affected (2M)" "M" "" "France" "" "0" "" "" "" "Fam2" "00309814" "" "" "" "1" "" "00006" "{PMID:Meunier 2014:25085631}" "2-generation family, 1 affected" "F" "" "France" "" "0" "" "" "" "Fam3" "00309826" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "2-generation family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "Fam13–501" "00309827" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "2-generation family, 1 affected" "M" "yes" "Turkey" "" "0" "" "" "" "Fam11–151" "00328318" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000247" "00358785" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "family" "M" "" "United States" "" "0" "" "" "Hispanic" "BLM066" "00362007" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat10AB" "00363385" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM883" "00372641" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP021" "00372669" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP281" "00372675" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP298" "00372736" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP224" "00373485" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP0251" "00375423" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#016" "00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021" "00375429" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#023" "00375434" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#029" "00377738" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377739" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377740" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377741" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377742" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377743" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377744" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377745" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377746" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00377747" "" "" "" "1" "" "00000" "{PMID:Abdel Aziz 2005:16354621}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00378054" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SB_0032" "00380099" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "M" "" "" "" "0" "" "" "" "?" "00380100" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380101" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380102" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00381969" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "9" "00384062" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2038" "00386197" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-315" "00386255" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-536" "00386277" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-68, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-173" "00386843" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI677_001360" "00388927" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 75, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "211" "00389544" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 339, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "828" "00389546" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 342, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "830" "00390284" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009838" "00390285" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000247" "00395851" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F236" "00409498" "" "" "" "1" "" "00000" "{PMID:Lockhart 2018:28698241}" "" "F" "" "" "" "0" "" "" "" "?" "00411617" "" "" "" "1" "" "00000" "{PMID:Greenberg 2003:14566652}" "South African family, proband" "M" "yes" "South Africa" "" "0" "" "" "" "?" "00414780" "" "" "" "11" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "3-generation family, 11 affected (7F, 4M)" "F" "" "Netherlands" "" "0" "" "" "" "FamPatII2" "00414781" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "F" "" "Netherlands" "" "0" "" "" "" "FamPatII4" "00414782" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "F" "" "Netherlands" "" "0" "" "" "" "FamPatII7" "00414783" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "M" "" "Netherlands" "" "0" "" "" "" "FamPatII9" "00414784" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "F" "" "Netherlands" "" "0" "" "" "" "FamPatII2" "00414785" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "M" "" "Netherlands" "" "0" "" "" "" "FamPatII3" "00414786" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "F" "" "Netherlands" "" "0" "" "" "" "FamPatII5" "00414787" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}" "" "M" "" "Netherlands" "" "0" "" "" "" "FamPatII6" "00414788" "" "" "00414780" "1" "" "00000" "{PMID:van Lith Verhoeven 2004:14691150}, {PMID:Olivier 2021:32817297}" "" "F" "" "Netherlands" "" "0" "" "" "" "FamPatIV1;FamLPatIV1" "00414813" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "MTP327_IV:2" "00414814" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "MTP327_IV:4" "00414815" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "MTP327_IV:6" "00414816" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "MTP327_V:2" "00414817" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "MTP327_V:3" "00414818" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "MTP327_V:4" "00414819" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "MTP327_V:5" "00414820" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "MTP327_V:6" "00414821" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "MTP1290_III:1" "00414822" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "MTP1290_III:4" "00414823" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "MTP1290_III:5" "00414824" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "MD0531_II:3" "00414825" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "Spain" "" "0" "" "" "Spanish" "MD0531_III:1" "00414826" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "Spain" "" "0" "" "" "Spanish" "MD0531_III:5" "00414827" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "MD0531_III:8" "00414828" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities" "M" "yes" "Italy" "" "0" "" "" "Italian" "NA1863_II:1" "00414829" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities" "F" "yes" "Italy" "" "0" "" "" "Italian" "NA1863_II:2" "00414830" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "NAL69_II:2" "00414831" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "M" "" "France" "" "0" "" "" "French" "NAL69_II:4" "00414832" "" "" "" "1" "" "00000" "{PMID:Manes 2013:23993198}" "" "F" "" "France" "" "0" "" "" "French" "NAX1_II:2" "00414833" "" "" "" "1" "" "00000" "{PMID:Gonzalez Gomez 2019:30589393}" "" "" "" "" "" "0" "" "" "" "?" "00414840" "" "" "" "1" "" "00000" "{PMID:Gupta 2019:30688845}" "proband" "F" "" "" "" "0" "" "" "" "?" "00414841" "" "" "" "1" "" "00000" "{PMID:Gupta 2019:30688845}" "proband\'s father" "M" "" "" "" "0" "" "" "" "?" "00417496" "" "" "" "12" "" "00006" "{PMID:Olivier 2021:32817297}" "4-generation family, 12 affected (8F, 4M)" "F;M" "" "France" "" "0" "" "" "" "FamA" "00417497" "" "" "" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "2-generation family, 1 affected, unaffected carrier mother and 2 sisters" "F" "" "France" "" "0" "" "" "" "FamBPatII2" "00417498" "" "" "" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "2 generation family, 1 affected, unaffected carrier mother" "F" "" "Spain" "" "0" "" "" "" "FamCPatII1" "00417499" "" "" "" "2" "" "00006" "{PMID:Olivier 2021:32817297}" "2 generation family, affected brother/sister, unaffected carrier sister" "F;M" "" "Spain" "" "0" "" "" "" "FamDPatII2/3" "00417500" "" "" "" "3" "" "00006" "{PMID:Olivier 2021:32817297}" "3-generation family, 3 affected (2F, M), unaffected carrier son (40y)" "F;M" "" "France" "" "0" "" "" "" "FamEPatII2/7" "00417501" "" "" "" "2" "" "00006" "{PMID:Olivier 2021:32817297}" "2-generation family, affected mother/daughter" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamFPatI1/II1" "00417502" "" "" "" "2" "" "00006" "{PMID:Olivier 2021:32817297}" "2-generation family, affected mother/daughter" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamGPatI1/II1" "00417503" "" "" "" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "2-generation family, 1 affected, unaffected carrier brother" "M" "" "France" "" "0" "" "" "" "FamHPatII1" "00417504" "" "" "" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "2 generation family, 1 affected" "F" "" "Spain" "" "0" "" "" "" "FamI" "00417505" "" "" "" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "2 generation family, 1 affected" "F" "" "Spain" "" "0" "" "" "" "FamJ" "00417506" "" "" "" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "2-generation family, affected brother/sister" "F;M" "" "Spain" "" "0" "" "" "" "FamKPatII1/3" "00417507" "" "" "00414780" "1" "" "00006" "{PMID:Olivier 2021:32817297}" "" "M" "" "Netherlands" "" "0" "" "" "" "FamLPatIV3" "00420539" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F236" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 94 "{{individualid}}" "{{diseaseid}}" "00000101" "04214" "00050621" "00198" "00309812" "04214" "00309813" "04214" "00309814" "04214" "00309826" "04214" "00309827" "04214" "00328318" "04214" "00358785" "04214" "00362007" "04214" "00363385" "04214" "00372641" "04214" "00372669" "04214" "00372675" "04214" "00372736" "04214" "00373485" "04214" "00375423" "04214" "00375427" "04214" "00375429" "04214" "00375434" "04214" "00377738" "04214" "00377739" "04214" "00377740" "04214" "00377741" "04214" "00377742" "04214" "00377743" "04214" "00377744" "04214" "00377745" "04214" "00377746" "04214" "00377747" "04214" "00378054" "00112" "00380099" "04214" "00380100" "04214" "00380101" "04214" "00380102" "04214" "00381969" "04214" "00384062" "04214" "00386197" "04214" "00386255" "04214" "00386277" "04214" "00386843" "04214" "00388927" "04214" "00389544" "04214" "00389546" "04214" "00390284" "04214" "00390285" "04214" "00395851" "04214" "00409498" "01680" "00411617" "04214" "00414780" "04214" "00414781" "04214" "00414782" "04214" "00414783" "04214" "00414784" "04214" "00414785" "04214" "00414786" "04214" "00414787" "04214" "00414788" "04214" "00414813" "04214" "00414814" "04214" "00414815" "04214" "00414816" "04214" "00414817" "04214" "00414818" "04214" "00414819" "04214" "00414820" "04214" "00414821" "04214" "00414822" "04214" "00414823" "04214" "00414824" "04214" "00414825" "04214" "00414826" "04214" "00414827" "04214" "00414828" "04214" "00414829" "04214" "00414830" "04214" "00414831" "04214" "00414832" "04214" "00414833" "04214" "00414840" "04214" "00414841" "04214" "00417496" "00112" "00417497" "01424" "00417498" "00112" "00417499" "00112" "00417500" "00112" "00417501" "01424" "00417502" "01424" "00417503" "05412" "00417504" "00112" "00417505" "04213" "00417506" "00112" "00417507" "04214" "00420539" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 01424, 01680, 04213, 04214, 04518, 05412, 06963 ## Count = 92 "{{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}}" "0000037233" "00198" "00050621" "00006" "Unknown" "" "global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" "" "0000235125" "04214" "00309812" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235126" "04214" "00309813" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235127" "04214" "00309814" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235140" "04214" "00309826" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235141" "04214" "00309827" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000246545" "04214" "00328318" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000254000" "04214" "00358785" "00000" "Familial, autosomal dominant" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000257400" "04214" "00362007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000258750" "04214" "00363385" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267920" "04214" "00372641" "00000" "Familial, autosomal dominant" "39y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267948" "04214" "00372669" "00000" "Familial, autosomal recessive" "16y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267954" "04214" "00372675" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "28y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268015" "04214" "00372736" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268761" "04214" "00373485" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270637" "04214" "00375423" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270643" "04214" "00375429" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270648" "04214" "00375434" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272884" "04214" "00377738" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272885" "04214" "00377739" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272886" "04214" "00377740" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272887" "04214" "00377741" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272888" "04214" "00377742" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272889" "04214" "00377743" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272890" "04214" "00377744" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272891" "04214" "00377745" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272892" "04214" "00377746" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000272893" "04214" "00377747" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinitis Pigmentosa, RP25 locus" "" "0000273196" "00112" "00378054" "03508" "Familial, autosomal dominant" "" "HP:0032037, HP:0000613, HP:0001133, HP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273953" "04214" "00380099" "00000" "Unknown" "83y" "Multifocal geographic atrophy and some intermediate drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273954" "04214" "00380100" "00000" "Unknown" "75y" "Few intermediate to large soft macular drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273955" "04214" "00380101" "00000" "Unknown" "70y" "Intermediate to large soft macular drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273956" "04214" "00380102" "00000" "Unknown" "87y" "Intermediate to large soft macular drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000275811" "04214" "00381969" "00000" "Familial, autosomal recessive" "23y" "visual acuity : od: 0.1, os: 0.1; fundus: no foveolar reflex, but positive wall reflex, otherwise normal; color vision: impaired; electroretinography: scotopic: normal, photopic: no responses; photophobia: yes; nystagmus : yes; progression: no" "0y" "" "" "" "" "" "" "" "" "oligo-cone trichromacy" "" "0000277847" "04214" "00384062" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000278359" "04214" "00000101" "00000" "Familial, autosomal dominant" "64y" "diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization" "55y" "" "" "" "" "" "" "" "" "Sorsby fundus dystrophy" "" "0000280000" "04214" "00386197" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280058" "04214" "00386255" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280080" "04214" "00386277" "00000" "Familial, autosomal recessive" "45y" "" "" "34y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000280643" "04214" "00386843" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282468" "04214" "00388927" "00000" "Familial, autosomal recessive" "66y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "" "0000283085" "04214" "00389544" "00000" "Familial, autosomal recessive" "34y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283087" "04214" "00389546" "00000" "Familial, autosomal dominant" "75y" "age at genetic diagnosis mentioned" "" "73y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283822" "04214" "00390284" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283823" "04214" "00390285" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000289013" "04214" "00395851" "00000" "Unknown" "53y" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301615" "01680" "00409498" "00000" "Familial, autosomal recessive" "47y" "27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography" "25y" "" "reduced visual acuity in the right eye - 20/50 (0.4 logMAR)" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000303644" "04214" "00411617" "00000" "Familial, autosomal recessive" "68y" "night blindness, sensitivity to bright light, visual field loss, loss of visual acuity" "" "12y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000306573" "04214" "00414780" "00000" "Familial, autosomal dominant" "54y" "44y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.87, 1.91; dark adaptation elevation (10log): 1; 54y: visual acuity right, left eye: 20/40, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.11, 0.97; dark adaptation elevation (10log): 1" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306574" "04214" "00414781" "00000" "Familial, autosomal dominant" "65y" "50y: visual acuity right, left eye: 20/25, 20/20; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.12, 1; dark adaptation elevation (10log): 0.5; 65y: visual acuity right, left eye: 20/30, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 0.98, 0.96; dark adaptation elevation (10log): 1.5" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306575" "04214" "00414782" "00000" "Familial, autosomal dominant" "60y" "45y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.5, 1.7; dark adaptation elevation (10log): 0.5; 60y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.4, 1.3; dark adaptation elevation (10log): 1" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306576" "04214" "00414783" "00000" "Familial, autosomal dominant" "47y" "47y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: normal / normal; electrooculography right / left eye: 0.98, 1.04; dark adaptation elevation (10log): 0.5; 18y: visual acuity right, left eye: 20/60, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): normalP" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306577" "04214" "00414784" "00000" "Familial, autosomal dominant" "43y" "18y: visual acuity right, left eye: 20/60, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): normalP; 28y: visual acuity right, left eye: 20/60, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): 1.5; 43y: visual acuity right, left eye: 20/60, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 1.09, 0.97; dark adaptation elevation (10log): 3" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306578" "04214" "00414785" "00000" "Familial, autosomal dominant" "41y" "16y: visual acuity right, left eye: 20/20, 20/20; electroretinogram, scotopic, right / left eye: normal / normal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 2.14, 2.36; dark adaptation elevation (10log): normal; 26y: visual acuity right, left eye: 20/15, 20/15; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 2, 1.75; dark adaptation elevation (10log): normal; 41y: visual acuity right, left eye: 20/15, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: normal / normal; electrooculography right / left eye: 1.65, 1.38; dark adaptation elevation (10log): normalP" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306579" "04214" "00414786" "00000" "Familial, autosomal dominant" "40y" "24y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.22, 1.27; dark adaptation elevation (10log): 0.5; 40y: visual acuity right, left eye: 20/20, 20/15; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 0.89, 0.77; dark adaptation elevation (10log): normal" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306580" "04214" "00414787" "00000" "Familial, autosomal dominant" "33y" "33y: visual acuity right, left eye: 20/20, 20/20; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): 1" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306581" "04214" "00414788" "00000" "Familial, autosomal dominant" "17y" "17y: visual acuity right, left eye: 20/15, 20/15; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: normal / normal; electrooculography right / left eye: 1.64, 1.75; dark adaptation elevation (10log): normal" "" "" "" "" "" "" "" "" "concentric annular macular dystrophy" "" "" "0000306612" "04214" "00414813" "00000" "Familial, autosomal dominant" "63y" "best corrected visual acuity right, left eye: 20/200, 20/60; electrooculography Arden ratios right, left eye: 2.49, 2.82; electroretinogram (dim blue light; 30 Hz flickers), right eye: 217, 98, left eye: 208, 97" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306613" "04214" "00414814" "00000" "Familial, autosomal dominant" "63y" "best corrected visual acuity right, left eye: 20/50, 30/50; electrooculography Arden ratios right, left eye: 2.11, 2.27; electroretinogram (dim blue light; 30 Hz flickers), right eye: 132, 67, left eye: 104, 62" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306614" "04214" "00414815" "00000" "Familial, autosomal dominant" "56y" "best corrected visual acuity right, left eye: 20/400, CF; electrooculography Arden ratios right, left eye: 1.25, 1.34; electroretinogram (dim blue light; 30 Hz flickers), right eye: 205, 42, left eye: 227, 49" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306615" "04214" "00414816" "00000" "Familial, autosomal dominant" "36y" "best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: not done; electroretinogram (dim blue light; 30 Hz flickers): not done" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306616" "04214" "00414817" "00000" "Familial, autosomal dominant" "31y" "best corrected visual acuity right, left eye: 20/200, 20/40; electrooculography Arden ratios right, left eye: 2.44, 2.62; electroretinogram (dim blue light; 30 Hz flickers): not done" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306617" "04214" "00414818" "00000" "Familial, autosomal dominant" "28y" "best corrected visual acuity right, left eye: 20/20, 20/25; electrooculography Arden ratios right, left eye: 1.94, 1.95; electroretinogram (dim blue light; 30 Hz flickers): not done" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306618" "04214" "00414819" "00000" "Familial, autosomal dominant" "37y" "best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 1.71, 1.54; electroretinogram (dim blue light; 30 Hz flickers), right eye: 274, 70, left eye: 233, 61" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306619" "04214" "00414820" "00000" "Familial, autosomal dominant" "21y" "best corrected visual acuity right, left eye: 20/60, 20/20; electrooculography Arden ratios right, left eye: 2.20, 2.01; electroretinogram (dim blue light; 30 Hz flickers), right eye: 258, 51, left eye: 243, 48" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306620" "04214" "00414821" "00000" "Familial, autosomal dominant" "65y" "best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306621" "04214" "00414822" "00000" "Familial, autosomal dominant" "64y" "best corrected visual acuity right, left eye: 20/40, 20/30; electrooculography Arden ratios right, left eye: 1.66, 1.73; electroretinogram (dim blue light; 30 Hz flickers), right eye: 333, 83, left eye: 319, 72" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306622" "04214" "00414823" "00000" "Familial, autosomal dominant" "62y" "best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 2.44, 2.14; electroretinogram (dim blue light; 30 Hz flickers), right eye: 292, 61, left eye: 262, 78" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306623" "04214" "00414824" "00000" "Familial, autosomal dominant" "65y" "best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306624" "04214" "00414825" "00000" "Familial, autosomal dominant" "65y" "best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306625" "04214" "00414826" "00000" "Familial, autosomal dominant" "55y" "best corrected visual acuity right, left eye: 20/30, 25/30; electrooculography Arden ratios right, left eye: 2.25, 2.35; electroretinogram (dim blue light; 30 Hz flickers), right eye: 385, 88, left eye: 357, 72" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306626" "04214" "00414827" "00000" "Familial, autosomal dominant" "49y" "best corrected visual acuity right, left eye: 40/200, 20/50; electrooculography Arden ratios right, left eye: 2.31, 2.61; electroretinogram (dim blue light; 30 Hz flickers): not done" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306627" "04214" "00414828" "00000" "Familial, autosomal recessive" "46y" "best corrected visual acuity right, left eye: 20/30, 25/30; electrooculography Arden ratios right, left eye: 1.48, 1.64; electroretinogram (dim blue light; 30 Hz flickers): normal" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306628" "04214" "00414829" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 1.58, 1.68; electroretinogram (dim blue light; 30 Hz flickers): normal" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306629" "04214" "00414830" "00000" "Familial, autosomal recessive" "34y" "best corrected visual acuity right, left eye: 20/22, 20/22; electrooculography Arden ratios right, left eye: 1.53, 1.61; electroretinogram (dim blue light; 30 Hz flickers): decreased scotopic and photopic responses" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306630" "04214" "00414831" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right, left eye: 20/33, 20/20; electrooculography Arden ratios right, left eye: 1.67, 2.41; electroretinogram (dim blue light; 30 Hz flickers): decreased scotopic and photopic responses" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306631" "04214" "00414832" "00000" "Isolated (sporadic)" "40y" "best corrected visual acuity right, left eye: 20/60, 20/40; electrooculography Arden ratios right, left eye: 2.32, 2.55; electroretinogram (dim blue light; 30 Hz flickers), right eye: 121, 75, left eye: 146, 81" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "" "0000306632" "04214" "00414833" "00000" "Isolated (sporadic)" "41y" "gradual bilateral decrease of visual acuity of several months-duration; best corrected visual acuity (BCVA) right, left eye: 1/2, 2/3; intraocular pressure and anterior segment: unremarkable; ophthalmoscopy: bilateral and annular alteration of the retinal pigment epithelium (RPE) surrounding an intact central macula; optic coherence tomography: central and annular atrophy of the RPE, with increased choroidal hyperreflectivity, in the foveal region, generalized decrease of the macular thickness and the ganglion cell layer were also observed; autofluorescence: a central area of normal fluorescence surrounded by a concentric, perifoveal, and hyperautofluorescent area; fluorescein angiography: bull\'s-eye maculopathy. Electrophysiological testing described a nonspecific rod and cone dysfunction; campimetry: bilateral central scotoma affecting the central 5 degrees; subsequent annual reviews - the patient complained about a gradual decrease in the visual acuity, dyschromatopsia, and difficulties for activities th required the use of central vision; 3y after the first visit BCVA: 2/5, 1/2; ophthalmoscopy, optical coherence tomography and autofluorescence tests - mild progression of the atrophy areas; campimetry: bilateral central scotoma affecting the central 10 degrees, a poor progression of the disease; progressive worsening of symptoms over the 3 years of followup due to the maculopathy, as no other secondary complications were detected on subsequent review" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy" "" "" "0000306639" "04214" "00414840" "00000" "Familial, autosomal dominant" "25y" "best corrected visual acuity right, left eye: 20/20, 20/40-3; Amsler testing: central scotoma in the left eye on; fundus: left eye a small round yellow foveal lesion; optical coherence tomography: disorganization and decreased reflectance of the foveal ellipsoid zone (EZ) and interdigitation zone (IZ), along with a small subretinal lucency; right eye - a much smaller foveal yellow spot with a corresponding smaller foveal area of disorganization and decreased reflectance of the EZ and IZ; fluorescein angiography and indocyanine green angiography: normal; short wavelength fundus autofluorescence: normal findings in the right eye and a subtle central area of increased autofluorescence in the left eye; multifocal electroretinogram: a small reduction in the central retinal response peak of the left eye; interocular difference in central response peaks statistically significant (P , 0.01); absolute amplitude of the central response peak in the left eye smaller than the surrounding hexagons, not seen in normal eyes; electrooculogram: not performed; causes of yellow foveal spots and/or outer retinal disruption such as solar retinopathy, laser pointer–induced maculopathy, alkyl nitrate abuse, tamoxifen retinopathy, achromatopsia, and cone dystrophy were ruled out by context, clinical examination, and multimodal imagi" "" "" "central scotoma of the left eye" "" "" "" "" "" "adult-onset foveomacular vitelliform dystrophy" "" "" "0000306640" "04214" "00414841" "00000" "Familial, autosomal dominant" "" "review of the imaging confirmed thickened choroid with pachyvessels in the right eye more than in the left eye, with retinal pigment epithelial abnormalities and subretinal fluid in the right eye consistent with central serous chorioretinopathy" "" "" "" "" "" "" "" "" "central serous chorioretinopathy" "" "" "0000308978" "00112" "00417496" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "RP91" "retinitis pigmentosa" "" "0000308979" "01424" "00417497" "00006" "Unknown" "47y" "see paper" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000308980" "00112" "00417498" "00006" "Unknown" "48y" "see paper; ..., moderate retinitis pigmentosa; fundus typical appearance of bone spicules mid-peripheral retina,slightly attenuated retinal vessels" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000308981" "00112" "00417499" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "RP91" "retinitis pigmentosa" "" "0000308982" "00112" "00417500" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "RP91" "retinitis pigmentosa" "" "0000308983" "01424" "00417501" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000308984" "01424" "00417502" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000308985" "05412" "00417503" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000308986" "04213" "00417505" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000308987" "00112" "00417506" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "RP91" "retinitis pigmentosa" "" "0000311787" "04214" "00420539" "00000" "Familial, autosomal dominant" "53y" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 95 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000041" "00000041" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000101" "00000101" "1" "00004" "" "2012-05-11 13:19:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050566" "00050621" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000310957" "00309812" "1" "00006" "00006" "2020-09-03 19:11:21" "" "" "SEQ" "DNA" "" "" "0000310958" "00309813" "1" "00006" "00006" "2020-09-03 19:11:21" "" "" "SEQ" "DNA" "" "" "0000310959" "00309814" "1" "00006" "00006" "2020-09-03 19:11:21" "" "" "SEQ" "DNA" "" "" "0000310971" "00309826" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310972" "00309827" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000329533" "00328318" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000360015" "00358785" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000363235" "00362007" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364613" "00363385" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373873" "00372641" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373901" "00372669" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373907" "00372675" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373968" "00372736" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374720" "00373485" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000376620" "00375423" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376626" "00375429" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376631" "00375434" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378942" "00377738" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378943" "00377739" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378944" "00377740" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378945" "00377741" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378946" "00377742" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378947" "00377743" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378948" "00377744" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378949" "00377745" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378950" "00377746" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000378951" "00377747" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA" "" "" "0000379253" "00378054" "1" "03508" "03508" "2021-08-04 04:05:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000381300" "00380099" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381301" "00380100" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381302" "00380101" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381303" "00380102" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000383185" "00381969" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000385287" "00384062" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000387426" "00386197" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387484" "00386255" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387506" "00386277" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388071" "00386843" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000390170" "00388927" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390787" "00389544" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390789" "00389546" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391525" "00390284" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391526" "00390285" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000397090" "00395851" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000410762" "00409498" "1" "00000" "03840" "2022-05-09 15:31:45" "" "" "SEQ" "DNA" "blood" "" "0000412889" "00411617" "1" "00000" "03840" "2022-06-17 17:08:24" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" "0000416061" "00414780" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416062" "00414781" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416063" "00414782" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416064" "00414783" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416065" "00414784" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416066" "00414785" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416067" "00414786" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "ARMS" "DNA;RNA" "blood" "" "0000416068" "00414787" "1" "00000" "03840" "2022-08-03 20:03:04" "" "" "SEQ;ARMS" "DNA;RNA" "blood" "" "0000416069" "00414788" "1" "00000" "03840" "2022-08-03 20:03:04" "00006" "2022-09-18 15:51:35" "ARMS;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000416094" "00414813" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416095" "00414814" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416096" "00414815" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416097" "00414816" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416098" "00414817" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416099" "00414818" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416100" "00414819" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416101" "00414820" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416102" "00414821" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416103" "00414822" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416104" "00414823" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416105" "00414824" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416106" "00414825" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416107" "00414826" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416108" "00414827" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ-NG;SEQ" "DNA" "blood" "" "0000416109" "00414828" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000416110" "00414829" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000416111" "00414830" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000416112" "00414831" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000416113" "00414832" "1" "00000" "03840" "2022-08-05 11:08:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000416114" "00414833" "1" "00000" "03840" "2022-08-05 11:36:13" "" "" "SEQ" "DNA" "blood" "" "0000416121" "00414840" "1" "00000" "03840" "2022-08-05 12:52:43" "" "" "SEQ" "DNA" "blood" "" "0000416122" "00414841" "1" "00000" "03840" "2022-08-05 12:52:43" "" "" "SEQ" "DNA" "blood" "" "0000418789" "00417496" "1" "00006" "00006" "2022-09-18 14:47:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418790" "00417497" "1" "00006" "00006" "2022-09-18 15:04:33" "" "" "SEQ" "DNA" "" "" "0000418791" "00417498" "1" "00006" "00006" "2022-09-18 15:09:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000418792" "00417499" "1" "00006" "00006" "2022-09-18 15:14:30" "" "" "SEQ" "DNA" "" "" "0000418793" "00417500" "1" "00006" "00006" "2022-09-18 15:19:34" "" "" "SEQ" "DNA" "" "" "0000418794" "00417501" "1" "00006" "00006" "2022-09-18 15:22:56" "" "" "SEQ" "DNA" "" "" "0000418795" "00417502" "1" "00006" "00006" "2022-09-18 15:22:56" "" "" "SEQ" "DNA" "" "" "0000418796" "00417503" "1" "00006" "00006" "2022-09-18 15:28:56" "" "" "SEQ" "DNA" "" "" "0000418797" "00417504" "1" "00006" "00006" "2022-09-18 15:31:05" "" "" "SEQ" "DNA" "" "" "0000418798" "00417505" "1" "00006" "00006" "2022-09-18 15:35:17" "" "" "SEQ" "DNA" "" "" "0000418799" "00417506" "1" "00006" "00006" "2022-09-18 15:38:31" "" "" "SEQ" "DNA" "" "" "0000418800" "00417507" "1" "00006" "00006" "2022-09-18 15:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421848" "00420539" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 92 "{{screeningid}}" "{{geneid}}" "0000000041" "ATP7A" "0000000041" "ATP7B" "0000000041" "DPYD" "0000000041" "ETFB" "0000000041" "IGHMBP2" "0000000041" "MPL" "0000000041" "MYO5A" "0000000041" "NHLRC1" "0000000041" "NPHP4" "0000000041" "NPHS1" "0000000041" "PLP1" "0000000041" "SERPINA1" "0000000101" "ATP7B" "0000000101" "ETFB" "0000000101" "GLB1" "0000000101" "NPHS1" "0000000101" "SERPINA1" "0000310957" "IMPG1" "0000310958" "IMPG1" "0000310959" "IMPG1" "0000310971" "IMPG1" "0000310972" "IMPG1" "0000329533" "IMPG1" "0000360015" "IMPG1" "0000364613" "IMPG1" "0000374720" "IMPG1" "0000378942" "IMPG1" "0000378943" "IMPG1" "0000378944" "IMPG1" "0000378945" "IMPG1" "0000378946" "IMPG1" "0000378947" "IMPG1" "0000378948" "IMPG1" "0000378949" "IMPG1" "0000378950" "IMPG1" "0000378951" "IMPG1" "0000383185" "CNGA3" "0000385287" "IMPG1" "0000387426" "GNAT2" "0000387484" "ABCA4" "0000387506" "USH2A" "0000388071" "IMPG1" "0000390170" "IMPG1" "0000390787" "IMPG1" "0000390789" "IMPG1" "0000391525" "IMPG1" "0000391526" "IMPG1" "0000397090" "IMPG1" "0000410762" "CYP4V2" "0000412889" "RHO" "0000416061" "IMPG1" "0000416062" "IMPG1" "0000416063" "IMPG1" "0000416064" "IMPG1" "0000416065" "IMPG1" "0000416066" "IMPG1" "0000416067" "IMPG1" "0000416068" "IMPG1" "0000416069" "IMPG1" "0000416094" "IMPG1" "0000416095" "IMPG1" "0000416096" "IMPG1" "0000416097" "IMPG1" "0000416098" "IMPG1" "0000416099" "IMPG1" "0000416100" "IMPG1" "0000416101" "IMPG1" "0000416102" "IMPG1" "0000416103" "IMPG1" "0000416104" "IMPG1" "0000416105" "IMPG1" "0000416106" "IMPG1" "0000416107" "IMPG1" "0000416108" "IMPG1" "0000416109" "IMPG1" "0000416110" "IMPG1" "0000416111" "IMPG1" "0000416112" "IMPG1" "0000416113" "IMPG1" "0000416114" "IMPG1" "0000416121" "IMPG1" "0000416122" "IMPG1" "0000418790" "IMPG1" "0000418792" "IMPG1" "0000418793" "IMPG1" "0000418794" "IMPG1" "0000418795" "IMPG1" "0000418796" "IMPG1" "0000418797" "IMPG1" "0000418798" "IMPG1" "0000418799" "IMPG1" "0000421848" "IMPG1" ## 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 = 154 "{{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}}" "0000000101" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43338669G>A" "" "VUS" "" "0000079546" "21" "90" "6" "73709065" "76815249" "del" "0" "00006" "KHDC3L_000005" "g.73709065_76815249del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000246467" "0" "10" "6" "76734933" "76734933" "subst" "0.00145653" "02330" "IMPG1_000006" "g.76734933A>C" "" "" "" "IMPG1(NM_001563.3):c.540T>G (p.G180=), IMPG1(NM_001563.4):c.540T>G (p.G180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76025216A>C" "" "benign" "" "0000246479" "0" "10" "6" "76657145" "76657145" "subst" "0" "02330" "IMPG1_000002" "g.76657145A>C" "" "" "" "IMPG1(NM_001563.3):c.1930T>G (p.S644A), IMPG1(NM_001563.4):c.1930T>G (p.S644A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75947428A>C" "" "benign" "" "0000246509" "0" "10" "6" "76660818" "76660818" "subst" "0.00437977" "02330" "IMPG1_000013" "g.76660818A>C" "" "" "" "IMPG1(NM_001563.4):c.1292-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75951101A>C" "" "benign" "" "0000246511" "0" "10" "6" "76728597" "76728597" "del" "0" "02330" "IMPG1_000017" "g.76728597del" "" "" "" "IMPG1(NM_001563.4):c.667-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76018880del" "" "benign" "" "0000246538" "0" "50" "6" "76720940" "76720940" "subst" "0" "02330" "IMPG1_000003" "g.76720940A>C" "" "" "" "IMPG1(NM_001563.3):c.809T>G (p.M270R), IMPG1(NM_001563.4):c.809T>G (p.M270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76011223A>C" "" "VUS" "" "0000278016" "0" "10" "6" "76751591" "76751591" "subst" "0" "02330" "IMPG1_000019" "g.76751591G>C" "" "" "" "IMPG1(NM_001563.4):c.301+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76041874G>C" "" "benign" "" "0000278017" "0" "10" "6" "76728596" "76728597" "del" "0" "02330" "IMPG1_000005" "g.76728596_76728597del" "" "" "" "IMPG1(NM_001563.4):c.667-10_667-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76018879_76018880del" "" "benign" "" "0000278018" "0" "10" "6" "76728597" "76728597" "dup" "0" "02330" "IMPG1_000018" "g.76728597dup" "" "" "" "IMPG1(NM_001563.3):c.667-9dupT, IMPG1(NM_001563.4):c.667-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76018880dup" "" "benign" "" "0000278020" "0" "50" "6" "76728500" "76728500" "subst" "0.0000162882" "02330" "IMPG1_000015" "g.76728500T>C" "" "" "" "IMPG1(NM_001563.4):c.742A>G (p.K248E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76018783T>C" "" "VUS" "" "0000278021" "0" "10" "6" "76728489" "76728489" "subst" "0.000594724" "02330" "IMPG1_000014" "g.76728489G>A" "" "" "" "IMPG1(NM_001563.3):c.753C>T (p.L251=), IMPG1(NM_001563.4):c.753C>T (p.L251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76018772G>A" "" "benign" "" "0000289620" "0" "30" "6" "76660558" "76660558" "subst" "0.000126199" "01943" "IMPG1_000012" "g.76660558C>T" "" "" "" "IMPG1(NM_001563.3):c.1545G>A (p.M515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950841C>T" "" "likely benign" "" "0000289621" "0" "10" "6" "76751738" "76751738" "subst" "0.00557674" "01943" "IMPG1_000007" "g.76751738C>T" "" "" "" "IMPG1(NM_001563.3):c.173G>A (p.R58K), IMPG1(NM_001563.4):c.173G>A (p.R58K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76042021C>T" "" "benign" "" "0000338737" "0" "10" "6" "76660271" "76660271" "subst" "0.0590171" "02327" "IMPG1_000009" "g.76660271C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950554C>T" "" "benign" "" "0000343285" "0" "10" "6" "76640803" "76640803" "subst" "0.119538" "02327" "IMPG1_000008" "g.76640803G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75931086G>A" "" "benign" "" "0000346494" "0" "10" "6" "76660551" "76660551" "subst" "0.466728" "02327" "IMPG1_000011" "g.76660551G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950834G>C" "" "benign" "" "0000347237" "0" "50" "6" "76660367" "76660367" "subst" "0" "02327" "IMPG1_000010" "g.76660367A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950650A>G" "" "VUS" "" "0000349163" "0" "10" "6" "76633385" "76633385" "subst" "0.191176" "02327" "IMPG1_000001" "g.76633385C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75923668C>T" "" "benign" "" "0000529849" "0" "10" "6" "76657130" "76657130" "subst" "0.00537665" "02330" "IMPG1_000020" "g.76657130G>A" "" "" "" "IMPG1(NM_001563.3):c.1945C>T (p.L649F), IMPG1(NM_001563.4):c.1945C>T (p.L649F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75947413G>A" "" "benign" "" "0000529850" "0" "50" "6" "76657130" "76657130" "subst" "0.00537665" "01943" "IMPG1_000020" "g.76657130G>A" "" "" "" "IMPG1(NM_001563.3):c.1945C>T (p.L649F), IMPG1(NM_001563.4):c.1945C>T (p.L649F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75947413G>A" "" "VUS" "" "0000529851" "0" "30" "6" "76657233" "76657233" "subst" "0.0000570888" "02330" "IMPG1_000021" "g.76657233T>G" "" "" "" "IMPG1(NM_001563.4):c.1842A>C (p.R614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75947516T>G" "" "likely benign" "" "0000529852" "0" "50" "6" "76660757" "76660757" "subst" "0" "02327" "IMPG1_000022" "g.76660757G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75951040G>T" "" "VUS" "" "0000529853" "0" "10" "6" "76713612" "76713612" "subst" "0.0000326635" "02330" "IMPG1_000023" "g.76713612T>C" "" "" "" "IMPG1(NM_001563.4):c.1191A>G (p.T397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76003895T>C" "" "benign" "" "0000529854" "0" "50" "6" "76715070" "76715070" "subst" "0.00000812935" "01943" "IMPG1_000024" "g.76715070T>C" "" "" "" "IMPG1(NM_001563.3):c.1069A>G (p.R357G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76005353T>C" "" "VUS" "" "0000529855" "0" "30" "6" "76717201" "76717201" "subst" "0.000104532" "01943" "IMPG1_000025" "g.76717201C>T" "" "" "" "IMPG1(NM_001563.3):c.883G>A (p.D295N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76007484C>T" "" "likely benign" "" "0000529856" "0" "50" "6" "76720940" "76720940" "subst" "0" "01943" "IMPG1_000003" "g.76720940A>C" "" "" "" "IMPG1(NM_001563.3):c.809T>G (p.M270R), IMPG1(NM_001563.4):c.809T>G (p.M270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76011223A>C" "" "VUS" "" "0000529857" "0" "30" "6" "76728489" "76728489" "subst" "0.000594724" "01943" "IMPG1_000014" "g.76728489G>A" "" "" "" "IMPG1(NM_001563.3):c.753C>T (p.L251=), IMPG1(NM_001563.4):c.753C>T (p.L251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76018772G>A" "" "likely benign" "" "0000529858" "0" "10" "6" "76728585" "76728585" "subst" "0" "02330" "IMPG1_000026" "g.76728585A>T" "" "" "" "IMPG1(NM_001563.4):c.667-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76018868A>T" "" "benign" "" "0000529859" "0" "10" "6" "76728597" "76728597" "dup" "0" "01943" "IMPG1_000018" "g.76728597dup" "" "" "" "IMPG1(NM_001563.3):c.667-9dupT, IMPG1(NM_001563.4):c.667-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76018880dup" "" "benign" "" "0000529860" "0" "90" "6" "76731834" "76731834" "del" "0" "02327" "IMPG1_000027" "g.76731834del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76022117del" "" "pathogenic" "" "0000529861" "0" "10" "6" "76731849" "76731849" "subst" "0.00131314" "02330" "IMPG1_000028" "g.76731849G>A" "" "" "" "IMPG1(NM_001563.4):c.650C>T (p.T217I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76022132G>A" "" "benign" "" "0000529862" "0" "10" "6" "76731854" "76731854" "subst" "0.00467943" "02330" "IMPG1_000029" "g.76731854G>A" "" "" "" "IMPG1(NM_001563.3):c.645C>T (p.N215=), IMPG1(NM_001563.4):c.645C>T (p.N215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76022137G>A" "" "benign" "" "0000529863" "0" "30" "6" "76731854" "76731854" "subst" "0.00467943" "01943" "IMPG1_000029" "g.76731854G>A" "" "" "" "IMPG1(NM_001563.3):c.645C>T (p.N215=), IMPG1(NM_001563.4):c.645C>T (p.N215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76022137G>A" "" "likely benign" "" "0000529864" "0" "10" "6" "76734933" "76734933" "subst" "0.00145653" "01943" "IMPG1_000006" "g.76734933A>C" "" "" "" "IMPG1(NM_001563.3):c.540T>G (p.G180=), IMPG1(NM_001563.4):c.540T>G (p.G180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76025216A>C" "" "benign" "" "0000529865" "0" "10" "6" "76751738" "76751738" "subst" "0.00557674" "02330" "IMPG1_000007" "g.76751738C>T" "" "" "" "IMPG1(NM_001563.3):c.173G>A (p.R58K), IMPG1(NM_001563.4):c.173G>A (p.R58K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76042021C>T" "" "benign" "" "0000610526" "0" "30" "6" "76640695" "76640695" "subst" "0.000418614" "01943" "IMPG1_000030" "g.76640695G>A" "" "" "" "IMPG1(NM_001563.3):c.2218C>T (p.L740F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75930978G>A" "" "likely benign" "" "0000610527" "0" "30" "6" "76660690" "76660690" "subst" "0.00120342" "02330" "IMPG1_000031" "g.76660690G>A" "" "" "" "IMPG1(NM_001563.4):c.1413C>T (p.D471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75950973G>A" "" "likely benign" "" "0000610528" "0" "10" "6" "76660715" "76660715" "subst" "0.00131329" "02330" "IMPG1_000032" "g.76660715C>A" "" "" "" "IMPG1(NM_001563.4):c.1388G>T (p.G463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75950998C>A" "" "benign" "" "0000677892" "0" "50" "6" "76751654" "76751654" "subst" "0" "01943" "IMPG1_000033" "g.76751654A>T" "" "" "" "IMPG1(NM_001563.3):c.257T>A (p.M86K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686101" "1" "90" "6" "76728529" "76728529" "subst" "0" "00006" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Meunier 2014:25085631}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000686102" "1" "90" "6" "76728529" "76728529" "subst" "0" "00006" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Meunier 2014:25085631}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000686103" "21" "90" "6" "76660278" "76660278" "subst" "0.00000424157" "00006" "IMPG1_000036" "g.76660278C>T" "" "{PMID:Meunier 2014:25085631}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686116" "1" "70" "6" "76728529" "76728529" "subst" "0" "00006" "IMPG1_000038" "g.76728529A>G" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.76018812A>G" "" "likely pathogenic (dominant)" "" "0000686117" "3" "90" "6" "76728430" "76728430" "subst" "0" "00006" "IMPG1_000037" "g.76728430C>T" "" "{PMID:Brandl 2017:28644393}" "" "" "effect RNA predicted from expression cloning HEK293 cells minigene construct" "Germline" "" "" "0" "" "" "g.76018713C>T" "" "pathogenic (recessive)" "" "0000689810" "0" "30" "6" "76657235" "76657235" "subst" "0.0000122471" "01943" "IMPG1_000039" "g.76657235G>T" "" "" "" "IMPG1(NM_001563.3):c.1840C>A (p.R614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689811" "0" "30" "6" "76728578" "76728578" "subst" "0" "01943" "IMPG1_000040" "g.76728578G>A" "" "" "" "IMPG1(NM_001563.3):c.667-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000713656" "0" "90" "6" "76713646" "76713646" "subst" "0.0000653424" "00000" "IMPG1_000041" "g.76713646G>T" "" "{PMID:Carss 2017:28041643}" "" "6:76713646G>T ENST00000369950.3:c.1157C>A (Ala386Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000721107" "0" "30" "6" "76657145" "76657145" "subst" "0" "01943" "IMPG1_000002" "g.76657145A>C" "" "" "" "IMPG1(NM_001563.3):c.1930T>G (p.S644A), IMPG1(NM_001563.4):c.1930T>G (p.S644A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721108" "0" "50" "6" "76660457" "76660457" "subst" "0" "01943" "IMPG1_000042" "g.76660457T>C" "" "" "" "IMPG1(NM_001563.3):c.1646A>G (p.D549G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000759657" "0" "50" "6" "76660280" "76660280" "subst" "0" "00000" "IMPG1_000043" "g.76660280A>G" "" "{PMID:Zhang 2016:27596865}" "" "c.T1823C" "" "Germline" "" "" "0" "" "" "g.75950563A>G" "" "VUS" "ACMG" "0000763776" "0" "50" "6" "76640670" "76640670" "subst" "0" "00000" "IMPG1_000044" "g.76640670C>A" "" "{PMID:Duvvari 2016:27007659}" "" "2243C>A" "" "Germline" "" "" "0" "" "" "g.75930953C>A" "" "VUS" "" "0000765478" "1" "70" "6" "76715163" "76715163" "subst" "0.0000406878" "00000" "IMPG1_000045" "g.76715163C>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.76005446C>A" "" "likely pathogenic" "" "0000784604" "0" "50" "6" "76728466" "76728466" "subst" "0" "00000" "IMPG1_000047" "g.76728466T>G" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.76018749T>G" "" "VUS" "" "0000784618" "0" "50" "6" "76728475" "76728475" "subst" "0.0000610854" "00000" "IMPG1_000048" "g.76728475G>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "2/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.76018758G>C" "" "VUS" "" "0000784634" "0" "50" "6" "76744374" "76744374" "subst" "0.0000406524" "00000" "IMPG1_000049" "g.76744374G>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.76034657G>C" "" "VUS" "" "0000784645" "0" "50" "6" "76744381" "76744381" "subst" "0.00000406521" "00000" "IMPG1_000050" "g.76744381T>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.76034664T>C" "" "VUS" "" "0000785543" "0" "30" "6" "76657184" "76657184" "subst" "0.000020325" "00000" "IMPG1_000046" "g.76657184C>T" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.75947467C>T" "" "likely benign" "" "0000788438" "0" "50" "6" "76660583" "76660583" "subst" "0.0000569972" "00000" "IMPG1_000052" "g.76660583C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1520A" "" "Germline" "" "" "0" "" "" "g.75950866C>T" "" "VUS" "" "0000788461" "3" "50" "6" "76657075" "76657075" "subst" "0" "00000" "IMPG1_000051" "g.76657075T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A2000G" "" "Germline" "" "" "0" "" "" "g.75947358T>C" "" "VUS" "" "0000788477" "0" "50" "6" "76728469" "76728469" "subst" "0.0000651774" "00000" "IMPG1_000053" "g.76728469T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A773G" "" "Germline" "" "" "0" "" "" "g.76018752T>C" "" "VUS" "" "0000788511" "0" "50" "6" "76751727" "76751727" "subst" "0.0000121947" "00000" "IMPG1_000054" "g.76751727C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G184A" "" "Germline" "" "rs137915302" "0" "" "" "g.76042010C>T" "" "VUS" "" "0000791932" "0" "10" "6" "76728681" "76751978" "ins" "0" "00000" "IMPG1_000061" "g.76728681_76751978insT" "16.5% (in 100 controls)" "{PMID:Abdel Aziz 2005:16354621}" "" "IVS2-212insA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000791933" "0" "10" "6" "76735065" "76735065" "subst" "0" "00000" "IMPG1_000063" "g.76735065A>G" "" "{PMID:Abdel Aziz 2005:16354621}" "" "IVS4-90T>C" "" "Germline" "" "rs1341568" "0" "" "" "" "" "benign" "" "0000791934" "0" "10" "6" "76734836" "76734836" "subst" "0" "00000" "IMPG1_000062" "g.76734836T>A" "33.3% (in 100 controls)" "{PMID:Abdel Aziz 2005:16354621}" "" "IVS5+75A>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000791935" "0" "10" "6" "76728584" "76728584" "del" "0" "00000" "IMPG1_000060" "g.76728584delA" "50% (in 100 controls)" "{PMID:Abdel Aziz 2005:16354621}" "" "VS6-9delT" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000791936" "0" "10" "6" "76715299" "76715299" "subst" "0.105436" "00000" "IMPG1_000059" "g.76715299G>A" "" "{PMID:Abdel Aziz 2005:16354621}" "" "IVS9-48C>T" "" "Germline" "" "rs17802616" "0" "" "" "" "" "benign" "" "0000791937" "0" "10" "6" "76660421" "76660421" "subst" "0" "00000" "IMPG1_000058" "g.76660421G>C" "" "{PMID:Abdel Aziz 2005:16354621}" "" "c.1682C>G" "" "Germline" "" "rs3734311" "0" "" "" "" "" "benign" "" "0000791938" "0" "10" "6" "76656979" "76656979" "del" "0" "00000" "IMPG1_000057" "g.76656979delT" "" "{PMID:Abdel Aziz 2005:16354621}" "" "IVS14+52delA" "" "Germline" "" "rs3215818" "0" "" "" "" "" "benign" "" "0000791939" "0" "10" "6" "0" "0" "subst" "0" "00000" "IMPG1_000056" "g.?" "" "{PMID:Abdel Aziz 2005:16354621}" "" "c.2240C>T" "" "Germline" "" "rs10943299" "0" "" "" "" "" "benign" "" "0000791940" "0" "10" "6" "0" "0" "subst" "0" "00000" "IMPG1_000056" "g.?" "" "{PMID:Abdel Aziz 2005:16354621}" "" "c.2262G>A" "" "Germline" "" "rs3734313" "0" "" "" "" "" "benign" "" "0000791941" "0" "10" "6" "0" "0" "subst" "0" "00000" "IMPG1_000056" "g.?" "" "{PMID:Abdel Aziz 2005:16354621}" "" "c.2412G>A" "" "Germline" "" "rs3778005" "0" "" "" "" "" "benign" "" "0000792389" "0" "70" "6" "76657179" "76657179" "subst" "0" "03508" "IMPG1_000055" "g.76657179A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794699" "0" "70" "6" "76657093" "76657093" "subst" "0.0000121911" "00000" "IMPG1_000064" "g.76657093C>T" "" "{PMID:Kersten 2018:30215852}" "" "c.1982G>A; p.R661H" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75947376C>T" "" "likely pathogenic" "" "0000794700" "0" "70" "6" "76657130" "76657130" "subst" "0.00537665" "00000" "IMPG1_000020" "g.76657130G>A" "" "{PMID:Kersten 2018:30215852}" "" "c.1945C>T; p.L649F" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75947413G>A" "" "likely pathogenic" "" "0000794701" "0" "70" "6" "76660365" "76660365" "subst" "0.000211738" "00000" "IMPG1_000065" "g.76660365G>A" "" "{PMID:Kersten 2018:30215852}" "" "c.1738C>T; p.R580C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75950648G>A" "" "likely pathogenic" "" "0000794702" "0" "70" "6" "76744471" "76744471" "del" "0" "00000" "IMPG1_000066" "g.76744471del" "" "{PMID:Kersten 2018:30215852}" "" "c.336TC>C; p.I112IX" "uncertain annotation" "Germline/De novo (untested)" "" "" "0" "" "" "g.76034754del" "" "likely pathogenic" "" "0000797251" "0" "90" "6" "76744428" "76744428" "subst" "0.00000813114" "00000" "IMPG1_000067" "g.76744428C>T" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[1777G>A];[=], p.[E593K];[=], IMPG1: c.[378C>T];[=] (wrror in annotation, this protein truncation is caused by 378G>A), p.[W126*];[=]" "" "Germline" "yes" "" "0" "" "" "g.76034711C>T" "" "pathogenic" "" "0000802741" "0" "50" "6" "76633383" "76633383" "subst" "0" "01943" "IMPG1_000068" "g.76633383C>G" "" "" "" "IMPG1(NM_001563.3):c.2284G>C (p.V762L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802742" "0" "50" "6" "76731927" "76731927" "subst" "0.000248553" "01943" "IMPG1_000069" "g.76731927T>C" "" "" "" "IMPG1(NM_001563.3):c.572A>G (p.N191S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000812259" "3" "70" "6" "76657093" "76657093" "subst" "0.0000121911" "00000" "IMPG1_000064" "g.76657093C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "IMPG1 Ex.14 c.1982G>A p.(Arg661His), Ex.14 c.1982G>A p.(Arg661His)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.75947376C>T" "" "likely pathogenic" "" "0000815541" "0" "50" "6" "76660430" "76660430" "subst" "0.0000284958" "00000" "IMPG1_000070" "g.76660430T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPG1:NM_001563 c.A1673G, p.Y558C" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.75950713T>C" "" "VUS" "ACMG" "0000815589" "0" "50" "6" "76657093" "76657093" "subst" "0.0000121911" "00000" "IMPG1_000064" "g.76657093C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPG1:NM_001563 c.G1982A, p.R661H" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.75947376C>T" "" "VUS" "ACMG" "0000815619" "0" "50" "6" "76744490" "76744490" "subst" "0.00000407027" "00000" "IMPG1_000071" "g.76744490C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPG1:NM_001563 c.G316C, p.V106L" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.76034773C>G" "" "VUS" "ACMG" "0000816229" "0" "50" "6" "76657151" "76657151" "subst" "0" "00000" "IMPG1_000072" "g.76657151C>G" "" "{PMID:Zampaglione-2020:32037395}" "" "IMPG1 c.1924G>C, p.Ala642Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.75947434C>G" "" "VUS" "" "0000819515" "1" "70" "6" "76728434" "76728434" "subst" "0" "00000" "IMPG1_000075" "g.76728434C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG1, variant 1: c.807+1G>C/p.?, variant 2: c.807+1G>C/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76018717C>G" "" "likely pathogenic" "" "0000820132" "1" "70" "6" "76712634" "76712634" "subst" "0" "00000" "IMPG1_000073" "g.76712634C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG1, variant 1 : c.1291+1G>T/p.?, variant 2 : c.1291+1G>T/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76002917C>A" "" "likely pathogenic" "" "0000820134" "1" "70" "6" "76744428" "76744428" "subst" "0.00000813114" "00000" "IMPG1_000067" "g.76744428C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG1, variant 1: c.378G>A/p.W126*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.76034711C>T" "" "likely pathogenic" "" "0000821274" "0" "70" "6" "76728433" "76728433" "subst" "0" "00000" "IMPG1_000074" "g.76728433A>T" "" "{PMID:Turro 2020:32581362}" "" "IMPG1 c.807+2T>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76018716A>T" "" "likely pathogenic" "" "0000821275" "0" "70" "6" "76713646" "76713646" "subst" "0.0000653424" "00000" "IMPG1_000041" "g.76713646G>T" "" "{PMID:Turro 2020:32581362}" "" "IMPG1 c.1157C>A, p.Ala386Asp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76003929G>T" "" "likely pathogenic" "" "0000828836" "0" "50" "6" "76715163" "76715163" "subst" "0.0000406878" "00000" "IMPG1_000045" "g.76715163C>A" "" "{PMID:Chen 2021:43360855}" "" "IMPG1 c.[742G>T];[742=], V1: c.742G>T, (p.Asp248Tyr)" "different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); heterozygous" "Unknown" "?" "" "0" "" "" "g.76005446C>A" "" "VUS" "ACMG" "0000860518" "0" "30" "6" "76640787" "76640787" "subst" "0.000154318" "02330" "IMPG1_000076" "g.76640787T>C" "" "" "" "IMPG1(NM_001563.4):c.2126A>G (p.E709G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860519" "0" "30" "6" "76712698" "76712698" "subst" "0.0000813855" "01943" "IMPG1_000077" "g.76712698G>T" "" "" "" "IMPG1(NM_001563.3):c.1228C>A (p.P410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860520" "0" "50" "6" "76715123" "76715123" "subst" "0.000109769" "02330" "IMPG1_000078" "g.76715123G>T" "" "" "" "IMPG1(NM_001563.4):c.1016C>A (p.T339N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860521" "0" "30" "6" "76728471" "76728471" "subst" "0.00000407312" "02330" "IMPG1_000079" "g.76728471T>C" "" "" "" "IMPG1(NM_001563.4):c.771A>G (p.P257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860522" "0" "50" "6" "76734970" "76734970" "subst" "0.0000247398" "02330" "IMPG1_000080" "g.76734970T>C" "" "" "" "IMPG1(NM_001563.4):c.503A>G (p.D168G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860523" "0" "70" "6" "76744385" "76744385" "subst" "0.0000040655" "01943" "IMPG1_000081" "g.76744385C>A" "" "" "" "IMPG1(NM_001563.3):c.421G>T (p.G141*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000874008" "20" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874009" "20" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874010" "20" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874011" "20" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874012" "21" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874013" "21" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874014" "21" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874015" "21" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874016" "21" "70" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:van Lith Verhoeven 2004:14691150}" "" "IMPG1 Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "likely pathogenic" "" "0000874124" "10" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874125" "10" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874126" "10" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874127" "21" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874128" "21" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874129" "21" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874130" "11" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874131" "11" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874132" "10" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874133" "10" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874134" "10" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874135" "20" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874136" "20" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874137" "20" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874138" "11" "70" "6" "76728529" "76728529" "subst" "0" "00000" "IMPG1_000035" "g.76728529A>C" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.713T>G (p.Leu238Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76018812A>C" "" "likely pathogenic" "" "0000874139" "3" "70" "6" "76728434" "76728434" "subst" "0.00000408847" "00000" "IMPG1_000084" "g.76728434C>A" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.807+1G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.76018717C>A" "" "likely pathogenic" "" "0000874140" "3" "70" "6" "76728434" "76728434" "subst" "0.00000408847" "00000" "IMPG1_000084" "g.76728434C>A" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.807+1G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.76018717C>A" "" "likely pathogenic" "" "0000874141" "20" "70" "6" "76744345" "76744345" "subst" "0.0000365848" "00000" "IMPG1_000085" "g.76744345A>G" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.461T>C (p.Leu154Pro)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76034628A>G" "" "likely pathogenic" "" "0000874142" "20" "70" "6" "76744345" "76744345" "subst" "0.0000365848" "00000" "IMPG1_000085" "g.76744345A>G" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.461T>C (p.Leu154Pro)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76034628A>G" "" "likely pathogenic" "" "0000874143" "21" "70" "6" "76660278" "76660278" "subst" "0.00000424157" "00000" "IMPG1_000036" "g.76660278C>T" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.1824+1G>A" "single heterozygous; no variant found on the other alele, but affected siblings have different haplotype" "Germline" "yes" "" "0" "" "" "g.75950561C>T" "" "likely pathogenic" "" "0000874144" "11" "70" "6" "76660584" "76660584" "subst" "0.000012211" "00000" "IMPG1_000083" "g.76660584G>A" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.1519C>T (p.Arg507*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950867G>A" "" "likely pathogenic" "" "0000874145" "11" "70" "6" "76660584" "76660584" "subst" "0.000012211" "00000" "IMPG1_000083" "g.76660584G>A" "" "{PMID:Manes 2013:23993198}" "" "IMPG1 c.1519C>T (p.Arg507*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950867G>A" "" "likely pathogenic" "" "0000874148" "10" "70" "6" "76713589" "76713589" "subst" "0.0000329712" "00000" "IMPG1_000082" "g.76713589A>G" "" "{PMID:Gonzalez Gomez 2019:30589393}" "" "IMPG1 IVS11 + 2T>C (c.1212 + 2 T > C)" "heterozygous; parents do not have this mutation" "De novo" "?" "" "0" "" "" "g.76003872A>G" "" "likely pathogenic (dominant)" "" "0000874155" "11" "70" "6" "76744345" "76744345" "subst" "0.0000365848" "00000" "IMPG1_000085" "g.76744345A>G" "" "{PMID:Gupta 2019:30688845}" "" "IMPG1 c.461T>C, p.Leu154Pro" "heterozygous; father also heterozygous, but carried a previous diagnosis of central serous chorioretinopathy" "Germline" "yes" "rs713993047" "0" "" "" "g.76034628A>G" "" "likely pathogenic" "" "0000874156" "0" "70" "6" "76744345" "76744345" "subst" "0.0000365848" "00000" "IMPG1_000085" "g.76744345A>G" "" "{PMID:Gupta 2019:30688845}" "" "IMPG1 c.461T>C, p.Leu154Pro" "heterozygous; father also heterozygous, but carried a previous diagnosis of central serous chorioretinopathy" "Germline" "yes" "rs713993047" "0" "" "" "g.76034628A>G" "" "likely pathogenic" "" "0000878651" "3" "90" "6" "76660278" "76660278" "subst" "0.00000424157" "00006" "IMPG1_000036" "g.76660278C>T" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75950561C>T" "" "pathogenic (dominant)" "" "0000878657" "21" "70" "6" "76660278" "76660278" "subst" "0.00000424157" "00006" "IMPG1_000036" "g.76660278C>T" "" "{PMID:Olivier 2021:32817297}" "" "" "3 unaffected carriers in family" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000878658" "21" "90" "6" "76660278" "76660278" "subst" "0.00000424157" "00006" "IMPG1_000036" "g.76660278C>T" "" "{PMID:Olivier 2021:32817297}," "" "" "unaffected carrier mother" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000878659" "3" "90" "6" "76657200" "76657200" "subst" "0" "00006" "IMPG1_000086" "g.76657200T>C" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000878660" "20" "90" "6" "76657237" "76657237" "subst" "0" "00006" "IMPG1_000087" "g.76657237A>G" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878661" "21" "90" "6" "76715179" "76715179" "subst" "0" "00006" "IMPG1_000088" "g.76715179A>T" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878662" "21" "90" "6" "76715179" "76715179" "subst" "0" "00006" "IMPG1_000088" "g.76715179A>T" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878663" "0" "90" "6" "76640830" "76640830" "subst" "0" "00006" "IMPG1_000089" "g.76640830C>A" "" "{PMID:Olivier 2021:32817297}" "" "" "unaffected carrier brother" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000878664" "0" "70" "6" "76657199" "76657199" "subst" "0.00000406623" "00006" "IMPG1_000090" "g.76657199G>A" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000878665" "0" "70" "6" "76657093" "76657093" "subst" "0.0000121911" "00006" "IMPG1_000064" "g.76657093C>T" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000878666" "3" "70" "6" "76657093" "76657093" "subst" "0.0000121911" "00006" "IMPG1_000064" "g.76657093C>T" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000878667" "11" "90" "6" "76660367" "76660367" "subst" "0" "00006" "IMPG1_000010" "g.76660367A>G" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000887470" "0" "50" "6" "76640854" "76640854" "subst" "0" "02330" "IMPG1_000091" "g.76640854G>A" "" "" "" "IMPG1(NM_001563.4):c.2059C>T (p.P687S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887471" "0" "90" "6" "76657235" "76657235" "subst" "0.0000204118" "02327" "IMPG1_000092" "g.76657235G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887472" "0" "50" "6" "76712691" "76712691" "subst" "0.0000772911" "02327" "IMPG1_000093" "g.76712691A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887473" "0" "50" "6" "76728466" "76728466" "subst" "0" "02330" "IMPG1_000047" "g.76728466T>G" "" "" "" "IMPG1(NM_001563.4):c.776A>C (p.Y259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896664" "1" "50" "6" "76715163" "76715163" "subst" "0.0000406878" "00000" "IMPG1_000045" "g.76715163C>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000398" "{PMID:Chen 2021:33608557}" "" "IMPG1 c.[742G>T];[742=]; p.(Asp248Tyr)" "different transcript, NM_001282368.1:c.742G>T, p.(Asp248Tyr); heterozygous" "Germline" "yes" "" "0" "" "" "g.76005446C>A" "" "VUS" "" "0000898848" "11" "50" "6" "76660367" "76660367" "subst" "0" "00000" "IMPG1_000010" "g.76660367A>G" "" "{PMID:Olivier 2021:32817297}" "" "IMPG1 c.1736T>C, p.Leu579Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.75950650A>G" "" "VUS" "ACMG" "0000912587" "0" "30" "6" "76660786" "76660786" "subst" "0.000816236" "02330" "IMPG1_000094" "g.76660786C>T" "" "" "" "IMPG1(NM_001563.4):c.1317G>A (p.M439I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912588" "0" "30" "6" "76734995" "76734995" "subst" "0.000255646" "02330" "IMPG1_000095" "g.76734995G>A" "" "" "" "IMPG1(NM_001563.4):c.498-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924576" "0" "90" "6" "76640840" "76640882" "del" "0" "02327" "IMPG1_000096" "g.76640840_76640882del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924577" "0" "50" "6" "76657112" "76657112" "subst" "0.0000203204" "02327" "IMPG1_000097" "g.76657112C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924578" "0" "30" "6" "76782191" "76782191" "subst" "0.00012292" "02330" "IMPG1_000098" "g.76782191A>G" "" "" "" "IMPG1(NM_001563.4):c.15T>C (p.T5=)" "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 IMPG1 ## Count = 154 "{{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}}" "0000000101" "00010021" "90" "1824" "1" "1824" "1" "c.1824+1G>A" "r.spl" "p.?" "" "0000079546" "00010021" "00" "-33044" "0" "2925135" "0" "c.-33044_*2922741del" "r.0?" "p.0?" "" "0000246467" "00010021" "10" "540" "0" "540" "0" "c.540T>G" "r.(?)" "p.(Gly180=)" "" "0000246479" "00010021" "10" "1930" "0" "1930" "0" "c.1930T>G" "r.(?)" "p.(Ser644Ala)" "" "0000246509" "00010021" "10" "1292" "-7" "1292" "-7" "c.1292-7T>G" "r.(=)" "p.(=)" "" "0000246511" "00010021" "10" "667" "-9" "667" "-9" "c.667-9del" "r.(=)" "p.(=)" "" "0000246538" "00010021" "50" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Met270Arg)" "" "0000278016" "00010021" "10" "301" "19" "301" "19" "c.301+19C>G" "r.(=)" "p.(=)" "" "0000278017" "00010021" "10" "667" "-10" "667" "-9" "c.667-10_667-9del" "r.(=)" "p.(=)" "" "0000278018" "00010021" "10" "667" "-9" "667" "-9" "c.667-9dup" "r.(=)" "p.(=)" "" "0000278020" "00010021" "50" "742" "0" "742" "0" "c.742A>G" "r.(?)" "p.(Lys248Glu)" "" "0000278021" "00010021" "10" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Leu251=)" "" "0000289620" "00010021" "30" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Met515Ile)" "" "0000289621" "00010021" "10" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Lys)" "" "0000338737" "00010021" "10" "1824" "8" "1824" "8" "c.1824+8G>A" "r.(=)" "p.(=)" "" "0000343285" "00010021" "10" "2110" "0" "2110" "0" "c.2110C>T" "r.(?)" "p.(Arg704Trp)" "" "0000346494" "00010021" "10" "1552" "0" "1552" "0" "c.1552C>G" "r.(?)" "p.(His518Asp)" "" "0000347237" "00010021" "50" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "" "0000349163" "00010021" "10" "2282" "0" "2282" "0" "c.2282G>A" "r.(?)" "p.(Ser761Asn)" "" "0000529849" "00010021" "10" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Leu649Phe)" "" "0000529850" "00010021" "50" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Leu649Phe)" "" "0000529851" "00010021" "30" "1842" "0" "1842" "0" "c.1842A>C" "r.(?)" "p.(Arg614=)" "" "0000529852" "00010021" "50" "1346" "0" "1346" "0" "c.1346C>A" "r.(?)" "p.(Pro449His)" "" "0000529853" "00010021" "10" "1191" "0" "1191" "0" "c.1191A>G" "r.(?)" "p.(Thr397=)" "" "0000529854" "00010021" "50" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Arg357Gly)" "" "0000529855" "00010021" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Asp295Asn)" "" "0000529856" "00010021" "50" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Met270Arg)" "" "0000529857" "00010021" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Leu251=)" "" "0000529858" "00010021" "10" "667" "-10" "667" "-10" "c.667-10T>A" "r.(=)" "p.(=)" "" "0000529859" "00010021" "10" "667" "-9" "667" "-9" "c.667-9dup" "r.(=)" "p.(=)" "" "0000529860" "00010021" "90" "665" "0" "665" "0" "c.665del" "r.(?)" "p.(Thr222LysfsTer22)" "" "0000529861" "00010021" "10" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Thr217Ile)" "" "0000529862" "00010021" "10" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Asn215=)" "" "0000529863" "00010021" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Asn215=)" "" "0000529864" "00010021" "10" "540" "0" "540" "0" "c.540T>G" "r.(?)" "p.(Gly180=)" "" "0000529865" "00010021" "10" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Lys)" "" "0000610526" "00010021" "30" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Leu740Phe)" "" "0000610527" "00010021" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Asp471=)" "" "0000610528" "00010021" "10" "1388" "0" "1388" "0" "c.1388G>T" "r.(?)" "p.(Gly463Val)" "" "0000677892" "00010021" "50" "257" "0" "257" "0" "c.257T>A" "r.(?)" "p.(Met86Lys)" "" "0000686101" "00010021" "90" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000686102" "00010021" "90" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000686103" "00010021" "90" "1824" "1" "1824" "1" "c.1824+1G>A" "r.spl" "p.?" "" "0000686116" "00010021" "70" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Leu238Pro)" "" "0000686117" "00010021" "90" "807" "5" "807" "5" "c.807+5G>A" "r.(667_807del,?)" "p.(Glu223_Gln269del,?)" "" "0000689810" "00010021" "30" "1840" "0" "1840" "0" "c.1840C>A" "r.(?)" "p.(Arg614=)" "" "0000689811" "00010021" "30" "667" "-3" "667" "-3" "c.667-3C>T" "r.spl?" "p.?" "" "0000713656" "00010021" "90" "1157" "0" "1157" "0" "c.1157C>A" "r.(?)" "p.(Ala386Asp)" "" "0000721107" "00010021" "30" "1930" "0" "1930" "0" "c.1930T>G" "r.(?)" "p.(Ser644Ala)" "" "0000721108" "00010021" "50" "1646" "0" "1646" "0" "c.1646A>G" "r.(?)" "p.(Asp549Gly)" "" "0000759657" "00010021" "50" "1823" "0" "1823" "0" "c.1823T>C" "r.(?)" "p.(Leu608Pro)" "" "0000763776" "00010021" "50" "2243" "0" "2243" "0" "c.2243G>T" "r.(?)" "p.(Arg748Met)" "" "0000765478" "00010021" "70" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Asp326Tyr)" "" "0000784604" "00010021" "50" "776" "0" "776" "0" "c.776A>C" "r.(?)" "p.(Tyr259Ser)" "" "0000784618" "00010021" "50" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Ser256Cys)" "" "0000784634" "00010021" "50" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Phe144Leu)" "" "0000784645" "00010021" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Lys142Arg)" "" "0000785543" "00010021" "30" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "" "0000788438" "00010021" "50" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Arg507Gln)" "13" "0000788461" "00010021" "50" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Gln667Arg)" "14" "0000788477" "00010021" "50" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.(Tyr258Cys)" "7" "0000788511" "00010021" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Asp62Asn)" "2" "0000791932" "00010021" "10" "145" "-212" "772" "-211" "c.145-212_772-211insA" "r.spl?" "p.?" "1i_6i" "0000791933" "00010021" "10" "498" "-90" "498" "-90" "c.498-90T>C" "r.(=)" "p.(=)" "4i" "0000791934" "00010021" "10" "562" "75" "562" "75" "c.562+75A>T" "r.(=)" "p.(=)" "5i" "0000791935" "00010021" "10" "667" "-9" "667" "-9" "c.667-9delT" "r.(=)" "p.(=)" "6i" "0000791936" "00010021" "10" "888" "-48" "888" "-48" "c.888-48C>T" "r.(=)" "p.(=)" "9i" "0000791937" "00010021" "10" "1682" "0" "1682" "0" "c.1682C>G" "r.(?)" "p.(Thr561Ser)" "13" "0000791938" "00010021" "10" "2044" "52" "2044" "52" "c.2044+52delA" "r.(=)" "p.(=)" "14i" "0000791939" "00010021" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "15" "0000791940" "00010021" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "16" "0000791941" "00010021" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "17" "0000792389" "00010021" "70" "1896" "0" "1896" "0" "c.1896T>G" "r.(?)" "p.(Ser632Arg)" "" "0000794699" "00010021" "70" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "0000794700" "00010021" "70" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Leu649Phe)" "" "0000794701" "00010021" "70" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Cys)" "" "0000794702" "00010021" "70" "335" "0" "335" "0" "c.335del" "r.(?)" "p.(Ile112Thrfs*47)" "" "0000797251" "00010021" "90" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126*)" "" "0000802741" "00010021" "50" "2284" "0" "2284" "0" "c.2284G>C" "r.(?)" "p.(Val762Leu)" "" "0000802742" "00010021" "50" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Asn191Ser)" "" "0000812259" "00010021" "70" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "14" "0000815541" "00010021" "50" "1673" "0" "1673" "0" "c.1673A>G" "r.(?)" "p.(Tyr558Cys)" "" "0000815589" "00010021" "50" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "0000815619" "00010021" "50" "316" "0" "316" "0" "c.316G>C" "r.(?)" "p.(Val106Leu)" "" "0000816229" "00010021" "50" "1924" "0" "1924" "0" "c.1924G>C" "r.(?)" "p.(Ala642Pro)" "" "0000819515" "00010021" "70" "807" "1" "807" "1" "c.807+1G>C" "r.spl" "p.(?)" "" "0000820132" "00010021" "70" "1291" "1" "1291" "1" "c.1291+1G>T" "r.spl" "p.(?)" "" "0000820134" "00010021" "70" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126*)" "" "0000821274" "00010021" "70" "807" "2" "807" "2" "c.807+2T>A" "r.spl" "p.(?)" "" "0000821275" "00010021" "70" "1157" "0" "1157" "0" "c.1157C>A" "r.(?)" "p.(Ala386Asp)" "" "0000828836" "00010021" "50" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Asp326Tyr)" "" "0000860518" "00010021" "30" "2126" "0" "2126" "0" "c.2126A>G" "r.(?)" "p.(Glu709Gly)" "" "0000860519" "00010021" "30" "1228" "0" "1228" "0" "c.1228C>A" "r.(?)" "p.(Pro410Thr)" "" "0000860520" "00010021" "50" "1016" "0" "1016" "0" "c.1016C>A" "r.(?)" "p.(Thr339Asn)" "" "0000860521" "00010021" "30" "771" "0" "771" "0" "c.771A>G" "r.(?)" "p.(Pro257=)" "" "0000860522" "00010021" "50" "503" "0" "503" "0" "c.503A>G" "r.(?)" "p.(Asp168Gly)" "" "0000860523" "00010021" "70" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Gly141*)" "" "0000874008" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874009" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874010" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874011" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874012" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874013" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874014" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874015" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874016" "00010021" "70" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "13" "0000874124" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874125" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874126" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874127" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874128" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874129" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874130" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874131" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874132" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874133" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874134" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874135" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874136" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874137" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874138" "00010021" "70" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000874139" "00010021" "70" "807" "1" "807" "1" "c.807+1G>T" "r.spl" "p.?" "" "0000874140" "00010021" "70" "807" "1" "807" "1" "c.807+1G>T" "r.spl" "p.?" "" "0000874141" "00010021" "70" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Leu154Pro)" "" "0000874142" "00010021" "70" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Leu154Pro)" "" "0000874143" "00010021" "70" "1824" "1" "1824" "1" "c.1824+1G>A" "r.spl" "p.?" "" "0000874144" "00010021" "70" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Ter)" "" "0000874145" "00010021" "70" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Ter)" "" "0000874148" "00010021" "70" "1212" "2" "1212" "2" "c.1212+2T>C" "r.spl" "p.?" "11i" "0000874155" "00010021" "70" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Leu154Pro)" "11i" "0000874156" "00010021" "70" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Leu154Pro)" "11i" "0000878651" "00010021" "90" "1824" "1" "1824" "1" "c.1824+1G>A" "r.spl" "p.?" "" "0000878657" "00010021" "70" "1824" "1" "1824" "1" "c.1824+1G>A" "r.spl" "p.?" "" "0000878658" "00010021" "90" "1824" "1" "1824" "1" "c.1824+1G>A" "r.spl" "p.?" "" "0000878659" "00010021" "90" "1875" "0" "1875" "0" "c.1875A>G" "r.(?)" "p.(Ile625Met)" "" "0000878660" "00010021" "90" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Leu613Pro)" "" "0000878661" "00010021" "90" "960" "0" "960" "0" "c.960T>A" "r.(?)" "p.(Ser320Arg)" "" "0000878662" "00010021" "90" "960" "0" "960" "0" "c.960T>A" "r.(?)" "p.(Ser320Arg)" "" "0000878663" "00010021" "90" "2083" "0" "2083" "0" "c.2083G>T" "r.(?)" "p.(Glu695*)" "" "0000878664" "00010021" "70" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Leu626Phe)" "" "0000878665" "00010021" "70" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "0000878666" "00010021" "70" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "0000878667" "00010021" "90" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "" "0000887470" "00010021" "50" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Pro687Ser)" "" "0000887471" "00010021" "90" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614*)" "" "0000887472" "00010021" "50" "1235" "0" "1235" "0" "c.1235T>C" "r.(?)" "p.(Leu412Pro)" "" "0000887473" "00010021" "50" "776" "0" "776" "0" "c.776A>C" "r.(?)" "p.(Tyr259Ser)" "" "0000896664" "00010021" "50" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Asp326Tyr)" "" "0000898848" "00010021" "50" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "" "0000912587" "00010021" "30" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Met439Ile)" "" "0000912588" "00010021" "30" "498" "-20" "498" "-20" "c.498-20C>T" "r.(=)" "p.(=)" "" "0000924576" "00010021" "90" "2045" "-14" "2073" "0" "c.2045-14_2073del" "r.spl?" "p.?" "" "0000924577" "00010021" "50" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Gly655Arg)" "" "0000924578" "00010021" "30" "15" "0" "15" "0" "c.15T>C" "r.(?)" "p.(Thr5=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 97 "{{screeningid}}" "{{variantid}}" "0000000041" "0000000101" "0000000101" "0000000101" "0000050566" "0000079546" "0000310957" "0000686101" "0000310958" "0000686102" "0000310959" "0000686103" "0000310971" "0000686116" "0000310972" "0000686117" "0000329533" "0000713656" "0000360015" "0000759657" "0000363235" "0000763776" "0000364613" "0000765478" "0000373873" "0000784604" "0000373901" "0000784634" "0000373907" "0000784645" "0000373968" "0000784618" "0000374720" "0000785543" "0000376620" "0000788438" "0000376624" "0000788461" "0000376626" "0000788477" "0000376631" "0000788511" "0000378942" "0000791932" "0000378943" "0000791933" "0000378944" "0000791934" "0000378945" "0000791935" "0000378946" "0000791936" "0000378947" "0000791937" "0000378948" "0000791938" "0000378949" "0000791939" "0000378950" "0000791940" "0000378951" "0000791941" "0000379253" "0000792389" "0000381300" "0000794699" "0000381301" "0000794700" "0000381302" "0000794701" "0000381303" "0000794702" "0000383185" "0000797251" "0000385287" "0000812259" "0000387426" "0000815589" "0000387484" "0000815619" "0000387506" "0000815541" "0000388071" "0000816229" "0000390170" "0000819515" "0000390787" "0000820132" "0000390789" "0000820134" "0000391525" "0000821274" "0000391526" "0000821275" "0000397090" "0000828836" "0000410762" "0000000101" "0000412889" "0000000101" "0000416061" "0000874008" "0000416062" "0000874009" "0000416063" "0000874010" "0000416064" "0000874011" "0000416065" "0000874012" "0000416066" "0000874013" "0000416067" "0000874014" "0000416068" "0000874015" "0000416069" "0000874016" "0000416094" "0000874124" "0000416095" "0000874125" "0000416096" "0000874126" "0000416097" "0000874127" "0000416098" "0000874128" "0000416099" "0000874129" "0000416100" "0000874130" "0000416101" "0000874131" "0000416102" "0000874132" "0000416103" "0000874133" "0000416104" "0000874134" "0000416105" "0000874135" "0000416106" "0000874136" "0000416107" "0000874137" "0000416108" "0000874138" "0000416109" "0000874139" "0000416110" "0000874140" "0000416111" "0000874141" "0000416111" "0000874144" "0000416112" "0000874142" "0000416112" "0000874145" "0000416113" "0000874143" "0000416114" "0000874148" "0000416121" "0000874155" "0000416122" "0000874156" "0000418789" "0000878651" "0000418790" "0000878657" "0000418791" "0000878658" "0000418792" "0000878659" "0000418793" "0000878660" "0000418794" "0000878661" "0000418795" "0000878662" "0000418796" "0000878663" "0000418797" "0000878664" "0000418798" "0000878665" "0000418799" "0000878666" "0000418800" "0000878667" "0000421848" "0000896664"