All individuals with variants in gene FLVCR1

30 entries on 1 page. Showing entries 1 - 30.
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AscendingIndividual ID     

ID_report     

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VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

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Owner     
00333425 RD4–03 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333834 30 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA1a 2 1 LOVD
00333835 31 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1a 2 1 LOVD
00334103 640 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IB7 2 1 LOVD
00334104 641 PubMed: Stone 2017 family, 4 affected F - (United States) - - - - - retinal disease clinical category IB7 1 4 LOVD
00335974 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00358952 Case71882 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358967 Case71315 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 2 1 LOVD
00358968 Case29303 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00373499 RH13-PatII1 PubMed: Liu 2015 - F - China - - - - - retinal disease see paper; ... 2 1 LOVD
00376767 29 PubMed: Wang 2014 - M - United States - - - - - retinal disease - 1 1 LOVD
00382546 408 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00386175 RPN-288 PubMed: Rodriguez-Munoz 2020 family fRPN-131, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00386575 003-061 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00386583 003-273 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00386613 121-043 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00387391 11 PubMed: Sun 2020 - F - China - - - - - retinal disease posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: FC/HM, hearing loss 1 1 LOVD
00389120 404 PubMed: Weisschuh 2020 Filing key number: 131, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389555 839 PubMed: Weisschuh 2020 Filing key number: 347, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389625 909 PubMed: Weisschuh 2020 Filing key number: 387, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389626 910 PubMed: Weisschuh 2020 Filing key number: 387, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389802 1086 PubMed: Weisschuh 2020 Filing key number: 723, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389881 1165 PubMed: Weisschuh 2020 Filing key number: 833, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389982 1266 PubMed: Weisschuh 2020 Filing key number: 1070, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00395599 RP-2238 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease rod-cone dystrophy, ataxia 1 1 LOVD
00396655 - PubMed: Numa 2020 - M - Japan Japanese - - - - retinal disease - 2 1 LOVD
00408982 11 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - AXPC1 impaired proprioception; retinitis pigmentosa 1 1 LOVD
00446971 ARRP-347 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 2 2 Johan den Dunnen
00446976 ARRP-387 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 2 1 Johan den Dunnen
00447019 ARRP-488 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 2 2 Johan den Dunnen
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