Full data view for gene BEST1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004183.3 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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ID_report     

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+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1(NM_001139443.2):c.404C>T (p.A135V) - BEST1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - VUS g.61724418C>T g.61956946C>T - - BEST1_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200277476 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #1 - likely pathogenic g.61724418C>T g.61956946C>T NM_001139443.1:c.404C>T - BEST1_000018 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.584C>T r.(?) p.(Ala195Val) Parent #1 - pathogenic (recessive) g.61724418C>T g.61956946C>T - - BEST1_000018 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat105 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic g.61724418C>T g.61956946C>T - - BEST1_000018 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 840 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.584C>T r.(?) p.(Ala195Val) Unknown - pathogenic g.61724418C>T g.61956946C>T NM_001139443.1:404C>T (Ala135Val) - BEST1_000018 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 524 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic (recessive) g.61724418C>T - - - BEST1_000018 - PubMed: Todorova 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam2 PubMed: Todorova 2017 - F - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.584C>T r.(?) p.(Ala195Val) Both (homozygous) - pathogenic (recessive) g.61724418C>T g.61956946C>T NM_001139443.1:c.404C>T - BEST1_000018 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case70946 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #1 - likely pathogenic (dominant) g.61724418C>T g.61956946C>T - - BEST1_000018 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CACD7 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - pathogenic (recessive) g.61724418C>T g.61956946C>T - - BEST1_000018 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-138-376 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 4 c.584C>T r.(?) p.(Ala195Val) Unknown ACMG pathogenic g.61956946C>T g.61956946C>T BEST1 c.584C > T, p.Ala195Val, heterozygous - BEST1_000018 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 8 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.888C>A; c.584C>T - BEST1_000018 no protein change given, compound heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 55 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T - c.584C>T - BEST1_000018 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T - c.584C>T - BEST1_000018 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
?/. - c.584C>T r.(?) p.(Ala195Val) Unknown ACMG VUS g.61724418C>T g.61956946C>T BEST1 c.C584T, p.A195V - BEST1_000018 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 24 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic (dominant) g.61724418C>T - c.584C>T - BEST1_000018 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 GCG-GTG, Ala195Val - BEST1_000018 heterozygous PubMed: Lotery 2000 - - Unknown ? - - - - DNA SSCA, SEQ - - retinal disease ? PubMed: Lotery 2000 - ? - - - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T VMD2 c.584C>T, Ala195Val - BEST1_000018 heterozygous PubMed: Kramer 2003 - - Unknown ? - - - - DNA SEQ blood - retinal disease 11456 PubMed: Kramer 2003 - ? - - - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T VMD2 c.[584CT; 400CG], p.[Ala195Val; Leu134Val] - BEST1_000018 heterozygous PubMed: Boon 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Boon 2007 - F - Netherlands - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T VMD2 c.584C>T, p.Ala195Val - BEST1_000018 heterozygous PubMed: Boon 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease 8 PubMed: Boon 2007 - M - Netherlands - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Parent #1 - likely pathogenic g.61724418C>T g.61956946C>T A195V - BEST1_000018 - PubMed: Gerth 2009 - - Germline yes - - - - DNA SEQ - - retinal disease ? PubMed: Gerth 2009 - M - Canada - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 C584T, Ala195Val - BEST1_000018 heterozygous PubMed: Kinnick 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease BST-C I-1 PubMed: Kinnick 2011 asymptomatic based on visual acuity and electrooculogram F - United States - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 C584T, Ala195Val - BEST1_000018 compound heterozygous PubMed: Kinnick 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease BST-C II-3 PubMed: Kinnick 2011 proband M - United States - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 C584T, Ala195Val - BEST1_000018 compound heterozygous PubMed: Kinnick 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease BST-C II-4 PubMed: Kinnick 2011 affected M - United States - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 Ala195Val, C584T - BEST1_000018 compound heterozygous PubMed: Kinnick 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease BST-D PubMed: Kinnick 2011 proband ? - United States - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T Ala195Val - BEST1_000018 no nucleotide annotation provided PubMed: MacDonald 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease Case II PubMed: MacDonald 2011 - F - - asian (Philippines) - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val5 - BEST1_000018 probably compound heterozygous; DNA was unavailable, however, each of his unaffected parents carried heterozygous BEST1 missense mutation PubMed: Borman 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: Borman 2011 - M - - - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Paternal (confirmed) - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val5 - BEST1_000018 compound heterozygous PubMed: Borman 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 5 PubMed: Borman 2011 Family 5, proband M - - - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Paternal (confirmed) - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val5 - BEST1_000018 compound heterozygous PubMed: Borman 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 6 PubMed: Borman 2011 Family 5, proband's brother M - - - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Maternal (inferred) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Katagiri 2015 - - Germline ? - - - - DNA SEQ blood - retinal disease G.II-2 PubMed: Katagiri 2015 Family G, individual II-2 - proband M - Japan Asian - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, A195V - BEST1_000018 heterozygous PubMed: Sharon 2014 - - Germline yes - - - - DNA SEQ - - retinal disease I:2 PubMed: Sharon 2014 Family 1, individual I:2 (proband's father) M - Denmark - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Paternal (confirmed) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, A195V - BEST1_000018 heterozygous PubMed: Sharon 2014 - - Germline yes - - - - DNA SEQ - - retinal disease II:3 PubMed: Sharon 2014 Family 1, individual II:3 (proband) M - Denmark - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 compound heterozygous PubMed: Tian 2014 - - Germline yes - - - - DNA SEQ - - retinal disease L_II:1 PubMed: Tian 2014 family L, individual II:1 M - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Paternal (confirmed) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 compound heterozygous PubMed: Tian 2014 - - Germline yes - - - - DNA SEQ - - retinal disease K_II:2 PubMed: Tian 2014 family K, individual II:2 M - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, A195V - BEST1_000018 heterozygous PubMed: Lee 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease II:5 PubMed: Lee 2015 proband M - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, A195V - BEST1_000018 heterozygous PubMed: Lee 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease II:8 PubMed: Lee 2015 proband F - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Nakanishi 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 3840_NA1044 PubMed: Nakanishi 2016 family III, individual B1 M - Japan Asian - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Nakanishi 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 3840_NA0044 PubMed: Nakanishi 2016 family III, individual B1 F - Japan Asian - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Nakanishi 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 3840_NA0062 PubMed: Nakanishi 2016 family IV, individual B1 F - Japan Asian - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic (recessive) g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Nakanishi 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 3840_JU0773 PubMed: Nakanishi 2016 family V, individual B1 F - Japan Asian - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Tian 2014 - - Unknown yes - - - - DNA SEQ - - retinal disease 010424 PubMed: Tian 2014 - M - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Tian 2014 - - Unknown ? - - - - DNA SEQ - - retinal disease 010286 PubMed: Tian 2014 - M - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Tian 2014 - - Unknown yes - - - - DNA SEQ - - retinal disease 010292 PubMed: Tian 2014 - M - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.A195V - BEST1_000018 heterozygous PubMed: Tian 2014 - - Unknown yes - - - - DNA SEQ - - retinal disease 010399 PubMed: Tian 2014 - F - China - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, A195V - BEST1_000018 heterozygous PubMed: Gao 2018 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Gao 2018 - - - China - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, A195V - BEST1_000018 heterozygous PubMed: Gao 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease 7 PubMed: Gao 2018 - - - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Paternal (inferred) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T (p.A195V) - BEST1_000018 heterozygous PubMed: Luo 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease 6,II:1 PubMed: Luo 2018 - M - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T (p.A195V) - BEST1_000018 heterozygous PubMed: Luo 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease 7,II:1 PubMed: Luo 2018 - F - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T (p.A195V) - BEST1_000018 heterozygous PubMed: Luo 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease 12,II:3 PubMed: Luo 2018 - F - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 A195V - BEST1_000018 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Nachtigal 2020 - - Unknown ? - - - - DNA SEQ - - retinal disease A195V/L197PX26 PubMed: Nachtigal 2020 - - - - - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 A195V - BEST1_000018 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Nachtigal 2020 - - Unknown ? - - - - DNA SEQ - - retinal disease +/A195V PubMed: Nachtigal 2020 - - - - - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val - BEST1_000018 heterozygous PubMed: Birtel 2020 - - Unknown ? - - - - DNA SEQ - retrospective study retinal disease 5 PubMed: Birtel 2020 - F - - - - - - - 1 LOVD
+?/. 5 c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val - BEST1_000018 heterozygous PubMed: Birtel 2020 - - Unknown ? - - - - DNA SEQ - retrospective study retinal disease 6 PubMed: Birtel 2020 - F - - - - - - - 1 LOVD
+/. 5 c.584C>T r.(?) p.(Ala195Val) Parent #1 ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F17-1 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+/. 5 c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F27-1 PubMed: Gao 2019 - M - China - - - - - 1 LOVD
+/. 5 c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F30-1 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+/. 5 c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F48-1 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+/. 5 c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Gao 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease F48-2 PubMed: Gao 2019 - F - China - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, Ala195Val - BEST1_000018 heterozygous PubMed: Hwan Lee 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 2 PubMed: Hwan Lee 2020 - F - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Maternal (confirmed) - likely pathogenic g.61724418C>T g.61956946C>T BEST1 p.(A195V) - BEST1_000018 heterozygous PubMed: Habibi 2019 - - Germline yes - - - - DNA SEQ blood Whole Exome Sequencing retinal disease Proband (ll.1) PubMed: Habibi 2019 Family C F - - - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Paternal (confirmed) ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.102C>T, p.Gly34Gly - BEST1_000018 heterozygous; father, heterozygous PubMed: Hufendiek 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease F1_1 PubMed: Hufendiek 2020 additional affected: none; family F1_1, individual 1 F - Germany - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Both (homozygous) ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.102C>T, p.Gly34Gly - BEST1_000018 homozygous; parents not available PubMed: Hufendiek 2020 - - Unknown ? - - - - DNA SEQ blood - retinal disease F10_11 PubMed: Hufendiek 2020 additional affected: none; family F10_11, individual 11 M - Germany - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.102C>T, p.Gly34Gly - BEST1_000018 heterozygous; parents not available PubMed: Hufendiek 2020 - - Unknown ? - - - - DNA SEQ blood - retinal disease F3_3 PubMed: Hufendiek 2020 additional affected: none; family F3_3, individual 3 M - Germany - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.102C>T, p.Gly34Gly - BEST1_000018 heterozygous; brother #17; parents not available PubMed: Hufendiek 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease F14_16 PubMed: Hufendiek 2020 additional affected: brother (#17); family F14_16, individual 16 M - Germany - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Parent #2 ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.102C>T, p.Gly34Gly - BEST1_000018 heterozygous; brother #16; parents not available PubMed: Hufendiek 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease F14_17 PubMed: Hufendiek 2020 additional affected: brother (#16); family F14_17, individual 17 M - Germany - - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T;p.A195V - BEST1_000018 heterozygous PubMed: Nowomiejska 2021 - - Unknown ? - - - - DNA SEQ-NG blood whole exome sequencing retinal disease MB64 PubMed: Nowomiejska 2021 - F - - German - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 p.A195V - BEST1_000018 no nucleotide written, extrapolated from protein; heterozygous PubMed: Lin 2021 - - Unknown ? - - - - DNA SEQ blood - retinal disease Patient no. 2 PubMed: Lin 2021 - M - China Asian - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val - BEST1_000018 heterozygous PubMed: Casalino 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ blood Whole Exome Sequencing retinal disease 14 PubMed: Casalino 2020 - M - - white - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.Ala195Val - BEST1_000018 heterozygous PubMed: Casalino 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ blood Whole Exome Sequencing retinal disease 8 PubMed: Casalino 2020 - M - - white - - - - 1 LOVD
+?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely pathogenic g.61724418C>T - BEST1(NM_001139443.2):c.404C>T (p.A135V) - BEST1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.584C>T r.(?) p.(Ala195Val) Paternal (confirmed) - pathogenic g.61724418C>T g.61956946C>T - - BEST1_000018 variant in unaffected father PubMed: Fan 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Pat5 PubMed: Fan 2020 2-generation family, 1 affected - - China - - - - - 1 Johan den Dunnen
+/. - c.584C>T r.(?) p.(Ala195Val) Unknown - pathogenic (!) g.61724418C>T g.61956946C>T - - BEST1_000018 incomplete penetrance PubMed: Liu 2023 rs200277476 rs200277476 Germline no - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam83Pat228 PubMed: Liu 2023 family M - China - - - - - 2 Johan den Dunnen
+/. - c.584C>T r.(?) p.(Ala195Val) Unknown - pathogenic (!) g.61724418C>T g.61956946C>T - - BEST1_000018 incomplete penetrance PubMed: Liu 2023 rs200277476 rs200277476 Germline no - - - - DNA SEQ, SEQ-NG - 792 gene panel Healthy/Control Fam83Pat230 PubMed: Liu 2023 relative M - China - - - - - 1 Johan den Dunnen
+/. - c.584C>T r.(?) p.(Ala195Val) Unknown ACMG pathogenic g.61724418C>T g.61956946C>T - - BEST1_000018 ACMG PP3, PM2, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-249 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+/. 5 c.584C>T r.(?) p.(Ala195Val) Parent #2 ACMG pathogenic g.61724418C>T g.61956946C>T - - BEST1_000018 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071078 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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