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.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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.728C>T r.(?) p.(Ala243Val) Unknown - pathogenic g.61725631C>T g.61958159C>T - - BEST1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.728C>T r.(?) p.(Ala243Val) Parent #1 - pathogenic (dominant) g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat152 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+/. 7 c.728C>T r.(?) p.(Ala243Val) Parent #1 - pathogenic (dominant) g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat163 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 847 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.728C>T r.(?) p.(Ala243Val) Parent #1 - pathogenic (recessive) g.61725631C>T g.61958159C>T NM_001139443.1:c.548C>T - BEST1_000027 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Parent #1 - likely pathogenic (dominant) g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease MDS47 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
?/. 7 c.728C>T r.(?) p.(Ala243Val) Parent #1 - VUS g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease BesPat16 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. 7 c.728C>T r.(?) p.(Ala243Val) Parent #1 - VUS g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease BesPat17 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown ACMG likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 63 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Parent #1 - likely pathogenic g.61725631C>T g.61958159C>T BEST1, variant 1: c.728C>T/p.A243V - BEST1_000027 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 164 PubMed: Weisschuh 2020 Filing key number: 66, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Parent #1 - likely pathogenic g.61725631C>T g.61958159C>T BEST1, variant 1: c.728C>T/p.A243V - BEST1_000027 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 260 PubMed: Weisschuh 2020 Filing key number: 88, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T - c.728C>T - BEST1_000027 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.Ala243Val - BEST1_000027 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 102 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease A-13 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease A-18 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease A-36 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease A-37 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease B-10 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease B-12 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease B-27 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C728T, A243V - BEST1_000027 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease B-41 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, Ala243Val - BEST1_000027 heterozygous PubMed: Kramer 2003 - - Unknown ? - - - - DNA SEQ blood - retinal disease 991228 PubMed: Kramer 2003 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, Ala243Val - BEST1_000027 heterozygous PubMed: Kramer 2003 - - Unknown ? - - - - DNA SEQ blood - retinal disease 11259 PubMed: Kramer 2003 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, Ala243Val - BEST1_000027 heterozygous PubMed: Kramer 2003 - - Unknown ? - - - - DNA SEQ blood - retinal disease 144 PubMed: Kramer 2003 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, Ala243Val - BEST1_000027 heterozygous PubMed: Kramer 2003 - - Unknown ? - - - - DNA SEQ blood - retinal disease 10185 PubMed: Kramer 2003 - ? - - - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, Ala243Val - BEST1_000027 heterozygous PubMed: Kramer 2003 - - Unknown ? - - - - DNA SEQ blood - retinal disease 990700 PubMed: Kramer 2003 - ? - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Pollack 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III-2 PubMed: Pollack 2005 mother F - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Pollack 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-3 PubMed: Pollack 2005 daughter F - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Pollack 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-4 PubMed: Pollack 2005 son 1 M - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Pollack 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-5 PubMed: Pollack 2005 son 2 M - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 A243V - BEST1_000027 nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous PubMed: Renner 2005 - - Germline yes - - - - DNA SEQ blood Retrospective study retinal disease 1150 (A-5) PubMed: Renner 2005 family B - father M - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T VMD2 A243V - BEST1_000027 nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous PubMed: Renner 2005 - - Germline yes - - - - DNA SEQ blood Retrospective study retinal disease 1149 (A-4) PubMed: Renner 2005 family B - daughter F - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease K-IV.1 PubMed: Boon 2009 Family K, individual IV.1 F - Netherlands - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Paternal (confirmed) - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C>T728, A243V - BEST1_000027 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease FG01 (FamilyFG I) PubMed: Querques 2009 - M - France - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Paternal (confirmed) - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C>T728, A243V - BEST1_000027 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease FG02 (FamilyFG I) PubMed: Querques 2009 - F - France - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C>T728, A243V - BEST1_000027 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease FG03 (FamilyFG I) PubMed: Querques 2009 - M - France - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Maternal (confirmed) - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C>T728, A243V - BEST1_000027 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease FG04 (FamilyFG I) PubMed: Querques 2009 - F - France - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Maternal (confirmed) - likely pathogenic g.61725631C>T g.61958159C>T BEST1 C>T728, A243V - BEST1_000027 heterozygous PubMed: Querques 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease FG05 (FamilyFG I) PubMed: Querques 2009 - F - France - - - - - 1 LOVD
+?/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Bitner 2012 - - Germline yes - - - - DNA SEQ - - retinal disease VMD200022 PubMed: Bitner 2012 family VMD200022 - - - - - - - - 1 LOVD
+?/. p.Ala243Val c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.Ala234Val - BEST1_000027 error in annotation, c.728C>T causes heterozygous PubMed: Sodi 2012 - - Germline yes - - - - DNA SEQ - - retinal disease II-1 PubMed: Sodi 2012 family O, individual II-1 F - Italy - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 1a (GC31650) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ - - retinal disease 1b (GC28880) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ - - retinal disease 2a (GC31925) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 2b (GC32406) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ - - retinal disease 3 (GC22319) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ - - retinal disease 4 (GC31312) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ - - retinal disease 5 (GC30444) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ - - retinal disease 6 (GC33133) PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 p.Ala243Val - BEST1_000027 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Khan 2018 - - Unknown ? - - - - DNA SEQ blood - retinal disease Patient 5 PubMed: Khan 2018 - - - - - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Augstburger 2019 - - Unknown ? - - - - DNA SEQ blood retrospective study retinal disease F3828_CIC06976 PubMed: Augstburger 2019 family F3828, individual CIC06976, proband ? - France - - - - - 1 LOVD
+/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown ACMG pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Frecer 2019 - rs28940570 Unknown ? T= 0.000008/1 - - - DNA SEQ blood - retinal disease P28 PubMed: Frecer 2019 - M - Italy - - - - - 1 LOVD
+/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown ACMG pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Frecer 2019 - rs28940570 Germline yes T= 0.000008/1 - - - DNA SEQ blood - retinal disease P29 PubMed: Frecer 2019 - F - Italy - - - - - 1 LOVD
+/. 7 c.728C>T r.(?) p.(Ala243Val) Unknown ACMG pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T, p.(Ala243Val) - BEST1_000027 heterozygous PubMed: Frecer 2019 - rs28940570 Germline yes T= 0.000008/1 - - - DNA SEQ blood - retinal disease P30 PubMed: Frecer 2019 - F - Italy - - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T;p.A243V - BEST1_000027 heterozygous PubMed: Nowomiejska 2021 - - Unknown ? - - - - DNA SEQ-NG blood whole exome sequencing retinal disease MB27 PubMed: Nowomiejska 2021 - M - - German - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T;p.A243V - BEST1_000027 heterozygous PubMed: Nowomiejska 2021 - - Unknown ? - - - - DNA SEQ-NG blood whole exome sequencing retinal disease MB31 PubMed: Nowomiejska 2021 - M - - German - - - - 1 LOVD
+?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely pathogenic g.61725631C>T g.61958159C>T BEST1 c.728C>T;p.A243V - BEST1_000027 heterozygous PubMed: Nowomiejska 2021 - - Unknown ? - - - - DNA SEQ-NG blood whole exome sequencing retinal disease MB88 PubMed: Nowomiejska 2021 - F - - German - - - - 1 LOVD
+/. - c.728C>T r.(?) p.(Ala243Val) Unknown ACMG pathogenic g.61725631C>T g.61958159C>T - - BEST1_000027 ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BVMD-104 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+/. 7 c.728C>T r.(?) p.(Ala243Val) Parent #1 ACMG pathogenic g.61725631C>T g.61958159C>T - - BEST1_000027 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066673 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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