Full data view for gene GNAT1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_144499.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3679C>T r.(?) p.(=) Unknown - likely benign g.50225480C>T - SEMA3F(NM_004186.3):c.2290C>T (p.(Pro764Ser)) - SEMA3F_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3652A>G r.(?) p.(=) Unknown - VUS g.50225507A>G g.50188074A>G SEMA3F(NM_001318800.1):c.2224A>G (p.K742E) - SEMA3F_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8del r.(?) p.(Ala3Valfs*17) Unknown ACMG pathogenic g.50229166del - c.8delC - GNAT1_000010 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
-?/. - c.15C>T r.(?) p.(Ala5=) Unknown - likely benign g.50229173C>T g.50191740C>T GNAT1(NM_144499.2):c.15C>T (p.A5=) - SEMA3F_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39G>A r.(?) p.(Arg13=) Unknown - likely benign g.50229197G>A - GNAT1(NM_144499.2):c.39G>A (p.R13=), GNAT1(NM_144499.3):c.39G>A (p.R13=) - SEMA3F_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39G>A r.(?) p.(Arg13=) Unknown - likely benign g.50229197G>A - GNAT1(NM_144499.2):c.39G>A (p.R13=), GNAT1(NM_144499.3):c.39G>A (p.R13=) - SEMA3F_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.51del r.(?) p.(Lys18Serfs*2) Unknown - likely pathogenic g.50229209del - GNAT1(NM_144499.3):c.51delG (p.K18Sfs*2) - SEMA3F_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66C>T r.(?) p.(Asp22=) Unknown - likely benign g.50229224C>T g.50191791C>T GNAT1(NM_144499.3):c.66C>T (p.D22=) - SEMA3F_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.98T>C r.(?) p.(Leu33Pro) Parent #1 ACMG likely pathogenic (recessive) g.50229256T>C - - - GNAT1_000029 - - - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - CSNB - - - M no India Asian >56y - yes none 1 Srilekha Sundar
?/. - c.107G>A r.(?) p.(Gly36Asp) Unknown ACMG VUS g.50230566G>A g.50193133G>A GNAT1 c.107G>A, p.(Gly36Asp) - GNAT1_000018 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 409 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. 2 c.113G>A r.(?) p.(Gly38Asp) Unknown - VUS g.50230572G>A - - - GNAT1_000007 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:1 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1724 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:4 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1725 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:6 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1726 F - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:8 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1727 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:13 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1728 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XII:1 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1729 F - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XII:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1730 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XII:14 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1731 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease IX:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1719 F - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:2 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1720 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:6 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1721 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:8 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1722 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1723 M - France - - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ - - retinal disease I-2 PubMed: Hayashi 2020 proband's maternal aunt; I:3 on the pedigree F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease II-2 PubMed: Hayashi 2020 proband F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ - - retinal disease II-3 PubMed: Hayashi 2020 proband's sister F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ - - retinal disease II-4 PubMed: Hayashi 2020 proband's maternal aunt's daughter 1, also had an affected sister (untested) F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease III-1 PubMed: Hayashi 2020 proband's daughter F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Unknown - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease III-2 PubMed: Hayashi 2020 proband's son M - Japan Japanese - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Parent #2 ACMG likely pathogenic g.50230583A>G - - - GNAT1_000030 - - - - Germline yes - - - - DNA SEQ-NG - - CSNB - - - M no India Asian >56y - yes none 1 Srilekha Sundar
-/. - c.150-17G>A r.(=) p.(=) Unknown - benign g.50230681G>A g.50193248G>A GNAT1(NM_144499.3):c.150-17G>A - SEMA3F_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.155T>A r.(?) p.(Ile52Asn) Unknown - likely pathogenic (dominant) g.50230703T>A g.50193270T>A GNAT1 c.155T>A p.Ile52Asn - GNAT1_000027 heterozygous PubMed: Zeitz 2018, PubMed: Marmor 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease I:1 PubMed: Zeitz 2018;PubMed: Marmor 2018 proband M - - Hong-Kong Chinese - - - - 1 LOVD
+?/. 3 c.155T>A r.(?) p.(Ile52Asn) Paternal (confirmed) - likely pathogenic (dominant) g.50230703T>A g.50193270T>A GNAT1 c.155T>A p.Ile52Asn - GNAT1_000027 heterozygous PubMed: Zeitz 2018PubMed: Marmor 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease II:1 PubMed: Zeitz 2018;PubMed: Marmor 2018 proband's daughter F - - Hong-Kong Chinese - - - - 1 LOVD
+?/. - c.218C>T r.(?) p.(Thr73Met) Parent #1 - likely pathogenic (dominant) g.50230766C>T g.50193333C>T - - GNAT1_000013 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680975 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 3 c.218C>T r.(?) p.(Thr73Met) Unknown - likely pathogenic g.50230766C>T - c.218C>T - GNAT1_000013 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+/. 3 c.282del r.(?) p.(Ala95Hisfs*9) Both (homozygous) - pathogenic (recessive) g.50230830del g.50193397del - - GNAT1_000006 - - - - Germline - - - - - DNA SEQ-NG-I blood - RD - - - M - Mexico - - - - - 1 Juan Carlos Zenteno
+/. - c.282del r.(?) p.(Ala95Hisfs*9) Both (homozygous) ACMG pathogenic g.50230830del g.50193397del 282delT - GNAT1_000006 ACMG PVS1, PM2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3662 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.291G>C r.(?) p.(Gln97His) Unknown ACMG VUS g.50230839G>C g.50193406G>C GNAT1 c.G291C, p.Q97H - GNAT1_000023 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 104 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
-?/. - c.292-3C>T r.spl? p.? Unknown - likely benign g.50230936C>T - GNAT1(NM_144499.2):c.292-3C>T - SEMA3F_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.294C>T r.(?) p.(Asp98=) Unknown - benign g.50230941C>T g.50193508C>T GNAT1(NM_144499.2):c.294C>T (p.D98=), GNAT1(NM_144499.3):c.294C>T (p.D98=) - GNAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294C>T r.(?) p.(Asp98=) Unknown - likely benign g.50230941C>T g.50193508C>T GNAT1(NM_144499.2):c.294C>T (p.D98=), GNAT1(NM_144499.3):c.294C>T (p.D98=) - GNAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.359C>A r.(?) p.(Ser120*) Both (homozygous) - pathogenic g.50231006C>A - c.359C>A - GNAT1_000031 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.379T>C r.(?) p.(Trp127Arg) Unknown - VUS g.50231026T>C g.50193593T>C GNAT1(NM_144499.2):c.379T>C (p.W127R) - SEMA3F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379T>C r.(?) p.(Trp127Arg) Unknown - VUS g.50231026T>C - GNAT1(NM_144499.2):c.379T>C (p.W127R) - SEMA3F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.386A>G r.(?) p.(Asp129Gly) Both (homozygous) - pathogenic g.50231033A>G g.50193600A>G - - GNAT1_000001 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - CSNB 61130 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. 4 c.386A>G r.(?) p.(Asp129Gly) Both (homozygous) - pathogenic (recessive) g.50231033A>G g.50193600A>G - - GNAT1_000001 - PubMed: Naeem 2012 - - Germline yes - - - - DNA SEQ - - CSNB - PubMed: Naeem 2012 5-generation family, 4 affected (F, 3M) F;M yes Pakistan - - - - - 4 Johan den Dunnen
+?/. - c.413G>A r.(?) p.(Arg138His) Parent #1 - likely pathogenic g.50231060G>A g.50193627G>A - - GNAT1_000016 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM783 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
-/. - c.449+34_449+40dup r.(=) p.(=) Unknown - benign g.50231130_50231136dup g.50193697_50193703dup GNAT1(NM_144499.3):c.449+31_449+37dupCGCGGGG - SEMA3F_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.460G>T r.(?) p.(Asp154Tyr) Unknown ACMG likely pathogenic g.50231196G>T - - - GNAT1_000011 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.508G>A r.(?) p.(Val170Met) Parent #1 - likely pathogenic (dominant) g.50231244G>A g.50193811G>A - - GNAT1_000014 - PubMed: Zhou 2018 - rs149647295 Germline - - - - - DNA SEQ-NG - WES retinal disease 690765 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 5 c.508G>A r.(?) p.(Val170Met) Unknown - likely pathogenic g.50231244G>A - c.508G>A - GNAT1_000014 - PubMed: Zhou-2011 - rs149647295 Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.514C>G r.(?) p.(Arg172Gly) Unknown ACMG VUS g.50231250C>G g.50193817C>G - - GNAT1_000034 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1246 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.574T>C r.(?) p.(Phe192Leu) Unknown - VUS g.50231310T>C - - - SEMA3F_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.586G>A r.(?) p.(Asp196Asn) Unknown - VUS g.50231532G>A - GNAT1(NM_144499.3):c.586G>A (p.D196N) - GNAT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595G>A r.(?) p.(Gly199Arg) Unknown - VUS g.50231541G>A - GNAT1(NM_144499.3):c.595G>A (p.G199R) - GNAT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.598C>G r.(?) p.(Gln200Glu) Parent #1 - pathogenic (dominant) g.50231544C>G g.50194111C>G - - GNAT1_000008 not in 104 control chromosomes PubMed: Szabo 2007 - - Germline yes - - - - DNA SEQ - - CSNB - PubMed: Szabo 2007 4-generation family, 9 affected (3F, 9M) F;M no Denmark - - - - - 9 Johan den Dunnen
-?/. - c.633C>T r.(?) p.(Phe211=) Unknown - likely benign g.50231579C>T g.50194146C>T GNAT1(NM_144499.2):c.633C>T (p.F211=) - GNAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.653T>C r.(?) p.(Ile218Thr) Parent #1 - likely pathogenic (dominant) g.50231599T>C g.50194166T>C - - GNAT1_000015 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680650 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
?/. - c.653T>C r.(?) p.(Ile218Thr) Unknown - VUS g.50231599T>C g.50194166T>C - - GNAT1_000015 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP373 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
?/. - c.653T>C r.(?) p.(Ile218Thr) Unknown - VUS g.50231599T>C g.50194166T>C - - GNAT1_000015 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP391 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. 6 c.653T>C r.(?) p.(Ile218Thr) Unknown - likely pathogenic g.50231599T>C - c.653T>C - GNAT1_000015 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
-?/. - c.708+10A>T r.(=) p.(=) Unknown - likely benign g.50231664A>T - GNAT1(NM_144499.2):c.708+10A>T - GNAT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734T>A r.(?) p.(Leu245Gln) Unknown - VUS g.50231959T>A - - - GNAT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.753C>A r.(?) p.(Asn251Lys) Unknown - pathogenic (dominant) g.50231978C>A g.50194545C>A - - GNAT1_000033 - PubMed: Kim 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CSNB Pat2 PubMed: Kim 2021 - M - Korea - - - - - 1 Johan den Dunnen
?/. - c.782T>A r.(?) p.(Val261Glu) Unknown ACMG VUS g.50232007T>A g.50194574T>A GNAT1 c.T782A, p.V261E - GNAT1_000024 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 104 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. - c.803A>C r.(?) p.(Asp268Ala) Unknown - likely pathogenic g.50232028A>C g.50194595A>C GNAT1 c.803A>C, p.Asp268Ala - GNAT1_000022 heterozygous PubMed: Liu 2020 - rs763074721 Germline/De novo (untested) ? 1/64 - - - DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing retinal disease G1502 PubMed: Liu 2020 - ? - China - - - - - 1 LOVD
?/. - c.805G>C r.(?) p.(Val269Leu) Unknown - VUS g.50232030G>C - GNAT1(NM_144499.3):c.805G>C (p.V269L) - GNAT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.818_820del r.(?) p.(Lys273del) Both (homozygous) - likely pathogenic (recessive) g.50232043_50232045del g.50194610_50194612del GNAT1 c.818_820delAGA, p.Lys273del - GNAT1_000028 homozygous PubMed: Kubota 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing, exome sequencing retinal disease II:1 PubMed: Kubota 2019 proband M - Japan Japanese - - - - 1 LOVD
+?/. 7 c.818_820del r.(?) p.(Lys273del) Both (homozygous) - likely pathogenic (recessive) g.50232043_50232045del g.50194610_50194612del GNAT1 c.818_820delAGA, p.Lys273del - GNAT1_000028 homozygous PubMed: Kubota 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing, exome sequencing retinal disease II:2 PubMed: Kubota 2019 proband's sister 1 F - Japan Japanese - - - - 1 LOVD
+?/. 7 c.818_820del r.(?) p.(Lys273del) Both (homozygous) - likely pathogenic (recessive) g.50232043_50232045del g.50194610_50194612del GNAT1 c.818_820delAGA, p.Lys273del - GNAT1_000028 homozygous PubMed: Kubota 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing, exome sequencing retinal disease II:3 PubMed: Kubota 2019 proband's sister 2 F - Japan Japanese - - - - 1 LOVD
+?/. - c.819G>T r.(?) p.(Lys273Asn) Parent #1 - likely pathogenic g.50232044G>T g.50194611G>T - - GNAT1_000017 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM665 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
+/. - c.863-2A>G r.spl p.(?) Unknown ACMG pathogenic g.50232196A>G g.50194763A>G GNAT1 c.[863-2A>G];[863-2=], V1: c.863-2A>G, - GNAT1_000025 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F253 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.863-2A>G r.spl p.? Parent #1 - pathogenic g.50232196A>G g.50194763A>G GNAT1 c.[863-2A>G];[863-2=]; p.? - GNAT1_000025 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F253 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-/. - c.876C>T r.(?) p.(Tyr292=) Unknown - benign g.50232211C>T g.50194778C>T GNAT1(NM_144499.2):c.876C>T (p.Y292=), GNAT1(NM_144499.3):c.876C>T (p.Y292=) - GNAT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876C>T r.(?) p.(Tyr292=) Unknown - likely benign g.50232211C>T g.50194778C>T GNAT1(NM_144499.2):c.876C>T (p.Y292=), GNAT1(NM_144499.3):c.876C>T (p.Y292=) - GNAT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.904C>T r.(?) p.(Gln302Ter) Unknown - likely pathogenic g.50232239C>T g.50194806C>T - - GNAT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.904C>T r.(?) p.(Gln302*) Both (homozygous) - pathogenic (recessive) g.50232239C>T g.50194806C>T - - GNAT1_000005 unaffected heterozygous carrier daughter PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Carrigan 2016 - M - Ireland - - - - - 1 Johan den Dunnen
+?/. 8 c.963C>A r.(?) p.(Cys321*) Both (homozygous) - likely pathogenic (recessive) g.50232298C>A g.50194865C>A GNAT1 c.963C>A p.(Cys321*) - GNAT1_000026 homozygous PubMed: Mejecase 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease II.1 PubMed: Mejecase 2016 - M - France French / Italian - - - - 1 LOVD
?/. - c.986A>C r.(?) p.(Lys329Thr) Unknown - VUS g.50232321A>C - GNAT1(NM_144499.2):c.986A>C (p.K329T) - GNAT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1041dup r.(?) p.(Gly348Trpfs*86) Unknown - VUS g.50232376dup - GNAT1(NM_144499.3):c.1041dupT (p.G348Wfs*86) - GNAT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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