Full data view for gene GJA3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_021954.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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     
?/. 2 c.5G>A r.(?) p.(Gly2Asp) Maternal (inferred) - VUS g.20717423C>T g.20143284C>T - - GJA3_000001 - - - - Germline - - - - - DNA arraySEQ - - CTRCT - - - M - (China) - - - - - 1 Ke Yao
+/. - c.32T>C r.(?) p.(Leu11Ser) Parent #1 - pathogenic (dominant) g.20717396A>G - - - GJA3_000034 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT CC00103 PubMed: Hansen 2009 family - - Denmark - - - - - 1 Johan den Dunnen
?/. - c.48G>T r.(?) p.(Glu16Asp) Unknown - VUS g.20717380C>A - GJA3(NM_021954.4):c.48G>T (p.E16D) - GJA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.56C>T r.(?) p.(Thr19Met) Unknown - pathogenic g.20717372G>A g.20143233G>A GJA3(NM_021954.4):c.56C>T (p.T19M) - GJA3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82G>A r.(?) p.(Val28Met) Paternal (confirmed) - pathogenic (dominant) g.20717346C>T g.20143207C>T - - GJA3_000038 - PubMed: Jiao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam97004Pat5 PubMed: Jiao 2022 4-generation family, 4 affected (3F, M) F - Ukraine - - - - - 4 Johan den Dunnen
+/. - c.82G>A r.(?) p.(Val28Met) Maternal (confirmed) - pathogenic (dominant) g.20717346C>T g.20143207C>T - - GJA3_000038 - PubMed: Jiao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam97004Pat7 PubMed: Jiao 2022 daughter F - Ukraine - - - - - 1 Johan den Dunnen
?/. - c.129C>A r.(?) p.(Asp43Glu) Unknown - VUS g.20717299G>T - GJA3(NM_021954.4):c.129C>A (p.D43E) - GJA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.130G>A r.(?) p.(Val44Met) Unknown - pathogenic (dominant) g.20717298C>T g.20143159C>T - - GJA3_000037 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC7PatIV1 PubMed: Zhang 2018 4-generation family, 7 affected (5F, 2M) F - China - - - - - 7 Johan den Dunnen
?/. - c.139G>A r.(?) p.(Asp47Asn) Unknown - VUS g.20717289C>T g.20143150C>T - - GJA3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.148T>C r.(?) p.(Ser50Pro) Parent #1 - likely pathogenic g.20717280A>G g.20143141A>G - - GJA3_000004 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother, grandmother, great grandmother, 3 maternal aunts M no - - - - - - 6 Johan den Dunnen
+?/. - c.148T>C r.(?) p.(Ser50Pro) Unknown ACMG likely pathogenic g.20717280A>G g.20143141A>G GJA3 c.148T>C p.(Ser50Pro) het - GJA3_000004 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15019910 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.148T>C r.(?) p.(Ser50Pro) Unknown ACMG likely pathogenic g.20717280A>G g.20143141A>G GJA3 c.148T>C p.(Ser50Pro) het - GJA3_000004 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17008393 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 2 c.176C>T r.(?) p.(Pro59Leu) Parent #1 - pathogenic g.20717252G>A g.20143113G>A - - GJA3_000003 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected brother F no - - - - - - 2 Johan den Dunnen
+/. - c.176C>T r.(?) p.(Pro59Leu) Maternal (confirmed) - pathogenic (dominant) g.20717252G>A - - - GJA3_000003 - PubMed: Hansen 2009 - - Germline yes - - - - DNA SEQ - - CTRCT CC00129 PubMed: Hansen 2009 3-generation family, 3 affected (3F) F - Denmark - - - - - 3 Johan den Dunnen
+?/. 2 c.184G>A r.(?) p.(Glu62Lys) Parent #1 - likely pathogenic g.20717244C>T g.20143105C>T - - GJA3_000005 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected 2 has affected children F yes - - - - - - 3 Johan den Dunnen
?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - VUS g.20717244C>T - GJA3(NM_021954.4):c.184G>A (p.E62K) - GJA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190G>A r.(?) p.(Val64Ile) Unknown - VUS g.20717238C>T - GJA3(NM_021954.4):c.190G>A (p.V64I) - GJA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.197A>G r.(?) p.(Tyr66Cys) Unknown - likely pathogenic g.20717231T>C g.20143092T>C - - GJA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.199G>C r.(?) p.(Asp67His) Unknown - likely pathogenic g.20717229C>G g.20143090C>G GJA3(NM_021954.3):c.199G>C(p.D67H) - GJA3_000032 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 102 - - - DNA SEQ-NG-I blood - ? WHP2 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. - c.199G>C r.(?) p.(Asp67His) Unknown - likely pathogenic g.20717229C>G g.20143090C>G GJA3(NM_021954.3):c.199G>C(p.D67H) - GJA3_000032 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 103 - - - DNA SEQ-NG-I blood - ? WHP3 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+/. - c.227G>A r.(?) p.(Arg76His) Parent #1 - pathogenic (dominant) g.20717201C>T - - - GJA3_000033 - PubMed: Hansen 2009 - - Germline yes - - - - DNA SEQ - - CTRCT CC00162 PubMed: Hansen 2009 5-generation family, 9 affected (6F, 3M) F;M - Denmark - - - - - 9 Johan den Dunnen
+?/. - c.227G>T r.(?) p.(Arg76Leu) Unknown - likely pathogenic g.20717201C>A - GJA3(NM_021954.3):c.227G>T (p.R76L) - GJA3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231C>T r.(?) p.(Phe77=) Unknown - likely benign g.20717197G>A g.20143058G>A GJA3(NM_021954.3):c.231C>T (p.F77=) - GJA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.318_320del r.(?) p.(Lys107del) Unknown - VUS g.20717115_20717117del g.20142976_20142978del GJA3(NM_021954.3):c.318_320delGAA (p.K107del) - GJA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375A>G r.(?) p.(Pro125=) Unknown - benign g.20717053T>C g.20142914T>C GJA3(NM_021954.3):c.375A>G (p.P125=) - GJA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395C>T r.(?) p.(Ser132Leu) Unknown - likely benign g.20717033G>A - GJA3(NM_021954.3):c.395C>T (p.S132L) - GJA3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398G>A r.(?) p.(Arg133Gln) Unknown - likely benign g.20717030C>T g.20142891C>T GJA3(NM_021954.3):c.398G>A (p.R133Q, p.(Arg133Gln)) - GJA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398G>A r.(?) p.(Arg133Gln) Unknown - likely benign g.20717030C>T g.20142891C>T GJA3(NM_021954.3):c.398G>A (p.R133Q, p.(Arg133Gln)) - GJA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.427G>A r.(?) p.(Gly143Arg) Unknown - pathogenic g.20717001C>T - GJA3(NM_021954.4):c.427G>A (p.G143R) - GJA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.428G>T r.(?) p.(Gly143Val) Unknown - likely pathogenic g.20717000C>A g.20142861C>A - - GJA3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.543C>T r.(=) p.(=) Parent #1 - benign g.20716885G>A g.20142746G>A - - GJA3_000024 37 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74607195 Germline - 37/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
+?/. 2 c.578T>C r.(?) p.(Phe193Ser) Parent #1 - likely pathogenic g.20716850A>G g.20142711A>G - - GJA3_000002 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected daughter M no - - - - - - 2 Johan den Dunnen
?/. - c.584C>T r.(?) p.(Ser195Phe) Unknown - VUS g.20716844G>A g.20142705G>A GJA3(NM_021954.3):c.584C>T (p.S195F) - GJA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.595G>A r.(?) p.(Glu199Lys) Maternal (confirmed) - likely pathogenic (dominant) g.20716833C>T g.20142694C>T - - GJA3_000036 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam10 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+?/. 2 c.596A>C r.(?) p.(Glu199Ala) Parent #1 - likely pathogenic g.20716832T>G g.20142693T>G - - GJA3_000006 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother M no - - - - - - 2 Johan den Dunnen
?/. - c.616T>A r.(?) p.(Phe206Ile) Unknown - VUS g.20716812A>T - GJA3(NM_021954.4):c.616T>A (p.F206I) - GJA3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.727T>C r.(?) p.(Cys243Arg) Both (homozygous) - likely pathogenic g.20716701A>G g.20142562A>G - - GJA3_000007 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 3-generation family, affected son and father F yes - - - - - - 2 Johan den Dunnen
?/. - c.732_752del r.(?) p.(Glu244_Ala250del) Unknown - VUS g.20716680_20716700del - GJA3(NM_021954.3):c.732_752delGGCCCCGCTGGGGACAGCCGA (p.E244_A250del) - GJA3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771C>A r.(?) p.(Pro257=) Unknown - likely benign g.20716657G>T g.20142518G>T GJA3(NM_021954.3):c.771C>A (p.P257=) - GJA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.817_818insATG r.(?) p.(Tyr272_Ala273insAsp) Paternal (confirmed) - likely pathogenic (dominant) g.20716611_20716613dup g.20142472_20142474dup - - GJA3_000035 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam11 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
-/. - c.895C>A r.(?) p.(Leu299Met) Unknown - benign g.20716533G>T g.20142394G>T GJA3(NM_021954.4):c.895C>A (p.L299M) - GJA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.895C>A r.(?) p.(Leu299Met) Both (homozygous) - likely benign g.20716533G>T g.20142394G>T - - GJA3_000010 - PubMed: Li 2019 - rs968566 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
-?/. - c.895C>A r.(?) p.(Leu299Met) Both (homozygous) - likely benign g.20716533G>T g.20142394G>T - - GJA3_000010 - PubMed: Li 2019 - rs968566 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - 3 Johan den Dunnen
-?/. - c.895C>A r.(?) p.(Leu299Met) Both (homozygous) - likely benign g.20716533G>T g.20142394G>T - - GJA3_000010 - PubMed: Li 2019 - rs968566 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
-?/. - c.895C>A r.(?) p.(Leu299Met) Both (homozygous) - likely benign g.20716533G>T g.20142394G>T - - GJA3_000010 - PubMed: Li 2019 - rs968566 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
-?/. - c.895C>A r.(?) p.(Leu299Met) Both (homozygous) - likely benign g.20716533G>T g.20142394G>T - - GJA3_000010 - PubMed: Li 2019 - rs968566 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam5PatIV12 PubMed: Li 2019 6-generation family, 20 affected (9F, 11M) M - China - - - - - 20 Johan den Dunnen
-?/. - c.1083A>C r.(?) p.(Pro361=) Unknown - likely benign g.20716345T>G g.20142206T>G GJA3(NM_021954.3):c.1083A>C (p.P361=) - GJA3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1086C>A r.(?) p.(Leu362=) Unknown - benign g.20716342G>T g.20142203G>T GJA3(NM_021954.3):c.1086C>A (p.L362=) - GJA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1111G>A r.(?) p.(Ala371Thr) Unknown - likely benign g.20716317C>T g.20142178C>T GJA3(NM_021954.3):c.1111G>A (p.A371T) - GJA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>G r.(?) p.(Ala371Gly) Unknown - likely benign g.20716316G>C g.20142177G>C GJA3(NM_021954.3):c.1112C>G (p.A371G) - GJA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1152dup r.(?) p.(Ser385Glufs*83) Unknown - likely pathogenic g.20716279dup g.20142140dup GJA3(NM_021954.3):c.1152_1153insG(p.S385Efs*83) - GJA3_000031 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 138 - - - DNA SEQ-NG-I blood - ? WHP38 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+/. - c.1152dup r.(?) p.(Ser385GlufsTer83) Unknown ACMG pathogenic (dominant) g.20716279dup g.20142140dup 1152_1153insG - GJA3_000031 ACMG PVS1 PP1 PP4 BP4 PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - 3 Johan den Dunnen
?/. - c.1234G>A r.(?) p.(Gly412Arg) Unknown - VUS g.20716194C>T g.20142055C>T GJA3(NM_021954.3):c.1234G>A (p.G412R, p.(Gly412Arg)) - GJA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234G>A r.(?) p.(Gly412Arg) Unknown - likely benign g.20716194C>T g.20142055C>T GJA3(NM_021954.3):c.1234G>A (p.G412R, p.(Gly412Arg)) - GJA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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