All variants in the GJA1 gene

Information The variants shown are described using the NM_000165.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-16-12T>A r.(=) p.(=) - benign g.121767966T>A g.121446820T>A - - GJA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.16G>A r.(?) p.(Ala6Thr) - VUS g.121768009G>A g.121446863G>A GJA1(NM_000165.5):c.16G>A (p.A6T) - GJA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.40G>A r.(?) p.(Val14Ile) - pathogenic g.121768033G>A g.121446887G>A - - GJA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.52T>C r.(?) p.(Ser18Pro) - likely pathogenic g.121768045T>C g.121446899T>C - - GJA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.68A>T r.(?) p.(Lys23Met) - pathogenic g.121768061A>T g.121446915A>T - - GJA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.75G>C r.(?) p.(Trp25Cys) - pathogenic g.121768068G>C g.121446922G>C - - GJA1_000031 - - - - Unknown - - - 0 - IMGAG
+?/. - c.91A>T r.(?) p.(Ile31Phe) - likely pathogenic g.121768084A>T g.121446938A>T c.91A>T, p.(Ile31Phe) - GJA1_000036 heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - LOVD
+/. - c.119C>T r.(?) p.(Ala40Val) - pathogenic g.121768112C>T g.121446966C>T - - GJA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.124G>C r.(?) p.(Glu42Gln) - pathogenic g.121768117G>C g.121446971G>C - - GJA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.125A>G r.(?) p.(Glu42Gly) ACMG pathogenic g.121768118A>G - - - GJA1_000033 - - - - Germline yes - - 0 - Muhammad Umair
?/. - c.187A>G r.(?) p.(Asn63Asp) - VUS g.121768180A>G g.121447034A>G - - GJA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.293A>G r.(?) p.(Tyr98Cys) - pathogenic g.121768286A>G g.121447140A>G - - GJA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.330G>C r.(?) p.(Glu110Asp) - likely pathogenic g.121768323G>C g.121447177G>C - - GJA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.389T>C r.(?) p.(Ile130Thr) - pathogenic g.121768382T>C g.121447236T>C - - GJA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.413G>A r.(?) p.(Gly138Asp) - pathogenic g.121768406G>A g.121447260G>A - - GJA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.416T>C r.(?) p.(Ile139Thr) - VUS g.121768409T>C g.121447263T>C GJA1(NM_000165.5):c.416T>C (p.I139T) - GJA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.443G>A r.(?) p.(Arg148Gln) - likely pathogenic g.121768436G>A g.121447290G>A GJA1(NM_000165.5):c.443G>A (p.R148Q) - GJA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.443G>A r.(?) p.(Arg148Gln) - likely pathogenic g.121768436G>A g.121447290G>A GJA1(NM_000165.5):c.443G>A (p.R148Q) - GJA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.460A>G r.(?) p.(Thr154Ala) - pathogenic g.121768453A>G g.121447307A>G GJA1(NM_000165.5):c.460A>G (p.T154A) - GJA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.605G>A r.(?) p.(Arg202His) - pathogenic g.121768598G>A g.121447452G>A GJA1(NM_000165.5):c.605G>A (p.R202H) - GJA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.605G>A r.(?) p.(Arg202His) - pathogenic g.121768598G>A - GJA1(NM_000165.5):c.605G>A (p.R202H) - GJA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.617A>G r.(?) p.(Lys206Arg) - likely pathogenic g.121768610A>G g.121447464A>G - - GJA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.670A>C r.(?) p.(Asn224His) - VUS g.121768663A>C g.121447517A>C - - GJA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.717G>A r.(?) p.(Arg239=) - benign g.121768710G>A g.121447564G>A GJA1(NM_000165.5):c.717G>A (p.R239=) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.717G>A r.(?) p.(Arg239=) - benign g.121768710G>A g.121447564G>A GJA1(NM_000165.5):c.717G>A (p.R239=) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.717G>A r.(?) p.(Arg239=) - benign g.121768710G>A g.121447564G>A GJA1(NM_000165.5):c.717G>A (p.R239=) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.717G>A r.(=) p.(=) - likely benign g.121768710G>A g.121447564G>A - - GJA1_000002 186 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs57946868 Germline - 186/2795 individuals - 0 - Mohammed Faruq
-?/. - c.717G>A r.(=) p.(=) - likely benign g.121768710G>A g.121447564G>A - - GJA1_000002 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs57946868 Germline - 3/2795 individuals - 0 - Mohammed Faruq
-?/. - c.724G>A r.(?) p.(Gly242Arg) - likely benign g.121768717G>A g.121447571G>A GJA1(NM_000165.5):c.724G>A (p.G242R) - GJA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.744T>C r.(?) p.(His248=) - likely benign g.121768737T>C - GJA1(NM_000165.5):c.744T>C (p.H248=) - GJA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.758C>T r.(?) p.(Ala253Val) - benign g.121768751C>T g.121447605C>T GJA1(NM_000165.3):c.758C>T (p.(Ala253Val)), GJA1(NM_000165.5):c.758C>T (p.A253V) - GJA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.758C>T r.(?) p.(Ala253Val) - likely benign g.121768751C>T g.121447605C>T GJA1(NM_000165.3):c.758C>T (p.(Ala253Val)), GJA1(NM_000165.5):c.758C>T (p.A253V) - GJA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.780T>G r.(?) p.(Cys260Trp) - VUS g.121768773T>G g.121447627T>G GJA1(NM_000165.5):c.780T>G (p.C260W) - GJA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.825C>T r.(?) p.(Thr275=) - likely benign g.121768818C>T g.121447672C>T GJA1(NM_000165.5):c.825C>T (p.T275=) - GJA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.831C>T r.(?) p.(Pro277=) - likely benign g.121768824C>T - GJA1(NM_000165.5):c.831C>T (p.P277=) - GJA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.885T>C r.(?) p.(Asn295=) - likely benign g.121768878T>C - GJA1(NM_000165.5):c.885T>C (p.N295=) - GJA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.899A>G r.(?) p.(Asn300Ser) - VUS g.121768892A>G g.121447746A>G GJA1(NM_000165.5):c.899A>G (p.N300S) - GJA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.932del r.(?) p.(Ala311ValfsTer37) - likely benign g.121768925del g.121447779del GJA1(NM_000165.3):c.932del (p.(Ala311ValfsTer37)) - GJA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1012C>T r.(?) p.(Pro338Ser) - likely benign g.121769005C>T g.121447859C>T GJA1(NM_000165.5):c.1012C>T (p.P338S) - GJA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3dup r.(?) p.(=) - likely benign g.121769145dup g.121447999dup GJA1(NM_000165.5):c.*3dupA, GJA1(NM_000165.5):c.*4delCinsAC - GJA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*3dup r.(?) p.(=) - benign g.121769145dup g.121447999dup GJA1(NM_000165.5):c.*3dupA, GJA1(NM_000165.5):c.*4delCinsAC - GJA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*3dup r.(?) p.(=) - benign g.121769145dup g.121447999dup GJA1(NM_000165.5):c.*3dupA, GJA1(NM_000165.5):c.*4delCinsAC - GJA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query