Full data view for gene GJA1

Information The variants shown are described using the NM_000165.3 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     
-/. - c.-16-12T>A r.(=) p.(=) Unknown - benign g.121767966T>A g.121446820T>A - - GJA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16G>A r.(?) p.(Ala6Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16G>A r.(?) p.(Ala6Thr) Unknown - pathogenic g.121768009G>A - GJA1(NM_000165.5):c.16G>A (p.A6T) - GJA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.40G>A r.(?) p.(Val14Ile) Unknown - pathogenic g.121768033G>A g.121446887G>A - - GJA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.52T>C r.(?) p.(Ser18Pro) Unknown - likely pathogenic g.121768045T>C g.121446899T>C - - GJA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.68A>T r.(?) p.(Lys23Met) Unknown - pathogenic g.121768061A>T g.121446915A>T - - GJA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.75G>C r.(?) p.(Trp25Cys) Unknown - pathogenic g.121768068G>C g.121446922G>C - - GJA1_000031 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.91A>T r.(?) p.(Ile31Phe) Unknown - likely pathogenic g.121768084A>T g.121446938A>T c.91A>T, p.(Ile31Phe) - GJA1_000036 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes ODDD 14914 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.119C>T r.(?) p.(Ala40Val) Unknown - pathogenic g.121768112C>T g.121446966C>T - - GJA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124G>C r.(?) p.(Glu42Gln) Unknown - pathogenic g.121768117G>C g.121446971G>C - - GJA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.125A>G r.(?) p.(Glu42Gly) Unknown ACMG pathogenic g.121768118A>G - - - GJA1_000033 - - - - Germline yes - - - - DNA SEQ - - ? GJA1 - - - - Saudi Arabia - - - - - 1 Muhammad Umair
?/. - c.187A>G r.(?) p.(Asn63Asp) Unknown - VUS g.121768180A>G g.121447034A>G - - GJA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189T>C r.(?) p.(Asn63=) Unknown - likely benign g.121768182T>C - GJA1(NM_000165.5):c.189T>C (p.N63=) - GJA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293A>G r.(?) p.(Tyr98Cys) Unknown - pathogenic g.121768286A>G g.121447140A>G - - GJA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.330G>C r.(?) p.(Glu110Asp) Unknown - likely pathogenic g.121768323G>C g.121447177G>C - - GJA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.389T>C r.(?) p.(Ile130Thr) Unknown - pathogenic g.121768382T>C g.121447236T>C - - GJA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.413G>A r.(?) p.(Gly138Asp) Unknown - pathogenic g.121768406G>A g.121447260G>A - - GJA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.416T>C r.(?) p.(Ile139Thr) Unknown - likely pathogenic g.121768409T>C g.121447263T>C GJA1(NM_000165.5):c.416T>C (p.I139T) - GJA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441G>T r.(?) p.(Met147Ile) Unknown - VUS g.121768434G>T - GJA1(NM_000165.5):c.441G>T (p.(Met147Ile)) - GJA1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.443G>A r.(?) p.(Arg148Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.443G>A r.(?) p.(Arg148Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.460A>G r.(?) p.(Thr154Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>T r.(?) p.(Ser180=) Unknown - likely benign g.121768533C>T - GJA1(NM_000165.5):c.540C>T (p.S180=) - GJA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.605G>A r.(?) p.(Arg202His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.605G>A r.(?) p.(Arg202His) Unknown - pathogenic g.121768598G>A - GJA1(NM_000165.5):c.605G>A (p.R202H) - GJA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.617A>G r.(?) p.(Lys206Arg) Unknown - likely pathogenic g.121768610A>G g.121447464A>G - - GJA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670A>C r.(?) p.(Asn224His) Unknown - VUS g.121768663A>C g.121447517A>C - - GJA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.717G>A r.(?) p.(Arg239=) Unknown - benign g.121768710G>A g.121447564G>A GJA1(NM_000165.5):c.717G>A (p.R239=, p.(Arg239=)) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.717G>A r.(?) p.(Arg239=) Unknown - benign g.121768710G>A g.121447564G>A GJA1(NM_000165.5):c.717G>A (p.R239=, p.(Arg239=)) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.717G>A r.(?) p.(Arg239=) Unknown - benign g.121768710G>A g.121447564G>A GJA1(NM_000165.5):c.717G>A (p.R239=, p.(Arg239=)) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717G>A r.(=) p.(=) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 186 Mohammed Faruq
-?/. - c.717G>A r.(=) p.(=) Both (homozygous) - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.717G>A r.(?) p.(Arg239=) Unknown - likely benign g.121768710G>A - GJA1(NM_000165.5):c.717G>A (p.R239=, p.(Arg239=)) - GJA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724G>A r.(?) p.(Gly242Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724G>A r.(?) p.(Gly242Arg) Unknown - VUS g.121768717G>A - GJA1(NM_000165.5):c.724G>A (p.G242R) - GJA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733G>A r.(?) p.(Asp245Asn) Unknown - likely benign g.121768726G>A - GJA1(NM_000165.3):c.733G>A (p.(Asp245Asn)) - GJA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743A>G r.(?) p.(His248Arg) Unknown - VUS g.121768736A>G - GJA1(NM_000165.5):c.743A>G (p.H248R) - GJA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744T>C r.(?) p.(His248=) Unknown - likely benign g.121768737T>C - GJA1(NM_000165.5):c.744T>C (p.H248=) - GJA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.758C>T r.(?) p.(Ala253Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758C>T r.(?) p.(Ala253Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.780T>G r.(?) p.(Cys260Trp) Unknown - VUS g.121768773T>G g.121447627T>G GJA1(NM_000165.5):c.780T>G (p.C260W, p.(Cys260Trp)) - GJA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.780T>G r.(?) p.(Cys260Trp) Unknown - VUS g.121768773T>G - GJA1(NM_000165.5):c.780T>G (p.C260W, p.(Cys260Trp)) - GJA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(Thr275=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.826G>A r.(?) p.(Ala276Thr) Unknown - VUS g.121768819G>A - GJA1(NM_000165.5):c.826G>A (p.(Ala276Thr)) - GJA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831C>T r.(?) p.(Pro277=) Unknown - likely benign g.121768824C>T - GJA1(NM_000165.5):c.831C>T (p.P277=) - GJA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.868A>G r.(?) p.(Thr290Ala) Unknown - VUS g.121768861A>G - GJA1(NM_000165.5):c.868A>G (p.T290A) - GJA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885T>C r.(?) p.(Asn295=) Unknown - likely benign g.121768878T>C - GJA1(NM_000165.5):c.885T>C (p.N295=) - GJA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899A>G r.(?) p.(Asn300Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012C>T r.(?) p.(Pro338Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039C>A r.(?) p.(Leu347Ile) Unknown - likely benign g.121769032C>A - GJA1(NM_000165.5):c.1039C>A (p.L347I) - GJA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109G>A r.(?) p.(Arg370His) Unknown - likely benign g.121769102G>A - GJA1(NM_000165.3):c.1109G>A (p.(Arg370His)) - GJA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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