GJA1 — 369 ClinVar variants
All ClinVar germline GJA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →
30 Pathogenic · 8 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 21 Conflicting · 7 Benign · 5 Benign/Likely benign · 68 Likely benign · 208 Uncertain significance
Full GJA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 173
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GJA1 p.Arg148Gln
Pathogenic/Likely pathogenic
Multiple submitters
oculodentodigital dysplasia
-
GJA1 p.Tyr98Cys
Likely pathogenic
No assertion criteria
GJA1-related disorder
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GJA1 p.Arg202Cys
Conflicting
Single submitter
GJA1-related disorder
-
GJA1 p.Arg202His
Conflicting
Single submitter
GJA1-related disorders
-
GJA1 p.Arg239Gln
Conflicting
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly242Arg
Conflicting
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser255Asn
Conflicting
Single submitter
hypoplastic left heart syndrome 1
-
GJA1 p.Ser272Pro
Conflicting
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Val236Ile
Conflicting
Single submitter
hypoplastic left heart syndrome 1
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
GJA1 p.Arg153Ter
Conflicting
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg189fs
Conflicting
Single submitter
oculodentodigital dysplasia
Predictors lean, ClinVar uncertain 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GJA1 p.Ala168Thr
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ala276Thr
Uncertain significance
Multiple submitters
oculodentodigital dysplasia
-
GJA1 p.Ala323Val
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg299His
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg33Gln
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg376Trp
Uncertain significance
Multiple submitters
GJA1-related disorder
-
GJA1 p.Asn55Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Asp336Val
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asp339Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Gly252Asp
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.His248Arg
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ile156Val
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ile176Val
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Leu106Pro
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Leu170Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Leu278Phe
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Leu347Ile
Uncertain significance
Multiple submitters
autosomal dominant palmoplantar keratoderma and congenital alopecia
-
GJA1 p.Lys188Arg
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Lys287Arg
Uncertain significance
Multiple submitters
oculodentodigital dysplasia
-
GJA1 p.Lys345Glu
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser182Asn
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser244Arg
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser262Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Ser296Pro
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Thr290Ala
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ala168Gly
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ala249Val
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ala371Thr
Uncertain significance
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Ala371Val
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg319Gln
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg53His
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asn122Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asn295Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asn300Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Asn302Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asn329Asp
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asn63His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Asn63Lys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Asp245Asn
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Asp245His Uncertain significance Single submitter
-
GJA1 p.Asp339Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Gln117Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Gln333Lys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gln57Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Gln58Lys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Glu227Gly
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Glu227Val Uncertain significance Single submitter
-
GJA1 p.Gly149Arg
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Gly252Ser Uncertain significance Single submitter
- GJA1 p.Ile176Asn Uncertain significance Single submitter
-
GJA1 p.Ile176Met
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ile226Val
Uncertain significance
Single submitter
GJA1-related disorder
-
GJA1 p.Ile31Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Leu214Pro Uncertain significance Single submitter
-
GJA1 p.Leu221Met
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Leu228Arg
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Leu254Pro
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Leu356Ile Uncertain significance Single submitter
-
GJA1 p.Lys128Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Lys237Asn
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Lys303Arg
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Met125Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Pro246Thr
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Pro274Gln Uncertain significance Single submitter
-
GJA1 p.Pro280Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Pro334Ala Uncertain significance Single submitter
-
GJA1 p.Pro334Leu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Pro377Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Ser180Ile
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Ser18Thr Uncertain significance Single submitter
-
GJA1 p.Ser273Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Ser279Leu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser306Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Ser330Cys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser344Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Ser372Gly
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser373Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Thr118Ile
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Thr250Ala
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Trp25Arg Uncertain significance Single submitter
- GJA1 p.Trp78Cys Uncertain significance Single submitter
-
GJA1 p.Trp78Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Tyr66Cys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val121Ile
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Val196Leu Uncertain significance Single submitter
-
GJA1 p.Val196Met
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val219Ala
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val219Leu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val240Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Val240Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Val359Met
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val99Glu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Leu127Ser
Uncertain significance
No assertion criteria
GJA1-related disorder
Predictors split 69
The independent predictors disagree with each other — read with care.
-
GJA1 p.Ala40Val
Pathogenic
Multiple submitters
oculodentodigital dysplasia
-
GJA1 p.Ala44Val
Pathogenic/Likely pathogenic
Multiple submitters
erythrokeratodermia variabilis et progressiva 3
-
GJA1 p.Arg153Gln
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg299Cys
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg299Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Asp292Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Asp379Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJA1 p.Cys298Tyr
Uncertain significance
Multiple submitters
syndactyly type 3
-
GJA1 p.Gly138Asp
Pathogenic
Multiple submitters
oculodentodigital dysplasia
-
GJA1 p.Gly138Ser
Pathogenic
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly321Val
Uncertain significance
Multiple submitters
Atrioventricular septal defect and common atrioventricular junction
-
GJA1 p.Lys102Met
Uncertain significance
Multiple submitters
autosomal dominant palmoplantar keratoderma and congenital alopecia
-
GJA1 p.Met320Arg
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Phe84Leu
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Tyr230Cys
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val215Met
Uncertain significance
Multiple submitters
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Ala16Gly Uncertain significance Single submitter
- GJA1 p.Ala16Pro Uncertain significance Single submitter
-
GJA1 p.Arg101Gln
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg148Gly
Likely pathogenic
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg299Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg362Gln
Conflicting
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Arg376Gln
Conflicting
Single submitter
erythrokeratodermia variabilis et progressiva 3
-
GJA1 p.Asn294Lys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Glu227Asp
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Glu352Val
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Glu62Lys
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly138Val
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly21Arg
Pathogenic
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly321Glu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly324Glu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly38Ala
Likely pathogenic
Single submitter
Inborn genetic diseases
-
GJA1 p.Gly46Ala
Uncertain significance
Single submitter
autosomal dominant palmoplantar keratoderma and congenital alopecia
-
GJA1 p.His95Arg
Conflicting
Single submitter
GJA1-related disorders
-
GJA1 p.His95Tyr
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ile139Asn
Likely pathogenic
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Ile31Met
Pathogenic
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Lys102Asn
Pathogenic
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Lys133Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Lys134Asn
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Lys13Glu Uncertain significance Single submitter
-
GJA1 p.Lys287Asn
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Lys68Glu Uncertain significance Single submitter
-
GJA1 p.Met147Thr
Pathogenic
Single submitter
Anteverted nares
-
GJA1 p.Phe161Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome 1
-
GJA1 p.Phe165Leu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Phe165Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Phe212Ile
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Phe229Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJA1 p.Phe268Ser
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Phe97Leu
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Ser163Cys
Uncertain significance
Single submitter
craniometaphyseal dysplasia, autosomal recessive
-
GJA1 p.Ser86Thr
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Thr326Ile
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Thr39Ile
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Tyr137Cys
Uncertain significance
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Val123Met
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
- GJA1 p.Val145Ala Uncertain significance Single submitter
-
GJA1 p.Val145Met
Uncertain significance
Single submitter
Atrioventricular septal defect and common atrioventricular junction
- GJA1 p.Val215Leu Uncertain significance Single submitter
-
GJA1 p.Val216Leu
Pathogenic
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Val219Met
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val41Leu
Likely pathogenic
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val79Ile
Likely pathogenic
Single submitter
oculodentodigital dysplasia
-
GJA1 p.Val96Ala
Uncertain significance
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Val96Met
Pathogenic
Single submitter
oculodentodigital dysplasia, autosomal recessive
-
GJA1 p.Gly143Ser
Pathogenic
No assertion criteria
syndactyly type 3
-
GJA1 p.His74Pro
Likely pathogenic
No assertion criteria
GJA1-related disorder
-
GJA1 p.Tyr17Ser
Pathogenic
No assertion criteria
oculodentodigital dysplasia
All GJA1 variants
Pathogenic 30
- p.Ala40Val Multiple submitters oculodentodigital dysplasia ⚠
- p.Gly138Asp Multiple submitters oculodentodigital dysplasia ⚠
- p.Gly138Ser Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn63Asp Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Cys260fs Single submitter oculodentodigital dysplasia
- p.Glu227Gln Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly21Arg Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly22Arg Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile130Thr Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile31Met Single submitter oculodentodigital dysplasia ⚠
- p.Leu11His Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Lys102Asn Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Met147Thr Single submitter Anteverted nares ⚠
- p.Ser18Ter Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser201Phe Single submitter oculodentodigital dysplasia
- p.Thr154Ala Single submitter Inborn genetic diseases
- p.Thr154Ile Single submitter
- p.Val216Leu Single submitter oculodentodigital dysplasia ⚠
- p.Val96Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg33Ter No assertion criteria oculodentodigital dysplasia, autosomal recessive
- p.Arg76His No assertion criteria oculodentodigital dysplasia, autosomal recessive
- p.Gly143Ser No assertion criteria syndactyly type 3 ⚠
- p.Gly8Val No assertion criteria autosomal dominant palmoplantar keratoderma and congenital alopecia
- p.His194Pro No assertion criteria oculodentodigital dysplasia
- p.Leu11Phe No assertion criteria oculodentodigital dysplasia
- p.Leu11Pro No assertion criteria oculodentodigital dysplasia
- p.Lys206Arg No assertion criteria oculodentodigital dysplasia
- p.Phe52dup No assertion criteria oculodentodigital dysplasia
- p.Ser18Pro No assertion criteria oculodentodigital dysplasia
- p.Tyr17Ser No assertion criteria oculodentodigital dysplasia ⚠
Pathogenic/Likely pathogenic 8
- p.Ala44Val Multiple submitters erythrokeratodermia variabilis et progressiva 3 ⚠
- p.Arg148Gln Multiple submitters oculodentodigital dysplasia ⚠
- p.Arg76Ser Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Asp47Val Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Glu48Lys Multiple submitters oculodentodigital dysplasia
- p.Gly22Glu Multiple submitters oculodentodigital dysplasia
- p.Gly38Glu Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Trp25Cys Multiple submitters Inborn genetic diseases
Likely pathogenic 22
- p.Arg148Gly Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg76Cys Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly38Ala Single submitter Inborn genetic diseases ⚠
- p.Gly60Ala Single submitter oculodentodigital dysplasia
- p.His331fs Single submitter
- p.Ile132_Lys133delinsMet Single submitter Atrioventricular septal defect and common atrioventricular junction
- p.Ile139Asn Single submitter oculodentodigital dysplasia ⚠
- p.Ile82Met Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Lys146_Met147del Single submitter oculodentodigital dysplasia
- p.Lys162Asn Single submitter Edema of the dorsum of feet
- p.Pro193Ala Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Pro59Ser Single submitter GJA1-related disorders
- p.Ser220Phe Single submitter oculodentodigital dysplasia
- p.Thr154Asn Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Thr154Pro Single submitter oculodentodigital dysplasia
- p.Tyr230Ter Single submitter oculodentodigital dysplasia
- p.Tyr66His Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val41Leu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val79Ile Single submitter oculodentodigital dysplasia ⚠
- p.His74Pro No assertion criteria GJA1-related disorder ⚠
- p.Ser201Tyr No assertion criteria oculodentodigital dysplasia
- p.Tyr98Cys No assertion criteria GJA1-related disorder ⚠
Conflicting classifications of pathogenicity 21
- c.-135C>T Single submitter oculodentodigital dysplasia
- c.-16-12T>A Single submitter oculodentodigital dysplasia
- c.-67C>G Single submitter oculodentodigital dysplasia
- c.*119T>C Single submitter oculodentodigital dysplasia
- c.*243A>G Single submitter hypoplastic left heart syndrome 1
- c.*498G>A Single submitter hypoplastic left heart syndrome 1
- p.Arg153Ter Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg189fs Single submitter oculodentodigital dysplasia ⚠
- p.Arg202Cys Single submitter GJA1-related disorder ⚠
- p.Arg202His Single submitter GJA1-related disorders ⚠
- p.Arg239Gln Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg362Gln Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg376= Single submitter hypoplastic left heart syndrome 1
- p.Arg376Gln Single submitter erythrokeratodermia variabilis et progressiva 3 ⚠
- p.Gly242Arg Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.His95Arg Single submitter GJA1-related disorders ⚠
- p.Leu152= Single submitter oculodentodigital dysplasia
- p.Leu90= Single submitter oculodentodigital dysplasia
- p.Ser255Asn Single submitter hypoplastic left heart syndrome 1 ⚠
- p.Ser272Pro Single submitter oculodentodigital dysplasia ⚠
- p.Val236Ile Single submitter hypoplastic left heart syndrome 1 ⚠
Benign 7
- c.*173G>A Multiple submitters oculodentodigital dysplasia
- c.*3dup Multiple submitters oculodentodigital dysplasia, autosomal recessive
- c.-17+50C>T Single submitter
- c.-17+93T>G Single submitter
- c.*1322A>T Single submitter hypoplastic left heart syndrome 1
- c.*968T>C Single submitter hypoplastic left heart syndrome 1
- p.Cys260= Single submitter
Benign/Likely benign 5
- p.Ala253Val Multiple submitters oculodentodigital dysplasia
- p.Arg239= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Glu103= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Ser279= Multiple submitters syndactyly type 3
- p.Thr204= Multiple submitters oculodentodigital dysplasia
Likely benign 68
- p.Ala249= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Ala253= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Ala323= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Arg366= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Asp119= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Lys109= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Lys144= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Pro277= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Pro284= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Ser5= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Thr275= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Tyr137= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Tyr230= Multiple submitters oculodentodigital dysplasia, autosomal recessive
- c.-16-12T>C Single submitter
- p.Ala16= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ala332= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ala40= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ala6= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Arg101= Single submitter
- p.Arg202= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Arg33= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Arg76= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn122= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn295= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn302= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn309= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn318= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn63= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asp245= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Cys54= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Glu110= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Glu131= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Glu352= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly150= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly2= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly22= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly350= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly60= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile164= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile176= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile208= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile211= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile382= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile83= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu171= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu218= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu223= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu35= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Lys68= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Phe135= Single submitter
- p.Pro355= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Pro88= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser163= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser217= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser27= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser314= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser344= Single submitter
- p.Ser50= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ser73= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Thr250Ser Single submitter
- p.Thr39= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Tyr98= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val123= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val167= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val184= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val215= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val289= Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val64= Single submitter oculodentodigital dysplasia, autosomal recessive
Uncertain significance 208
- p.Ala168Thr Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ala276Thr Multiple submitters oculodentodigital dysplasia ⚠
- p.Ala311fs Multiple submitters hypoplastic left heart syndrome 1
- p.Ala323Val Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg153Gln Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg299Cys Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg299His Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg299Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg33Gln Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg370Cys Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Arg376Trp Multiple submitters GJA1-related disorder ⚠
- p.Asn318His Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Asn55Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp292Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp336Val Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asp339Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp378Asn Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Asp379Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys298Tyr Multiple submitters syndactyly type 3 ⚠
- p.Gly252Asp Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly321Val Multiple submitters Atrioventricular septal defect and common atrioventricular junction ⚠
- p.His248Arg Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.His331Leu Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Ile156Val Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ile176Val Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ile327Met Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Leu106Pro Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Leu170Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu278Phe Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Leu347Ile Multiple submitters autosomal dominant palmoplantar keratoderma and congenital alopecia ⚠
- p.Lys102Met Multiple submitters autosomal dominant palmoplantar keratoderma and congenital alopecia ⚠
- p.Lys188Arg Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Lys287Arg Multiple submitters oculodentodigital dysplasia ⚠
- p.Lys345Glu Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Met320Arg Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Phe84Leu Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser182Asn Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser244Arg Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser262Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser296Pro Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser297del Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Ser368Asn Multiple submitters oculodentodigital dysplasia, autosomal recessive
- p.Thr290Ala Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Tyr230Cys Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val215Met Multiple submitters oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val240Asn Multiple submitters oculodentodigital dysplasia, autosomal recessive
- c.-161G>T Single submitter oculodentodigital dysplasia
- c.-188G>T Single submitter oculodentodigital dysplasia
- c.-197T>G Single submitter hypoplastic left heart syndrome 1
- c.-87C>T Single submitter hypoplastic left heart syndrome 1
- c.*1043T>C Single submitter hypoplastic left heart syndrome 1
- c.*1077T>C Single submitter hypoplastic left heart syndrome 1
- c.*1101T>C Single submitter hypoplastic left heart syndrome 1
- c.*1143T>G Single submitter hypoplastic left heart syndrome 1
- c.*1204A>G Single submitter hypoplastic left heart syndrome 1
- c.*1252A>G Single submitter hypoplastic left heart syndrome 1
- c.*1334T>C Single submitter hypoplastic left heart syndrome 1
- c.*163G>A Single submitter hypoplastic left heart syndrome 1
- c.*191G>A Single submitter hypoplastic left heart syndrome 1
- c.*212A>T Single submitter hypoplastic left heart syndrome 1
- c.*214G>A Single submitter hypoplastic left heart syndrome 1
- c.*285A>T Single submitter hypoplastic left heart syndrome 1
- c.*301C>T Single submitter syndactyly type 3
- c.*444A>G Single submitter hypoplastic left heart syndrome 1
- c.*47A>G Single submitter oculodentodigital dysplasia
- c.*521G>C Single submitter hypoplastic left heart syndrome 1
- c.*529C>G Single submitter hypoplastic left heart syndrome 1
- c.*538G>A Single submitter hypoplastic left heart syndrome 1
- c.*635C>T Single submitter hypoplastic left heart syndrome 1
- c.*694T>C Single submitter hypoplastic left heart syndrome 1
- c.*750G>A Single submitter hypoplastic left heart syndrome 1
- c.*832C>G Single submitter hypoplastic left heart syndrome 1
- c.*888C>A Single submitter syndactyly type 3
- c.*926A>T Single submitter hypoplastic left heart syndrome 1
- c.*992G>A Single submitter hypoplastic left heart syndrome 1
- p.Ala168Gly Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ala16Gly Single submitter ⚠
- p.Ala16Pro Single submitter ⚠
- p.Ala249Val Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ala305fs Single submitter
- p.Ala315_Glu316insTyrSerAla Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ala371Thr Single submitter oculodentodigital dysplasia ⚠
- p.Ala371Val Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ala40del Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ala51Gly Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Arg101Gln Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg299Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg319Gln Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Arg362Ter Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Arg53His Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn122Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn294Lys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn295Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn300Ser Single submitter Inborn genetic diseases ⚠
- p.Asn302Asp Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn302Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn329Asp Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asn55Ter Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asn63His Single submitter Inborn genetic diseases ⚠
- p.Asn63Lys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asp238Tyr Single submitter hypoplastic left heart syndrome 1
- p.Asp245Asn Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Asp245His Single submitter ⚠
- p.Asp292Gly Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Asp339Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp379_Leu380insAsp Single submitter
- p.Asp67= Single submitter
- p.Cys65= Single submitter
- p.Gln117Glu Single submitter Inborn genetic diseases ⚠
- p.Gln333Lys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gln57Arg Single submitter Inborn genetic diseases ⚠
- p.Gln58Lys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Glu110Lys Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Glu227Asp Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Glu227Gly Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Glu227Val Single submitter ⚠
- p.Glu307fs Single submitter
- p.Glu352Val Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Glu381Ala Single submitter GJA1-related disorder
- p.Glu62Lys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly120Ala Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Gly138Val Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly149Arg Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly252Ser Single submitter ⚠
- p.Gly321Glu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly324Glu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Gly46Ala Single submitter autosomal dominant palmoplantar keratoderma and congenital alopecia ⚠
- p.His331Arg Single submitter Inborn genetic diseases
- p.His95Tyr Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ile156fs Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Ile176Asn Single submitter ⚠
- p.Ile176Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ile226Val Single submitter GJA1-related disorder ⚠
- p.Ile31Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ile327Ala Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu214Pro Single submitter ⚠
- p.Leu221Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Leu228Arg Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Leu228Phe Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu254Pro Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Leu356Ile Single submitter ⚠
- p.Leu37fs Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Lys128Arg Single submitter Inborn genetic diseases ⚠
- p.Lys133Glu Single submitter Inborn genetic diseases ⚠
- p.Lys134Asn Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Lys13Glu Single submitter ⚠
- p.Lys144Ter Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Lys237Asn Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Lys287Asn Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Lys303Arg Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Lys68Glu Single submitter ⚠
- p.Met125Val Single submitter Inborn genetic diseases ⚠
- p.Phe161Leu Single submitter hypoplastic left heart syndrome 1 ⚠
- p.Phe165Leu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Phe165Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Phe212Ile Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Phe229Leu Single submitter Inborn genetic diseases ⚠
- p.Phe268Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Phe97Leu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Pro246Thr Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Pro274Gln Single submitter ⚠
- p.Pro280Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Pro284del Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Pro284Leu Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Pro334Ala Single submitter ⚠
- p.Pro334Leu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Pro377Ser Single submitter Inborn genetic diseases ⚠
- p.Ser163Cys Single submitter craniometaphyseal dysplasia, autosomal recessive ⚠
- p.Ser180Ile Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser18Thr Single submitter ⚠
- p.Ser273Leu Single submitter Inborn genetic diseases ⚠
- p.Ser279Leu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser306Asn Single submitter Inborn genetic diseases ⚠
- p.Ser330Cys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser344Cys Single submitter Inborn genetic diseases ⚠
- p.Ser372Gly Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ser373Thr Single submitter Inborn genetic diseases ⚠
- p.Ser43= Single submitter syndactyly type 3
- p.Ser86Thr Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Ter383Gln Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Thr118Ile Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Thr250Ala Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Thr326Ile Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Thr39Ile Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Trp25Arg Single submitter ⚠
- p.Trp78Cys Single submitter ⚠
- p.Trp78Ser Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Tyr137Cys Single submitter oculodentodigital dysplasia ⚠
- p.Tyr230fs Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Tyr66Cys Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val121Ile Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val123Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val145Ala Single submitter ⚠
- p.Val145Met Single submitter Atrioventricular septal defect and common atrioventricular junction ⚠
- p.Val196Leu Single submitter ⚠
- p.Val196Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val215Leu Single submitter ⚠
- p.Val219Ala Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val219Leu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val219Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val240Asp Single submitter Inborn genetic diseases ⚠
- p.Val240Ile Single submitter Inborn genetic diseases ⚠
- p.Val359Met Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val41_Ala44del Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Val96Ala Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val99Glu Single submitter oculodentodigital dysplasia, autosomal recessive ⚠
- p.Val99Met Single submitter oculodentodigital dysplasia, autosomal recessive
- p.Leu127Ser No assertion criteria GJA1-related disorder ⚠