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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA1
(G60A)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GLikely pathogenic
GJA1
(Y230*)
Single nucleotide variant
(nonsense)
Oculodentodigital dysplasia
GLikely pathogenic
GJA1
(S201F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(K287R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+1 more
GUncertain significance
GJA1
Deletion
(inframe_deletion)
Oculodentodigital dysplasia
GLikely pathogenic
GJA1
(I139N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GLikely pathogenic
GJA1
(L347I)
Single nucleotide variant
(missense variant)
Autosomal dominant palmoplantar keratoderma and congenital alopecia
+9 more
GUncertain significance
GJA1
(S201Y)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GLikely pathogenic
GJA1
(A311fs)
Deletion
(frameshift variant)
Hypoplastic left heart syndrome 1
+7 more
GUncertain significance
GJA1
(E48K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+1 more
GPathogenic/Likely pathogenic
GJA1
(A371T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GUncertain significance
GJA1
(I31M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
Single nucleotide variant
(3 prime UTR variant)
Oculodentodigital dysplasia
+2 more
GUncertain significance
GJA1
(S255N)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome 1
+3 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(synonymous variant)
Syndactyly type 3
+4 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Oculodentodigital dysplasia
+2 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(3 prime UTR variant)
Syndactyly type 3
+2 more
GUncertain significance
GJA1
(D238Y)
Single nucleotide variant
(missense variant)
Syndactyly type 3
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(5 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
(C298Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GJA1
(V236I)
Single nucleotide variant
(missense variant)
Syndactyly type 3
+4 more
GConflicting classifications of pathogenicity
GJA1
(F161L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(5 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
(S296P)
Single nucleotide variant
(missense variant)
Syndactyly type 3
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Syndactyly type 3
+2 more
GUncertain significance
GJA1
(R189fs)
Deletion
(frameshift variant)
Oculodentodigital dysplasia
+1 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome 1
+3 more
GBenign/Likely benign
GJA1
(S272P)
Single nucleotide variant
(missense variant)
GJA1-related disorder
+4 more
GConflicting classifications of pathogenicity
GJA1
Deletion
(inframe_deletion)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(G138D)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+1 more
GPathogenic/Likely pathogenic
GJA1
(V216L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(R148Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJA1
(A40V)
Single nucleotide variant
(missense variant)
Autosomal dominant palmoplantar keratoderma and congenital alopecia
+8 more
GPathogenic
GJA1
(R202H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
Syndactyly
+2 more
GBenign
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GBenign
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Syndactyly type 3
+2 more
GUncertain significance
GJA1
Deletion
(3 prime UTR variant)
Oculodentodigital dysplasia
+2 more
GLikely benign
GJA1
Deletion
(3 prime UTR variant)
Syndactyly
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GBenign
GJA1
Deletion
(3 prime UTR variant)
Syndactyly
+2 more
GUncertain significance
GJA1
Deletion
(3 prime UTR variant)
Syndactyly
+2 more
GUncertain significance
GJA1
Duplication
(3 prime UTR variant)
Syndactyly
+2 more
GLikely benign
GJA1
Duplication
(3 prime UTR variant)
Syndactyly
+2 more
GBenign
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+3 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+3 more
GBenign
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(3 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Syndactyly type 3
+4 more
GConflicting classifications of pathogenicity
GJA1
(D339N)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome 1
+3 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
+4 more
GBenign/Likely benign
GJA1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(intron variant)
Hypoplastic left heart syndrome 1
+3 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(5 prime UTR variant)
Syndactyly type 3
+3 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(5 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GConflicting classifications of pathogenicity
GJA1
Single nucleotide variant
(5 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Single nucleotide variant
(5 prime UTR variant)
Hypoplastic left heart syndrome 1
+2 more
GUncertain significance
GJA1
Duplication
(3 prime UTR variant)
not specified
+5 more
GBenign
GJA1
(A253V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+3 more
GBenign/Likely benign
GJA1
Single nucleotide variant
(synonymous variant)
Syndactyly type 3
+4 more
GBenign/Likely benign
GJA1
(K206R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(L11F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(R76S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJA1
(Y230fs)
Deletion
(frameshift variant)
GJA1-related disorder
GPathogenic
GJA1
(L11P)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(H194P)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(R376Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GJA1
(C260fs)
Microsatellite
(frameshift variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(V96M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
Duplication
(inframe_insertion)
Oculodentodigital dysplasia
GPathogenic
GJA1
(G22E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GPathogenic
GJA1
(G21R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(S18P)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(Y17S)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
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