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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA1
(L347I)
Single nucleotide variant
(missense variant)
Autosomal dominant palmoplantar keratoderma and congenital alopecia
+9 more
GUncertain significance
GJA1
(A311fs)
Deletion
(frameshift variant)
Hypoplastic left heart syndrome 1
+7 more
GUncertain significance
GJA1
(A40V)
Single nucleotide variant
(missense variant)
Autosomal dominant palmoplantar keratoderma and congenital alopecia
+8 more
GPathogenic
GJA1
(G8V)
Single nucleotide variant
(missense variant)
Autosomal dominant palmoplantar keratoderma and congenital alopecia
GPathogenic
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