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Links from MedGen

Items: 1 to 100 of 187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA1
(S180I)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(N318H)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(I176M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(N294K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(I156V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(E352V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(E110K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(G120A)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(L228F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(E62K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(K303R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(P246T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(K237N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(K144*)
Single nucleotide variant
(nonsense)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(H95Y)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(P284del)
Microsatellite
(inframe_deletion)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(D245N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(Y66C)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(G138V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(A249V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(T326I)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(V96A)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(R76C)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(V41L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(D292V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(V359M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(L11H)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GPathogenic
GJA1
(V219L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(A276T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(D292G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(G38E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
GJA1
(A168G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(R53H)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(R101Q)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(T154N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(S372G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(S182N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
+1 more
GUncertain significance
GJA1
(A51G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(R319Q)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(H331L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(D379E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(I327M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Duplication
(inframe_insertion)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(R153Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(G149R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(K134N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(K287N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(L278F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
+1 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(V121I)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(F165L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(P284L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(V219M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(G324E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(V196M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(N63D)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GPathogenic
GJA1
(R153*)
Single nucleotide variant
(nonsense)
not specified
+2 more
GUncertain significance
GJA1
(S297del)
Microsatellite
(inframe_deletion)
Oculodentodigital dysplasia, autosomal recessive
+1 more
GUncertain significance
GJA1
(A168T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJA1
(K287R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+1 more
GUncertain significance
GJA1
(F84L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
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