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Links from MedGen

Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA8
(K158Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(A41P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(R76G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(S73F)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(S73P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(F70L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(A69T)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V64G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G60R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(P59T)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P59A)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(T56P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(F52L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G46V)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V44A)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(E42K)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(T39R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(F32I)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(I31T)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(G22R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(S18F)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
Deletion
(inframe deletion)
Cataract 1 multiple types
GUncertain significance
GJA8
(W4C)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(W4R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G376fs)
Deletion
(frameshift variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(E340Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G333R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(L292Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(M286fs)
Deletion
(frameshift variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P280R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(S259Y)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(S258F)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(A256fs)
Duplication
(frameshift variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(T203fs)
Duplication
(frameshift variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(S197F)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V196M)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P189A)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G145W)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
Deletion
(inframe deletion)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(G123S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(R101L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(H98P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G94R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P88T)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V79L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(H98R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GConflicting classifications of pathogenicity
GJA8
(H154D)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(R425*)
Single nucleotide variant
(nonsense)
Cataract 1 multiple types
GUncertain significance
GJA8
(W45R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GConflicting classifications of pathogenicity
GJA8
(E382*)
Single nucleotide variant
(nonsense)
Cataract 1 multiple types
GUncertain significance
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(G22C)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(V64A)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic/Likely pathogenic
GJA8
(G347E)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P88R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(A41V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GJA8
(L7P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GConflicting classifications of pathogenicity
GJA8
(G376fs)
Duplication
(frameshift variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(I82M)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(E201K)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GConflicting classifications of pathogenicity
GJA8
(V97G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GConflicting classifications of pathogenicity
GJA8
(R198W)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+2 more
GConflicting classifications of pathogenicity
GJA8
(G60S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GPathogenic/Likely pathogenic
GJA8
(I34T)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(T39K)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GLikely pathogenic
ACP6, BCL9
+3 more
Deletion
Cataract 1 multiple types
GPathogenic
GJA8
(V212L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G8R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GUncertain significance
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(L90Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(F205S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G46E)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(F32V)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(S50P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(S89F)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(N63K)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V44M)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+3 more
GConflicting classifications of pathogenicity
GJA8
(P88Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(P88L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GPathogenic/Likely pathogenic
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(K158R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GUncertain significance
GJA8
(Q81R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(A118V)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(E48G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(R76C)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GConflicting classifications of pathogenicity
ACP6, BCL9
+3 more
Duplication
Cataract 1 multiple types
GUncertain significance
GJA8
(D430N)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(W45C)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(D67G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GConflicting classifications of pathogenicity
GJA8
(E223G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V167L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(E62K)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(R76H)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
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