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Links from MedGen

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA8
(W45R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
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
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)
Cataract 1 multiple types
GUncertain significance
GJA8
(L7P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
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
GLikely pathogenic
GJA8
(R198W)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
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
GConflicting classifications of pathogenicity
GJA5, CHD1L
+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)
Inborn genetic diseases
+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)
not provided
+1 more
GPathogenic
GJA8
(P88Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(P88L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GConflicting classifications of pathogenicity
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
GPathogenic
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
GLikely pathogenic
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
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(P187L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(N55D)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V433L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P199S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
Insertion
(inframe_insertion)
Cataract 1 multiple types
GUncertain significance
GJA8
(D67E)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(Y66C)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(M222T)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GBenign/Likely benign
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GLikely benign
GJA8
(G119E)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GBenign
GJA8
Single nucleotide variant
(intron variant)
Cataract 1 multiple types
GUncertain significance
GJA8
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(R425P)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(S388L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
Single nucleotide variant
(5 prime UTR variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P386L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GBenign
GJA8
(G369W)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GBenign
GJA8
(K349E)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GBenign
GJA8
(E343K)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely benign
GJA8
(E201G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(E339V)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(Y66S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely pathogenic
GJA8
(W45L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(G376R)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P59L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
Deletion
Cataract 1 multiple types
GPathogenic
GJA8
(L7M)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Cataract 1 multiple types
GBenign
GJA8
(P280L)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(Y66H)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(R106H)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(P88A)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(D51E)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
(F161V)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(R23G)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(G46R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
GJA8
(R33W)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(V163M)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(D51H)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(S276F)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GJA8
Duplication
(genic downstream transcript variant)
Zonular Pulverulent Cataract
+2 more
GBenign
GJA8
Duplication
(3 prime UTR variant)
Zonular Pulverulent Cataract
+1 more
GLikely benign
GJA8
(E368Q)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+1 more
GBenign/Likely benign
GJA8
(V366M)
Single nucleotide variant
(missense variant)
Zonular Pulverulent Cataract
+1 more
GUncertain significance
GJA8
(T357A)
Single nucleotide variant
(missense variant)
Zonular Pulverulent Cataract
+1 more
GUncertain significance
GJA8
(E332K)
Single nucleotide variant
(missense variant)
Zonular Pulverulent Cataract
+1 more
GUncertain significance
GJA8
(N298S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
+2 more
GBenign/Likely benign
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