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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNNA1
(K16R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CTNNA1
Single nucleotide variant
(splice donor variant)
Patterned macular dystrophy 2
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(R54H)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(A58V)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(Q67H)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(A68T)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(E95A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CTNNA1
(R98Q)
Single nucleotide variant
(missense variant +1 more)
CTNNA1-related disorder
+3 more
GConflicting classifications of pathogenicity
CTNNA1
Deletion
(splice acceptor variant +1 more)
not provided
+1 more
GLikely pathogenic
CTNNA1
(C13Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CTNNA1
(S117C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(M21V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(R126W +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+1 more
GUncertain significance
CTNNA1
(T136fs +2 more)
Duplication
(frameshift variant)
Hereditary diffuse gastric adenocarcinoma
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(R137W +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(R137Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(M144V +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(K149T +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(G37V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTNNA1
(G37D +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(G168D +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(N169D +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTNNA1
(A68T +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+1 more
GUncertain significance
CTNNA1
(H203Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTNNA1
(D102N +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(I213V +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(L118R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTNNA1
(Y114C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(Y122fs +2 more)
Duplication
(frameshift variant)
Patterned macular dystrophy 2
GLikely pathogenic
CTNNA1
(I121L +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(Y122fs +2 more)
Deletion
(frameshift variant)
Patterned macular dystrophy 2
GLikely pathogenic
CTNNA1
(Y245H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(Y122C +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(Q168R +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CTNNA1
(G276del +2 more)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(Y157C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(N160S +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(Q165H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTNNA1
(E176G +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(R185H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTNNA1
(E187fs +2 more)
Deletion
(frameshift variant)
Patterned macular dystrophy 2
GLikely pathogenic
CTNNA1
(R226H +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(R227C +2 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+1 more
GUncertain significance
CTNNA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
CTNNA1
(R234C +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
CTNNA1
(R357H +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(D239E +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(I245V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(D369E +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(R256G +3 more)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(R260C +3 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(N275D +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(N275S +3 more)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(V33I +3 more)
Single nucleotide variant
(missense variant +2 more)
CTNNA1-related disorder
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(R321H +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
CTNNA1
(I328V +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(N65S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(C335Y +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(I337V +3 more)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(R451* +3 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary diffuse gastric adenocarcinoma
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(R328Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(A331E +4 more)
Single nucleotide variant
(missense variant +2 more)
Patterned macular dystrophy 2
+1 more
GUncertain significance
CTNNA1
(P359L +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CTNNA1
(N343D +6 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(M33V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(Q459L +7 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(Q11* +7 more)
Single nucleotide variant
(nonsense)
Hereditary diffuse gastric adenocarcinoma
+1 more
GPathogenic/Likely pathogenic
CTNNA1
(R126C +7 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(V411I +7 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(N41fs +7 more)
Deletion
(frameshift variant)
Patterned macular dystrophy 2
+1 more
GPathogenic/Likely pathogenic
CTNNA1
(R437H +7 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(N130S +7 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CTNNA1
(R483C +7 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTNNA1
(S117L +7 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(F165V +7 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(F165Y +7 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
GUncertain significance
CTNNA1
(Q192* +7 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
CTNNA1
(R608* +7 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
CTNNA1
(S261N +7 more)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 2
+1 more
GUncertain significance
CTNNA1
(K265Q +7 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
Single nucleotide variant
(intron variant)
Patterned macular dystrophy 2
+1 more
GUncertain significance
CTNNA1
(Q461H +9 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(V715I +9 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
CTNNA1
(N853S +9 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CTNNA1
(E394G +9 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
CTNNA1
(R401Q +9 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CTNNA1
(K406del +9 more)
Microsatellite
(3 prime UTR variant +1 more)
Patterned macular dystrophy 2
GUncertain significance
CTNNA1
(K519Q +9 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Patterned macular dystrophy 2
+2 more
GUncertain significance
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