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Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH2
(G1197E)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PTCH2
(S1195T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTCH2
(V1105M)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(L1104P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(I1084T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(L1070F)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(A1054S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(A1052T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(A1051P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(V1036M)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GConflicting classifications of pathogenicity
PTCH2
(H1035Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(I1028T)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(A1024V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PTCH2
(A935T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(E928K)
Single nucleotide variant
(missense variant)
Basal cell carcinoma, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
PTCH2
(V924A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(T893M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(P881Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(A876G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(L860Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(T840S)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+2 more
GBenign
PTCH2
(G828E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(T827S)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(A820V)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(R811H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(R811L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(R807H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PTCH2
(R804C)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(Q793H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(I792L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(P773L)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(A755T)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(Q744P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(H724R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(A704T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+2 more
GBenign
PTCH2
(A677P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(R673C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(T615N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+2 more
GBenign
PTCH2
(T597N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PTCH2
(G587R)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GConflicting classifications of pathogenicity
PTCH2
(D586N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(D586Y)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(V576M)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(R561H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(R556Q)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(I533T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PTCH2
(R525Q)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(P522A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(M515V)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(A512T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(R497H)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(T450A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PTCH2
(G448S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(V425M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(A419T)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(V411M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(Q373E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(Q364E)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(R357W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(H339P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(H339R)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GConflicting classifications of pathogenicity
PTCH2
(R333Q)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(R333W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(H331Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(G301S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(M291I)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(H277Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PTCH2
(A276T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(N274S)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(P255A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(C252Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(R250Q)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+2 more
GUncertain significance
PTCH2
(R235W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(P209L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(A203V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(L189F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(P188R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(P188H)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+2 more
GUncertain significance
PTCH2
(G164R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(L156W)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(S143R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH2
(I116T)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(K101R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(R92Q)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(R92W)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(L82F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(I77V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH2
(G62R)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(R37C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PTCH2
(A21T)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH2
(P17A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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