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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH2
(I1121M)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+3 more
GBenign/Likely benign
PTCH2
(P1116L)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
PTCH2
Single nucleotide variant
(synonymous variant)
Basal cell carcinoma, susceptibility to, 1
+3 more
GLikely benign
PTCH2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
PTCH2
(R665H)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+2 more
GLikely benign
PTCH2
(A594T)
Single nucleotide variant
(missense variant)
Basal cell carcinoma, susceptibility to, 1
+2 more
GLikely benign
PTCH2
(L189V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PTCH2
(V184M)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+2 more
GUncertain significance
PTCH2
(E83K)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+2 more
GUncertain significance
PTCH2
(R37C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PTCH2
(L7V)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+2 more
GUncertain significance
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