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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH1
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
PTCH1
(S259fs +3 more)
Duplication
(frameshift variant +1 more)
Gorlin syndrome
GLikely pathogenic