| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130002133, PTCH1 (R47W) | Single nucleotide variant (missense variant +2 more) | Gorlin syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC130002133, PTCH1 (R35Q) | Single nucleotide variant (missense variant +2 more) | Gorlin syndrome +1 more | |
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