| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Gorlin syndrome | |
| | LOC100507346, PTCH1 (H520fs +4 more) | Duplication (non-coding transcript variant +1 more) | Gorlin syndrome +1 more | |
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