| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130002133, PTCH1 (G38V) | Single nucleotide variant (missense variant +2 more) | Holoprosencephaly 7 +5 more | GConflicting classifications of pathogenicity |
| | LOC130002133, PTCH1 (G37R) | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +4 more | |
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