| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130002133, PTCH1 (G38E) | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | LOC130002133, PTCH1 (P10S) | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not specified +3 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided +2 more | |
Click to view in NCBI Gene