| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Basal cell carcinoma, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Basal cell carcinoma, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Gorlin syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Gorlin syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Basal cell carcinoma, susceptibility to, 1 | |
| | | Copy number loss | See cases | |
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