| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Breast and/or ovarian cancer +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Canavan Disease, Familial Form +3 more | |
| | | Single nucleotide variant (nonsense) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene