| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | NTHL1-related condition +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene