| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Xeroderma pigmentosum, group C +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
Click to view in NCBI Gene