| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Xeroderma pigmentosum +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Xeroderma pigmentosum, group C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group C | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group C | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group C | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Xeroderma pigmentosum, group C +2 more | |
Click to view in NCBI Gene