| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia complementation group A | |
Click to view in NCBI Gene