| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +12 more | |
Click to view in NCBI Gene