| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypotrichosis 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal dominant wooly hair | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant wooly hair | |
Click to view in NCBI Gene