| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Trichorhinophalangeal dysplasia type I +1 more | |
| | | Single nucleotide variant (missense variant) | Alopecia areata +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hyperextensible skin +6 more | |
Click to view in NCBI Gene