| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +19 more | |
| | | Single nucleotide variant (missense variant) | Decreased body weight +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa pruriginosa +16 more | |
| | | Single nucleotide variant (nonsense) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +12 more | |
Click to view in NCBI Gene