| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental delay with autism spectrum disorder and gait instability +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 6 +2 more | |
| | | Single nucleotide variant (missense variant) | HERC2-related condition +4 more | |
Click to view in NCBI Gene