| 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) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more | |
| | | Single nucleotide variant (missense variant) | Prader-Willi syndrome +3 more | |
Click to view in NCBI Gene