| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | MYMK-related disorder | |
| | | Single nucleotide variant (missense variant) | Congenital nonprogressive myopathy with Moebius and Robin sequences +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Carey-Fineman-Ziter syndrome 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene