| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | 3MC syndrome 1 | |
| | | Single nucleotide variant (nonsense +2 more) | 3MC syndrome 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene