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