| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ASMT-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene