| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Farber lipogranulomatosis +3 more | |
Click to view in NCBI Gene