| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +13 more | |
| | | Duplication (frameshift variant) | Myoclonus +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +7 more | |
Click to view in NCBI Gene