| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene