| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 +4 more | GPathogenic/Likely pathogenic |
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