| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 +6 more | |
| | | Single nucleotide variant (missense variant) | ATP1A3-associated neurological disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ATP1A3-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Epicanthus +7 more | |
Click to view in NCBI Gene