| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypomagnesemia, seizures, and intellectual disability 2 +1 more | |
| | ATP1A1-AS1, ATP1A1 (G518R +1 more) | Single nucleotide variant (missense variant) | Charcot-marie-tooth disease, axonal, type 2DD +1 more | GConflicting classifications of pathogenicity |
| | ATP1A1, ATP1A1-AS1 (E1003K +1 more) | Single nucleotide variant (missense variant) | Charcot-marie-tooth disease, axonal, type 2DD | |
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