Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | ATP1A3-associated neurological disorder | |
| | | Single nucleotide variant (missense variant) | ATP1A3-associated neurological disorder | |
| | | Single nucleotide variant (missense variant) | ATP1A3-associated neurological disorder +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Dystonia 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 +6 more | GPathogenic/Likely pathogenic |
| | | Indel (inframe_indel) | ATP1A3-associated neurological disorder | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +5 more | |
Click to view in NCBI Gene