| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NKX2-1, SFTA3 (E177* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | NKX2-1, SFTA3 (W113* +1 more) | Single nucleotide variant (nonsense) | Benign hereditary chorea | |
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