| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NKX2-1, SFTA3 (P261R +1 more) | Single nucleotide variant (missense variant) | Benign hereditary chorea +1 more | |
| | NKX2-1, SFTA3 (P202L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (Y215* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
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