| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NKX2-1, SFTA3 (E222* +1 more) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (R179P +1 more) | Single nucleotide variant (missense variant) | Hereditary ataxia +2 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (L176P +1 more) | Single nucleotide variant (missense variant) | not provided | |
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