Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NKX2-1, SFTA3 (R179P +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene