| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | NKX2-1, SFTA3 (M197fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (G85fs +1 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene