| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | NKX2-1, SFTA3 (A276fs +1 more) | Deletion (frameshift variant) | NKX2-1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NKX2-1-related disorder +1 more | |
| | | Microsatellite (inframe_insertion) | NKX2-1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | NKX2-1-related disorder +2 more | |
Click to view in NCBI Gene