| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Isolated congenital digital clubbing +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Isolated congenital digital clubbing +2 more | |
Click to view in NCBI Gene