Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Heart, malformation of +4 more | |
| | | Single nucleotide variant (missense variant) | Heart, malformation of +4 more | |
| | | Single nucleotide variant (missense variant) | Clinodactyly +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +31 more | |
Click to view in NCBI Gene