Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Reduced bone mineral density +18 more | |
| | | Single nucleotide variant (missense variant) | Pointed chin +14 more | |
| | | Single nucleotide variant (nonsense +1 more) | Dilated cardiomyopathy 3B +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence +6 more | |
Click to view in NCBI Gene