Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Disproportionate short-limb short stature +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Relative macrocephaly +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature +35 more | |
Click to view in NCBI Gene