Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Low-set ears +9 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Single nucleotide variant (missense variant) | not specified +13 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene