Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | Wide anterior fontanel +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Aplasia of the ovary +16 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skeletal system +28 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +25 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene