Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Polyhydramnios +5 more | |
| | | Copy number gain | Heart, malformation of +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Translocation | Alopecia areata +10 more | |
Click to view in NCBI Gene