Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
Click to view in NCBI Gene