Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Biliary, renal, neurologic, and skeletal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Biliary, renal, neurologic, and skeletal syndrome | |
| | | Single nucleotide variant (missense variant) | Biliary, renal, neurologic, and skeletal syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Biliary, renal, neurologic, and skeletal syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Biliary, renal, neurologic, and skeletal syndrome | |
Click to view in NCBI Gene