Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | SPRTN-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Progeroid features-hepatocellular carcinoma predisposition syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Progeroid features-hepatocellular carcinoma predisposition syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Progeroid features-hepatocellular carcinoma predisposition syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided | |
Click to view in NCBI Gene