Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (3 prime UTR variant) | Rhabdoid tumor predisposition syndrome +2 more | |
| | | Duplication (3 prime UTR variant) | Rhabdoid tumor predisposition syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Schwannomatosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Rhabdoid tumor predisposition syndrome +2 more | |
Click to view in NCBI Gene