Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Rhabdoid tumor predisposition syndrome 2 | |
| | | Deletion (inframe_deletion) | Small cell carcinoma of the ovary, hypercalcemic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal dominant 16 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene