Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Rheumatoid arthritis +5 more | |
| | | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Breast and colorectal cancer, susceptibility to +19 more | |
Click to view in NCBI Gene