Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | RASopathy +10 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Translocation | Telecanthus +3 more | |
| | | Translocation | Round face +8 more | |
| | | Translocation | Limb joint contracture +20 more | |
| | | Deletion (frameshift variant) | Nager syndrome +4 more | |
Click to view in NCBI Gene