Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Aplasia/hypoplasia involving bones of the lower limbs +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 +11 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +11 more | |
| | | Deletion (nonsense) | Cornelia de Lange syndrome 1 +9 more | |
| | | Translocation | Bilateral lung agenesis +9 more | |
| | | Translocation | Clinodactyly +11 more | |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene