Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Duplication (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunoskeletal dysplasia with neurodevelopmental abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Immunoskeletal dysplasia with neurodevelopmental abnormalities | |
| | | Single nucleotide variant (missense variant) | Immunoskeletal dysplasia with neurodevelopmental abnormalities +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Immunoskeletal dysplasia with neurodevelopmental abnormalities | |
Click to view in NCBI Gene