Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Deletion (frameshift variant +3 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more | |
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