Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | LOC130060218, VAMP2 (A5T +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +1 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Microsatellite (splice acceptor variant) | Severe neurodevelopmental delay | |
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