Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Insertion (inframe_insertion) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Single nucleotide variant (synonymous variant) | NOVA2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Insertion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Deletion (frameshift variant) | Intellectual disability, severe | |
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