Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Deletion (inframe_deletion) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Microsatellite (frameshift variant) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
Click to view in NCBI Gene