| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Tuberous sclerosis 2 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene