| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Cryptorchidism +20 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Insomnia +14 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Intellectual disability, X-linked, with panhypopituitarism +28 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene