Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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) | Microcephaly +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 5 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene