Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 1D | |
| | | Duplication (frameshift variant) | Pontocerebellar hypoplasia, type 1D | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 1D | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia, type 1D +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebral atrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene