Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | 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) | Pontocerebellar hypoplasia, type 1D +2 more | GPathogenic/Likely pathogenic |
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