Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 2C | |
| | | Duplication (frameshift variant) | Pontocerebellar hypoplasia type 2C | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 2C | |
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