Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia, autosomal recessive 30 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia, autosomal recessive 30 | |
| | | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia, autosomal recessive 30 | |
| | | Insertion | Spinocerebellar ataxia, autosomal recessive 30 +2 more | GConflicting classifications of pathogenicity |
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