Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Autosomal recessive spinocerebellar ataxia 15 | |
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