Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant sensory ataxia 1 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant sensory ataxia 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia 85, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia 85, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant sensory ataxia 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Spastic paraplegia 85, autosomal recessive | |
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