Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 34 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 34 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ELOVL4-Related Disorders +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 34 +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome +4 more | |
Click to view in NCBI Gene