Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | ELOVL4-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stargardt disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 34 +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Deletion (frameshift variant) | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene