Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cerebellar ataxia +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive spastic paraparesis +3 more | |
| | | Deletion | Choreoathetosis +9 more | |
| | | Single nucleotide variant (missense variant) | Choreoathetosis +9 more | |
| | | Duplication (frameshift variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +15 more | |
| | | Indel (intron variant) | Dysmetria +14 more | |
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