Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 55 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 55 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 55 +1 more | |
| | | Duplication (frameshift variant) | Combined oxidative phosphorylation defect type 7 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 55 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 55 | |
| | | Deletion (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 55 | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 7 +2 more | |
| | | Deletion (frameshift variant) | Abnormal brain morphology +2 more | GPathogenic/Likely pathogenic |
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