- The following term was not found in ClinVar: Brasiliorchis.
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PLP1, RAB9B (I152T +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | X-linked Emery-Dreifuss muscular dystrophy | |
Click to view in NCBI Gene