Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Lower limb amyotrophy +5 more | GConflicting classifications of pathogenicity |
| | | | Miyoshi muscular dystrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Gnathodiaphyseal dysplasia +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene