Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Polycystic kidney disease, adult type +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Lumbar hyperlordosis +4 more | |
| | | | Miyoshi muscular dystrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
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