Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | Cognitive impairment +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Muscle weakness +24 more | |
| | | Single nucleotide variant (missense variant) | FKRP-related condition +20 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene