Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiomyopathy | |
| | | Deletion (inframe_deletion) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +10 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene