Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Hearing loss, autosomal recessive 116 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hearing loss, autosomal recessive 116 | |
| | | Duplication (inframe_insertion) | Hearing loss, autosomal recessive 116 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene