Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive 116 | |
| | | Duplication (frameshift variant) | Pendred syndrome +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 |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
Click to view in NCBI Gene