Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Duplication (splice donor variant) | Hearing loss, autosomal dominant 84 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 33 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene