Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 83 | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 83 | |
| | | Deletion (frameshift variant) | Hearing loss, autosomal dominant 83 +1 more | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 83 | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 83 +1 more | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 83 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Periventricular nodular heterotopia 9 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 83 | |
| | | Single nucleotide variant (synonymous variant) | Hearing loss, autosomal dominant 83 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hearing loss, autosomal dominant 83 +2 more | |
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