Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Autosomal dominant nonsyndromic hearing loss 64 | |
| | B3GNT4, DIABLO (R105Q +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal dominant nonsyndromic hearing loss 64 +1 more | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal dominant nonsyndromic hearing loss 64 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
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