Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive nonsyndromic hearing loss 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive nonsyndromic hearing loss 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive nonsyndromic hearing loss 48 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 1J +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 48 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 48 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 1J +1 more | |
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