Links from Orgtrack
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (5 prime UTR variant +2 more) | Autosomal dominant nonsyndromic hearing loss 67 | |
| | | | Hearing loss, autosomal recessive 111 | |
| | | | Autosomal recessive nonsyndromic hearing loss 3 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 3 | |
| | | Deletion (frameshift variant) | Hearing loss, autosomal recessive 111 | |
| | | Deletion (frameshift variant) | Rare genetic deafness +2 more | |
| | | Deletion (inframe_deletion) | Autosomal dominant nonsyndromic hearing loss 2A | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2A | |
| | | Single nucleotide variant (nonsense) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 18B +1 more | |
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 3 +2 more | |
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