Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 1A | |
| | | Deletion (frameshift variant) | Brachyolmia-amelogenesis imperfecta syndrome | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta | |
| | | Single nucleotide variant (nonsense) | Hearing impairment +2 more | |
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