| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CDH23, LOC111982869 (V2635F +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Knuckle pads, deafness AND leukonychia syndrome +8 more | |
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