| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 3 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 3 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 3 +4 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Potocki-Lupski syndrome | |
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