| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hidrotic ectodermal dysplasia syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hidrotic ectodermal dysplasia syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | GJB6-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Indel (frameshift variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | GJB6-related disorder +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Duplication | not specified | |
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