| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more | |
| | | Copy number loss | not provided | |
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