| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene