| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | SLC26A4, SLC26A4-AS1 (E29Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Rare genetic deafness +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Visceral heterotaxy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy | |
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