| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital short bowel syndrome, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Hypercalciuria, childhood, self-limiting | |
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