| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental and epileptic encephalopathy, 49 | |
| | SNHG14, UBE3A (W768* +8 more) | Single nucleotide variant (nonsense +1 more) | Angelman syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 5 +1 more | GPathogenic/Likely pathogenic |
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