| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | Pregnancy loss, recurrent, susceptibility to, 2 +5 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (intron variant) | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Ischemic stroke +1 more | |
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