| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (nonsense) | Hereditary hemorrhagic telangiectasia +3 more | |
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