| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemorrhagic telangiectasia +3 more | GPathogenic/Likely pathogenic |
| | ENG, LOC102723566 (R529H +1 more) | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | |
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