| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ENG, LOC102723566 (V504M +1 more) | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (N246H +1 more) | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (A425V +1 more) | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (splice acceptor variant) | not specified +4 more | GPathogenic/Likely pathogenic |
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