| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ENG, LOC102723566 (K331R +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (intron variant) | See cases | |
| | ENG, LOC102723566 (R217fs +1 more) | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | |
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