| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ENG, LOC102723566 (C493* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (Q436* +1 more) | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
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