| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ENG, LOC102723566 (R571C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ENG, LOC102723566 (V504M +1 more) | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Deletion (frameshift variant) | Hereditary hemorrhagic telangiectasia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary hemorrhagic telangiectasia +1 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary hemorrhagic telangiectasia +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
Click to view in NCBI Gene