| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Indel (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Deletion | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Copy number loss | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 +2 more | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |