| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Microsatellite (inframe_insertion +2 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Duplication (frameshift variant +1 more) | Hereditary hemorrhagic telangiectasia +3 more | |
| | | Deletion (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 +1 more | |
| | ENG, LOC102723566 (L313P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (F304fs +1 more) | Duplication (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (Q289* +1 more) | Single nucleotide variant (nonsense) | Hereditary hemorrhagic telangiectasia +2 more | |
| | LOC102723566, ENG (Q280* +1 more) | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (Y273* +1 more) | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (D264G +1 more) | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (N241S +1 more) | Single nucleotide variant (missense variant) | ENG-related disorder +4 more | GConflicting classifications of pathogenicity |
| | ENG, LOC102723566 (G231D +1 more) | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (E213* +1 more) | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (synonymous variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_indel) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Indel (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant) | Hereditary hemorrhagic telangiectasia +3 more | |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (frameshift variant +1 more) | Hereditary hemorrhagic telangiectasia +1 more | |
| | ENG, LOC102723566 (T362fs +1 more) | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | ENG, LOC102723566 (P346fs +1 more) | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | LOC102723566, ENG (E323* +1 more) | Single nucleotide variant (nonsense) | Cardiovascular phenotype +1 more | |
| | ENG, LOC102723566 (L315fs +1 more) | Duplication (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (splice acceptor variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (splice acceptor variant +2 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (splice acceptor variant +2 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (splice acceptor variant +2 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (splice acceptor variant +2 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Deletion (splice acceptor variant +2 more) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Microsatellite (inframe_deletion) | Telangiectasia, hereditary hemorrhagic, type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Deletion (inframe_indel) | Telangiectasia, hereditary hemorrhagic, type 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hereditary hemorrhagic telangiectasia +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary hemorrhagic telangiectasia +2 more | |
| | | Microsatellite (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 +3 more | GPathogenic/Likely pathogenic |
| | ENG, LOC102723566 (D309fs +1 more) | Deletion (frameshift variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemorrhagic telangiectasia +2 more | |
| | | Single nucleotide variant (intron variant) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Telangiectasia, hereditary hemorrhagic, type 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 +1 more | GPathogenic/Likely pathogenic |
| | ENG, LOC102723566 (F207del +1 more) | Deletion (inframe_deletion +1 more) | Hereditary hemorrhagic telangiectasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ENG-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 +1 more | |
| | ENG, LOC102723566 (Q436* +1 more) | Single nucleotide variant (nonsense) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | |
| | ENG, LOC102723566 (R217fs +1 more) | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 +3 more | |
| | ENG, LOC102723566 (M263fs +1 more) | Deletion (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |