ClinVar Miner

List of variants in gene ENG reported as pathogenic for Hereditary hemorrhagic telangiectasia type 1

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Total variants: 89
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HGVS dbSNP
NC_000009.12:g.(?_127824284)_(127854482_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843088)_(127843251_?)del
NC_000009.12:g.(?_127843094)_(127843245_?)del
NC_000009.12:g.(?_127854269)_(127854482_?)del
NC_000009.12:g.127814980_127830815del
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1015_1024del (p.Ala339fs) rs1554810066
NM_000118.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.1A>C (p.Met1Leu) rs1060501418
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_000118.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_000118.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_000118.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_000118.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_000118.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_000118.3(ENG):c.689+1G>A rs1588582594
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_000118.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_000118.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_000118.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_000118.3(ENG):c.991+2T>C rs1564455554
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000118.3(ENG):c.992-2A>G rs1588580932
NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) rs1554810037
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.146del (p.Val49fs)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.164del (p.Ala55fs)
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.298_299del (p.Ser100fs)
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
NM_001114753.3(ENG):c.370del (p.Leu124fs)
NM_001114753.3(ENG):c.39del (p.Leu14fs)
NM_001114753.3(ENG):c.496del (p.Gln166fs)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.524-1_689+1del
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.667dup (p.Val223fs)
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.690-2A>G
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter)
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
NM_001114753.3(ENG):c.817-1G>A
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del)
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
NM_001114753.3(ENG):c.967_968del (p.Val323fs)
Single allele

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