Sugi Variant

Sugi Variant/ENG

ENG — 1768 ClinVar variants

All ClinVar germline ENG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 509 flagged for review →

372 Pathogenic · 54 Pathogenic/Likely pathogenic · 88 Likely pathogenic · 126 Conflicting · 40 Benign · 48 Benign/Likely benign · 545 Likely benign · 495 Uncertain significance

Full ENG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 509

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 15

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 64

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 190

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 190

Predictors split 240

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 240

All ENG variants

Pathogenic 372

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Arg529His Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Cys382Tyr Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Gly331Ser Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Met1Arg Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Trp149Cys Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Val568fs Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • c.1311+2T>A Multiple submitters Cardiovascular phenotype
  • c.1686+1G>A Multiple submitters Cardiovascular phenotype
  • c.1686+1G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1687-1G>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1687delG Multiple submitters Cardiovascular phenotype
  • c.219+1G>A Multiple submitters Cardiovascular phenotype
  • c.219+2T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.220-1G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.360+1G>A Multiple submitters Cardiovascular phenotype
  • c.360+1G>C Multiple submitters Cardiovascular phenotype
  • c.360+1G>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.361-2A>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.523+1G>C Multiple submitters hereditary hemorrhagic telangiectasia
  • c.524-2A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.67+1G>A Multiple submitters Cardiovascular phenotype
  • c.689+1G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.689+1G>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.689+2T>C Multiple submitters Cardiovascular phenotype
  • c.690-1G>A Multiple submitters Cardiovascular phenotype
  • c.690-2A>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.817-1G>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.991+1G>C Multiple submitters Cardiovascular phenotype
  • c.991+2T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.992-2A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala175Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala175Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala312fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala55fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Arg153fs Multiple submitters Cardiovascular phenotype
  • p.Arg171Ter Multiple submitters Cardiovascular phenotype
  • p.Arg199fs Multiple submitters Cardiovascular phenotype
  • p.Arg93Ter Multiple submitters Cardiovascular phenotype
  • p.Asn423fs Multiple submitters Cardiovascular phenotype
  • p.Asp246fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys330Ter Multiple submitters Cardiovascular phenotype
  • p.Cys442Ter Multiple submitters Cardiovascular phenotype
  • p.Cys493fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Cys53Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln110Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln166fs Multiple submitters Cardiovascular phenotype
  • p.Gln188fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln188Ter Multiple submitters Cardiovascular phenotype
  • p.Gln254Ter Multiple submitters
  • p.Gln270Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Gln33fs Multiple submitters Cardiovascular phenotype
  • p.Gln415Ter Multiple submitters Cardiovascular phenotype
  • p.Gln436Ter Multiple submitters Cardiovascular phenotype
  • p.Gln476Ter Multiple submitters Cardiovascular phenotype
  • p.Gln48Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln508Ter Multiple submitters ENG-related disorder
  • p.Gln56Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Gln77Ter Multiple submitters Cardiovascular phenotype
  • p.Gln83Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Glu195fs Multiple submitters Cardiovascular phenotype
  • p.Glu239fs Multiple submitters Cardiovascular phenotype
  • p.Glu239Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu276fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Glu302Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Glu468Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu505Ter Multiple submitters Cardiovascular phenotype
  • p.Glu563Ter Multiple submitters Cardiovascular phenotype
  • p.Glu63Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu79Ter Multiple submitters Cardiovascular phenotype
  • p.Gly206fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gly214fs Multiple submitters Cardiovascular phenotype
  • p.Gly400fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gly413fs Multiple submitters Cardiovascular phenotype
  • p.Gly514fs Multiple submitters Cardiovascular phenotype
  • p.Ile322fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu12fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu14Pro Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Leu209Ter Multiple submitters Cardiovascular phenotype
  • p.Leu519fs Multiple submitters Cardiovascular phenotype
  • p.Leu572Ter Multiple submitters Cardiovascular phenotype
  • p.Leu80fs Multiple submitters Cardiovascular phenotype
  • p.Lys362fs Multiple submitters Cardiovascular phenotype
  • p.Lys543fs Multiple submitters Cardiovascular phenotype
  • p.Met1Thr Multiple submitters Cardiovascular phenotype
  • p.Met1Val Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Pro131fs Multiple submitters Cardiovascular phenotype
  • p.Pro225fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Pro256fs Multiple submitters Cardiovascular phenotype
  • p.Pro528fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Pro75fs Multiple submitters Cardiovascular phenotype
  • p.Ser187fs Multiple submitters Cardiovascular phenotype
  • p.Ser228Ter Multiple submitters Cardiovascular phenotype
  • p.Ser241fs Multiple submitters Cardiovascular phenotype
  • p.Ser328Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser393fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser431Ter Multiple submitters Cardiovascular phenotype
  • p.Ser433fs Multiple submitters Cardiovascular phenotype
  • p.Ser434Ter Multiple submitters Cardiovascular phenotype
  • p.Ser449fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Ser518fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr200fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr22fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr361fs Multiple submitters Cardiovascular phenotype
  • p.Thr45fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr538fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Thr567fs Multiple submitters Cardiovascular phenotype
  • p.Trp149Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Trp196Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Trp261fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Trp272Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Trp390Ter Multiple submitters Cardiovascular phenotype
  • p.Trp91Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Tyr120Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr455Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val133fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val212fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val223fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Val259fs Multiple submitters Cardiovascular phenotype
  • p.Val49Phe Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val517fs Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1134+1G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1134+1G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1134+2T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1236_1687-77del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1272+2T>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1273-2A>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1311+114del Single submitter
  • c.1311+1dup Single submitter hereditary hemorrhagic telangiectasia
  • c.1311+1G>C Single submitter Cardiovascular phenotype
  • c.1311+2T>G Single submitter Cardiovascular phenotype
  • c.1312-2del Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+2T>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-1G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-2A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1682_1686+15del Single submitter Cardiovascular phenotype
  • c.1686+2T>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1687-2A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.219+4_219+7del Single submitter hereditary hemorrhagic telangiectasia
  • c.220-225_991+123del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.220-226_1134+331del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.220-988_1134+331del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.360+2T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.360+4_360+7del Single submitter hereditary hemorrhagic telangiectasia
  • c.361-2A>G Single submitter Cardiovascular phenotype
  • c.361-36_370del Single submitter hereditary hemorrhagic telangiectasia
  • c.523+229_991+123del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.523+296_578del Single submitter hereditary hemorrhagic telangiectasia
  • c.523+2T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.524-1_689+1del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.524-1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.524-1G>T Single submitter Cardiovascular phenotype
  • c.68-18C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.68-1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.68-2A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.68-2A>T Single submitter hereditary hemorrhagic telangiectasia
  • c.68-3C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.68-4227_219+104del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.689+2T>A Single submitter hereditary hemorrhagic telangiectasia
  • c.68delG Single submitter Cardiovascular phenotype
  • c.690-1G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.690-2A>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.816+2T>A Single submitter
  • c.816+2T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.817-1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.991+1del Single submitter hereditary hemorrhagic telangiectasia
  • c.991+2T>G Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala151fs Single submitter Cardiovascular phenotype
  • p.Ala160fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala202fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala229fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala243fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala308fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala378= Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala511fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg192fs Single submitter
  • p.Arg205fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg232_Thr233insTer Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Arg304fs Single submitter Cardiovascular phenotype
  • p.Arg333fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg39fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg3fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg529fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg93fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asn163fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asn307fs Single submitter Cardiovascular phenotype
  • p.Asn465fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asn59fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asn88fs Single submitter Cardiovascular phenotype
  • p.Asp294fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp348fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp366_Ala367insTer Single submitter Cardiovascular phenotype
  • p.Asp366fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp491fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp496fs Single submitter Cardiovascular phenotype
  • p.Cys207fs Single submitter Cardiovascular phenotype
  • p.Cys207Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Cys242Ter Single submitter
  • p.Cys350fs Single submitter Cardiovascular phenotype
  • p.Cys363fs Single submitter Cardiovascular phenotype
  • p.Cys363Ser Single submitter Cardiovascular phenotype
  • p.Cys382fs Single submitter
  • p.Cys382Ter Single submitter Cardiovascular phenotype
  • p.Cys394Arg Single submitter hereditary hemorrhagic telangiectasia
  • p.Cys394fs Single submitter Cardiovascular phenotype
  • p.Cys412Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Cys549fs Single submitter Cardiovascular phenotype
  • p.Gln166Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln174Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln176fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln176Ter Single submitter
  • p.Gln254fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Gln335Ter Single submitter Cardiovascular phenotype
  • p.Gln33Ter Single submitter
  • p.Gln342Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln360fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln360Ter Single submitter
  • p.Gln451Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln462Ter Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Gln471fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln472fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln489fs Single submitter Cardiovascular phenotype
  • p.Gln560Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln562fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gln77fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu217fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu284fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu302fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu375fs Single submitter
  • p.Glu38Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu395Ter Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu41Ter Single submitter Cardiovascular phenotype
  • p.Glu424fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu505fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu525fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu70Ter Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu79fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu94fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu94Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly132fs Single submitter Cardiovascular phenotype
  • p.Gly173fs Single submitter Cardiovascular phenotype
  • p.Gly191fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly245fs Single submitter
  • p.Gly275fs Single submitter Cardiovascular phenotype
  • p.Gly36fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly386fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly40fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly453fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly501Ter Single submitter
  • p.Gly558fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Gly74fs Single submitter hereditary hemorrhagic telangiectasia
  • p.His219fs Single submitter
  • p.His227fs Single submitter Cardiovascular phenotype
  • p.His379_Leu380insTer Single submitter hereditary hemorrhagic telangiectasia
  • p.His565fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile146fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile156fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ile220fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile252_Leu253del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ile252del Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile252fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile252Thr Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile281fs Single submitter Cardiovascular phenotype
  • p.Ile310fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Ile574fs Single submitter
  • p.Leu124fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu147fs Single submitter Cardiovascular phenotype
  • p.Leu14fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu194fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu247fs Single submitter Cardiovascular phenotype
  • p.Leu251fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu300fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu306fs Single submitter Cardiovascular phenotype
  • p.Leu319fs Single submitter
  • p.Leu325fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu380fs Single submitter Cardiovascular phenotype
  • p.Leu430fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu443fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu497fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu497Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu506fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu69fs Single submitter Cardiovascular phenotype
  • p.Leu6fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu82fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu8fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu97Arg Single submitter hereditary hemorrhagic telangiectasia
  • p.Lys216fs Single submitter Cardiovascular phenotype
  • p.Lys280Ter Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Lys291fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Lys374fs Single submitter Cardiovascular phenotype
  • p.Lys381fs Single submitter
  • p.Lys556fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Lys86fs Single submitter Cardiovascular phenotype
  • p.Met1fs Single submitter Cardiovascular phenotype
  • p.Met1Ile Single submitter Cardiovascular phenotype
  • p.Met1Leu Single submitter hereditary hemorrhagic telangiectasia
  • p.Met269Arg Single submitter hereditary hemorrhagic telangiectasia
  • p.Met368fs Single submitter Cardiovascular phenotype
  • p.Met368Thr Single submitter hereditary hemorrhagic telangiectasia
  • p.Met414Lys Single submitter hereditary hemorrhagic telangiectasia

Pathogenic/Likely pathogenic 54

  • c.1134+1G>T Multiple submitters Cardiovascular phenotype
  • c.1272+1G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1311+1G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1311+2T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1428+1G>A Multiple submitters Cardiovascular phenotype
  • c.1429-1G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1687-1G>A Multiple submitters Cardiovascular phenotype
  • c.219+2T>C Multiple submitters Cardiovascular phenotype
  • c.219+5G>A Multiple submitters Cardiovascular phenotype
  • c.219+5G>C Multiple submitters
  • c.360+2dup Multiple submitters Cardiovascular phenotype
  • c.360+5G>A Multiple submitters Cardiovascular phenotype
  • c.360+5G>C Multiple submitters Cardiovascular phenotype
  • c.523+1G>A Multiple submitters Cardiovascular phenotype
  • c.67+2T>C Multiple submitters Cardiovascular phenotype
  • c.68-1G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.991+4A>G Multiple submitters Cardiovascular phenotype
  • c.-127C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala175Ser Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ala308Asp Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Arg205Pro Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Arg399fs Multiple submitters ENG-related disorder
  • p.Arg437Trp Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Asp578fs Multiple submitters Cardiovascular phenotype
  • p.Cys207Arg Multiple submitters Cardiovascular phenotype
  • p.Cys363Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys363Gly Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys363Tyr Multiple submitters Cardiovascular phenotype
  • p.Cys412Tyr Multiple submitters Cardiovascular phenotype
  • p.Cys53Arg Multiple submitters Cardiovascular phenotype
  • p.Cys549Tyr Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln472Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln489Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln87Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu485Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Gly52Asp Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ile220Thr Multiple submitters Cardiovascular phenotype
  • p.Ile263del Multiple submitters Cardiovascular phenotype
  • p.Leu299fs Multiple submitters Cardiovascular phenotype
  • p.Leu300Pro Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu32His Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu461fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu506Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu553fs Multiple submitters Cardiovascular phenotype
  • p.Leu8Pro Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Lys374Ser Multiple submitters Cardiovascular phenotype
  • p.Lys438Ter Multiple submitters Cardiovascular phenotype
  • p.Phe389del Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Phe450fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Pro296fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser278Pro Multiple submitters Cardiovascular phenotype
  • p.Trp611Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Tyr455fs Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val404Ala Multiple submitters hereditary hemorrhagic telangiectasia ⚠

Likely pathogenic 88

  • p.Asn423Ser Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Cys549Gly Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Gly603Arg Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu221Pro Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu506His Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Val440Gly Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • c.1311+5G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.360+4A>G Multiple submitters Cardiovascular phenotype
  • p.Arg232_Thr233del Multiple submitters Cardiovascular phenotype
  • p.Cys30Arg Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Glu38fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu299Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu520Pro Multiple submitters Cardiovascular phenotype
  • p.Ser407Asn Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Val49Asp Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1135-3_1135-2delinsAG Single submitter hereditary hemorrhagic telangiectasia
  • c.1311+5G>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1312-2A>G Single submitter Cardiovascular phenotype
  • c.1429-23_1429-1del Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-2del Single submitter Cardiovascular phenotype
  • c.1686+1G>C Single submitter Cardiovascular phenotype
  • c.1687-1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1741+2T>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.219+2T>A Single submitter ENG-related disorder
  • c.361-11T>A Single submitter hereditary hemorrhagic telangiectasia
  • c.523+5G>C Single submitter Cardiovascular phenotype
  • c.65_67+19del Single submitter hereditary hemorrhagic telangiectasia
  • c.67+2del Single submitter
  • c.679_689+7del Single submitter hereditary hemorrhagic telangiectasia
  • c.816+5G>C Single submitter Cardiovascular phenotype
  • c.896_991+90del Single submitter
  • c.976_1048del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.985_991+8del Single submitter hereditary hemorrhagic telangiectasia
  • c.992-49_1046del Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg437Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg437Pro Single submitter Cardiovascular phenotype
  • p.Asn423His Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp264fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys182Tyr Single submitter Cardiovascular phenotype
  • p.Cys207Phe Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys207Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys30Ser Single submitter hereditary hemorrhagic telangiectasia
  • p.Cys382Trp Single submitter Cardiovascular phenotype
  • p.Cys412Gly Single submitter hereditary hemorrhagic telangiectasia
  • p.Cys493Phe Single submitter hereditary hemorrhagic telangiectasia
  • p.Cys549Ser Single submitter hereditary hemorrhagic telangiectasia
  • p.Glu137fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu195Ter Single submitter
  • p.Glu353fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Glu395fs Single submitter
  • p.Gly255Arg Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gly255Cys Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Gly289Asp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gly502fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ile263Ser Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu162Arg Single submitter
  • p.Leu169Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu170_Arg171insLeu Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu194_Arg197del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu299Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Leu306Pro Single submitter Cardiovascular phenotype
  • p.Leu325Arg Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu32Arg Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Leu370Pro Single submitter Cardiovascular phenotype
  • p.Leu405Ser Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu495Pro Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Leu99His Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Lys347Ter Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Lys374Glu Single submitter Cardiovascular phenotype
  • p.Met414Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Met420fs Single submitter
  • p.Pro318fs Single submitter
  • p.Pro555fs Single submitter ENG-related disorder
  • p.Ser158fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ser329Arg Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Thr193fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Thr295Ile Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Thr385fs Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Thr557fs Single submitter
  • p.Trp261Gly Single submitter
  • p.Val236Met Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Val427Gly Single submitter hereditary hemorrhagic telangiectasia
  • c.816+1G>A No assertion criteria hereditary hemorrhagic telangiectasia
  • c.991+2T>A No assertion criteria telangiectasia, hereditary hemorrhagic, type 1
  • p.Asp578Glu No assertion criteria pulmonary arterial hypertension ⚠
  • p.Cys493Ter No assertion criteria hereditary hemorrhagic telangiectasia
  • p.Glu500fs No assertion criteria ENG-related disorder
  • p.Ser576_Asp578delinsAsn No assertion criteria pulmonary arterial hypertension

Conflicting classifications of pathogenicity 126

  • c.1135-8C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-8C>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1686+5G>A Single submitter Cardiovascular phenotype
  • c.1742-15G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1852+21C>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1852+36G>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1852+42C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.219+22C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.219+23G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.220-6C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.68-17G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.992-5C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-10C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-115G>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-188G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-58G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-63C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-98G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.233TV[1] Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala218Val Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Ala229Asp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala243Thr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala339Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala367Thr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala463= Single submitter Cardiovascular phenotype
  • p.Ala463Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala511Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala552Asp Single submitter Cardiovascular phenotype ⚠
  • p.Ala628Val Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg153Trp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg171Gln Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg171Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg192Cys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg192His Single submitter Cardiovascular phenotype ⚠
  • p.Arg197Trp Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg199His Single submitter Cardiovascular phenotype ⚠
  • p.Arg222Lys Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg232Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg288His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg304Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg304Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg304Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg399Ser Single submitter Cardiovascular phenotype ⚠
  • p.Arg3Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg3His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg406Cys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg406Gly Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg437Gln Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg478Ile Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg510Gln Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Arg529Cys Single submitter Cardiovascular phenotype ⚠
  • p.Asn163Tyr Single submitter Cardiovascular phenotype ⚠
  • p.Asn307Ile Single submitter Cardiovascular phenotype ⚠
  • p.Asp189Asn Single submitter Cardiovascular phenotype ⚠
  • p.Asp365Glu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp366= Single submitter Cardiovascular phenotype
  • p.Asp366Asn Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Asp366Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp561His Single submitter Cardiovascular phenotype ⚠
  • p.Cys30Tyr Single submitter Cardiovascular phenotype ⚠
  • p.Cys394Tyr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Cys652Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Gln476= Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Gln476Leu Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Glu148Gln Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Glu195Asp Single submitter Cardiovascular phenotype ⚠
  • p.Glu284Lys Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Glu41Lys Single submitter Cardiovascular phenotype ⚠
  • p.Gly214Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly255Val Single submitter Cardiovascular phenotype ⚠
  • p.Gly4Ser Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.His108Tyr Single submitter Cardiovascular phenotype ⚠
  • p.His227Arg Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.His494Asp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.His565= Single submitter Cardiovascular phenotype
  • p.Ile384Thr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Leu170del Single submitter Cardiovascular phenotype
  • p.Leu179Pro Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Leu194Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu203Phe Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Leu221Arg Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Leu300= Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu325His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Leu67Pro Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Lys216Glu Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Lys347Arg Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Met190Lys Single submitter Cardiovascular phenotype ⚠
  • p.Met269Lys Single submitter Cardiovascular phenotype ⚠
  • p.Met269Val Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Met356Lys Single submitter Cardiovascular phenotype ⚠
  • p.Met657Thr Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Phe403Ser Single submitter Cardiovascular phenotype ⚠
  • p.Pro225Gln Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro231His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro257Leu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro340Leu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro352Leu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro522Leu Single submitter Cardiovascular phenotype ⚠
  • p.Pro524= Single submitter Cardiovascular phenotype
  • p.Pro528Arg Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro528Leu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro577Arg Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Pro632Leu Single submitter Cardiovascular phenotype ⚠
  • p.Ser228Leu Single submitter Cardiovascular phenotype ⚠
  • p.Ser50Leu Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Ser584Arg Single submitter Cardiovascular phenotype ⚠
  • p.Ser634Ala Single submitter Cardiovascular phenotype ⚠
  • p.Thr126Ala Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Thr135= Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Thr193Met Single submitter Cardiovascular phenotype ⚠
  • p.Thr22Ala Single submitter Cardiovascular phenotype ⚠
  • p.Thr233Met Single submitter Cardiovascular phenotype ⚠
  • p.Thr274Ala Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Thr538= Single submitter Cardiovascular phenotype
  • p.Thr617Met Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Thr73= Single submitter ENG-related disorder
  • p.Thr81Asn Single submitter Cardiovascular phenotype ⚠
  • p.Tyr120= Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Val125Asp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Val236del Single submitter Cardiovascular phenotype
  • p.Val236Glu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Val238Glu Single submitter Cardiovascular phenotype ⚠
  • p.Val315Met Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val54Met Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Val568Ile Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val98Asp Single submitter Cardiovascular phenotype ⚠

Benign 40

Benign/Likely benign 48

  • c.1135-7G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1687-19CT[2] Multiple submitters Cardiovascular phenotype
  • c.1742-13C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1853-8_1853-3del Multiple submitters Cardiovascular phenotype
  • c.524-12G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.524-15C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.524-30G>A Multiple submitters
  • c.689+17G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.-158C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.-186G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.-70C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala303= Multiple submitters Cardiovascular phenotype
  • p.Ala511= Multiple submitters Cardiovascular phenotype
  • p.Ala591Thr Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala60= Multiple submitters Cardiovascular phenotype
  • p.Ala60Glu Multiple submitters Cardiovascular phenotype
  • p.Asp365Asn Multiple submitters Cardiovascular phenotype
  • p.Asp366His Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Cys53= Multiple submitters Cardiovascular phenotype
  • p.Glu38Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Glu485= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gly206Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly36= Multiple submitters Cardiovascular phenotype
  • p.Gly40= Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Gly509Ala Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gly598= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ile644= Multiple submitters Cardiovascular phenotype
  • p.Leu169= Multiple submitters Cardiovascular phenotype
  • p.Leu354= Multiple submitters Cardiovascular phenotype
  • p.Leu69= Multiple submitters Cardiovascular phenotype
  • p.Lys51Asn Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Pro201Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro225= Multiple submitters Cardiovascular phenotype
  • p.Pro244= Multiple submitters Cardiovascular phenotype
  • p.Pro458= Multiple submitters Cardiovascular phenotype
  • p.Pro469= Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Pro75= Multiple submitters Cardiovascular phenotype
  • p.Ser23= Multiple submitters Cardiovascular phenotype
  • p.Ser411= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser473= Multiple submitters Cardiovascular phenotype
  • p.Ser484= Multiple submitters Cardiovascular phenotype
  • p.Thr233= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr343= Multiple submitters Cardiovascular phenotype
  • p.Thr503= Multiple submitters Cardiovascular phenotype
  • p.Thr546Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr5Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Tyr455= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val311= Multiple submitters Cardiovascular phenotype

Likely benign 545

Showing the top 300 by review status; the full set is in the sitemap.

  • c.816+3G>T Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Gly545Ser Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Lys439Thr Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Ser615Leu Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val483Ile Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Val588Ile Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • c.1134+9A>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1273-4G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1312-12G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.1312-189A>C Multiple submitters
  • c.1429-8C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1686+6T>G Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1686+8G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1687-157G>C Multiple submitters
  • c.1687-7C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1852+23G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.1853-14GCTCCC[3] Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.524-13C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.690-4G>A Multiple submitters Cardiovascular phenotype
  • c.690-5C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.817-5A>G Multiple submitters hereditary hemorrhagic telangiectasia
  • c.817-8A>G Multiple submitters hereditary hemorrhagic telangiectasia
  • c.-120G>T Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala15= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala175= Multiple submitters Cardiovascular phenotype
  • p.Ala202= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala218= Multiple submitters Cardiovascular phenotype
  • p.Ala243= Multiple submitters Cardiovascular phenotype
  • p.Ala249= Multiple submitters Cardiovascular phenotype
  • p.Ala364= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala418Pro Multiple submitters Cardiovascular phenotype
  • p.Ala57= Multiple submitters Cardiovascular phenotype
  • p.Ala591= Multiple submitters Cardiovascular phenotype
  • p.Ala60Val Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ala84Pro Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ala9= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Arg171= Multiple submitters Cardiovascular phenotype
  • p.Arg192Gly Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Arg197= Multiple submitters Cardiovascular phenotype
  • p.Arg205Trp Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Arg333= Multiple submitters Cardiovascular phenotype
  • p.Arg406= Multiple submitters Cardiovascular phenotype
  • p.Arg571His Multiple submitters Cardiovascular phenotype
  • p.Asn102= Multiple submitters Cardiovascular phenotype
  • p.Asn465= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Asp264= Multiple submitters Cardiovascular phenotype
  • p.Asp365= Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Asp398= Multiple submitters Cardiovascular phenotype
  • p.Asp578= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Cys242= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Cys330= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Cys363= Multiple submitters Cardiovascular phenotype
  • p.Cys493= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Gln270Arg Multiple submitters Cardiovascular phenotype
  • p.Gln560= Multiple submitters Cardiovascular phenotype
  • p.Glu129= Multiple submitters Cardiovascular phenotype
  • p.Glu152= Multiple submitters Cardiovascular phenotype
  • p.Glu217= Multiple submitters Cardiovascular phenotype
  • p.Glu63= Multiple submitters Cardiovascular phenotype
  • p.Gly332= Multiple submitters Cardiovascular phenotype
  • p.Gly400= Multiple submitters Cardiovascular phenotype
  • p.Gly509= Multiple submitters Cardiovascular phenotype
  • p.Gly586= Multiple submitters Cardiovascular phenotype
  • p.Gly594= Multiple submitters Cardiovascular phenotype
  • p.His441= Multiple submitters Cardiovascular phenotype
  • p.His65= Multiple submitters Cardiovascular phenotype
  • p.Ile220= Multiple submitters Cardiovascular phenotype
  • p.Ile263= Multiple submitters Cardiovascular phenotype
  • p.Ile322Thr Multiple submitters Cardiovascular phenotype
  • p.Ile359= Multiple submitters Cardiovascular phenotype
  • p.Ile467= Multiple submitters Cardiovascular phenotype
  • p.Ile602= Multiple submitters Cardiovascular phenotype
  • p.Leu109= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu118= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu138= Multiple submitters Cardiovascular phenotype
  • p.Leu138Pro Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Leu147= Multiple submitters Cardiovascular phenotype
  • p.Leu194= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu209= Multiple submitters Cardiovascular phenotype
  • p.Leu221= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu224= Multiple submitters Cardiovascular phenotype
  • p.Leu251= Multiple submitters Cardiovascular phenotype
  • p.Leu262= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu32= Multiple submitters Cardiovascular phenotype
  • p.Leu325= Multiple submitters Cardiovascular phenotype
  • p.Leu334= Multiple submitters Cardiovascular phenotype
  • p.Leu370= Multiple submitters Cardiovascular phenotype
  • p.Leu405= Multiple submitters Cardiovascular phenotype
  • p.Leu430= Multiple submitters Cardiovascular phenotype
  • p.Leu495= Multiple submitters Cardiovascular phenotype
  • p.Leu593= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Leu78= Multiple submitters Cardiovascular phenotype
  • p.Leu80= Multiple submitters Cardiovascular phenotype
  • p.Met420Thr Multiple submitters Cardiovascular phenotype
  • p.Met570Ile Multiple submitters Cardiovascular phenotype
  • p.Phe106= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Phe290= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Phe314= Multiple submitters Cardiovascular phenotype
  • p.Phe403= Multiple submitters Cardiovascular phenotype
  • p.Pro139= Multiple submitters Cardiovascular phenotype
  • p.Pro198= Multiple submitters Cardiovascular phenotype
  • p.Pro256= Multiple submitters Cardiovascular phenotype
  • p.Pro338= Multiple submitters Cardiovascular phenotype
  • p.Pro352= Multiple submitters Cardiovascular phenotype
  • p.Pro37= Multiple submitters Cardiovascular phenotype
  • p.Pro469Leu Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Pro499= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Pro528= Multiple submitters Cardiovascular phenotype
  • p.Ser167= Multiple submitters Cardiovascular phenotype
  • p.Ser180Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser241Asn Multiple submitters Cardiovascular phenotype
  • p.Ser357= Multiple submitters Cardiovascular phenotype
  • p.Ser410= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser432= Multiple submitters Cardiovascular phenotype
  • p.Ser433= Multiple submitters Cardiovascular phenotype
  • p.Ser434= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser482= Multiple submitters Cardiovascular phenotype
  • p.Ser50= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Ser615= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr157Ile Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr193= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr336= Multiple submitters Cardiovascular phenotype
  • p.Thr349= Multiple submitters Cardiovascular phenotype
  • p.Thr385= Multiple submitters Cardiovascular phenotype
  • p.Thr544= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Thr550= Multiple submitters Cardiovascular phenotype
  • p.Thr557= Multiple submitters Cardiovascular phenotype
  • p.Thr617= Multiple submitters Cardiovascular phenotype
  • p.Thr73Met Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Tyr258= Multiple submitters Cardiovascular phenotype
  • p.Tyr277= Multiple submitters Cardiovascular phenotype
  • p.Tyr537= Multiple submitters Cardiovascular phenotype
  • p.Tyr612= Multiple submitters Cardiovascular phenotype
  • p.Val105= Multiple submitters Cardiovascular phenotype
  • p.Val212= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val236= Multiple submitters Cardiovascular phenotype
  • p.Val250Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Val35= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val426= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val475= Multiple submitters Cardiovascular phenotype
  • p.Val479= Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Val568= Multiple submitters Cardiovascular phenotype
  • p.Val64= Multiple submitters Cardiovascular phenotype
  • p.Val95Leu Multiple submitters Cardiovascular phenotype ⚠
  • c.1134+12C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1134+16C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1134+17C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1134+92G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-10del Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-15del Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-18C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-20G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-4C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+10G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+10G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+13G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+14C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+16A>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+8C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-10A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-14C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-14C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-15_1273-8dup Single submitter
  • c.1273-18C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-19C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-19C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1311+15C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1311+18G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1311+89C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-10C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-110_1312-109dup Single submitter
  • c.1312-13C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-16_1312-13del Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-16T>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-19C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-20T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-4C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-7C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+10A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+11T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+127G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1428+13C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+18C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+20C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+8G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-16C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-4G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-5T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-6A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-7dup Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-9C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1686+15G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1686+18C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1686+312C>T Single submitter
  • c.1686+317A>G Single submitter
  • c.1686+76G>T Single submitter
  • c.1686+8G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1686+9G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1687-13C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1687-15C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1687-17C>T Single submitter
  • c.1687-18_1687-17insTGCG Single submitter hereditary hemorrhagic telangiectasia
  • c.1687-19CT[3] Single submitter hereditary hemorrhagic telangiectasia
  • c.1741+79G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1741+8C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1742-10C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1742-12G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1742-135G>A Single submitter
  • c.1742-19T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1742-28C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1742-8C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1742-9C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1852+11C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1852+25G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1853-27C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.219+12A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.219+12dup Single submitter hereditary hemorrhagic telangiectasia
  • c.219+13T>A Single submitter hereditary hemorrhagic telangiectasia
  • c.219+19G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.219+20G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.220-11G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.220-13_220-12del Single submitter hereditary hemorrhagic telangiectasia
  • c.220-15_220-13del Single submitter hereditary hemorrhagic telangiectasia
  • c.220-16C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.220-6C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.220-9G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.360+12C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.361-12_361-11del Single submitter hereditary hemorrhagic telangiectasia
  • c.361-19C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.361-20G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.361-5C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.361-8C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.523+10C>T Single submitter
  • c.523+16A>C Single submitter hereditary hemorrhagic telangiectasia
  • c.523+18C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.523+235C>T Single submitter
  • c.524-10G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.524-11T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.524-14G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.524-14G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.524-18G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.524-19G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.524-6C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.524-8C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.67+20G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.67+254A>G Single submitter
  • c.67+7G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.68-18C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.68-256A>G Single submitter
  • c.68-9C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.689+11C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.689+12G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.689+12G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.689+14C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.689+15C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.689+15C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.689+16C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.689+20C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.689+21_689+22del Single submitter hereditary hemorrhagic telangiectasia
  • c.690-16G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.690-16G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.690-17C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.690-17C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.690-18G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.690-18G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.690-19C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.690-19del Single submitter hereditary hemorrhagic telangiectasia
  • c.816+11C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.816+13C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.816+14A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.816+19C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.816+8G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.816+9T>A Single submitter hereditary hemorrhagic telangiectasia
  • c.817-27_817-26del Single submitter hereditary hemorrhagic telangiectasia
  • c.817-7_817-5del Single submitter Cardiovascular phenotype
  • c.991+7A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.991+8C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.992-4A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.992-6C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.992-7C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.992-8C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.992-9A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.-289A>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-343C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*133C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*149G>C Single submitter
  • c.*19G>A Single submitter
  • c.*449C>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*491C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*492G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*523A>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*558A>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*86C>T Single submitter
  • p.Ala11= Single submitter Cardiovascular phenotype
  • p.Ala111Thr Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala186= Single submitter Cardiovascular phenotype
  • p.Ala213= Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala213Asp Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala229= Single submitter Cardiovascular phenotype
  • p.Ala308= Single submitter Cardiovascular phenotype

Uncertain significance 495

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1312-3C>G Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • c.-9G>A Expert panel telangiectasia, hereditary hemorrhagic, type 1
  • p.Arg571Cys Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Met420Val Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Thr654Ser Expert panel telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • c.1429-13C>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.219+3G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.67+3A>G Multiple submitters hereditary hemorrhagic telangiectasia
  • c.67+5G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.68-4A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.992-3C>G Multiple submitters Cardiovascular phenotype
  • c.-126G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.-339C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.-59C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.-69G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.-79C>T Multiple submitters hereditary hemorrhagic telangiectasia
  • c.-90G>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • c.*150C>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala111Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala202Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala303Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala367Pro Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ala378Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala425Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala425Val Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ala552Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg39Lys Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Arg566Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn307Asp Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Asn428His Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn444Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp189Tyr Multiple submitters ENG-related disorder ⚠
  • p.Asp264Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp491Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys516Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln166Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln166Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Gln297Glu Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Gln462Arg Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Gln562His Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Glu353Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly113Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly514Val Multiple submitters ⚠
  • p.Gly594Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Gly645Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly89Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.His215Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.His267_Asn268del Multiple submitters telangiectasia, hereditary hemorrhagic, type 1
  • p.His379Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile168Asn Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ile252Phe Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ile359Ser Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ile359Thr Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Ile421Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Ile575Met Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Leu12Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Leu162Pro Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Leu169Phe Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Leu251His Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Leu317Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Leu355Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu587Phe Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Lys280Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys513Arg Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Met356Arg Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Met356Thr Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Met414Thr Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Met445Ile Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Met657Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Phe68_Leu69del Multiple submitters Cardiovascular phenotype
  • p.Pro115Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro198Thr Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Pro21Ser Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Pro225Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Pro225Thr Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Pro231Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro256Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Pro318Leu Multiple submitters ⚠
  • p.Pro75Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser104Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser167Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Ser167Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ser228Thr Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ser23Thr Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ser473Arg Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Ser635Leu Multiple submitters ENG-related disorder ⚠
  • p.Thr235Met Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Thr273Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Thr343Ala Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Thr369Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Thr388Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Thr46Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Thr583Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr583Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Tyr120Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Tyr277Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Tyr44His Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val10Ile Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Val125Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val259Gly Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Val592Met Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • p.Val626Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • c.1134+2dup Single submitter hereditary hemorrhagic telangiectasia
  • c.1134+6G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1135-3C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1272+2dup Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-21_1273-20delinsAT Single submitter hereditary hemorrhagic telangiectasia
  • c.1273-3C>A Single submitter
  • c.1273-4_1273-3delinsAA Single submitter hereditary hemorrhagic telangiectasia
  • c.1311+103C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1311+6A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1312-13C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+5C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1428+5C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-127A>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1429-3C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1429-5T>G Single submitter Cardiovascular phenotype
  • c.1686+3G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1852+16C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1852+1G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1852+21_1852+22del Single submitter
  • c.1852+21C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.1852+30dup Single submitter
  • c.1852+3G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.1852+51C>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1852+52G>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1853-18C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.1853-9C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.219+5G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.220-12T>A Single submitter hereditary hemorrhagic telangiectasia
  • c.360+6T>G Single submitter
  • c.361-3C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.361-4_361-3delinsAG Single submitter hereditary hemorrhagic telangiectasia
  • c.524-12del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.67+3A>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.67+4G>A Single submitter
  • c.67+5G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.67+6_67+14del Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.689+3A>T Single submitter hereditary hemorrhagic telangiectasia
  • c.690-5C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.816+6T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.817-3T>C Single submitter hereditary hemorrhagic telangiectasia
  • c.992-3C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.992-5C>G Single submitter Cardiovascular phenotype
  • c.-105del Single submitter hereditary hemorrhagic telangiectasia
  • c.-111G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-112C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-115G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-116C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-117C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-123G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-12C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-133C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-141G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-153G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-154C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-170C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-174A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.-200C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-213C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-21A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.-227C>G Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-23G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-249C>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-24C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-289A>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-2G>A Single submitter
  • c.-2G>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-338G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-35A>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-364G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-395C>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.-46C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-56A>G Single submitter hereditary hemorrhagic telangiectasia
  • c.-59C>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-61C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-62G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-70del Single submitter hereditary hemorrhagic telangiectasia
  • c.-75G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-76C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-77C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.-78G>A Single submitter hereditary hemorrhagic telangiectasia
  • c.-83C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-91C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.-94C>G Single submitter hereditary hemorrhagic telangiectasia
  • c.-99C>T Single submitter hereditary hemorrhagic telangiectasia
  • c.*109C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*252C>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*266G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*273A>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*391G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*424G>C Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*438G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*4C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*530T>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*533G>A Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*534C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • c.*586C>T Single submitter telangiectasia, hereditary hemorrhagic, type 1
  • p.Ala119Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala11Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala151Ser Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala159Pro Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala159Ser Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala186Thr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala229Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala243Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala249Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ala265Asp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala308_Ser309insThr Single submitter hereditary hemorrhagic telangiectasia
  • p.Ala312_Val323del Single submitter
  • p.Ala312Val Single submitter ⚠
  • p.Ala327Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala367Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala408Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala418_Met420delinsTyr Single submitter Cardiovascular phenotype
  • p.Ala425Thr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala512Thr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala512Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala552Pro Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala57Asp Single submitter Cardiovascular phenotype ⚠
  • p.Ala57Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala604Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala609Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Ala631Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala633Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala9Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg153Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg192_Thr193insSer Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg197Pro Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg199Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg199Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg232Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg232Leu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg3Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg510_Gly514del Single submitter
  • p.Arg510Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg510Trp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg571Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg571Ser Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg618Cys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg618Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg623Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg623Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg93Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asn268del Single submitter hereditary hemorrhagic telangiectasia
  • p.Asn465Asp Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asn573Ile Single submitter Cardiovascular phenotype ⚠
  • p.Asp164Glu Single submitter ⚠
  • p.Asp246Val Single submitter ⚠
  • p.Asp248His Single submitter ⚠
  • p.Asp264_Asn266del Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp31Asn Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp365Gly Single submitter Cardiovascular phenotype ⚠
  • p.Asp365Tyr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp366_Ala367insAsp Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp391Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp398Asn Single submitter ⚠
  • p.Asp446Asn Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp446Tyr Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp491Ala Single submitter ⚠
  • p.Asp491His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp496Asn Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Asp561Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Cys330Phe Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Cys363Trp Single submitter ⚠
  • p.Cys516Gly Single submitter ⚠
  • p.Cys53Ser Single submitter ⚠
  • p.Cys582Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln145His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln166His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln174Pro Single submitter ⚠
  • p.Gln254Leu Single submitter Cardiovascular phenotype ⚠
  • p.Gln270Lys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln33Pro Single submitter ⚠
  • p.Gln342His Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln342Lys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln436Pro Single submitter Cardiovascular phenotype ⚠
  • p.Gln462His Single submitter Cardiovascular phenotype ⚠
  • p.Gln471His Single submitter Cardiovascular phenotype ⚠
  • p.Gln472Glu Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln476Arg Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln508His Single submitter Cardiovascular phenotype ⚠
  • p.Gln562Pro Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Gln83His Single submitter Cardiovascular phenotype ⚠
  • p.Glu137Asp Single submitter ⚠
  • p.Glu137Gln Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu137Gly Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu161Ala Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu195del Single submitter Cardiovascular phenotype
  • p.Glu195Lys Single submitter telangiectasia, hereditary hemorrhagic, type 1 ⚠
  • p.Glu210Asp Single submitter Cardiovascular phenotype ⚠
  • p.Glu239Gly Single submitter Cardiovascular phenotype ⚠
  • p.Glu239Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu316Lys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu353Gln Single submitter Cardiovascular phenotype ⚠
  • p.Glu424Val Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu468Gln Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu485Lys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Glu500Gln Single submitter Cardiovascular phenotype ⚠
  • p.Glu63Lys Single submitter Cardiovascular phenotype ⚠