Sugi Variant

Sugi Variant/ACVRL1

ACVRL1 — 1209 ClinVar variants

All ClinVar germline ACVRL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

302 Pathogenic · 80 Pathogenic/Likely pathogenic · 139 Likely pathogenic · 83 Conflicting · 69 Benign · 28 Benign/Likely benign · 227 Likely benign · 281 Uncertain significance

Full ACVRL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 263

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 8

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

Predictors agree, ClinVar conflicts 49

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 161

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 161

Predictors split 43

The independent predictors disagree with each other — read with care.

All ACVRL1 variants

Pathogenic 302

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

  • p.Arg411Gln Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys207fs Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln490Ter Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu236Lys Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser333Ile Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp406Ter Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • c.1246+1G>A Multiple submitters Cardiovascular phenotype
  • c.1246+2T>C Multiple submitters Cardiovascular phenotype
  • c.1378-1G>A Multiple submitters Cardiovascular phenotype
  • c.313+1G>T Multiple submitters ACVRL1-related disorder
  • c.525+1del Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.525+1G>A Multiple submitters Cardiovascular phenotype
  • c.525+2T>C Multiple submitters Cardiovascular phenotype
  • c.625+1G>T Multiple submitters Cardiovascular phenotype
  • c.626-2A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.772+1G>C Multiple submitters Cardiovascular phenotype
  • p.Ala377Thr Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala49fs Multiple submitters ACVRL1-related disorder
  • p.Arg144Ter Multiple submitters Cardiovascular phenotype
  • p.Arg291Ter Multiple submitters Cardiovascular phenotype
  • p.Arg374Gln Multiple submitters ACVRL1-related disorder
  • p.Arg479Ter Multiple submitters ACVRL1-related disorder
  • p.Arg47fs Multiple submitters Cardiovascular phenotype
  • p.Arg484Gln Multiple submitters ACVRL1-related disorder
  • p.Arg484Trp Multiple submitters Cardiovascular phenotype
  • p.Arg61fs Multiple submitters Cardiovascular phenotype
  • p.Cys308Ter Multiple submitters Cardiovascular phenotype
  • p.Cys344Phe Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys344Tyr Multiple submitters Cardiovascular phenotype
  • p.Cys34Ter Multiple submitters Cardiovascular phenotype
  • p.Cys34Tyr Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys471Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys51Tyr Multiple submitters Cardiovascular phenotype
  • p.Cys69Arg Multiple submitters Cardiovascular phenotype
  • p.Cys69Ter Multiple submitters Cardiovascular phenotype
  • p.Cys90Phe Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys90Trp Multiple submitters Cardiovascular phenotype
  • p.Gln112Ter Multiple submitters Cardiovascular phenotype
  • p.Gln169Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln201Ter Multiple submitters Cardiovascular phenotype
  • p.Gln292Ter Multiple submitters Cardiovascular phenotype
  • p.Gln321Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln343Ter Multiple submitters Cardiovascular phenotype
  • p.Gln357Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln466Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln64Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu159Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu242Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu281Ter Multiple submitters Cardiovascular phenotype
  • p.Glu391Ter Multiple submitters ACVRL1-related disorder
  • p.Glu407Asp Multiple submitters Cardiovascular phenotype
  • p.Glu65fs Multiple submitters Cardiovascular phenotype
  • p.Glu65Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly214fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly29fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly309Asp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly319Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly350Arg Multiple submitters Cardiovascular phenotype
  • p.His297fs Multiple submitters Cardiovascular phenotype
  • p.His314Tyr Multiple submitters Cardiovascular phenotype
  • p.His328Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.His87fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile417fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu138fs Multiple submitters Cardiovascular phenotype
  • p.Leu289Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu337fs Multiple submitters Cardiovascular phenotype
  • p.Lys25_Pro26delinsSerCysTer Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys25fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro23fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro39fs Multiple submitters Cardiovascular phenotype
  • p.Pro424Arg Multiple submitters Cardiovascular phenotype
  • p.Pro433Ser Multiple submitters Cardiovascular phenotype
  • p.Pro44fs Multiple submitters Cardiovascular phenotype
  • p.Pro452Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser233del Multiple submitters Cardiovascular phenotype
  • p.Ser270fs Multiple submitters Cardiovascular phenotype
  • p.Ser305Pro Multiple submitters Cardiovascular phenotype
  • p.Ser462Ter Multiple submitters Cardiovascular phenotype
  • p.Thr248fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr387fs Multiple submitters Cardiovascular phenotype
  • p.Thr450fs Multiple submitters Cardiovascular phenotype
  • p.Thr82fs Multiple submitters Cardiovascular phenotype
  • p.Trp217Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Trp221Ter Multiple submitters Cardiovascular phenotype
  • p.Trp239Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp274Ter Multiple submitters Cardiovascular phenotype
  • p.Trp399Gly Multiple submitters Cardiovascular phenotype
  • p.Tyr375fs Multiple submitters Cardiovascular phenotype
  • p.Tyr88Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Val126fs Multiple submitters Cardiovascular phenotype
  • c.1043_1048+1dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+1G>T Single submitter Cardiovascular phenotype
  • c.1048+2T>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1246+1G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+2T>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-216C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-2A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.303_313+2del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.313+1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.313+1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.525+1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.525+3A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+1del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.626-1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.773-2A>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala120_Leu121insTer Single submitter Cardiovascular phenotype
  • p.Ala134fs Single submitter Cardiovascular phenotype
  • p.Ala306fs Single submitter
  • p.Ala307fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala311fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala325fs Single submitter Cardiovascular phenotype
  • p.Ala327Asp Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala352fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala456fs Single submitter Cardiovascular phenotype
  • p.Ala482Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg144fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg145fs Single submitter Cardiovascular phenotype
  • p.Arg146fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg151fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg196Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg200Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg291fs Single submitter
  • p.Arg301fs Single submitter Cardiovascular phenotype
  • p.Arg410_Thr412del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg411_Asn415del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg411Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg479Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg67fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg67Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg80fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn247Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn335fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn96His Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp171fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp181fs Single submitter
  • p.Asp22fs Single submitter Cardiovascular phenotype
  • p.Asp235fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp263Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp263fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp287fs Single submitter Cardiovascular phenotype
  • p.Asp330Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp330Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp348fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp348Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp348His Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp348Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp382fs Single submitter
  • p.Asp437fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp437Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp91fs Single submitter
  • p.Cys207Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys207Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys344Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys345fs Single submitter
  • p.Cys345Phe Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys345Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys34Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys34fs Single submitter Cardiovascular phenotype
  • p.Cys34Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys36Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys36fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys41Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys41Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys443Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys443Ter Single submitter Cardiovascular phenotype
  • p.Cys46fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys471Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys471Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys69Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys77Trp Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys89Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln112fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln118Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln147fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln147Ter Single submitter
  • p.Gln169fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln195Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln201Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln20Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln237Ter Single submitter
  • p.Gln272fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln272Ter Single submitter ACVRL1-related disorder
  • p.Gln290Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln321fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln343Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln446fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln447Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln64fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu104Ter Single submitter Cardiovascular phenotype
  • p.Glu159fs Single submitter Cardiovascular phenotype
  • p.Glu168fs Single submitter Cardiovascular phenotype
  • p.Glu215Ter Single submitter Cardiovascular phenotype
  • p.Glu224Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu224Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu383Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu407Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu470fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu75fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu75Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu83Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly211Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly211Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly219Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly219fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly283_Ser284insTer Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly309Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly358fs Single submitter
  • p.Gly402Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly43fs Single submitter Cardiovascular phenotype
  • p.Gly48Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly48Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His280fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His312fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His97_Asn98del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile230fs Single submitter ACVRL1-related disorder
  • p.Ile256fs Single submitter Cardiovascular phenotype
  • p.Leu121fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu127fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu162fs Single submitter ACVRL1-related disorder
  • p.Leu17fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu289fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu294Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu294fs Single submitter
  • p.Leu298fs Single submitter Cardiovascular phenotype
  • p.Leu302Arg Single submitter
  • p.Leu313Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu313Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu31fs Single submitter Cardiovascular phenotype
  • p.Leu461fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu483fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu72fs Single submitter Cardiovascular phenotype
  • p.Lys229Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys229Met Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys25Ter Single submitter Cardiovascular phenotype
  • p.Lys332fs Single submitter Cardiovascular phenotype
  • p.Lys339Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys439Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Met15fs Single submitter
  • p.Met376Arg Single submitter Cardiovascular phenotype
  • p.Met376Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe192fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe318fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe331Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro109fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro30fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro378His Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro424Leu Single submitter Cardiovascular phenotype
  • p.Pro449Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro476del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser167fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser172fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser188fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser225fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser238fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser269fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser269Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser27fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser305fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser434fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr243fs Single submitter Cardiovascular phenotype
  • p.Thr293fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr45fs Single submitter Cardiovascular phenotype
  • p.Thr52fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp141Ter Single submitter Cardiovascular phenotype
  • p.Trp217fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp221fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp239fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp395Ter Single submitter hereditary hemorrhagic telangiectasia
  • p.Trp399Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp406fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp50Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Tyr213Ter Single submitter Cardiovascular phenotype
  • p.Tyr286Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Tyr361Ter Single submitter Cardiovascular phenotype
  • p.Tyr375Ter Single submitter Cardiovascular phenotype
  • p.Tyr421fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Tyr421Ter Single submitter
  • p.Tyr473Ter Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val208fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val24fs Single submitter Cardiovascular phenotype
  • p.Val380Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val428fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val429fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val442fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val460fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val99fs Single submitter
  • p.Ala478Asp No assertion criteria pulmonary hypertension, primary, 1
  • p.Arg484fs No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Asp263Gly No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Asp427Val No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Gln201Arg No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Gly463_Leu464insTer No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Gly463fs No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Gly48_Ala49delinsGluPro No assertion criteria telangiectasia, hereditary hemorrhagic, type 2
  • p.His312Gln No assertion criteria pulmonary hypertension, primary, 1
  • p.Ile398Asn No assertion criteria telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu13fs No assertion criteria Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • p.Thr372fs No assertion criteria telangiectasia, hereditary hemorrhagic, type 2

Pathogenic/Likely pathogenic 80

  • c.1048+1G>A Multiple submitters Cardiovascular phenotype
  • c.1377+1G>A Multiple submitters hereditary hemorrhagic telangiectasia
  • c.525+1G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.526-1G>A Multiple submitters Cardiovascular phenotype
  • c.526-7C>G Multiple submitters Cardiovascular phenotype
  • c.625+1G>A Multiple submitters ACVRL1-related disorder
  • c.625+2T>C Multiple submitters ACVRL1-related disorder
  • c.626-3C>G Multiple submitters Cardiovascular phenotype
  • c.772+5G>A Multiple submitters Cardiovascular phenotype
  • p.Ala306Pro Multiple submitters Cardiovascular phenotype
  • p.Ala352Asp Multiple submitters ACVRL1-related disorder
  • p.Ala377Val Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala400Asp Multiple submitters Cardiovascular phenotype
  • p.Ala400fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala400Thr Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala400Val Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg329His Multiple submitters Cardiovascular phenotype
  • p.Arg374Trp Multiple submitters Cardiovascular phenotype
  • p.Arg411Trp Multiple submitters Cardiovascular phenotype
  • p.Arg479Gln Multiple submitters ACVRL1-related disorder
  • p.Arg47Pro Multiple submitters ACVRL1-related disorder ⚠
  • p.Arg484Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg484Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg67Gln Multiple submitters ACVRL1-related disorder ⚠
  • p.Arg67Gly Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg67Trp Multiple submitters ACVRL1-related disorder ⚠
  • p.Arg7fs Multiple submitters Cardiovascular phenotype
  • p.Asn96Asp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn96Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp254del Multiple submitters Cardiovascular phenotype
  • p.Cys182Ter Multiple submitters Cardiovascular phenotype
  • p.Cys344Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys69Phe Multiple submitters Cardiovascular phenotype
  • p.Cys89Arg Multiple submitters ACVRL1-related disorder
  • p.Cys90Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys90Tyr Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln343_Leu349del Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln384Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln446Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu379Lys Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Glu407Lys Multiple submitters ACVRL1-related disorder
  • p.Gly136fs Multiple submitters ACVRL1-related disorder
  • p.Gly211Asp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly258Ser Multiple submitters ACVRL1-related disorder ⚠
  • p.Gly283fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly309Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly48Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile346_Ala347delinsThr Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile346fs Multiple submitters Cardiovascular phenotype
  • p.Leu273Pro Multiple submitters Cardiovascular phenotype
  • p.Leu285Phe Multiple submitters Cardiovascular phenotype
  • p.Leu342Pro Multiple submitters ACVRL1-related disorder
  • p.Leu349Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu480Phe Multiple submitters Cardiovascular phenotype
  • p.Lys323Glu Multiple submitters Cardiovascular phenotype
  • p.Met376Val Multiple submitters Cardiovascular phenotype
  • p.Met438Thr Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe425Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro378Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro378Ser Multiple submitters Cardiovascular phenotype
  • p.Pro424Ser Multiple submitters ACVRL1-related disorder
  • p.Pro449Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro476Leu Multiple submitters Cardiovascular phenotype
  • p.Ser110Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser233Trp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser305Phe Multiple submitters Cardiovascular phenotype
  • p.Thr197Ile Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr277Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr277Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr372Ile Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp217Gly Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp399Ser Multiple submitters Cardiovascular phenotype
  • p.Trp406Cys Multiple submitters Cardiovascular phenotype
  • p.Trp472Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr421Asp Multiple submitters ACVRL1-related disorder
  • p.Tyr426Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Val226Glu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Val441Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Val442Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg484Gly No assertion criteria pulmonary hypertension, primary, 1

Likely pathogenic 139

  • p.Asn98Ser Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Cys46Ser Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys51Gly Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys89Phe Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.His328Tyr Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser186Ile Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • c.1049-1G>A Multiple submitters Cardiovascular phenotype
  • c.1378-78T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.61+1G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.61+1G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala306Glu Multiple submitters ACVRL1-related disorder
  • p.Ala347Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg374Gly Multiple submitters ACVRL1-related disorder
  • p.Cys51Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys77Arg Multiple submitters Cardiovascular phenotype
  • p.Gly211Val Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly350Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly79Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.His280Arg Multiple submitters Cardiovascular phenotype
  • p.Pro433His Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro476Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp50Arg Multiple submitters hereditary hemorrhagic telangiectasia ⚠
  • c.1030_1048+18del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+2T>G Single submitter
  • c.1048+5G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1049-1G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1231_1246+4dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1247-1G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1247-2A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.313_313+1del Single submitter Cardiovascular phenotype
  • c.313+2T>C Single submitter Cardiovascular phenotype
  • c.525+3A>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-1G>C Single submitter Cardiovascular phenotype
  • c.61+2T>A Single submitter ACVRL1-related disorder
  • c.61+2T>C Single submitter
  • c.62-1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.62-2A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.62-36_66delinsTGAAG Single submitter Cardiovascular phenotype
  • c.621_625+3del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.626-1G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.773-3C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala306delinsValThr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala352Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala400Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg241fs Single submitter ACVRL1-related disorder
  • p.Arg329fs Single submitter
  • p.Arg374Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg454fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Arg479fs Single submitter ACVRL1-related disorder
  • p.Arg479Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn335Ile Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn341Lys Single submitter Cardiovascular phenotype
  • p.Asn415fs Single submitter
  • p.Asp176Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp263Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp330Asn Single submitter Cardiovascular phenotype
  • p.Asp330His Single submitter hereditary hemorrhagic telangiectasia
  • p.Asp397Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp397Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp445fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys36Tyr Single submitter Cardiovascular phenotype
  • p.Cys41Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys41Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys46Gly Single submitter ACVRL1-related disorder
  • p.Cys46Tyr Single submitter ACVRL1-related disorder
  • p.Cys471Trp Single submitter ACVRL1-related disorder
  • p.Cys51Phe Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys51Trp Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys69Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys89Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys89Trp Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys95Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln107Ter Single submitter ACVRL1-related disorder
  • p.Gln466fs Single submitter Cardiovascular phenotype
  • p.Glu379Ala Single submitter Cardiovascular phenotype
  • p.Glu379Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu379Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu407Gln Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly209Arg Single submitter Cardiovascular phenotype
  • p.Gly219Asp Single submitter Cardiovascular phenotype
  • p.Gly219Val Single submitter Cardiovascular phenotype
  • p.Gly309Val Single submitter Cardiovascular phenotype
  • p.Gly319Asp Single submitter Cardiovascular phenotype
  • p.Gly371Asp Single submitter ACVRL1-related disorder
  • p.Gly371Val Single submitter ACVRL1-related disorder
  • p.His312Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His314Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His314Gln Single submitter Cardiovascular phenotype
  • p.His328Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His328Gln Single submitter Cardiovascular phenotype
  • p.Ile230Phe Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile276fs Single submitter ACVRL1-related disorder
  • p.Ile276Ser Single submitter Cardiovascular phenotype
  • p.Leu101fs Single submitter
  • p.Leu135fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu285Pro Single submitter Cardiovascular phenotype
  • p.Leu310fs Single submitter ACVRL1-related disorder
  • p.Leu337Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu351fs Single submitter hemophilia A
  • p.Leu381Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu403Pro Single submitter Cardiovascular phenotype
  • p.Leu455fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Leu480Ile Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys229Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys323Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys332Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys487Gln Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys487Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe240fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe288Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Phe288Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe425del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe425Ile Single submitter Cardiovascular phenotype
  • p.Pro378Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro424Ala Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Pro424Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro449His Single submitter ACVRL1-related disorder
  • p.Pro459fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser333Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr197Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr19fs Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr265_Arg267delinsSer Single submitter Cardiovascular phenotype
  • p.Thr271Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr277Met Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr481fs Single submitter ACVRL1-related disorder
  • p.Thr52Pro Single submitter Cardiovascular phenotype
  • p.Trp274Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp399Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Trp406Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Trp472fs Single submitter
  • p.Trp50Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Tyr286fs Single submitter hereditary hemorrhagic telangiectasia
  • p.Tyr375His Single submitter Cardiovascular phenotype
  • p.Tyr375Phe Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Tyr421Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val336Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val338Phe Single submitter Cardiovascular phenotype
  • p.Val429Leu Single submitter
  • p.Val216Gly No assertion criteria pulmonary arterial hypertension

Conflicting classifications of pathogenicity 83

  • c.1246+5G>A Single submitter Cardiovascular phenotype
  • c.1378-69C>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.313+7C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.314-15del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-22_526-12del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-6C>G Single submitter Cardiovascular phenotype
  • c.526-7C>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.772+1G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • c.-52G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2277A>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala307Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala311Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala327Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala478Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg200Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg386His Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg386Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg410Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg454Gln Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg454Trp Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg469Gln Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg469Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg57Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg80His Single submitter Cardiovascular phenotype ⚠
  • p.Asn335Ser Single submitter Cardiovascular phenotype ⚠
  • p.Asp330Trp Single submitter Cardiovascular phenotype
  • p.Asp348Asn Single submitter ACVRL1-related disorder ⚠
  • p.Cys345Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Cys77Tyr Single submitter ACVRL1-related disorder ⚠
  • p.Cys90= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu215Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu316Asp Single submitter Cardiovascular phenotype ⚠
  • p.Glu379Gln Single submitter ACVRL1-related disorder ⚠
  • p.Gly214Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly283Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly350Val Single submitter ACVRL1-related disorder ⚠
  • p.Gly365Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly371Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly416Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly70Arg Single submitter Cardiovascular phenotype
  • p.Gly79Glu Single submitter Cardiovascular phenotype ⚠
  • p.His222Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.His297Arg Single submitter Cardiovascular phenotype ⚠
  • p.Ile317Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ile398Phe Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ile417Phe Single submitter Cardiovascular phenotype ⚠
  • p.Leu101= Single submitter Cardiovascular phenotype
  • p.Leu123= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu193Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu275Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu3= Single submitter Cardiovascular phenotype
  • p.Leu302Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu337Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu489Pro Single submitter Cardiovascular phenotype ⚠
  • p.Lys165= Single submitter Cardiovascular phenotype
  • p.Lys440del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys486Glu Single submitter Cardiovascular phenotype ⚠
  • p.Lys487del Single submitter Cardiovascular phenotype
  • p.Met173Thr Single submitter Cardiovascular phenotype ⚠
  • p.Phe231del Single submitter Cardiovascular phenotype
  • p.Pro433Leu Single submitter Cardiovascular phenotype ⚠
  • p.Ser155= Single submitter Cardiovascular phenotype
  • p.Ser233Leu Single submitter ACVRL1-related disorder ⚠
  • p.Ser284Phe Single submitter Cardiovascular phenotype ⚠
  • p.Ser333Arg Single submitter Cardiovascular phenotype ⚠
  • p.Ser477fs Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser495Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr197Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr35= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr481Ile Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr52Ala Single submitter Cardiovascular phenotype ⚠
  • p.Trp472Cys Single submitter Cardiovascular phenotype ⚠
  • p.Tyr279_His280insTyr Single submitter Cardiovascular phenotype
  • p.Tyr375Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Tyr375Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Tyr88Cys Single submitter Cardiovascular phenotype ⚠
  • p.Val126Met Single submitter Cardiovascular phenotype ⚠
  • p.Val143= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val228Ile Single submitter Cardiovascular phenotype ⚠
  • p.Val418Met Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val442Met Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val53Ala Single submitter Cardiovascular phenotype ⚠
  • p.Val85Ile Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠

Benign 69

  • c.1246+19C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1246+9C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+249TG[18] Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+297T>A Multiple submitters
  • c.1377+326G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+65A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-155T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-217A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-248T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-30T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-339T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-405A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.313+11C>T Multiple submitters Cardiovascular phenotype
  • c.314-35A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.314-65G>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.61+22A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.62-196C>G Multiple submitters
  • c.625+110_625+130del Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.625+164T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.626-53C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.-46C>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.-5-227C>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.-5-33C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*1041G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*1042C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*1246T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*1926T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*2313G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*2380C>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*2398G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*560T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*869C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*913C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser110= Multiple submitters Cardiovascular phenotype
  • p.Val249= Multiple submitters Cardiovascular phenotype
  • c.1377+248_1377+251dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+249TG[19] Single submitter
  • c.1377+249TG[21] Single submitter
  • c.1377+249TG[22] Single submitter
  • c.1377+636C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+700C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+745G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-556C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-625CCTGGGATGGGTTGATGAGCTT[3] Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-699C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-711C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.313+40G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.314-49G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+110_625+121del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+110_625+125del Single submitter
  • c.772+132TTTAA[10] Single submitter
  • c.772+132TTTAA[11] Single submitter
  • c.772+132TTTAA[8] Single submitter
  • c.772+27G>C Single submitter
  • c.772+305T>A Single submitter
  • c.-5-465A>G Single submitter
  • c.-5-468C>T Single submitter
  • c.*1021T>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1042C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1560A>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1776C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2422A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*423C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*499T>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*862G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*935G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*949C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*992A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2

Benign/Likely benign 28

  • c.1247-15A>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+249TG[23] Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+45T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-115T>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-216C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-248del Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-49C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.314-13C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.314-16T>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.526-11C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.61+7A>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.62-18T>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.62-69G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.772+24C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*2281G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*58G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala227= Multiple submitters Cardiovascular phenotype
  • p.Ala377= Multiple submitters Cardiovascular phenotype
  • p.Arg374= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp181= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys69= Multiple submitters Cardiovascular phenotype
  • p.Gly214= Multiple submitters Cardiovascular phenotype
  • p.His253= Multiple submitters Cardiovascular phenotype
  • p.Leu273= Multiple submitters Cardiovascular phenotype
  • p.Phe331= Multiple submitters Cardiovascular phenotype
  • p.Pro26= Multiple submitters Cardiovascular phenotype
  • p.Pro26Leu Multiple submitters Cardiovascular phenotype
  • p.Ser110Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2

Likely benign 227

  • p.Ala482Val Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg218Trp Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu162Phe Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro30Ser Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr450Ala Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • c.1247-13T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1247-195C>T Multiple submitters
  • c.1247-230T>C Multiple submitters
  • c.1378-11C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.62-15C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.626-59G>T Multiple submitters
  • c.772+6G>A Multiple submitters
  • c.*46T>G Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala299= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala303= Multiple submitters Cardiovascular phenotype
  • p.Ala306= Multiple submitters Cardiovascular phenotype
  • p.Ala311= Multiple submitters Cardiovascular phenotype
  • p.Ala347= Multiple submitters Cardiovascular phenotype
  • p.Ala482= Multiple submitters Cardiovascular phenotype
  • p.Arg469= Multiple submitters Cardiovascular phenotype
  • p.Asn335= Multiple submitters Cardiovascular phenotype
  • p.Asn366= Multiple submitters Cardiovascular phenotype
  • p.Asn431= Multiple submitters
  • p.Asn98= Multiple submitters Cardiovascular phenotype
  • p.Asp179Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp382= Multiple submitters Cardiovascular phenotype
  • p.Asp397= Multiple submitters Cardiovascular phenotype
  • p.Cys344= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln107= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gln503= Multiple submitters Cardiovascular phenotype
  • p.Glu37= Multiple submitters Cardiovascular phenotype
  • p.Glu391= Multiple submitters Cardiovascular phenotype
  • p.Gly124= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly29= Multiple submitters Cardiovascular phenotype
  • p.Gly309= Multiple submitters Cardiovascular phenotype
  • p.Gly43= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly60= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.His222= Multiple submitters Cardiovascular phenotype
  • p.His280= Multiple submitters Cardiovascular phenotype
  • p.His40= Multiple submitters Cardiovascular phenotype
  • p.Ile256= Multiple submitters Cardiovascular phenotype
  • p.Ile260= Multiple submitters Cardiovascular phenotype
  • p.Ile326= Multiple submitters Cardiovascular phenotype
  • p.Ile413= Multiple submitters Cardiovascular phenotype
  • p.Ile417= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu157= Multiple submitters Cardiovascular phenotype
  • p.Leu220Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu310= Multiple submitters Cardiovascular phenotype
  • p.Leu362= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu480= Multiple submitters Cardiovascular phenotype
  • p.Pro113= Multiple submitters Cardiovascular phenotype
  • p.Pro23= Multiple submitters Cardiovascular phenotype
  • p.Pro30= Multiple submitters Cardiovascular phenotype
  • p.Pro368= Multiple submitters Cardiovascular phenotype
  • p.Pro378= Multiple submitters Cardiovascular phenotype
  • p.Pro476= Multiple submitters Cardiovascular phenotype
  • p.Pro499= Multiple submitters Cardiovascular phenotype
  • p.Pro6= Multiple submitters Cardiovascular phenotype
  • p.Ser167= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser233= Multiple submitters Cardiovascular phenotype
  • p.Ser262= Multiple submitters Cardiovascular phenotype
  • p.Ser266= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser269= Multiple submitters Cardiovascular phenotype
  • p.Ser305= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser38= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr271= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr481= Multiple submitters Cardiovascular phenotype
  • p.Thr82= Multiple submitters Cardiovascular phenotype
  • p.Tyr286= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Tyr421= Multiple submitters Cardiovascular phenotype
  • p.Val102= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+11C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+12G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+55_1048+58del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+7C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+8G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1049-15G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1049-16G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1049-5C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1049-9C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1246+11A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1246+12_1246+20dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1246+16A>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1247-13del Single submitter
  • c.1247-9C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+13C>A Single submitter
  • c.1377+20T>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+55T>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1377+785G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-131C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-149G>A Single submitter
  • c.1378-198G>C Single submitter
  • c.1378-19C>T Single submitter
  • c.1378-201C>G Single submitter
  • c.1378-302C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-368T>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-417C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-4C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-69C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-91A>C Single submitter
  • c.313+7C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.314-100G>A Single submitter
  • c.314-12C>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.314-19C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.314-6C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.314-9C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.525+10T>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.525+14_525+21del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.525+7G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-10G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-7C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.61+14G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.62-14G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.62-9G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+10G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+146C>T Single submitter
  • c.625+19C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+20G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.626-16C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.626-59del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.772+27G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.773-292G>A Single submitter
  • c.773-7_773-6delinsTC Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.773-7C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.-202C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.-5-17C>T Single submitter
  • c.*1369C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*45del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*823C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*871C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala131= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala16= Single submitter
  • p.Ala166= Single submitter Cardiovascular phenotype
  • p.Ala307= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala352= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala409= Single submitter Cardiovascular phenotype
  • p.Ala478= Single submitter Cardiovascular phenotype
  • p.Arg291= Single submitter Cardiovascular phenotype
  • p.Arg301= Single submitter Cardiovascular phenotype
  • p.Arg484= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg7= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg74= Single submitter Cardiovascular phenotype
  • p.Arg80= Single submitter Cardiovascular phenotype
  • p.Asn431Ser Single submitter Cardiovascular phenotype
  • p.Asn453= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp176Glu Single submitter Cardiovascular phenotype
  • p.Asp330= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp363= Single submitter
  • p.Gln147Lys Single submitter
  • p.Gln357= Single submitter Cardiovascular phenotype
  • p.Gln490= Single submitter Cardiovascular phenotype
  • p.Gln64= Single submitter Cardiovascular phenotype
  • p.Glu242= Single submitter Cardiovascular phenotype
  • p.Glu281= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu58= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly139= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly152= Single submitter Cardiovascular phenotype
  • p.Gly158= Single submitter Cardiovascular phenotype
  • p.Gly170= Single submitter
  • p.Gly187= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly211= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly309_Leu310= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly319= Single submitter Cardiovascular phenotype
  • p.Gly365= Single submitter
  • p.Gly402= Single submitter Cardiovascular phenotype
  • p.His142= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His154= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.His282= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile163= Single submitter Cardiovascular phenotype
  • p.Ile230= Single submitter Cardiovascular phenotype
  • p.Ile364= Single submitter Cardiovascular phenotype
  • p.Ile385Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu103= Single submitter Cardiovascular phenotype
  • p.Leu127= Single submitter Cardiovascular phenotype
  • p.Leu130= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu14= Single submitter Cardiovascular phenotype
  • p.Leu153= Single submitter Cardiovascular phenotype
  • p.Leu17= Single submitter Cardiovascular phenotype
  • p.Leu190= Single submitter Cardiovascular phenotype
  • p.Leu193= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu250= Single submitter Cardiovascular phenotype
  • p.Leu251= Single submitter Cardiovascular phenotype
  • p.Leu285= Single submitter
  • p.Leu298Val Single submitter Cardiovascular phenotype
  • p.Leu300= Single submitter Cardiovascular phenotype
  • p.Leu313= Single submitter Cardiovascular phenotype
  • p.Leu337= Single submitter Cardiovascular phenotype
  • p.Leu381= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu403= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Leu489= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys323= Single submitter Cardiovascular phenotype
  • p.Lys373= Single submitter Cardiovascular phenotype
  • p.Lys498= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys8= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe318= Single submitter Cardiovascular phenotype
  • p.Phe425= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Phe84= Single submitter
  • p.Pro109= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro125= Single submitter Cardiovascular phenotype
  • p.Pro191= Single submitter Cardiovascular phenotype
  • p.Pro296= Single submitter Cardiovascular phenotype
  • p.Pro324= Single submitter Cardiovascular phenotype
  • p.Pro39= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Pro63= Single submitter Cardiovascular phenotype
  • p.Ser100= Single submitter Cardiovascular phenotype
  • p.Ser160= Single submitter Cardiovascular phenotype
  • p.Ser180= Single submitter Cardiovascular phenotype
  • p.Ser232= Single submitter Cardiovascular phenotype
  • p.Ser284= Single submitter Cardiovascular phenotype
  • p.Ser333= Single submitter Cardiovascular phenotype
  • p.Ser359= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser5= Single submitter Cardiovascular phenotype
  • p.Thr183= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr33= Single submitter Cardiovascular phenotype
  • p.Thr387= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr396= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr412= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr488= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Tyr426= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val315= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val338= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val370= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val428= Single submitter Cardiovascular phenotype
  • p.Val441= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val501= Single submitter Cardiovascular phenotype
  • p.Val53= Single submitter
  • c.1378-128G>A No assertion criteria ACVRL1-related disorder

Uncertain significance 281

  • c.1377+4A>T Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala306Val Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg47Trp Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp171Asn Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Glu148del Expert panel telangiectasia, hereditary hemorrhagic, type 2
  • p.Glu156Lys Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser167Cys Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser38Asn Expert panel telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • c.-129G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*1107G>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*131C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*132G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*205G>A Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.*2268G>C Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala303Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala306Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg144Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg145Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Arg196Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg200Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg218Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg241Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg241Trp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg267Cys Multiple submitters Cardiovascular phenotype
  • p.Arg267His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg28Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg410His Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg80Cys Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp235Gly Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp382Glu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp420Asn Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp91Asn Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Cys345Tyr Multiple submitters ACVRL1-related disorder ⚠
  • p.Gln272Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gln64Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Glu383Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Glu83Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly114Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly170Asp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly223Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly416Ala Multiple submitters hemophilia A ⚠
  • p.His355Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.His66Tyr Multiple submitters ⚠
  • p.His73Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.His87Asp Multiple submitters Cardiovascular phenotype
  • p.Ile346Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile485Val Multiple submitters hemophilia A ⚠
  • p.Leu123Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu204Ser Multiple submitters ACVRL1-related disorder ⚠
  • p.Leu257Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu351Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys373Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Pro368Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Pro459= Multiple submitters Cardiovascular phenotype
  • p.Pro459Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser225Asn Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr197Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr2Ile Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr35Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr396Ile Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Tyr246Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Tyr393Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Tyr88Asp Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val102Leu Multiple submitters ⚠
  • p.Val198Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val205= Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Val315Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val414Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val429del Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • p.Val54del Multiple submitters telangiectasia, hereditary hemorrhagic, type 2
  • c.1036_1048+7dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1044_1048+4dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+3_1048+4delinsTT Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1048+4A>T Single submitter
  • c.1048+5G>T Single submitter Cardiovascular phenotype
  • c.1246+5G>C Single submitter hereditary hemorrhagic telangiectasia
  • c.1247-1161A>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1247-7T>G Single submitter hereditary hemorrhagic telangiectasia
  • c.1378-297T>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-350C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.1378-3C>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-13T>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-30_526-20del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-3C>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.526-4C>T Single submitter
  • c.625+3G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+4del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+5G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.625+7_625+17del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.626-19C>T Single submitter
  • c.626-9G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.772+14_772+16delinsTAG Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.772+4A>C Single submitter
  • c.-168G>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.-194A>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.-4G>T Single submitter
  • c.-5-59C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.-58G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*120G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1351G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1493G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1560A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1599A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1630C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1662A>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1676T>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1689G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1777G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*1839C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*200A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2034G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2098A>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2113C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2252G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2347A>C Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*242A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2440G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*251A>G Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*2C>T Single submitter
  • c.*478G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*590G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*592G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*814G>A Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*879G>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • c.*980C>T Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala128Val Single submitter ⚠
  • p.Ala134Thr Single submitter ⚠
  • p.Ala261Asp Single submitter Cardiovascular phenotype ⚠
  • p.Ala261Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala306Leu Single submitter Cardiovascular phenotype
  • p.Ala307Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala325Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala327Val Single submitter ⚠
  • p.Ala347_Asp348insAla Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ala352Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala465Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala482Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala482Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ala49Val Single submitter ⚠
  • p.Arg151Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg151His Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg218Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Arg47Gln Single submitter ⚠
  • p.Arg61Lys Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Arg61Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asn247Ile Single submitter ⚠
  • p.Asn255Asp Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asn255del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asn335His Single submitter ⚠
  • p.Asn341Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asn71Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asn86Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp179Asn Single submitter ⚠
  • p.Asp181Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Asp360Asn Single submitter ⚠
  • p.Asp388Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Asp427del Single submitter
  • p.Asp445Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Cys389_Tyr393del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys389Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Cys389Tyr Single submitter ⚠
  • p.Cys443Phe Single submitter Cardiovascular phenotype ⚠
  • p.Cys471Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Cys77Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Cys95Tyr Single submitter Cardiovascular phenotype ⚠
  • p.Gln118Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gln169Pro Single submitter Cardiovascular phenotype ⚠
  • p.Gln237Arg Single submitter ⚠
  • p.Gln357Pro Single submitter ⚠
  • p.Gln384Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gln490Glu Single submitter ⚠
  • p.Glu159Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Glu242Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Glu436Lys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Glu75Asp Single submitter ⚠
  • p.Gly223Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly223Asp Single submitter Cardiovascular phenotype ⚠
  • p.Gly258= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Gly283Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly358Asp Single submitter Cardiovascular phenotype ⚠
  • p.Gly371Ala Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly371Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Gly43Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.His253Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.His297Tyr Single submitter ⚠
  • p.His328Asp Single submitter pulmonary arterial hypertension ⚠
  • p.His355= Single submitter Cardiovascular phenotype
  • p.Ile122Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile163Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ile245Val Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ile256Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ile260Leu Single submitter ⚠
  • p.Ile260Thr Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ile326Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ile346Met Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ile346Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ile398Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ile408Phe Single submitter hereditary hemorrhagic telangiectasia ⚠
  • p.Leu123Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu127Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu130delinsGlnAlaLeuVal Single submitter
  • p.Leu157Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu250Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu313Gln Single submitter ⚠
  • p.Leu349Arg Single submitter ⚠
  • p.Leu3Phe Single submitter ⚠
  • p.Leu405Gln Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu405Pro Single submitter ⚠
  • p.Leu455= Single submitter
  • p.Leu483Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu489Ile Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Leu72_His73del Single submitter Cardiovascular phenotype
  • p.Leu94Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys229Asn Single submitter ⚠
  • p.Lys323Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Lys332Arg Single submitter Cardiovascular phenotype ⚠
  • p.Lys394Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Lys42_Cys46del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Lys440Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Lys487Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Lys498Asn Single submitter ⚠
  • p.Met12Thr Single submitter ⚠
  • p.Met264Val Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Met468Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Phe192Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Phe390Ser Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Phe84Cys Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Pro113Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Pro113Ser Single submitter ⚠
  • p.Pro125Arg Single submitter Cardiovascular phenotype ⚠
  • p.Pro191Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Pro324Gln Single submitter ⚠
  • p.Pro430Leu Single submitter ⚠
  • p.Pro430Ser Single submitter ⚠
  • p.Pro476Thr Single submitter Cardiovascular phenotype ⚠
  • p.Pro499Ala Single submitter Cardiovascular phenotype ⚠
  • p.Pro81Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ser100Cys Single submitter Cardiovascular phenotype ⚠
  • p.Ser155Arg Single submitter Cardiovascular phenotype ⚠
  • p.Ser167Ala Single submitter Cardiovascular phenotype ⚠
  • p.Ser167Pro Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser180Gly Single submitter Cardiovascular phenotype ⚠
  • p.Ser225Ile Single submitter Cardiovascular phenotype ⚠
  • p.Ser238Phe Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser284Ala Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Ser284Pro Single submitter Cardiovascular phenotype ⚠
  • p.Ser356Leu Single submitter ⚠
  • p.Ser38Cys Single submitter Cardiovascular phenotype ⚠
  • p.Ser434_Phe435insLeuGluAspTyrArgProProPheTyrAspValValProAsnAspProSer Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Ser493fs Single submitter
  • p.Ser493Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr183Asn Single submitter ⚠
  • p.Thr197Ser Single submitter Cardiovascular phenotype ⚠
  • p.Thr271Arg Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr Single submitter Cardiovascular phenotype
  • p.Thr387Met Single submitter Cardiovascular phenotype ⚠
  • p.Thr396Asn Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Thr412Asn Single submitter Cardiovascular phenotype ⚠
  • p.Thr412His Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Thr488Ile Single submitter ⚠
  • p.Thr82Asn Single submitter ⚠
  • p.Trp141Cys Single submitter Cardiovascular phenotype ⚠
  • p.Trp274Arg Single submitter Cardiovascular phenotype ⚠
  • p.Trp472Arg Single submitter Cardiovascular phenotype ⚠
  • p.Tyr426Asn Single submitter
  • p.Val126Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val205del Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val216_Gly219dup Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val216Ala Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val216Leu Single submitter hemophilia A ⚠
  • p.Val249Ala Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val338Gly Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val380Leu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val404Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val429Glu Single submitter telangiectasia, hereditary hemorrhagic, type 2 ⚠
  • p.Val442= Single submitter telangiectasia, hereditary hemorrhagic, type 2
  • p.Val444Ala Single submitter Cardiovascular phenotype ⚠
  • p.Val460Ala Single submitter Cardiovascular phenotype ⚠
  • p.Cys36Phe No assertion criteria ACVRL1-related disorder ⚠
  • p.Gln503Ter No assertion criteria
  • p.Val460Ile No assertion criteria ACVRL1-related disorder ⚠