ACVR1 — 424 ClinVar variants
All ClinVar germline ACVR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
8 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 6 Conflicting · 44 Benign · 7 Benign/Likely benign · 150 Likely benign · 207 Uncertain significance
Full ACVR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 lean, ClinVar uncertain 110
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACVR1 p.Ala134Thr Uncertain significance Multiple submitters
-
ACVR1 p.Arg147Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Arg417Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACVR1 p.Asn174Ser Uncertain significance Multiple submitters
-
ACVR1 p.Gly39Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.His121Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Ile236Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Lys446Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Pro87Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Pro9Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Ser18Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Ser304Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Ser469Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACVR1 p.Thr249Met Uncertain significance Multiple submitters
-
ACVR1 p.Thr83Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Tyr381Cys
Uncertain significance
Multiple submitters
congenital heart disease
-
ACVR1 p.Val393Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACVR1 p.Ala134Ser Uncertain significance Single submitter
-
ACVR1 p.Ala139Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACVR1 p.Ala358Glu
Uncertain significance
Single submitter
fibrodysplasia ossificans progressiva
- ACVR1 p.Ala406Thr Uncertain significance Single submitter
- ACVR1 p.Arg156Leu Uncertain significance Single submitter
- ACVR1 p.Arg160Gly Uncertain significance Single submitter
- ACVR1 p.Arg375Cys Uncertain significance Single submitter
- ACVR1 p.Arg375His Uncertain significance Single submitter
- ACVR1 p.Arg380Cys Uncertain significance Single submitter
-
ACVR1 p.Arg401Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Arg417Trp Uncertain significance Single submitter
- ACVR1 p.Arg490His Uncertain significance Single submitter
- ACVR1 p.Arg490Pro Uncertain significance Single submitter
- ACVR1 p.Asn437Ser Uncertain significance Single submitter
- ACVR1 p.Asp426Glu Uncertain significance Single submitter
- ACVR1 p.Asp433Gly Uncertain significance Single submitter
- ACVR1 p.Asp464Glu Uncertain significance Single submitter
- ACVR1 p.Asp503Glu Uncertain significance Single submitter
- ACVR1 p.Asp61Asn Uncertain significance Single submitter
- ACVR1 p.Asp61Gly Uncertain significance Single submitter
- ACVR1 p.Cys213Tyr Uncertain significance Single submitter
-
ACVR1 p.Cys35Arg
Uncertain significance
Single submitter
fibrodysplasia ossificans progressiva
- ACVR1 p.Cys509Arg Uncertain significance Single submitter
- ACVR1 p.Cys53Arg Uncertain significance Single submitter
-
ACVR1 p.Gln106His
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Gln207His Uncertain significance Single submitter
- ACVR1 p.Glu22Gln Uncertain significance Single submitter
- ACVR1 p.Glu22Val Uncertain significance Single submitter
- ACVR1 p.Glu248Ala Uncertain significance Single submitter
- ACVR1 p.Glu92Lys Uncertain significance Single submitter
- ACVR1 p.Gly191Glu Uncertain significance Single submitter
- ACVR1 p.Gly195Asp Uncertain significance Single submitter
-
ACVR1 p.His121Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACVR1 p.His274Tyr
Uncertain significance
Single submitter
fibrodysplasia ossificans progressiva
- ACVR1 p.His320Pro Uncertain significance Single submitter
- ACVR1 p.Ile14Val Uncertain significance Single submitter
- ACVR1 p.Ile167Met Uncertain significance Single submitter
- ACVR1 p.Ile171Leu Uncertain significance Single submitter
- ACVR1 p.Ile171Val Uncertain significance Single submitter
- ACVR1 p.Ile266Asn Uncertain significance Single submitter
- ACVR1 p.Leu141Pro Uncertain significance Single submitter
- ACVR1 p.Leu170Phe Uncertain significance Single submitter
- ACVR1 p.Leu319Phe Uncertain significance Single submitter
- ACVR1 p.Leu40Phe Uncertain significance Single submitter
- ACVR1 p.Leu467Ser Uncertain significance Single submitter
- ACVR1 p.Leu57Pro Uncertain significance Single submitter
- ACVR1 p.Lys27Glu Uncertain significance Single submitter
- ACVR1 p.Lys31Arg Uncertain significance Single submitter
- ACVR1 p.Lys338Asn Uncertain significance Single submitter
- ACVR1 p.Lys340Glu Uncertain significance Single submitter
- ACVR1 p.Lys400Glu Uncertain significance Single submitter
- ACVR1 p.Lys497Asn Uncertain significance Single submitter
- ACVR1 p.Met288Ile Uncertain significance Single submitter
- ACVR1 p.Met288Leu Uncertain significance Single submitter
- ACVR1 p.Met360Ile Uncertain significance Single submitter
- ACVR1 p.Met360Val Uncertain significance Single submitter
- ACVR1 p.Met418Thr Uncertain significance Single submitter
-
ACVR1 p.Met444Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Met474Thr Uncertain significance Single submitter
- ACVR1 p.Met79Leu Uncertain significance Single submitter
- ACVR1 p.Phe462Ser Uncertain significance Single submitter
- ACVR1 p.Pro115Ser Uncertain significance Single submitter
- ACVR1 p.Pro19Ala Uncertain significance Single submitter
-
ACVR1 p.Pro19Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Pro19Ser Uncertain significance Single submitter
- ACVR1 p.Pro330Ser Uncertain significance Single submitter
-
ACVR1 p.Pro384Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Pro430Leu Uncertain significance Single submitter
- ACVR1 p.Pro465Ser Uncertain significance Single submitter
- ACVR1 p.Ser178Arg Uncertain significance Single submitter
- ACVR1 p.Ser187Leu Uncertain significance Single submitter
- ACVR1 p.Ser226Asn Uncertain significance Single submitter
- ACVR1 p.Ser469Ala Uncertain significance Single submitter
-
ACVR1 p.Thr179Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Thr298Ser Uncertain significance Single submitter
-
ACVR1 p.Thr468Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Thr487Ile Uncertain significance Single submitter
- ACVR1 p.Thr494Ala Uncertain significance Single submitter
-
ACVR1 p.Thr496Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Thr496Ser Uncertain significance Single submitter
- ACVR1 p.Trp461Arg Uncertain significance Single submitter
- ACVR1 p.Tyr219Phe Uncertain significance Single submitter
-
ACVR1 p.Tyr292His
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Val162Ala Uncertain significance Single submitter
- ACVR1 p.Val234Met Uncertain significance Single submitter
- ACVR1 p.Val36Ala Uncertain significance Single submitter
- ACVR1 p.Val393Gly Uncertain significance Single submitter
- ACVR1 p.Val402Ile Uncertain significance Single submitter
- ACVR1 p.Val402Phe Uncertain significance Single submitter
- ACVR1 p.Val435Ala Uncertain significance Single submitter
- ACVR1 p.Val91Met Uncertain significance Single submitter
-
ACVR1 p.Gly220Cys
Uncertain significance
No assertion criteria
ACVR1-related disorder
-
ACVR1 p.Val36Leu
Uncertain significance
No assertion criteria
ACVR1-related disorder
Predictors split 59
The independent predictors disagree with each other — read with care.
-
ACVR1 p.Arg307Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACVR1 p.Glu212Gln Uncertain significance Multiple submitters
-
ACVR1 p.Ile352Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Pro330Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Pro84Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Ser311Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACVR1 p.Ser41Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACVR1 p.Val144Ala Uncertain significance Multiple submitters
-
ACVR1 p.Val419Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACVR1 p.Ala105Val Uncertain significance Single submitter
- ACVR1 p.Ala313Gly Uncertain significance Single submitter
- ACVR1 p.Arg101Gly Uncertain significance Single submitter
- ACVR1 p.Arg152Cys Uncertain significance Single submitter
- ACVR1 p.Arg152His Uncertain significance Single submitter
- ACVR1 p.Arg156Cys Uncertain significance Single submitter
-
ACVR1 p.Arg224Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Arg307Leu Uncertain significance Single submitter
- ACVR1 p.Asn231Ile Uncertain significance Single submitter
- ACVR1 p.Asn253Ser Uncertain significance Single submitter
-
ACVR1 p.Asn366Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Asn366Ser Uncertain significance Single submitter
- ACVR1 p.Asp161Asn Uncertain significance Single submitter
- ACVR1 p.Asp397Asn Uncertain significance Single submitter
- ACVR1 p.Asp433Asn Uncertain significance Single submitter
- ACVR1 p.Cys213Ser Uncertain significance Single submitter
- ACVR1 p.Gln363His Uncertain significance Single submitter
- ACVR1 p.Gln392Pro Uncertain significance Single submitter
- ACVR1 p.Gln480Glu Uncertain significance Single submitter
- ACVR1 p.Glu155Gly Uncertain significance Single submitter
-
ACVR1 p.Glu212Asp
Conflicting
Single submitter
Inborn genetic diseases
- ACVR1 p.Glu242Asp Uncertain significance Single submitter
-
ACVR1 p.Gly176Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Gly39Ser Conflicting Single submitter
- ACVR1 p.Gly43Ser Likely benign Single submitter
- ACVR1 p.Gly96Glu Uncertain significance Single submitter
- ACVR1 p.His186Pro Uncertain significance Single submitter
- ACVR1 p.His186Tyr Uncertain significance Single submitter
- ACVR1 p.His47Asp Uncertain significance Single submitter
- ACVR1 p.Leu122Ser Uncertain significance Single submitter
- ACVR1 p.Leu157Phe Uncertain significance Single submitter
- ACVR1 p.Leu467Ile Uncertain significance Single submitter
- ACVR1 p.Lys150Glu Uncertain significance Single submitter
- ACVR1 p.Lys346Asn Uncertain significance Single submitter
- ACVR1 p.Met79Thr Uncertain significance Single submitter
-
ACVR1 p.Phe71Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACVR1 p.Pro17Arg Uncertain significance Single submitter
- ACVR1 p.Pro374Ser Uncertain significance Single submitter
-
ACVR1 p.Pro465Leu
Conflicting
Single submitter
Inborn genetic diseases
- ACVR1 p.Pro84Gln Uncertain significance Single submitter
- ACVR1 p.Ser130Cys Uncertain significance Single submitter
- ACVR1 p.Ser440Gly Uncertain significance Single submitter
- ACVR1 p.Thr104Met Uncertain significance Single submitter
- ACVR1 p.Thr299Ser Uncertain significance Single submitter
- ACVR1 p.Thr468Ile Uncertain significance Single submitter
- ACVR1 p.Tyr479Cys Uncertain significance Single submitter
- ACVR1 p.Val131Leu Uncertain significance Single submitter
- ACVR1 p.Val132Ala Uncertain significance Single submitter
- ACVR1 p.Val370Ala Likely benign Single submitter
- ACVR1 p.Val450Met Uncertain significance Single submitter
All ACVR1 variants
Pathogenic 8
- p.Arg206His Multiple submitters Inborn genetic diseases
- p.Gly356Asp Multiple submitters fibrodysplasia ossificans progressiva
- p.Gly328Arg Single submitter fibrodysplasia ossificans progressiva
- p.Arg202Ile No assertion criteria fibrodysplasia ossificans progressiva
- p.Arg258Ser No assertion criteria fibrodysplasia ossificans progressiva
- p.Arg375Pro No assertion criteria fibrodysplasia ossificans progressiva
- p.Gly328Trp No assertion criteria fibrodysplasia ossificans progressiva
- p.Leu196Pro No assertion criteria fibrodysplasia ossificans progressiva
Pathogenic/Likely pathogenic 1
- p.Gly328Glu Multiple submitters Inborn genetic diseases
Likely pathogenic 1
- p.Arg258Gly Single submitter fibrodysplasia ossificans progressiva
Conflicting classifications of pathogenicity 6
- p.Cys42= Single submitter fibrodysplasia ossificans progressiva
- p.Glu212Asp Single submitter Inborn genetic diseases ⚠
- p.Gly39Ser Single submitter ⚠
- p.Pro465= Single submitter
- p.Pro465Leu Single submitter Inborn genetic diseases ⚠
- p.Thr466= Single submitter
Benign 44
- c.1067-225T>C Multiple submitters
- c.1396-138G>A Multiple submitters
- c.544-112C>T Multiple submitters
- c.643+7C>T Multiple submitters fibrodysplasia ossificans progressiva
- c.68-25T>C Multiple submitters fibrodysplasia ossificans progressiva
- c.68-26T>C Multiple submitters
- c.*138G>A Multiple submitters fibrodysplasia ossificans progressiva
- c.*358G>A Multiple submitters fibrodysplasia ossificans progressiva
- c.*45G>T Multiple submitters fibrodysplasia ossificans progressiva
- c.*686T>C Multiple submitters fibrodysplasia ossificans progressiva
- p.Ala90= Multiple submitters fibrodysplasia ossificans progressiva
- p.Glu230= Multiple submitters fibrodysplasia ossificans progressiva
- p.Gly377= Multiple submitters fibrodysplasia ossificans progressiva
- p.Leu505= Multiple submitters fibrodysplasia ossificans progressiva
- p.Ser362= Multiple submitters fibrodysplasia ossificans progressiva
- p.Tyr33= Multiple submitters fibrodysplasia ossificans progressiva
- c.1395+7A>G Single submitter
- c.1396-231A>G Single submitter
- c.1396-8C>T Single submitter
- c.332-197T>C Single submitter
- c.643+134A>G Single submitter
- c.643+15dup Single submitter
- c.643+166T>G Single submitter
- c.643+181T>A Single submitter
- c.67+192T>A Single submitter
- c.67+45_67+46dup Single submitter
- c.67+45dup Single submitter
- c.68-236del Single submitter
- c.68-25del Single submitter
- c.68-321C>T Single submitter
- c.791-15dup Single submitter
- c.-13A>G Single submitter fibrodysplasia ossificans progressiva
- c.-182-10C>T Single submitter fibrodysplasia ossificans progressiva
- c.-183+919A>G Single submitter fibrodysplasia ossificans progressiva
- c.-53C>T Single submitter fibrodysplasia ossificans progressiva
- c.*152G>A Single submitter fibrodysplasia ossificans progressiva
- c.*183G>A Single submitter fibrodysplasia ossificans progressiva
- c.*47C>T Single submitter fibrodysplasia ossificans progressiva
- c.*762A>G Single submitter fibrodysplasia ossificans progressiva
- c.*791A>T Single submitter fibrodysplasia ossificans progressiva
- p.Pro26Ser Single submitter
- p.Ser290= Single submitter
- p.Thr104= Single submitter
- p.Val65Ile Single submitter
Benign/Likely benign 7
- c.644-3T>C Multiple submitters fibrodysplasia ossificans progressiva
- p.Ala15Gly Multiple submitters fibrodysplasia ossificans progressiva
- p.His47Gln Multiple submitters multiple congenital anomalies/dysmorphic syndrome
- p.Leu138= Multiple submitters
- p.Leu502= Multiple submitters fibrodysplasia ossificans progressiva
- p.Lys150= Multiple submitters fibrodysplasia ossificans progressiva
- p.Val162Met Multiple submitters fibrodysplasia ossificans progressiva
Likely benign 150
- c.1395+5G>A Multiple submitters fibrodysplasia ossificans progressiva
- p.Ala353= Multiple submitters
- p.Asn60= Multiple submitters
- p.His64= Multiple submitters
- p.Phe396= Multiple submitters
- p.Pro85= Multiple submitters
- p.Tyr292= Multiple submitters Inborn genetic diseases
- p.Tyr66= Multiple submitters
- c.1066+17A>G Single submitter
- c.1066+18T>C Single submitter
- c.1067-13T>G Single submitter
- c.1067-15T>C Single submitter
- c.1067-16A>T Single submitter
- c.1067-8C>T Single submitter
- c.1264+13T>C Single submitter
- c.1264+19A>C Single submitter
- c.1265-6G>T Single submitter
- c.1265-7T>G Single submitter
- c.1395+13G>A Single submitter
- c.1395+15T>C Single submitter
- c.1395+20del Single submitter
- c.1396-20T>G Single submitter
- c.331+10G>A Single submitter
- c.331+11A>G Single submitter
- c.331+12C>A Single submitter
- c.331+13T>C Single submitter
- c.331+15T>C Single submitter
- c.331+16T>C Single submitter
- c.331+7A>G Single submitter
- c.332-10C>T Single submitter
- c.332-15T>C Single submitter
- c.332-20C>T Single submitter
- c.332-4C>A Single submitter
- c.543+12C>A Single submitter
- c.543+13C>G Single submitter
- c.543+17C>T Single submitter
- c.543+20G>A Single submitter
- c.544-12C>T Single submitter
- c.544-14G>A Single submitter
- c.544-14G>T Single submitter
- c.544-18C>G Single submitter
- c.544-18C>T Single submitter
- c.544-7A>T Single submitter
- c.643+14T>C Single submitter
- c.643+16C>T Single submitter
- c.644-10C>T Single submitter
- c.644-18A>G Single submitter
- c.644-19del Single submitter
- c.644-4A>G Single submitter
- c.67+10_67+11del Single submitter
- c.67+45_67+47dup Single submitter
- c.67+9C>T Single submitter
- c.68-11C>T Single submitter
- c.68-12T>C Single submitter
- c.68-26_68-25del Single submitter
- c.68-38dup Single submitter
- c.68-6T>C Single submitter
- c.68-8C>T Single submitter
- c.68-9C>G Single submitter
- c.790+19C>T Single submitter
- c.790+9A>G Single submitter
- c.791-12del Single submitter
- c.791-4C>T Single submitter
- p.Ala205= Single submitter
- p.Ala233= Single submitter
- p.Ala383= Single submitter
- p.Ala383Val Single submitter fibrodysplasia ossificans progressiva
- p.Ala406= Single submitter
- p.Arg206= Single submitter
- p.Arg240= Single submitter
- p.Arg258= Single submitter
- p.Arg273= Single submitter
- p.Arg454= Single submitter
- p.Arg490Cys Single submitter
- p.Asn119= Single submitter
- p.Asn261= Single submitter
- p.Asn456= Single submitter
- p.Asp161= Single submitter
- p.Asp293= Single submitter
- p.Asp503= Single submitter
- p.Asp61= Single submitter
- p.Cys351= Single submitter
- p.Cys99= Single submitter
- p.Gln201= Single submitter
- p.Glu221= Single submitter
- p.Glu260= Single submitter
- p.Glu322= Single submitter
- p.Glu49= Single submitter
- p.Glu92= Single submitter
- p.Gly229= Single submitter
- p.Gly356= Single submitter
- p.Gly43Ser Single submitter ⚠
- p.Gly4Glu Single submitter
- p.Ile12Met Single submitter Inborn genetic diseases
- p.Ile12Val Single submitter
- p.Ile167= Single submitter
- p.Ile491= Single submitter
- p.Leu122= Single submitter
- p.Leu157= Single submitter
- p.Leu184= Single submitter
- p.Leu196= Single submitter
- p.Leu251= Single submitter
- p.Leu257= Single submitter
- p.Leu297= Single submitter
- p.Leu310= Single submitter
- p.Leu319= Single submitter
- p.Leu357= Single submitter
- p.Leu409= Single submitter
- p.Leu473= Single submitter
- p.Leu486= Single submitter
- p.Lys112Asn Single submitter
- p.Lys446= Single submitter
- p.Phe133= Single submitter
- p.Phe237= Single submitter
- p.Phe63Ser Single submitter
- p.Pro108= Single submitter
- p.Pro17= Single submitter
- p.Pro19= Single submitter
- p.Pro384= Single submitter
- p.Pro430= Single submitter
- p.Pro436= Single submitter
- p.Pro458= Single submitter
- p.Pro84= Single submitter
- p.Pro9= Single submitter
- p.Ser187= Single submitter
- p.Ser239= Single submitter
- p.Ser398= Single submitter
- p.Ser483= Single submitter
- p.Thr249= Single submitter
- p.Thr298= Single submitter
- p.Thr326= Single submitter
- p.Thr468= Single submitter
- p.Tyr219Ter Single submitter fibrodysplasia ossificans progressiva
- p.Tyr252= Single submitter
- p.Tyr399= Single submitter
- p.Tyr432= Single submitter
- p.Val175= Single submitter
- p.Val204= Single submitter
- p.Val222= Single submitter
- p.Val234= Single submitter
- p.Val28= Single submitter
- p.Val359= Single submitter
- p.Val370Ala Single submitter ⚠
- p.Val376Met Single submitter
- p.Val393= Single submitter
- p.Val402= Single submitter
- p.Val434= Single submitter
- p.Val450= Single submitter
- c.1067-4dup No assertion criteria ACVR1-related disorder
- p.Arg380= No assertion criteria ACVR1-related disorder
Uncertain significance 207
- c.1396-2dup Multiple submitters fibrodysplasia ossificans progressiva
- p.Ala134Thr Multiple submitters ⚠
- p.Arg147Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg307Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg417Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn174Ser Multiple submitters ⚠
- p.Glu212Gln Multiple submitters ⚠
- p.Gly39Val Multiple submitters Inborn genetic diseases ⚠
- p.His121Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile236Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile352Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys446Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro330Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro84Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro87Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro9Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser18Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser304Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser311Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser41Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser469Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr249Met Multiple submitters ⚠
- p.Thr83Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr381Cys Multiple submitters congenital heart disease ⚠
- p.Val144Ala Multiple submitters ⚠
- p.Val393Met Multiple submitters Inborn genetic diseases ⚠
- p.Val419Leu Multiple submitters Inborn genetic diseases ⚠
- c.1264+5G>T Single submitter
- c.332-12_361del Single submitter
- c.67+3A>T Single submitter
- c.67+4A>G Single submitter
- c.-183+673C>G Single submitter fibrodysplasia ossificans progressiva
- c.-183+822G>A Single submitter fibrodysplasia ossificans progressiva
- c.-55C>T Single submitter fibrodysplasia ossificans progressiva
- c.-99G>A Single submitter fibrodysplasia ossificans progressiva
- c.*137C>T Single submitter fibrodysplasia ossificans progressiva
- c.*182C>T Single submitter fibrodysplasia ossificans progressiva
- c.*210A>C Single submitter fibrodysplasia ossificans progressiva
- c.*250C>G Single submitter fibrodysplasia ossificans progressiva
- c.*314A>C Single submitter fibrodysplasia ossificans progressiva
- c.*421G>A Single submitter fibrodysplasia ossificans progressiva
- c.*500G>A Single submitter fibrodysplasia ossificans progressiva
- c.*711A>G Single submitter fibrodysplasia ossificans progressiva
- c.*751T>G Single submitter fibrodysplasia ossificans progressiva
- c.*752A>G Single submitter fibrodysplasia ossificans progressiva
- p.Ala105Val Single submitter ⚠
- p.Ala134= Single submitter
- p.Ala134Ser Single submitter ⚠
- p.Ala139Val Single submitter Inborn genetic diseases ⚠
- p.Ala181= Single submitter
- p.Ala313Gly Single submitter ⚠
- p.Ala358Glu Single submitter fibrodysplasia ossificans progressiva ⚠
- p.Ala406Thr Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg152His Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156Leu Single submitter ⚠
- p.Arg160Gly Single submitter ⚠
- p.Arg160Ter Single submitter
- p.Arg202Glu Single submitter
- p.Arg224Lys Single submitter Inborn genetic diseases ⚠
- p.Arg307Leu Single submitter ⚠
- p.Arg375Cys Single submitter ⚠
- p.Arg375His Single submitter ⚠
- p.Arg380Cys Single submitter ⚠
- p.Arg401Ser Single submitter Inborn genetic diseases ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg490His Single submitter ⚠
- p.Arg490Pro Single submitter ⚠
- p.Asn231Ile Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asn366Lys Single submitter Inborn genetic diseases ⚠
- p.Asn366Ser Single submitter ⚠
- p.Asn437Ser Single submitter ⚠
- p.Asp161Asn Single submitter ⚠
- p.Asp397Asn Single submitter ⚠
- p.Asp426Glu Single submitter ⚠
- p.Asp433Asn Single submitter ⚠
- p.Asp433Gly Single submitter ⚠
- p.Asp464Glu Single submitter ⚠
- p.Asp503Glu Single submitter ⚠
- p.Asp508Ter Single submitter
- p.Asp61Asn Single submitter ⚠
- p.Asp61Gly Single submitter ⚠
- p.Cys213Ser Single submitter ⚠
- p.Cys213Tyr Single submitter ⚠
- p.Cys35Arg Single submitter fibrodysplasia ossificans progressiva ⚠
- p.Cys509Arg Single submitter ⚠
- p.Cys53Arg Single submitter ⚠
- p.Gln106His Single submitter Inborn genetic diseases ⚠
- p.Gln207His Single submitter ⚠
- p.Gln363His Single submitter ⚠
- p.Gln392Pro Single submitter ⚠
- p.Gln480Glu Single submitter ⚠
- p.Glu155Gly Single submitter ⚠
- p.Glu155Ter Single submitter
- p.Glu212Ter Single submitter
- p.Glu22= Single submitter
- p.Glu22Gln Single submitter ⚠
- p.Glu22Val Single submitter ⚠
- p.Glu230Gly Single submitter
- p.Glu242Asp Single submitter ⚠
- p.Glu248Ala Single submitter ⚠
- p.Glu425del Single submitter
- p.Glu92Lys Single submitter ⚠
- p.Gly176Ala Single submitter Inborn genetic diseases ⚠
- p.Gly191Glu Single submitter ⚠
- p.Gly195Asp Single submitter ⚠
- p.Gly96Glu Single submitter ⚠
- p.His121Arg Single submitter Inborn genetic diseases ⚠
- p.His186Pro Single submitter ⚠
- p.His186Tyr Single submitter ⚠
- p.His274Tyr Single submitter fibrodysplasia ossificans progressiva ⚠
- p.His286fs Single submitter
- p.His320Pro Single submitter ⚠
- p.His47Asp Single submitter ⚠
- p.Ile14Val Single submitter ⚠
- p.Ile167Met Single submitter ⚠
- p.Ile171Leu Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile262_Leu263insTer Single submitter
- p.Ile266Asn Single submitter ⚠
- p.Leu122Ser Single submitter ⚠
- p.Leu141Pro Single submitter ⚠
- p.Leu157Phe Single submitter ⚠
- p.Leu170Phe Single submitter ⚠
- p.Leu263Ter Single submitter
- p.Leu319Phe Single submitter ⚠
- p.Leu343= Single submitter fibrodysplasia ossificans progressiva
- p.Leu40Phe Single submitter ⚠
- p.Leu467Ile Single submitter ⚠
- p.Leu467Ser Single submitter ⚠
- p.Leu495fs Single submitter
- p.Leu57Pro Single submitter ⚠
- p.Lys150Glu Single submitter ⚠
- p.Lys27Glu Single submitter ⚠
- p.Lys31Arg Single submitter ⚠
- p.Lys338Asn Single submitter ⚠
- p.Lys340Glu Single submitter ⚠
- p.Lys346Asn Single submitter ⚠
- p.Lys400Glu Single submitter ⚠
- p.Lys497Asn Single submitter ⚠
- p.Met1Val Single submitter
- p.Met288Ile Single submitter ⚠
- p.Met288Leu Single submitter ⚠
- p.Met34fs Single submitter
- p.Met360Ile Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Met418Thr Single submitter ⚠
- p.Met444Arg Single submitter Inborn genetic diseases ⚠
- p.Met474Thr Single submitter ⚠
- p.Met79Leu Single submitter ⚠
- p.Met79Thr Single submitter ⚠
- p.Phe462Ser Single submitter ⚠
- p.Phe71Leu Single submitter Inborn genetic diseases ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro17Arg Single submitter ⚠
- p.Pro19Ala Single submitter ⚠
- p.Pro19Leu Single submitter Inborn genetic diseases ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro330Ser Single submitter ⚠
- p.Pro374Ser Single submitter ⚠
- p.Pro384Ser Single submitter Inborn genetic diseases ⚠
- p.Pro430Leu Single submitter ⚠
- p.Pro465Ser Single submitter ⚠
- p.Pro482fs Single submitter
- p.Pro84Gln Single submitter ⚠
- p.Ser130Cys Single submitter ⚠
- p.Ser178Arg Single submitter ⚠
- p.Ser187Leu Single submitter ⚠
- p.Ser226Asn Single submitter ⚠
- p.Ser41fs Single submitter
- p.Ser440Gly Single submitter ⚠
- p.Ser469Ala Single submitter ⚠
- p.Thr104Met Single submitter ⚠
- p.Thr179Ile Single submitter Inborn genetic diseases ⚠
- p.Thr298Ser Single submitter ⚠
- p.Thr299Ser Single submitter ⚠
- p.Thr468Ile Single submitter ⚠
- p.Thr468Ser Single submitter Inborn genetic diseases ⚠
- p.Thr487Ile Single submitter ⚠
- p.Thr494Ala Single submitter ⚠
- p.Thr496Ile Single submitter Inborn genetic diseases ⚠
- p.Thr496Ser Single submitter ⚠
- p.Trp461Arg Single submitter ⚠
- p.Tyr219Phe Single submitter ⚠
- p.Tyr292His Single submitter Inborn genetic diseases ⚠
- p.Tyr33Ter Single submitter
- p.Tyr479Cys Single submitter ⚠
- p.Tyr74Ter Single submitter
- p.Val131Leu Single submitter ⚠
- p.Val132Ala Single submitter ⚠
- p.Val144Phe Single submitter
- p.Val162Ala Single submitter ⚠
- p.Val214= Single submitter
- p.Val234Met Single submitter ⚠
- p.Val36Ala Single submitter ⚠
- p.Val393Gly Single submitter ⚠
- p.Val402Ile Single submitter ⚠
- p.Val402Phe Single submitter ⚠
- p.Val414= Single submitter
- p.Val435Ala Single submitter ⚠
- p.Val450Met Single submitter ⚠
- p.Val91Met Single submitter ⚠
- p.Gly220Cys No assertion criteria ACVR1-related disorder ⚠
- p.Val36Leu No assertion criteria ACVR1-related disorder ⚠