SMAD2 — 483 ClinVar variants
All ClinVar germline SMAD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
23 Pathogenic · 5 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 2 Conflicting · 25 Benign · 16 Benign/Likely benign · 194 Likely benign · 206 Uncertain significance
Full SMAD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
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 144
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SMAD2 p.Ala392Thr Uncertain significance Multiple submitters
-
SMAD2 p.Ala395Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Arg114His Uncertain significance Multiple submitters
- SMAD2 p.Arg130Gln Uncertain significance Multiple submitters
- SMAD2 p.Arg310Ser Uncertain significance Multiple submitters
- SMAD2 p.Arg337Cys Uncertain significance Multiple submitters
-
SMAD2 p.Asn307Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Asn318Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Asn361Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Asn91Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Cys81Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Gln236His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Gln388Arg
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 6
-
SMAD2 p.Ile127Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Ile186Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Ile217Val Uncertain significance Multiple submitters
- SMAD2 p.Ile332Thr Uncertain significance Multiple submitters
-
SMAD2 p.Leu338Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Leu440Phe Uncertain significance Multiple submitters
-
SMAD2 p.Pro191Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Pro435Ser Uncertain significance Multiple submitters
-
SMAD2 p.Pro9Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Ser460Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD2 p.Ser88Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Thr243Ala Uncertain significance Multiple submitters
- SMAD2 p.Thr253Ala Uncertain significance Multiple submitters
-
SMAD2 p.Thr92Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Ala323Thr Uncertain significance Single submitter
-
SMAD2 p.Ala323Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Ala392Ser Uncertain significance Single submitter
- SMAD2 p.Arg120Gln Uncertain significance Single submitter
-
SMAD2 p.Arg133His
Uncertain significance
Single submitter
SMAD2-related disorder
- SMAD2 p.Arg321Gln Uncertain significance Single submitter
- SMAD2 p.Arg462His Uncertain significance Single submitter
-
SMAD2 p.Arg57Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Asn163Lys Uncertain significance Single submitter
-
SMAD2 p.Asn238His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Asn258Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Asn361Thr
Uncertain significance
Single submitter
Loeys-Dietz syndrome 6
- SMAD2 p.Asn363Ser Uncertain significance Single submitter
- SMAD2 p.Asn387Lys Uncertain significance Single submitter
- SMAD2 p.Asn71Thr Uncertain significance Single submitter
- SMAD2 p.Asn91Ser Uncertain significance Single submitter
- SMAD2 p.Asp112Glu Uncertain significance Single submitter
- SMAD2 p.Asp158His Uncertain significance Single submitter
-
SMAD2 p.Asp242Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Asp450Asn Uncertain significance Single submitter
-
SMAD2 p.Asp97Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Cys149Trp Uncertain significance Single submitter
- SMAD2 p.Cys412Arg Uncertain significance Single submitter
- SMAD2 p.Cys81Ser Uncertain significance Single submitter
- SMAD2 p.Gln107Arg Uncertain significance Single submitter
-
SMAD2 p.Gln168His
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Gln239Glu Uncertain significance Single submitter
- SMAD2 p.Gln407Pro Uncertain significance Single submitter
- SMAD2 p.Gln429Glu Uncertain significance Single submitter
- SMAD2 p.Gln95Glu Uncertain significance Single submitter
- SMAD2 p.Glu189Gly Uncertain significance Single submitter
- SMAD2 p.Glu389Gly Uncertain significance Single submitter
- SMAD2 p.Glu38Lys Uncertain significance Single submitter
- SMAD2 p.Glu42Asp Uncertain significance Single submitter
- SMAD2 p.Gly113Ser Uncertain significance Single submitter
-
SMAD2 p.Gly122Arg
Uncertain significance
Single submitter
SMAD2- related Loeys-Dietz syndrome
- SMAD2 p.Gly209Ala Uncertain significance Single submitter
-
SMAD2 p.Gly24Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Gly314Asp Uncertain significance Single submitter
-
SMAD2 p.Gly333Glu
Uncertain significance
Single submitter
Loeys-Dietz syndrome 6
-
SMAD2 p.Gly333Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Gly343Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Gly401Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Gly421Glu Uncertain significance Single submitter
-
SMAD2 p.His119Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.His141Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.His166Arg Uncertain significance Single submitter
-
SMAD2 p.His259Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.His331Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.His331Leu Uncertain significance Single submitter
- SMAD2 p.His441Pro Uncertain significance Single submitter
-
SMAD2 p.Ile127Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Ile146Met Uncertain significance Single submitter
- SMAD2 p.Ile186Phe Uncertain significance Single submitter
-
SMAD2 p.Ile186Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Ile355Val Uncertain significance Single submitter
- SMAD2 p.Ile384Phe Uncertain significance Single submitter
- SMAD2 p.Ile4Met Uncertain significance Single submitter
- SMAD2 p.Ile65Met Uncertain significance Single submitter
-
SMAD2 p.Ile93Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Leu143Ile Uncertain significance Single submitter
- SMAD2 p.Leu394Pro Uncertain significance Single submitter
-
SMAD2 p.Leu449Ser
Uncertain significance
Single submitter
Loeys-Dietz syndrome 6
- SMAD2 p.Lys19Glu Uncertain significance Single submitter
- SMAD2 p.Lys375Gln Uncertain significance Single submitter
- SMAD2 p.Pro135Ser Uncertain significance Single submitter
- SMAD2 p.Pro176Arg Uncertain significance Single submitter
-
SMAD2 p.Pro177Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Pro212Ala Uncertain significance Single submitter
- SMAD2 p.Pro212Arg Uncertain significance Single submitter
- SMAD2 p.Pro246Leu Uncertain significance Single submitter
-
SMAD2 p.Pro265Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Pro271Leu Uncertain significance Single submitter
- SMAD2 p.Pro305Thr Uncertain significance Single submitter
- SMAD2 p.Pro459Leu Uncertain significance Single submitter
- SMAD2 p.Pro90Ser Uncertain significance Single submitter
-
SMAD2 p.Pro9Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Ser110Phe Uncertain significance Single submitter
-
SMAD2 p.Ser118Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Ser250Thr Uncertain significance Single submitter
- SMAD2 p.Ser276Leu Uncertain significance Single submitter
-
SMAD2 p.Ser276Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Ser306Pro Uncertain significance Single submitter
- SMAD2 p.Ser308Leu Uncertain significance Single submitter
- SMAD2 p.Ser433Arg Uncertain significance Single submitter
- SMAD2 p.Ser433Gly Uncertain significance Single submitter
- SMAD2 p.Thr108Ser Uncertain significance Single submitter
-
SMAD2 p.Thr172Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Thr197Asn Uncertain significance Single submitter
-
SMAD2 p.Thr252Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Thr303Ala Uncertain significance Single submitter
- SMAD2 p.Thr303Ile Uncertain significance Single submitter
-
SMAD2 p.Thr324Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Thr328Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Thr432Ala Uncertain significance Single submitter
- SMAD2 p.Thr432Ile Uncertain significance Single submitter
- SMAD2 p.Thr432Pro Uncertain significance Single submitter
- SMAD2 p.Thr76Asn Uncertain significance Single submitter
-
SMAD2 p.Thr92Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Thr99Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Trp368Cys Uncertain significance Single submitter
- SMAD2 p.Trp448Cys Uncertain significance Single submitter
- SMAD2 p.Tyr167Cys Uncertain significance Single submitter
- SMAD2 p.Tyr167His Uncertain significance Single submitter
- SMAD2 p.Tyr279His Uncertain significance Single submitter
- SMAD2 p.Tyr280Cys Uncertain significance Single submitter
- SMAD2 p.Tyr340Phe Uncertain significance Single submitter
-
SMAD2 p.Tyr340Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Val170Phe Uncertain significance Single submitter
- SMAD2 p.Val257Ile Uncertain significance Single submitter
- SMAD2 p.Val319Gly Uncertain significance Single submitter
- SMAD2 p.Val405Ile Uncertain significance Single submitter
- SMAD2 p.Val419Ala Uncertain significance Single submitter
- SMAD2 p.Val49Met Uncertain significance Single submitter
-
SMAD2 p.His140Tyr
Uncertain significance
No assertion criteria
SMAD2-related disorder
-
SMAD2 p.Pro435Arg
Uncertain significance
No assertion criteria
SMAD2-related disorder
-
SMAD2 p.Ser306Leu
Uncertain significance
No assertion criteria
SMAD2-congenital heart disease and multiple congenital anomaly disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
-
SMAD2 p.Arg462Cys
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 6
- SMAD2 p.Glu150Lys Uncertain significance Multiple submitters
-
SMAD2 p.Leu87Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Pro207Ala Uncertain significance Multiple submitters
-
SMAD2 p.Thr324Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMAD2 p.Thr8Met Uncertain significance Multiple submitters
- SMAD2 p.Ala272Val Uncertain significance Single submitter
-
SMAD2 p.Ala278Val
Uncertain significance
Single submitter
Loeys-Dietz syndrome 6
- SMAD2 p.Asp97Val Uncertain significance Single submitter
- SMAD2 p.Gln407Arg Uncertain significance Single submitter
- SMAD2 p.Gly209Arg Uncertain significance Single submitter
- SMAD2 p.Gly401Asp Uncertain significance Single submitter
- SMAD2 p.Gly86Glu Uncertain significance Single submitter
- SMAD2 p.Ile146Thr Uncertain significance Single submitter
- SMAD2 p.Ile332Val Uncertain significance Single submitter
- SMAD2 p.Ile384Val Uncertain significance Single submitter
- SMAD2 p.Leu87Pro Uncertain significance Single submitter
- SMAD2 p.Lys53Arg Uncertain significance Single submitter
-
SMAD2 p.Met327Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Pro78Gln Uncertain significance Single submitter
- SMAD2 p.Ser245Cys Uncertain significance Single submitter
- SMAD2 p.Ser25Cys Uncertain significance Single submitter
- SMAD2 p.Ser25Phe Uncertain significance Single submitter
- SMAD2 p.Ser2Leu Uncertain significance Single submitter
-
SMAD2 p.Ser458Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD2 p.Ser465Thr
Pathogenic
Single submitter
Loeys-Dietz syndrome 6
- SMAD2 p.Ser82Pro Uncertain significance Single submitter
- SMAD2 p.Thr430Met Uncertain significance Single submitter
-
SMAD2 p.Trp85Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD2 p.Tyr196Cys Uncertain significance Single submitter
All SMAD2 variants
Pathogenic 23
- p.Ala64fs Multiple submitters
- p.Arg182Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- c.997+1G>T Single submitter SMAD2-related cardiac disorders
- p.Ala323fs Single submitter Loeys-Dietz syndrome
- p.Arg182fs Single submitter congenital heart defects, multiple types, 8, with or without heterotaxy
- p.Arg329Gly Single submitter
- p.Asn258fs Single submitter Inborn genetic diseases
- p.Cys312Ser Single submitter Inborn genetic diseases
- p.Gln294Ter Single submitter Loeys-Dietz syndrome 6
- p.Gln396Ter Single submitter
- p.Glu159Ter Single submitter congenital heart defects, multiple types, 8, with or without heterotaxy
- p.Gly457Arg Single submitter Loeys-Dietz syndrome 6
- p.Leu131Ter Single submitter
- p.Leu297_Thr298insTer Single submitter
- p.Leu442Arg Single submitter
- p.Leu58Ter Single submitter
- p.Ser250fs Single submitter Loeys-Dietz syndrome 6
- p.Ser465Thr Single submitter Loeys-Dietz syndrome 6 ⚠
- p.Thr184fs Single submitter
- p.Val49fs Single submitter
- c.237-12A>G No assertion criteria congenital heart defects, multiple types, 8, with or without heterotaxy
- c.784+1G>A No assertion criteria congenital heart defects, multiple types, 8, with or without heterotaxy
- p.Trp274Cys No assertion criteria congenital heart defects, multiple types, 8, with or without heterotaxy
Pathogenic/Likely pathogenic 5
- p.Arg120Ter Multiple submitters
- p.Arg321Ter Multiple submitters Loeys-Dietz syndrome
- p.Gln264Ter Multiple submitters SMAD2-related disorder
- p.Tyr406Cys Multiple submitters Loeys-Dietz syndrome 6
- p.Asn205Ter No assertion criteria Loeys-Dietz syndrome 6
Likely pathogenic 12
- c.237-2A>G Multiple submitters Loeys-Dietz syndrome
- c.1136-1G>A Single submitter Inborn genetic diseases
- c.520+1G>A Single submitter Cardiovascular phenotype
- c.655+1G>C Single submitter
- p.Arg169fs Single submitter Loeys-Dietz syndrome 1
- p.Cys349Arg Single submitter
- p.Gly314Ala Single submitter Loeys-Dietz syndrome 6
- p.Ser353Arg Single submitter Loeys-Dietz syndrome 6
- p.Thr303Arg Single submitter Loeys-Dietz syndrome 6
- p.Thr413_Ile414insTer Single submitter Loeys-Dietz syndrome 6
- p.Trp132Arg Single submitter
- p.Trp18Ter Single submitter
Conflicting classifications of pathogenicity 2
Benign 25
- c.1280+16T>C Multiple submitters
- c.1280+202G>A Multiple submitters
- c.1280+25A>G Multiple submitters
- c.521-91A>G Multiple submitters
- c.655+93T>A Multiple submitters
- c.730+3dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- c.998-18A>G Multiple submitters
- c.1136-9del Single submitter
- c.1281-136G>A Single submitter
- c.1281-14A>G Single submitter
- c.1281-266C>T Single submitter
- c.1281-318C>T Single submitter
- c.1281-7del Single submitter
- c.236+7486G>T Single submitter
- c.327-39del Single submitter
- c.327-40_327-39del Single submitter
- c.327-56dup Single submitter
- c.520+159T>A Single submitter
- c.521-283C>G Single submitter
- c.656-13dup Single submitter
- c.656-235A>G Single submitter
- c.730+10del Single submitter
- c.731-184C>G Single submitter
- c.785-10dup Single submitter
- c.-53-147A>G Single submitter
Benign/Likely benign 16
- c.1280+12A>G Multiple submitters
- c.236+10G>T Multiple submitters
- c.520+5G>A Multiple submitters
- c.521-16del Multiple submitters
- c.730+11T>A Multiple submitters
- c.785-17A>C Multiple submitters
- c.785-18dup Multiple submitters
- c.997+11T>C Multiple submitters
- c.997+18T>G Multiple submitters
- p.Ala392= Multiple submitters Inborn genetic diseases
- p.Arg182= Multiple submitters Inborn genetic diseases
- p.Gly333= Multiple submitters Inborn genetic diseases
- p.Leu263= Multiple submitters Inborn genetic diseases
- p.Pro9= Multiple submitters Inborn genetic diseases
- p.Thr324= Multiple submitters Inborn genetic diseases
- p.Tyr216= Multiple submitters Inborn genetic diseases
Likely benign 194
- c.327-8C>G Multiple submitters
- c.655+14C>T Multiple submitters
- c.730+74A>G Multiple submitters
- c.784+7T>A Multiple submitters
- c.785-94G>A Multiple submitters
- c.785-9C>A Multiple submitters
- c.997+13T>C Multiple submitters
- c.997+88T>G Multiple submitters
- p.Arg133= Multiple submitters
- p.Arg169= Multiple submitters Inborn genetic diseases
- p.Arg415= Multiple submitters Inborn genetic diseases
- p.Asn163= Multiple submitters
- p.Asp59= Multiple submitters Inborn genetic diseases
- p.Cys149= Multiple submitters
- p.Cys412= Multiple submitters Inborn genetic diseases
- p.Cys436= Multiple submitters Inborn genetic diseases
- p.Gln235= Multiple submitters Inborn genetic diseases
- p.Gln294= Multiple submitters Inborn genetic diseases
- p.Glu344= Multiple submitters Inborn genetic diseases
- p.Glu348= Multiple submitters
- p.Gly244= Multiple submitters Inborn genetic diseases
- p.Gly29= Multiple submitters Inborn genetic diseases
- p.Gly301= Multiple submitters Inborn genetic diseases
- p.Gly56= Multiple submitters Inborn genetic diseases
- p.His138= Multiple submitters Inborn genetic diseases
- p.His183= Multiple submitters Inborn genetic diseases
- p.His198= Multiple submitters Inborn genetic diseases
- p.Leu131= Multiple submitters Inborn genetic diseases
- p.Leu249= Multiple submitters Inborn genetic diseases
- p.Leu52= Multiple submitters Inborn genetic diseases
- p.Lys54= Multiple submitters Inborn genetic diseases
- p.Pro124= Multiple submitters Inborn genetic diseases
- p.Pro164= Multiple submitters Inborn genetic diseases
- p.Pro177= Multiple submitters Inborn genetic diseases
- p.Pro201= Multiple submitters Inborn genetic diseases
- p.Pro295= Multiple submitters Inborn genetic diseases
- p.Pro370= Multiple submitters Inborn genetic diseases
- p.Pro377= Multiple submitters Inborn genetic diseases
- p.Pro459= Multiple submitters Inborn genetic diseases
- p.Ser255= Multiple submitters
- p.Ser353= Multiple submitters Inborn genetic diseases
- p.Ser458= Multiple submitters Inborn genetic diseases
- p.Thr172= Multiple submitters Inborn genetic diseases
- p.Thr184= Multiple submitters Inborn genetic diseases
- p.Thr197= Multiple submitters Inborn genetic diseases
- p.Thr220= Multiple submitters
- p.Thr289= Multiple submitters Inborn genetic diseases
- p.Thr430= Multiple submitters Inborn genetic diseases
- p.Thr67= Multiple submitters Inborn genetic diseases
- p.Thr8= Multiple submitters Inborn genetic diseases
- p.Tyr366= Multiple submitters Inborn genetic diseases
- p.Val461= Multiple submitters Inborn genetic diseases
- c.1135+12A>G Single submitter
- c.1135+14A>G Single submitter
- c.1135+20C>T Single submitter
- c.1136-10T>C Single submitter
- c.1136-13T>A Single submitter
- c.1136-15del Single submitter
- c.1136-17A>C Single submitter
- c.1136-19T>G Single submitter
- c.1136-4A>G Single submitter
- c.1136-5C>T Single submitter
- c.1136-9T>A Single submitter
- c.1280+15T>C Single submitter
- c.1280+19G>A Single submitter
- c.1280+9T>C Single submitter
- c.1281-10T>G Single submitter
- c.1281-16G>A Single submitter
- c.1281-248A>T Single submitter
- c.1281-317G>A Single submitter
- c.236+19del Single submitter
- c.236+20A>G Single submitter
- c.237-6G>A Single submitter
- c.237-8A>G Single submitter
- c.326+215T>G Single submitter
- c.327-11C>G Single submitter
- c.327-11C>T Single submitter
- c.327-15C>T Single submitter
- c.327-20T>C Single submitter
- c.327-5A>G Single submitter
- c.327-69C>T Single submitter
- c.520+15A>G Single submitter
- c.520+16G>A Single submitter
- c.520+17T>C Single submitter
- c.521-12G>A Single submitter
- c.521-12G>C Single submitter
- c.521-14T>G Single submitter
- c.521-15_521-13dup Single submitter
- c.521-19A>T Single submitter
- c.521-4T>G Single submitter
- c.655+10C>T Single submitter
- c.655+12T>C Single submitter
- c.656-17G>A Single submitter
- c.656-9C>T Single submitter
- c.730+107A>G Single submitter
- c.730+10A>G Single submitter
- c.730+16T>G Single submitter
- c.730+184T>A Single submitter
- c.730+70A>G Single submitter
- c.784+10A>C Single submitter
- c.784+12A>G Single submitter
- c.784+14A>G Single submitter
- c.784+15T>A Single submitter
- c.784+15T>C Single submitter
- c.784+15T>G Single submitter
- c.784+16G>A Single submitter
- c.784+19C>T Single submitter
- c.784+8G>A Single submitter
- c.785-11T>C Single submitter
- c.785-18T>A Single submitter
- c.785-277A>G Single submitter
- c.785-87T>A Single submitter
- c.785-8T>C Single submitter
- c.785-8T>G Single submitter
- c.997+19G>A Single submitter
- c.998-14G>T Single submitter
- c.998-19C>G Single submitter
- c.998-9T>C Single submitter
- c.-6A>G Single submitter
- c.*93A>G Single submitter
- p.Ala208= Single submitter Inborn genetic diseases
- p.Ala272= Single submitter
- p.Ala278= Single submitter
- p.Ala292= Single submitter Inborn genetic diseases
- p.Ala404= Single submitter Inborn genetic diseases
- p.Arg130= Single submitter Inborn genetic diseases
- p.Arg310= Single submitter Inborn genetic diseases
- p.Arg330= Single submitter
- p.Arg334= Single submitter
- p.Arg427= Single submitter
- p.Arg57= Single submitter
- p.Asn203= Single submitter
- p.Asn215= Single submitter Inborn genetic diseases
- p.Asn320= Single submitter Inborn genetic diseases
- p.Asn443= Single submitter Inborn genetic diseases
- p.Asn91= Single submitter Inborn genetic diseases
- p.Asp195= Single submitter
- p.Asp304= Single submitter
- p.Asp97= Single submitter Inborn genetic diseases
- p.Cys70= Single submitter
- p.Gln396= Single submitter
- p.Gln429= Single submitter
- p.Gln447= Single submitter Inborn genetic diseases
- p.Glu219= Single submitter
- p.Glu248= Single submitter Inborn genetic diseases
- p.Glu403= Single submitter Inborn genetic diseases
- p.Gly287= Single submitter Inborn genetic diseases
- p.Gly379= Single submitter Inborn genetic diseases
- p.His140= Single submitter
- p.His291= Single submitter
- p.Ile186= Single submitter Inborn genetic diseases
- p.Ile65= Single submitter Inborn genetic diseases
- p.Leu111= Single submitter Inborn genetic diseases
- p.Leu115= Single submitter Inborn genetic diseases
- p.Leu123= Single submitter Inborn genetic diseases
- p.Leu15= Single submitter
- p.Leu316= Single submitter Inborn genetic diseases
- p.Leu350= Single submitter
- p.Leu382= Single submitter
- p.Leu393= Single submitter
- p.Leu440= Single submitter
- p.Leu446= Single submitter
- p.Lys121= Single submitter
- p.Lys144= Single submitter Inborn genetic diseases
- p.Lys43= Single submitter
- p.Lys50= Single submitter
- p.Lys51= Single submitter
- p.Lys73= Single submitter
- p.Pro191= Single submitter
- p.Pro212= Single submitter Inborn genetic diseases
- p.Pro251= Single submitter
- p.Ser2= Single submitter
- p.Ser21= Single submitter
- p.Ser245= Single submitter Inborn genetic diseases
- p.Ser269= Single submitter
- p.Ser276= Single submitter
- p.Ser306= Single submitter
- p.Ser397= Single submitter Inborn genetic diseases
- p.Ser433= Single submitter Inborn genetic diseases
- p.Thr253= Single submitter Inborn genetic diseases
- p.Thr372= Single submitter
- p.Thr72= Single submitter Inborn genetic diseases
- p.Thr92= Single submitter
- p.Tyr128= Single submitter
- p.Tyr167= Single submitter Inborn genetic diseases
- p.Tyr280= Single submitter
- p.Tyr339= Single submitter
- p.Val117= Single submitter Inborn genetic diseases
- p.Val126= Single submitter Inborn genetic diseases
- p.Val160= Single submitter
- p.Val170= Single submitter
- p.Val180= Single submitter
- p.Val405= Single submitter Inborn genetic diseases
- p.Val452= Single submitter Inborn genetic diseases
Uncertain significance 206
- c.520+4G>A Multiple submitters
- c.997+5G>A Multiple submitters
- p.Ala392Thr Multiple submitters ⚠
- p.Ala395Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg114His Multiple submitters ⚠
- p.Arg130Gln Multiple submitters ⚠
- p.Arg310Ser Multiple submitters ⚠
- p.Arg337Cys Multiple submitters ⚠
- p.Arg427Ter Multiple submitters
- p.Arg462Cys Multiple submitters Loeys-Dietz syndrome 6 ⚠
- p.Asn307Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn318Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn361Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn91Asp Multiple submitters Inborn genetic diseases ⚠
- p.Cys81Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gln236His Multiple submitters Inborn genetic diseases ⚠
- p.Gln388Arg Multiple submitters Loeys-Dietz syndrome 6 ⚠
- p.Glu150Lys Multiple submitters ⚠
- p.Ile127Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile186Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile217Val Multiple submitters ⚠
- p.Ile332Thr Multiple submitters ⚠
- p.Leu338Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu440Phe Multiple submitters ⚠
- p.Leu87Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro191Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro207Ala Multiple submitters ⚠
- p.Pro435Ser Multiple submitters ⚠
- p.Pro9Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser460Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser88Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr243Ala Multiple submitters ⚠
- p.Thr253Ala Multiple submitters ⚠
- p.Thr324Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr8Met Multiple submitters ⚠
- p.Thr92Met Multiple submitters Inborn genetic diseases ⚠
- c.1135+3A>T Single submitter
- c.1135+6G>C Single submitter
- c.1281-11C>A Single submitter
- c.236+3A>G Single submitter
- c.236+4A>G Single submitter
- c.327-3C>A Single submitter
- c.327-4A>G Single submitter
- c.520+3A>G Single submitter
- c.655+3A>G Single submitter
- c.730+5A>G Single submitter
- c.784+6T>G Single submitter
- c.785-3C>T Single submitter
- c.*31769C>T Single submitter
- p.Ala272Val Single submitter ⚠
- p.Ala278Val Single submitter Loeys-Dietz syndrome 6 ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala323Val Single submitter Inborn genetic diseases ⚠
- p.Ala392Ser Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg133His Single submitter SMAD2-related disorder ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg462His Single submitter ⚠
- p.Arg57Gln Single submitter Inborn genetic diseases ⚠
- p.Asn163Lys Single submitter ⚠
- p.Asn238His Single submitter Inborn genetic diseases ⚠
- p.Asn258Ser Single submitter Inborn genetic diseases ⚠
- p.Asn361Thr Single submitter Loeys-Dietz syndrome 6 ⚠
- p.Asn363Ser Single submitter ⚠
- p.Asn387Lys Single submitter ⚠
- p.Asn71Thr Single submitter ⚠
- p.Asn91Ser Single submitter ⚠
- p.Asp112Glu Single submitter ⚠
- p.Asp158His Single submitter ⚠
- p.Asp194Gly Single submitter
- p.Asp242Glu Single submitter Inborn genetic diseases ⚠
- p.Asp450Asn Single submitter ⚠
- p.Asp97Glu Single submitter Inborn genetic diseases ⚠
- p.Asp97His Single submitter Inborn genetic diseases
- p.Asp97Val Single submitter ⚠
- p.Cys149Trp Single submitter ⚠
- p.Cys412Arg Single submitter ⚠
- p.Cys463fs Single submitter
- p.Cys81Ser Single submitter ⚠
- p.Gln107Arg Single submitter ⚠
- p.Gln168His Single submitter Inborn genetic diseases ⚠
- p.Gln239Glu Single submitter ⚠
- p.Gln407Arg Single submitter ⚠
- p.Gln407Pro Single submitter ⚠
- p.Gln429Glu Single submitter ⚠
- p.Gln95Glu Single submitter ⚠
- p.Glu189Gly Single submitter ⚠
- p.Glu228Asp Single submitter
- p.Glu389Gly Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Glu42Asp Single submitter ⚠
- p.Gly113Ser Single submitter ⚠
- p.Gly122Arg Single submitter SMAD2- related Loeys-Dietz syndrome ⚠
- p.Gly209Ala Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly24Arg Single submitter Inborn genetic diseases ⚠
- p.Gly24Trp Single submitter
- p.Gly314Asp Single submitter ⚠
- p.Gly333Glu Single submitter Loeys-Dietz syndrome 6 ⚠
- p.Gly333Val Single submitter Inborn genetic diseases ⚠
- p.Gly343Arg Single submitter Inborn genetic diseases ⚠
- p.Gly401Arg Single submitter Inborn genetic diseases ⚠
- p.Gly401Asp Single submitter ⚠
- p.Gly421Glu Single submitter ⚠
- p.Gly86Glu Single submitter ⚠
- p.His119Arg Single submitter Inborn genetic diseases ⚠
- p.His141Arg Single submitter Inborn genetic diseases ⚠
- p.His141del Single submitter
- p.His166Arg Single submitter ⚠
- p.His259Arg Single submitter Inborn genetic diseases ⚠
- p.His331Arg Single submitter Inborn genetic diseases ⚠
- p.His331Leu Single submitter ⚠
- p.His441Pro Single submitter ⚠
- p.Ile127Thr Single submitter Inborn genetic diseases ⚠
- p.Ile146Met Single submitter ⚠
- p.Ile146Thr Single submitter ⚠
- p.Ile186Phe Single submitter ⚠
- p.Ile186Val Single submitter Inborn genetic diseases ⚠
- p.Ile217_Pro218insIle Single submitter
- p.Ile217Asn Single submitter
- p.Ile332Val Single submitter ⚠
- p.Ile355Val Single submitter ⚠
- p.Ile384Phe Single submitter ⚠
- p.Ile384Val Single submitter ⚠
- p.Ile4Met Single submitter ⚠
- p.Ile65Met Single submitter ⚠
- p.Ile93Lys Single submitter Inborn genetic diseases ⚠
- p.Leu143Ile Single submitter ⚠
- p.Leu350_Ser351delinsArg Single submitter
- p.Leu394Pro Single submitter ⚠
- p.Leu449Ser Single submitter Loeys-Dietz syndrome 6 ⚠
- p.Leu87Pro Single submitter ⚠
- p.Lys19Glu Single submitter ⚠
- p.Lys375Gln Single submitter ⚠
- p.Lys53Arg Single submitter ⚠
- p.Met327Thr Single submitter Inborn genetic diseases ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro176Arg Single submitter ⚠
- p.Pro177Gln Single submitter Inborn genetic diseases ⚠
- p.Pro201_Glu202insAspPro Single submitter
- p.Pro212Ala Single submitter ⚠
- p.Pro212Arg Single submitter ⚠
- p.Pro246Leu Single submitter ⚠
- p.Pro265Ser Single submitter Inborn genetic diseases ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro305fs Single submitter
- p.Pro305Thr Single submitter ⚠
- p.Pro459fs Single submitter
- p.Pro459Leu Single submitter ⚠
- p.Pro78Gln Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Pro9Gln Single submitter Inborn genetic diseases ⚠
- p.Ser110Phe Single submitter ⚠
- p.Ser118Phe Single submitter Inborn genetic diseases ⚠
- p.Ser245Cys Single submitter ⚠
- p.Ser250del Single submitter Loeys-Dietz syndrome 6
- p.Ser250Thr Single submitter ⚠
- p.Ser25Cys Single submitter ⚠
- p.Ser25Phe Single submitter ⚠
- p.Ser276Leu Single submitter ⚠
- p.Ser276Trp Single submitter Inborn genetic diseases ⚠
- p.Ser2Leu Single submitter ⚠
- p.Ser306Pro Single submitter ⚠
- p.Ser308Leu Single submitter ⚠
- p.Ser433Arg Single submitter ⚠
- p.Ser433Gly Single submitter ⚠
- p.Ser458Thr Single submitter Inborn genetic diseases ⚠
- p.Ser460= Single submitter
- p.Ser82Pro Single submitter ⚠
- p.Thr108Ser Single submitter ⚠
- p.Thr172Ala Single submitter Inborn genetic diseases ⚠
- p.Thr197Asn Single submitter ⚠
- p.Thr252Ile Single submitter Inborn genetic diseases ⚠
- p.Thr303Ala Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Thr324Ala Single submitter Inborn genetic diseases ⚠
- p.Thr328Ile Single submitter Inborn genetic diseases ⚠
- p.Thr430Met Single submitter ⚠
- p.Thr432Ala Single submitter ⚠
- p.Thr432Ile Single submitter ⚠
- p.Thr432Pro Single submitter ⚠
- p.Thr454fs Single submitter
- p.Thr76Asn Single submitter ⚠
- p.Thr92Arg Single submitter Inborn genetic diseases ⚠
- p.Thr99Ser Single submitter Inborn genetic diseases ⚠
- p.Trp368Cys Single submitter ⚠
- p.Trp448Cys Single submitter ⚠
- p.Trp85Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr151Ter Single submitter
- p.Tyr167Cys Single submitter ⚠
- p.Tyr167His Single submitter ⚠
- p.Tyr196_His198del Single submitter
- p.Tyr196Cys Single submitter ⚠
- p.Tyr279His Single submitter ⚠
- p.Tyr280Cys Single submitter ⚠
- p.Tyr340Phe Single submitter ⚠
- p.Tyr340Ser Single submitter Inborn genetic diseases ⚠
- p.Val170Phe Single submitter ⚠
- p.Val257Ile Single submitter ⚠
- p.Val319Gly Single submitter ⚠
- p.Val405Ile Single submitter ⚠
- p.Val419Ala Single submitter ⚠
- p.Val49Met Single submitter ⚠
- p.His140Tyr No assertion criteria SMAD2-related disorder ⚠
- p.Pro435Arg No assertion criteria SMAD2-related disorder ⚠
- p.Ser306Leu No assertion criteria SMAD2-congenital heart disease and multiple congenital anomaly disorder ⚠