SMAD9 — 285 ClinVar variants
All ClinVar germline SMAD9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
13 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 11 Conflicting · 20 Benign · 6 Benign/Likely benign · 99 Likely benign · 123 Uncertain significance
Full SMAD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SMAD9 p.Arg263Gln
Conflicting
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg73Cys
Conflicting
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Asn307Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMAD9 p.Asn386Asp
Conflicting
Single submitter
Pulmonary arterial hypertension associated with congenital heart disease
-
SMAD9 p.His208Asp
Conflicting
Single submitter
Inborn genetic diseases
-
SMAD9 p.Leu22Pro
Conflicting
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Tyr150Cys
Conflicting
Single submitter
pulmonary hypertension, primary, 2
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SMAD9 p.Ala277Val
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Ala424Thr
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Ala58Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg161His
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg415Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.Arg428His
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg73His
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Asn387Lys
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Cys349Gly
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.His441Tyr
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Ile298Val
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Ile332Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.Pro185Leu
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro227Thr
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro62Leu
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser317Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.Thr324Met
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Thr328Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.Val285Ala
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Val405Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.Ala188Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Ala196Thr
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ala391Thr
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg284Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg294Gln
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg308Gly
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg308Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Arg428Cys
Uncertain significance
Single submitter
SMAD9-related disorder
-
SMAD9 p.Arg84Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Arg84Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Arg94Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Arg94Pro
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Asn259His
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Asn307Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Asn361His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Asn363Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Asn363Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Asn461Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Asp179Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Asp76Glu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Gln121Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Gln153Pro
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Gln240Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Gln358Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Glu123Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Glu403Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Gly242Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Gly286Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Gly333Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
- SMAD9 p.Gly342Arg Uncertain significance Single submitter
-
SMAD9 p.Gly401Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Gly401Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Gly423Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD9 p.Gly457Asp Uncertain significance Single submitter
-
SMAD9 p.Gly77Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.His105Gln
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.His2Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.His366Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Ile376Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Leu316Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Lys334Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Lys420Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Lys48Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Met52Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro140Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro264Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Pro459Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro6Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro72Thr
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro99Leu
Uncertain significance
Single submitter
SMAD9-related disorder
-
SMAD9 p.Ser103Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser167Gly
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser192Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Ser212Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser256Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser275Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser295Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser317Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Ser381Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Thr203Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Thr434Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Thr70Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Tyr131Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Tyr278Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Tyr278His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMAD9 p.Tyr339Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Val336Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Val373Ile
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Val384Ile
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Val398Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SMAD9 p.Val90Met Uncertain significance No assertion criteria
Predictors split 17
The independent predictors disagree with each other — read with care.
-
SMAD9 p.Glu268Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.His337Gln
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Pro201Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMAD9 p.Ser15Gly
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Thr288Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Val69Ile
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Val95Leu
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 2
-
SMAD9 p.Asn322Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Glu348Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Lys334Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Phe181Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser148Gly
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Ser200Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Thr328Ala
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
-
SMAD9 p.Tyr220Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 2
- SMAD9 p.Tyr364Cys Uncertain significance Single submitter
-
SMAD9 p.Val431Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All SMAD9 variants
Pathogenic 13
- p.Arg294Ter Multiple submitters pulmonary hypertension, primary, 2
- p.Tyr129Ter Multiple submitters pulmonary hypertension, primary, 2
- p.Ala233fs Single submitter pulmonary hypertension, primary, 2
- p.Arg284Ter Single submitter pulmonary hypertension, primary, 2
- p.Cys68fs Single submitter pulmonary hypertension, primary, 2
- p.Leu229fs Single submitter pulmonary hypertension, primary, 2
- p.Leu255_Ser256insTer Single submitter pulmonary hypertension, primary, 2
- p.Lys67fs Single submitter pulmonary hypertension, primary, 2
- p.Ser223Ter Single submitter pulmonary hypertension, primary, 2
- p.Trp24Ter Single submitter pulmonary hypertension, primary, 2
- p.Trp33Ter Single submitter pulmonary hypertension, primary, 2
- p.Trp96fs Single submitter pulmonary hypertension, primary, 2
- p.Cys202Ter No assertion criteria pulmonary hypertension, primary, 2
Pathogenic/Likely pathogenic 2
- p.Cys68Ter Multiple submitters Pulmonary arterial hypertension associated with congenital heart disease
- p.Gln271Ter Multiple submitters pulmonary hypertension, primary, 2
Likely pathogenic 11
- p.Pro190fs Multiple submitters pulmonary hypertension, primary, 2
- c.1004-2A>G Single submitter pulmonary hypertension, primary, 2
- c.671-1G>A Single submitter pulmonary hypertension, primary, 2
- p.Cys93fs Single submitter pulmonary hypertension, primary, 2
- p.Gln271fs Single submitter pulmonary hypertension, primary, 2
- p.Gln290Ter Single submitter pulmonary hypertension, primary, 2
- p.Gln365fs Single submitter
- p.Lys108delinsSerTer Single submitter pulmonary hypertension, primary, 2
- p.Lys47fs Single submitter pulmonary hypertension, primary, 2
- p.Tyr267Ter Single submitter pulmonary hypertension, primary, 2
- p.Tyr346fs Single submitter pulmonary hypertension, primary, 2
Conflicting classifications of pathogenicity 11
- c.781+2T>A Single submitter pulmonary hypertension, primary, 2
- p.Arg263Gln Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Arg73Cys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Asn307Ser Single submitter Inborn genetic diseases ⚠
- p.Asn386Asp Single submitter Pulmonary arterial hypertension associated with congenital heart disease ⚠
- p.Cys202= Single submitter pulmonary hypertension, primary, 2
- p.His208Asp Single submitter Inborn genetic diseases ⚠
- p.Ile332fs Single submitter pulmonary hypertension, primary, 2
- p.Leu22Pro Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Lys46fs Single submitter pulmonary hypertension, primary, 2
- p.Tyr150Cys Single submitter pulmonary hypertension, primary, 2 ⚠
Benign 20
- c.1261-76C>T Multiple submitters
- c.670+84C>A Multiple submitters
- c.782-166A>G Multiple submitters
- c.782-174G>A Multiple submitters
- c.782-69G>T Multiple submitters
- c.-186-36C>T Multiple submitters
- c.-37C>T Multiple submitters
- c.*200A>C Multiple submitters
- c.*298A>G Multiple submitters
- c.*47G>A Multiple submitters
- p.Pro116= Multiple submitters pulmonary hypertension, primary, 2
- p.Thr248Lys Multiple submitters pulmonary hypertension, primary, 2
- p.Thr4= Multiple submitters pulmonary hypertension, primary, 2
- c.412+116AG[5] Single submitter
- c.412+191AAAG[3] Single submitter
- c.670+275dup Single submitter
- c.782-251A>G Single submitter
- c.782-257A>G Single submitter
- p.Pro109= Single submitter pulmonary hypertension, primary, 2
- p.Tyr340= Single submitter pulmonary hypertension, primary, 2
Benign/Likely benign 6
- c.1004-8G>A Multiple submitters pulmonary hypertension, primary, 2
- c.1260+17A>C Multiple submitters pulmonary hypertension, primary, 2
- p.His252= Multiple submitters pulmonary hypertension, primary, 2
- p.Pro16= Multiple submitters pulmonary hypertension, primary, 2
- p.Val276= Multiple submitters pulmonary hypertension, primary, 2
- p.Val345= Multiple submitters pulmonary hypertension, primary, 2
Likely benign 99
- c.1004-6C>T Multiple submitters pulmonary hypertension, primary, 2
- c.781+18A>G Multiple submitters pulmonary hypertension, primary, 2
- p.Ala163Thr Multiple submitters pulmonary hypertension, primary, 2
- p.Arg146Lys Multiple submitters pulmonary hypertension, primary, 2
- p.Cys349= Multiple submitters pulmonary hypertension, primary, 2
- p.Pro62= Multiple submitters pulmonary hypertension, primary, 2
- p.Thr203= Multiple submitters pulmonary hypertension, primary, 2
- c.1004-15T>G Single submitter pulmonary hypertension, primary, 2
- c.1004-221G>A Single submitter
- c.1260+10G>A Single submitter pulmonary hypertension, primary, 2
- c.1260+139C>T Single submitter
- c.1261-19C>G Single submitter pulmonary hypertension, primary, 2
- c.1261-265G>C Single submitter
- c.1261-267G>A Single submitter
- c.412+15C>T Single submitter pulmonary hypertension, primary, 2
- c.412+16G>A Single submitter pulmonary hypertension, primary, 2
- c.412+18C>T Single submitter pulmonary hypertension, primary, 2
- c.412+7C>G Single submitter pulmonary hypertension, primary, 2
- c.412+7C>T Single submitter
- c.413-206A>G Single submitter
- c.413-6T>C Single submitter pulmonary hypertension, primary, 2
- c.413-7A>G Single submitter pulmonary hypertension, primary, 2
- c.670+14A>G Single submitter pulmonary hypertension, primary, 2
- c.670+33G>A Single submitter
- c.670+7A>G Single submitter pulmonary hypertension, primary, 2
- c.671-11C>T Single submitter pulmonary hypertension, primary, 2
- c.781+15A>T Single submitter
- c.781+17C>T Single submitter pulmonary hypertension, primary, 2
- c.781+9C>T Single submitter pulmonary hypertension, primary, 2
- c.782-17G>T Single submitter pulmonary hypertension, primary, 2
- c.-186-157T>C Single submitter
- p.Ala163= Single submitter pulmonary hypertension, primary, 2
- p.Ala196= Single submitter pulmonary hypertension, primary, 2
- p.Ala236= Single submitter pulmonary hypertension, primary, 2
- p.Ala37= Single submitter pulmonary hypertension, primary, 2
- p.Arg161= Single submitter pulmonary hypertension, primary, 2
- p.Arg284= Single submitter pulmonary hypertension, primary, 2
- p.Arg360= Single submitter pulmonary hypertension, primary, 2
- p.Arg94= Single submitter pulmonary hypertension, primary, 2
- p.Asn174= Single submitter pulmonary hypertension, primary, 2
- p.Asn322= Single submitter pulmonary hypertension, primary, 2
- p.Asp303= Single submitter
- p.Asp76= Single submitter pulmonary hypertension, primary, 2
- p.Cys112= Single submitter pulmonary hypertension, primary, 2
- p.Cys380= Single submitter pulmonary hypertension, primary, 2
- p.Cys61= Single submitter
- p.Gln221= Single submitter pulmonary hypertension, primary, 2
- p.His105= Single submitter pulmonary hypertension, primary, 2
- p.His195= Single submitter pulmonary hypertension, primary, 2
- p.His366= Single submitter pulmonary hypertension, primary, 2
- p.Leu110= Single submitter pulmonary hypertension, primary, 2
- p.Leu139= Single submitter pulmonary hypertension, primary, 2
- p.Leu143= Single submitter pulmonary hypertension, primary, 2
- p.Leu154= Single submitter pulmonary hypertension, primary, 2
- p.Leu189= Single submitter pulmonary hypertension, primary, 2
- p.Leu229= Single submitter pulmonary hypertension, primary, 2
- p.Leu382= Single submitter pulmonary hypertension, primary, 2
- p.Leu45= Single submitter pulmonary hypertension, primary, 2
- p.Leu55= Single submitter pulmonary hypertension, primary, 2
- p.Leu59= Single submitter pulmonary hypertension, primary, 2
- p.Leu79= Single submitter pulmonary hypertension, primary, 2
- p.Leu87= Single submitter
- p.Lys43Glu Single submitter pulmonary hypertension, primary, 2
- p.Lys67= Single submitter pulmonary hypertension, primary, 2
- p.Phe117= Single submitter pulmonary hypertension, primary, 2
- p.Phe390= Single submitter pulmonary hypertension, primary, 2
- p.Pro145Gln Single submitter pulmonary hypertension, primary, 2
- p.Pro152= Single submitter pulmonary hypertension, primary, 2
- p.Pro169= Single submitter pulmonary hypertension, primary, 2
- p.Pro185= Single submitter pulmonary hypertension, primary, 2
- p.Pro201= Single submitter pulmonary hypertension, primary, 2
- p.Pro213= Single submitter pulmonary hypertension, primary, 2
- p.Pro230= Single submitter pulmonary hypertension, primary, 2
- p.Pro264= Single submitter pulmonary hypertension, primary, 2
- p.Pro445= Single submitter pulmonary hypertension, primary, 2
- p.Pro99= Single submitter pulmonary hypertension, primary, 2
- p.Ser103= Single submitter pulmonary hypertension, primary, 2
- p.Ser162= Single submitter pulmonary hypertension, primary, 2
- p.Ser180= Single submitter pulmonary hypertension, primary, 2
- p.Ser214= Single submitter
- p.Ser256= Single submitter pulmonary hypertension, primary, 2
- p.Ser275= Single submitter pulmonary hypertension, primary, 2
- p.Ser293= Single submitter pulmonary hypertension, primary, 2
- p.Ser295= Single submitter pulmonary hypertension, primary, 2
- p.Ser317= Single submitter pulmonary hypertension, primary, 2
- p.Ser378= Single submitter pulmonary hypertension, primary, 2
- p.Ser397= Single submitter
- p.Thr288= Single submitter pulmonary hypertension, primary, 2
- p.Thr302= Single submitter pulmonary hypertension, primary, 2
- p.Thr324= Single submitter pulmonary hypertension, primary, 2
- p.Thr5= Single submitter pulmonary hypertension, primary, 2
- p.Tyr150= Single submitter pulmonary hypertension, primary, 2
- p.Val144Leu Single submitter pulmonary hypertension, primary, 2
- p.Val18= Single submitter pulmonary hypertension, primary, 2
- p.Val319= Single submitter pulmonary hypertension, primary, 2
- p.Val336= Single submitter pulmonary hypertension, primary, 2
- p.Val341= Single submitter pulmonary hypertension, primary, 2
- p.Val404= Single submitter pulmonary hypertension, primary, 2
- p.Val69= Single submitter pulmonary hypertension, primary, 2
Uncertain significance 123
- p.Ala277Val Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Ala424Thr Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Ala58Ser Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Arg161His Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Arg415Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg428His Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Arg73His Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Asn387Lys Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Asp303Asn Multiple submitters pulmonary hypertension, primary, 2
- p.Cys349Gly Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Glu268Lys Multiple submitters Inborn genetic diseases ⚠
- p.His337Gln Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.His441Tyr Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Ile298Val Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Ile332Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro185Leu Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Pro201Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro227Thr Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Pro62Leu Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Ser15Gly Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Ser317Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr288Ser Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Thr324Met Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Thr328Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val285Ala Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Val405Met Multiple submitters Inborn genetic diseases ⚠
- p.Val69Ile Multiple submitters pulmonary hypertension, primary, 2 ⚠
- p.Val95Leu Multiple submitters pulmonary hypertension, primary, 2 ⚠
- c.*2202del Single submitter
- c.*3542TA[9] Single submitter
- c.*3558_*3563del Single submitter
- c.*3562CA[6] Single submitter
- p.Ala188Val Single submitter Inborn genetic diseases ⚠
- p.Ala196Thr Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ala391Thr Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Arg284Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Arg294Gln Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Arg308Gly Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Arg308Lys Single submitter Inborn genetic diseases ⚠
- p.Arg415= Single submitter pulmonary hypertension, primary, 2
- p.Arg428Cys Single submitter SMAD9-related disorder ⚠
- p.Arg84Cys Single submitter Inborn genetic diseases ⚠
- p.Arg84Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Arg94Cys Single submitter Inborn genetic diseases ⚠
- p.Arg94Pro Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Asn259His Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Asn307Asp Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Asn318Ser Single submitter pulmonary hypertension, primary, 2
- p.Asn322Ser Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Asn361His Single submitter Inborn genetic diseases ⚠
- p.Asn363Lys Single submitter Inborn genetic diseases ⚠
- p.Asn363Ser Single submitter Inborn genetic diseases ⚠
- p.Asn461Lys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Asp179Glu Single submitter Inborn genetic diseases ⚠
- p.Asp76Glu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gln121Arg Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gln153Pro Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gln240Arg Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gln358Arg Single submitter Inborn genetic diseases ⚠
- p.Gln64Ter Single submitter
- p.Glu123Asp Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Glu31del Single submitter pulmonary hypertension, primary, 2
- p.Glu348Lys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Glu403Gln Single submitter Inborn genetic diseases ⚠
- p.Gly242Val Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gly286Ala Single submitter Inborn genetic diseases ⚠
- p.Gly333Arg Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gly342Arg Single submitter ⚠
- p.Gly401Cys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Gly401Ser Single submitter Inborn genetic diseases ⚠
- p.Gly423Asp Single submitter Inborn genetic diseases ⚠
- p.Gly457Asp Single submitter ⚠
- p.Gly77Arg Single submitter Inborn genetic diseases ⚠
- p.His105Gln Single submitter pulmonary hypertension, primary, 2 ⚠
- p.His2Asp Single submitter pulmonary hypertension, primary, 2 ⚠
- p.His366Gln Single submitter Inborn genetic diseases ⚠
- p.His400fs Single submitter pulmonary hypertension, primary, 2
- p.Ile376Met Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Leu156Arg Single submitter pulmonary hypertension, primary, 2
- p.Leu316Val Single submitter Inborn genetic diseases ⚠
- p.Lys334Arg Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Lys334Thr Single submitter Inborn genetic diseases ⚠
- p.Lys420Asn Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Lys48Asn Single submitter Inborn genetic diseases ⚠
- p.Lys49del Single submitter pulmonary hypertension, primary, 2
- p.Lys49dup Single submitter pulmonary hypertension, primary, 2
- p.Met1Thr Single submitter pulmonary hypertension, primary, 2
- p.Met52Val Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Phe181Ser Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Pro140Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Pro264Arg Single submitter Inborn genetic diseases ⚠
- p.Pro459Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Pro6Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Pro72Thr Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Pro99Leu Single submitter SMAD9-related disorder ⚠
- p.Ser103Cys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser148Gly Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser167Gly Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser192Leu Single submitter Inborn genetic diseases ⚠
- p.Ser200Cys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser212Asn Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser256Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser275Leu Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser295Arg Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Ser317Phe Single submitter Inborn genetic diseases ⚠
- p.Ser381Arg Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Thr203Met Single submitter Inborn genetic diseases ⚠
- p.Thr328Ala Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Thr434Ser Single submitter Inborn genetic diseases ⚠
- p.Thr70Met Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Trp448Ter Single submitter pulmonary hypertension, primary, 2
- p.Tyr131Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr220Cys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Tyr278Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr278His Single submitter Inborn genetic diseases ⚠
- p.Tyr339Cys Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Tyr364Cys Single submitter ⚠
- p.Val336Met Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Val373Ile Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Val384Ile Single submitter pulmonary hypertension, primary, 2 ⚠
- p.Val398Phe Single submitter Inborn genetic diseases ⚠
- p.Val431Ile Single submitter Inborn genetic diseases ⚠
- p.Val90Met No assertion criteria ⚠