PDLIM3 — 469 ClinVar variants

All ClinVar germline PDLIM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

15 Conflicting · 38 Benign · 14 Benign/Likely benign · 135 Likely benign · 267 Uncertain significance

Full PDLIM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 227

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.

PDLIM3 p.Arg241Gln Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg290Lys Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Asp262Asn Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Pro10Leu Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Pro228Leu Conflicting Single submitter
Cardiovascular phenotype
PDLIM3 p.Thr343Ala Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Thr57Ala Conflicting Single submitter
hypertrophic cardiomyopathy

Predictors lean, ClinVar uncertain 174

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 174

PDLIM3 p.Ala168Val Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala171Thr Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala304Gly Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala308Val Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala345Thr Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala347Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Ala38Val Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Arg147Cys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Arg147His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Arg16Met Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Arg235Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Arg248His Uncertain significance Multiple submitters
PDLIM3 p.Arg267Cys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Arg309Gln Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Arg313Gln Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Arg31Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Arg346Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Asn201Ser Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Asp199Glu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Asp232Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Asp265Gly Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Asp81Glu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Gln3Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Glu177Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Glu222Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Glu230Lys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Glu243Lys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Glu316Lys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Glu336Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Glu342Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Gly140Arg Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Gly14Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Gly162Asp Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Gly215Glu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Gly283Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Gly284Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Gly300Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Gly331Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.His74Gln Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ile141Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Leu219Phe Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Leu256Phe Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Leu327Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Leu43Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Met220Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Pro100Ser Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Pro218Thr Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Pro244His Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Pro268Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Pro277Leu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Pro90Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Ser107Pro Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ser226Leu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ser226Pro Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ser231Leu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ser250Leu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ser299Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
PDLIM3 p.Ser89Cys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ser93Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Thr271Met Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Thr279Met Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Thr357Met Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Trp88Arg Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Tyr361Cys Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Val260Met Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Val305Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Val306Ala Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala167Ser Uncertain significance Single submitter
PDLIM3 p.Ala167Val Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ala171Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Ala225Gly Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ala225Thr Uncertain significance Single submitter
PDLIM3 p.Ala345Pro Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ala347Thr Uncertain significance Single submitter
PDLIM3 p.Ala40Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Ala40Val Uncertain significance Single submitter
PDLIM3 p.Ala65Val Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg16Lys Uncertain significance Single submitter
PDLIM3 p.Arg241Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Arg241Trp Uncertain significance Single submitter
PDLIM3 p.Arg267His Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg272Gln Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg31Thr Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg348Cys Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg348Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Asn104Ser Uncertain significance Single submitter
PDLIM3 p.Asn242Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Asn326Lys Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Asn42His Uncertain significance Single submitter
PDLIM3 p.Asn42Ile Uncertain significance Single submitter
PDLIM3 p.Asp239Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Asp322Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Asp47Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Asp81Tyr Uncertain significance Single submitter
PDLIM3 p.Cys297Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Cys317Arg Uncertain significance Single submitter
PDLIM3 p.Cys320Tyr Uncertain significance Single submitter
PDLIM3 p.Cys44Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Gln110Glu Uncertain significance Single submitter
PDLIM3 p.Gln91Arg Uncertain significance Single submitter
PDLIM3 p.Glu106Ala Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Glu230Asp Uncertain significance Single submitter
PDLIM3 p.Glu230Gln Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gly19Glu Uncertain significance Single submitter
PDLIM3 p.Gly20Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Gly251Ser Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gly284Ser Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gly286Asp Uncertain significance Single submitter
PDLIM3 p.Gly286Ser Uncertain significance Single submitter
PDLIM3 p.Gly298Glu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gly303Val Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gly354Ser Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gly54Cys Uncertain significance Single submitter
PDLIM3 p.Gly9Ser Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.His282Arg Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.His86Arg Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ile141Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Ile141Val Uncertain significance Single submitter
PDLIM3 p.Ile159Val Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ile174Val Uncertain significance Single submitter
PDLIM3 p.Ile202Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Ile21Thr Uncertain significance Single submitter
PDLIM3 p.Ile21Val Uncertain significance Single submitter
PDLIM3 p.Ile52Val Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ile6Asn Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ile6Phe Uncertain significance Single submitter
PDLIM3 p.Leu7Phe Uncertain significance Single submitter
PDLIM3 p.Lys169Glu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Lys280Gln Uncertain significance Single submitter
PDLIM3 p.Lys328Arg Uncertain significance Single submitter
PDLIM3 p.Lys330Asn Uncertain significance Single submitter
PDLIM3 p.Lys330Thr Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Lys70Asn Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Lys79Arg Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Met203Thr Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Met220Arg Uncertain significance Single submitter
PDLIM3 p.Met236Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Met60Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Phe253Leu Uncertain significance Single submitter
PDLIM3 p.Phe318Val Uncertain significance Single submitter
PDLIM3 p.Pro12Ser Uncertain significance Single submitter
PDLIM3 p.Pro150Ser Uncertain significance Single submitter
PDLIM3 p.Pro218Ser Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Pro223Ala Uncertain significance Single submitter
PDLIM3 p.Pro223Thr Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Pro244Leu Uncertain significance Single submitter
PDLIM3 p.Pro268Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Pro2Thr Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Pro315His Uncertain significance Single submitter
PDLIM3 p.Pro315Ser Uncertain significance Single submitter
dilated cardiomyopathy

Predictors split 46

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

PDLIM3 p.Ala308Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Arg272Trp Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Asp310Asn Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ile159Asn Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Lys296Ile Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Met178Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PDLIM3 p.Pro292Arg Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Pro292Leu Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Tyr355His Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Val260Gly Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Val319Met Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Val5Ala Uncertain significance Multiple submitters
dilated cardiomyopathy
PDLIM3 p.Ala188Asp Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ala276Val Uncertain significance Single submitter
PDLIM3 p.Arg235Gly Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg235Trp Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Arg313Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Arg68Gly Uncertain significance Single submitter
PDLIM3 p.Asn191Lys Uncertain significance Single submitter
PDLIM3 p.Asp239Asn Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Cys77Trp Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Gln189Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Gly19Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
PDLIM3 p.Gly46Arg Uncertain significance Single submitter
PDLIM3 p.Gly54Asp Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ile185Thr Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ile80Met Uncertain significance Single submitter
PDLIM3 p.Leu76Met Uncertain significance Single submitter
PDLIM3 p.Lys184Asn Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Met178Ile Uncertain significance Single submitter
PDLIM3 p.Met194Thr Uncertain significance Single submitter
PDLIM3 p.Phe190Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Phe23Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Phe318Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ser145Asn Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Ser252Ala Uncertain significance Single submitter
PDLIM3 p.Thr205Ile Uncertain significance Single submitter
PDLIM3 p.Thr4Met Conflicting Single submitter
dilated cardiomyopathy
PDLIM3 p.Thr4Pro Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Tyr355Cys Uncertain significance Single submitter
PDLIM3 p.Val186Glu Uncertain significance Single submitter
PDLIM3 p.Val210Ala Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Val210Phe Uncertain significance Single submitter
PDLIM3 p.Val233Leu Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Val233Met Uncertain significance Single submitter
dilated cardiomyopathy
PDLIM3 p.Val319Leu Uncertain significance Single submitter
dilated cardiomyopathy

All PDLIM3 variants

Conflicting classifications of pathogenicity 15

c.330+6C>T Single submitter dilated cardiomyopathy
c.399-10A>G Single submitter dilated cardiomyopathy
p.Arg241Gln Single submitter dilated cardiomyopathy ⚠
p.Arg290Lys Single submitter dilated cardiomyopathy ⚠
p.Arg82= Single submitter hypertrophic cardiomyopathy
p.Asp239Asn Single submitter dilated cardiomyopathy ⚠
p.Asp262Asn Single submitter dilated cardiomyopathy ⚠
p.Glu58fs Single submitter hypertrophic cardiomyopathy
p.Gly258= Single submitter hypertrophic cardiomyopathy
p.Pro10Leu Single submitter dilated cardiomyopathy ⚠
p.Pro228Leu Single submitter Cardiovascular phenotype ⚠
p.Ser221= Single submitter dilated cardiomyopathy
p.Thr343Ala Single submitter dilated cardiomyopathy ⚠
p.Thr4Met Single submitter dilated cardiomyopathy ⚠
p.Thr57Ala Single submitter hypertrophic cardiomyopathy ⚠

Benign 38

c.246-104G>A Multiple submitters
c.246-98T>G Multiple submitters
c.330+281A>G Multiple submitters
c.331-143G>A Multiple submitters
c.331-179A>C Multiple submitters
c.662+106A>G Multiple submitters
c.663-16C>T Multiple submitters hypertrophic cardiomyopathy
c.663-35A>G Multiple submitters
c.663-65T>C Multiple submitters
c.905+58T>C Multiple submitters
c.906-18C>T Multiple submitters hypertrophic cardiomyopathy
c.906-40C>T Multiple submitters
c.94-38G>T Multiple submitters
c.-268G>A Multiple submitters
c.*12C>T Multiple submitters
p.Val302= Multiple submitters hypertrophic cardiomyopathy
c.245+156A>C Single submitter
c.245+310C>T Single submitter
c.246-133_246-131dup Single submitter
c.246-133_246-132dup Single submitter
c.246-133dup Single submitter
c.246-170del Single submitter
c.246-178dup Single submitter
c.330+249_330+250del Single submitter
c.330+264_330+266del Single submitter
c.331-826del Single submitter
c.399-112C>G Single submitter
c.399-181G>A Single submitter
c.399-258G>A Single submitter
c.399-275A>C Single submitter
c.399-4A>G Single submitter hypertrophic cardiomyopathy
c.662+172A>C Single submitter
c.794-120C>T Single submitter
c.905+328T>C Single submitter
c.906-99_906-98del Single submitter
c.-29= Single submitter
c.*19C>T Single submitter
c.*92_*125del Single submitter

Benign/Likely benign 14

c.246-9_246-5del Multiple submitters dilated cardiomyopathy
c.-9G>T Multiple submitters
p.Ala38= Multiple submitters dilated cardiomyopathy
p.Asp232= Multiple submitters dilated cardiomyopathy
p.Gly14= Multiple submitters hypertrophic cardiomyopathy
p.Gly20= Multiple submitters hypertrophic cardiomyopathy
p.Gly283= Multiple submitters hypertrophic cardiomyopathy
p.Gly331= Multiple submitters dilated cardiomyopathy
p.Gly54= Multiple submitters hypertrophic cardiomyopathy
p.Pro277= Multiple submitters hypertrophic cardiomyopathy
p.Pro351= Multiple submitters dilated cardiomyopathy
p.Ser139= Multiple submitters hypertrophic cardiomyopathy
p.Ser226= Multiple submitters hypertrophic cardiomyopathy
p.Thr245Ile Multiple submitters Cardiovascular phenotype

Likely benign 135

c.399-18G>A Multiple submitters hypertrophic cardiomyopathy
c.663-207C>T Multiple submitters
c.663-279A>G Multiple submitters
c.793+29G>A Multiple submitters
c.906-282T>C Multiple submitters
c.93+16C>A Multiple submitters dilated cardiomyopathy
c.*89A>G Multiple submitters
p.Ala308= Multiple submitters dilated cardiomyopathy
p.Arg235= Multiple submitters dilated cardiomyopathy
p.Arg241= Multiple submitters hypertrophic cardiomyopathy
p.Arg254= Multiple submitters
p.Arg309= Multiple submitters dilated cardiomyopathy
p.Asp22= Multiple submitters hypertrophic cardiomyopathy
p.Asp53= Multiple submitters dilated cardiomyopathy
p.Gln189= Multiple submitters dilated cardiomyopathy
p.Gly286= Multiple submitters dilated cardiomyopathy
p.Gly287= Multiple submitters dilated cardiomyopathy
p.Gly298= Multiple submitters dilated cardiomyopathy
p.Gly56= Multiple submitters dilated cardiomyopathy
p.Gly9= Multiple submitters dilated cardiomyopathy
p.His238= Multiple submitters hypertrophic cardiomyopathy
p.His344= Multiple submitters dilated cardiomyopathy
p.Leu196= Multiple submitters dilated cardiomyopathy
p.Leu237= Multiple submitters hypertrophic cardiomyopathy
p.Leu293= Multiple submitters dilated cardiomyopathy
p.Leu325= Multiple submitters dilated cardiomyopathy
p.Leu87= Multiple submitters dilated cardiomyopathy
p.Pro193= Multiple submitters dilated cardiomyopathy
p.Pro229= Multiple submitters dilated cardiomyopathy
p.Pro268= Multiple submitters dilated cardiomyopathy
p.Pro292= Multiple submitters dilated cardiomyopathy
p.Ser136= Multiple submitters dilated cardiomyopathy
p.Ser18= Multiple submitters hypertrophic cardiomyopathy
p.Ser231= Multiple submitters dilated cardiomyopathy
p.Ser250= Multiple submitters hypertrophic cardiomyopathy
p.Ter365= Multiple submitters dilated cardiomyopathy
p.Thr158= Multiple submitters dilated cardiomyopathy
p.Thr279= Multiple submitters dilated cardiomyopathy
p.Thr343= Multiple submitters dilated cardiomyopathy
p.Thr357= Multiple submitters dilated cardiomyopathy
p.Val281= Multiple submitters dilated cardiomyopathy
c.245+157G>A Single submitter
c.245+255G>A Single submitter
c.246-177G>C Single submitter
c.246-19A>G Single submitter dilated cardiomyopathy
c.246-9T>C Single submitter dilated cardiomyopathy
c.330+146T>C Single submitter
c.330+7G>A Single submitter hypertrophic cardiomyopathy
c.399-12C>G Single submitter dilated cardiomyopathy
c.399-17dup Single submitter dilated cardiomyopathy
c.399-19C>T Single submitter dilated cardiomyopathy
c.399-4A>C Single submitter dilated cardiomyopathy
c.399-8T>G Single submitter dilated cardiomyopathy
c.399-9T>C Single submitter hypertrophic cardiomyopathy
c.662+229G>T Single submitter
c.662+7T>C Single submitter dilated cardiomyopathy
c.663-15G>A Single submitter dilated cardiomyopathy
c.663-18G>A Single submitter dilated cardiomyopathy
c.663-19C>T Single submitter dilated cardiomyopathy
c.793+11G>A Single submitter hypertrophic cardiomyopathy
c.793+19C>G Single submitter hypertrophic cardiomyopathy
c.793+48C>T Single submitter
c.794-147G>A Single submitter
c.794-14G>C Single submitter dilated cardiomyopathy
c.794-15C>T Single submitter dilated cardiomyopathy
c.905+10A>G Single submitter hypertrophic cardiomyopathy
c.905+18C>G Single submitter dilated cardiomyopathy
c.905+322G>A Single submitter
c.906-15T>A Single submitter dilated cardiomyopathy
c.906-17G>A Single submitter dilated cardiomyopathy
c.906-18C>G Single submitter hypertrophic cardiomyopathy
c.906-7C>G Single submitter dilated cardiomyopathy
c.906-8C>T Single submitter dilated cardiomyopathy
c.906-9C>G Single submitter dilated cardiomyopathy
c.93+10G>A Single submitter dilated cardiomyopathy
c.93+13A>C Single submitter dilated cardiomyopathy
c.93+7G>A Single submitter dilated cardiomyopathy
c.93+9C>A Single submitter dilated cardiomyopathy
c.93+9C>G Single submitter dilated cardiomyopathy
c.94-11A>T Single submitter dilated cardiomyopathy
c.94-13T>C Single submitter
c.94-14A>G Single submitter dilated cardiomyopathy
c.94-263A>C Single submitter
c.94-7C>A Single submitter dilated cardiomyopathy
c.-33C>T Single submitter
c.*188dup Single submitter
p.Ala167= Single submitter
p.Ala321= Single submitter dilated cardiomyopathy
p.Ala345= Single submitter dilated cardiomyopathy
p.Ala65= Single submitter dilated cardiomyopathy
p.Ala73= Single submitter
p.Arg16= Single submitter
p.Arg248= Single submitter dilated cardiomyopathy
p.Arg313= Single submitter
p.Asp142= Single submitter
p.Asp261= Single submitter dilated cardiomyopathy
p.Asp310= Single submitter
p.Asp67= Single submitter
p.Cys143= Single submitter
p.Glu179= Single submitter dilated cardiomyopathy
p.Gly140= Single submitter
p.Gly258Glu Single submitter
p.Gly35= Single submitter
p.Gly46= Single submitter dilated cardiomyopathy
p.His282= Single submitter hypertrophic cardiomyopathy
p.His86= Single submitter hypertrophic cardiomyopathy
p.Ile32= Single submitter
p.Ile6= Single submitter hypertrophic cardiomyopathy
p.Ile80= Single submitter hypertrophic cardiomyopathy
p.Leu206= Single submitter
p.Lys350= Single submitter
p.Met259Leu Single submitter
p.Phe101= Single submitter
p.Phe253= Single submitter
p.Phe318= Single submitter dilated cardiomyopathy
p.Pro138= Single submitter
p.Pro247= Single submitter
p.Pro90= Single submitter dilated cardiomyopathy
p.Ser151= Single submitter
p.Ser198= Single submitter dilated cardiomyopathy
p.Ser285= Single submitter dilated cardiomyopathy
p.Ser59= Single submitter dilated cardiomyopathy
p.Thr155= Single submitter hypertrophic cardiomyopathy
p.Thr192= Single submitter
p.Thr224= Single submitter dilated cardiomyopathy
p.Thr33= Single submitter
p.Thr4= Single submitter
p.Thr57= Single submitter dilated cardiomyopathy
p.Thr85= Single submitter
p.Tyr234= Single submitter
p.Val186= Single submitter dilated cardiomyopathy
p.Val260= Single submitter dilated cardiomyopathy
p.Val274= Single submitter hypertrophic cardiomyopathy
p.Val278= Single submitter dilated cardiomyopathy
p.Val358= Single submitter

Uncertain significance 267

p.Ala168Val Multiple submitters dilated cardiomyopathy ⚠
p.Ala171Thr Multiple submitters dilated cardiomyopathy ⚠
p.Ala304Gly Multiple submitters dilated cardiomyopathy ⚠
p.Ala308Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala308Val Multiple submitters dilated cardiomyopathy ⚠
p.Ala345Thr Multiple submitters dilated cardiomyopathy ⚠
p.Ala347Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala38Val Multiple submitters dilated cardiomyopathy ⚠
p.Ala51Val Multiple submitters dilated cardiomyopathy
p.Arg147Cys Multiple submitters dilated cardiomyopathy ⚠
p.Arg147His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg16Met Multiple submitters dilated cardiomyopathy ⚠
p.Arg235Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg248His Multiple submitters ⚠
p.Arg267Cys Multiple submitters dilated cardiomyopathy ⚠
p.Arg272Trp Multiple submitters dilated cardiomyopathy ⚠
p.Arg309Gln Multiple submitters dilated cardiomyopathy ⚠
p.Arg313Gln Multiple submitters dilated cardiomyopathy ⚠
p.Arg31Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg346Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn201Ser Multiple submitters dilated cardiomyopathy ⚠
p.Asp199Glu Multiple submitters dilated cardiomyopathy ⚠
p.Asp232Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp265Gly Multiple submitters dilated cardiomyopathy ⚠
p.Asp310Asn Multiple submitters dilated cardiomyopathy ⚠
p.Asp81Glu Multiple submitters dilated cardiomyopathy ⚠
p.Gln3Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu177Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu222Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu230Lys Multiple submitters dilated cardiomyopathy ⚠
p.Glu243Lys Multiple submitters dilated cardiomyopathy ⚠
p.Glu316Lys Multiple submitters dilated cardiomyopathy ⚠
p.Glu336Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu342Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly140Arg Multiple submitters dilated cardiomyopathy ⚠
p.Gly14Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly162Asp Multiple submitters dilated cardiomyopathy ⚠
p.Gly215Glu Multiple submitters dilated cardiomyopathy ⚠
p.Gly283Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly284Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly300Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly331Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly54Ser Multiple submitters dilated cardiomyopathy
p.His74Gln Multiple submitters dilated cardiomyopathy ⚠
p.Ile141Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile159Asn Multiple submitters dilated cardiomyopathy ⚠
p.Leu219Phe Multiple submitters dilated cardiomyopathy ⚠
p.Leu256Phe Multiple submitters dilated cardiomyopathy ⚠
p.Leu327Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu43Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys296Ile Multiple submitters dilated cardiomyopathy ⚠
p.Met178Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met220Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met60fs Multiple submitters dilated cardiomyopathy
p.Pro100Ser Multiple submitters dilated cardiomyopathy ⚠
p.Pro218Thr Multiple submitters dilated cardiomyopathy ⚠
p.Pro244His Multiple submitters dilated cardiomyopathy ⚠
p.Pro268Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro277Leu Multiple submitters dilated cardiomyopathy ⚠
p.Pro292Arg Multiple submitters dilated cardiomyopathy ⚠
p.Pro292Leu Multiple submitters dilated cardiomyopathy ⚠
p.Pro90Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser107Pro Multiple submitters dilated cardiomyopathy ⚠
p.Ser226Leu Multiple submitters dilated cardiomyopathy ⚠
p.Ser226Pro Multiple submitters dilated cardiomyopathy ⚠
p.Ser231Leu Multiple submitters dilated cardiomyopathy ⚠
p.Ser250Leu Multiple submitters dilated cardiomyopathy ⚠
p.Ser299Arg Multiple submitters Cardiovascular phenotype
p.Ser299Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser89Cys Multiple submitters dilated cardiomyopathy ⚠
p.Ser93Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr271Met Multiple submitters dilated cardiomyopathy ⚠
p.Thr279Met Multiple submitters dilated cardiomyopathy ⚠
p.Thr357Met Multiple submitters dilated cardiomyopathy ⚠
p.Trp88Arg Multiple submitters dilated cardiomyopathy ⚠
p.Tyr355His Multiple submitters dilated cardiomyopathy ⚠
p.Tyr361Cys Multiple submitters dilated cardiomyopathy ⚠
p.Val260Gly Multiple submitters dilated cardiomyopathy ⚠
p.Val260Met Multiple submitters dilated cardiomyopathy ⚠
p.Val305Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Val306Ala Multiple submitters dilated cardiomyopathy ⚠
p.Val319Met Multiple submitters dilated cardiomyopathy ⚠
p.Val5Ala Multiple submitters dilated cardiomyopathy ⚠
c.(?_1 Single submitter
c.330+2T>C Single submitter dilated cardiomyopathy
c.399-3_399-2del Single submitter dilated cardiomyopathy
c.519-1906_519-1871del Single submitter hypertrophic cardiomyopathy
c.60_93+59del Single submitter dilated cardiomyopathy
c.663-15_663-11dup Single submitter dilated cardiomyopathy
c.663-1G>A Single submitter dilated cardiomyopathy
c.793+5G>A Single submitter dilated cardiomyopathy
c.794-9_794-6del Single submitter dilated cardiomyopathy
c.906-2A>G Single submitter dilated cardiomyopathy
c.906-4A>G Single submitter dilated cardiomyopathy
c.93+2_93+4del Single submitter hypertrophic cardiomyopathy
c.93+5G>A Single submitter
c.93+5G>C Single submitter
c.-124_330+?dup454 Single submitter hypertrophic cardiomyopathy
c.-124_*1634dup2853 Single submitter hypertrophic cardiomyopathy
p.Ala167Ser Single submitter ⚠
p.Ala167Val Single submitter dilated cardiomyopathy ⚠
p.Ala171Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Ala188Asp Single submitter dilated cardiomyopathy ⚠
p.Ala225fs Single submitter dilated cardiomyopathy
p.Ala225Gly Single submitter dilated cardiomyopathy ⚠
p.Ala225Thr Single submitter ⚠
p.Ala269fs Single submitter hypertrophic cardiomyopathy
p.Ala276Val Single submitter ⚠
p.Ala345Pro Single submitter dilated cardiomyopathy ⚠
p.Ala347Thr Single submitter ⚠
p.Ala40Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala40Val Single submitter ⚠
p.Ala65Val Single submitter dilated cardiomyopathy ⚠
p.Arg16Lys Single submitter ⚠
p.Arg235Gly Single submitter dilated cardiomyopathy ⚠
p.Arg235Trp Single submitter dilated cardiomyopathy ⚠
p.Arg241Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Arg241Trp Single submitter ⚠
p.Arg267His Single submitter dilated cardiomyopathy ⚠
p.Arg272Gln Single submitter dilated cardiomyopathy ⚠
p.Arg313Trp Single submitter hypertrophic cardiomyopathy ⚠
p.Arg31Thr Single submitter dilated cardiomyopathy ⚠
p.Arg348Cys Single submitter dilated cardiomyopathy ⚠
p.Arg348His Single submitter dilated cardiomyopathy
p.Arg348Leu Single submitter dilated cardiomyopathy ⚠
p.Arg68Gly Single submitter ⚠
p.Asn104Ser Single submitter ⚠
p.Asn191Lys Single submitter ⚠
p.Asn242Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Asn326Lys Single submitter dilated cardiomyopathy ⚠
p.Asn42His Single submitter ⚠
p.Asn42Ile Single submitter ⚠
p.Asp239Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Asp322Asn Single submitter dilated cardiomyopathy
p.Asp322Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Asp47Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Asp64Tyr Single submitter
p.Asp81Tyr Single submitter ⚠
p.Cys143fs Single submitter hypertrophic cardiomyopathy
p.Cys294_Asp295delinsTer Single submitter dilated cardiomyopathy
p.Cys297Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Cys317Arg Single submitter ⚠
p.Cys320Tyr Single submitter ⚠
p.Cys44Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Cys77Trp Single submitter dilated cardiomyopathy ⚠
p.Gln110Glu Single submitter ⚠
p.Gln189Arg Single submitter hypertrophic cardiomyopathy ⚠
p.Gln25Ter Single submitter dilated cardiomyopathy
p.Gln289fs Single submitter dilated cardiomyopathy
p.Gln91= Single submitter dilated cardiomyopathy
p.Gln91Arg Single submitter ⚠
p.Glu106Ala Single submitter dilated cardiomyopathy ⚠
p.Glu106fs Single submitter dilated cardiomyopathy
p.Glu222Ter Single submitter dilated cardiomyopathy
p.Glu230Asp Single submitter ⚠
p.Glu230Gln Single submitter dilated cardiomyopathy ⚠
p.Gly19Ala Single submitter hypertrophic cardiomyopathy ⚠
p.Gly19Glu Single submitter ⚠
p.Gly20Cys Single submitter hypertrophic cardiomyopathy ⚠
p.Gly251Ser Single submitter dilated cardiomyopathy ⚠
p.Gly284Ser Single submitter dilated cardiomyopathy ⚠
p.Gly286Asp Single submitter ⚠
p.Gly286fs Single submitter dilated cardiomyopathy
p.Gly286Ser Single submitter ⚠
p.Gly298Glu Single submitter dilated cardiomyopathy ⚠
p.Gly303Val Single submitter dilated cardiomyopathy ⚠
p.Gly354Ser Single submitter dilated cardiomyopathy ⚠
p.Gly46Arg Single submitter ⚠
p.Gly54Asp Single submitter dilated cardiomyopathy ⚠
p.Gly54Cys Single submitter ⚠
p.Gly9Ser Single submitter dilated cardiomyopathy ⚠
p.His282Arg Single submitter dilated cardiomyopathy ⚠
p.His86Arg Single submitter dilated cardiomyopathy ⚠
p.Ile141Asn Single submitter hypertrophic cardiomyopathy ⚠
p.Ile141Val Single submitter ⚠
p.Ile159Val Single submitter dilated cardiomyopathy ⚠
p.Ile174Val Single submitter ⚠
p.Ile185Thr Single submitter dilated cardiomyopathy ⚠
p.Ile202Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ile21fs Single submitter dilated cardiomyopathy
p.Ile21Thr Single submitter ⚠
p.Ile21Val Single submitter ⚠
p.Ile335Thr Single submitter
p.Ile52Val Single submitter dilated cardiomyopathy ⚠
p.Ile6Asn Single submitter dilated cardiomyopathy ⚠
p.Ile6Phe Single submitter ⚠
p.Ile80Met Single submitter ⚠
p.Leu206_Thr212del Single submitter hypertrophic cardiomyopathy
p.Leu360= Single submitter
p.Leu76Met Single submitter ⚠
p.Leu7fs Single submitter hypertrophic cardiomyopathy
p.Leu7Phe Single submitter ⚠
p.Leu87fs Single submitter dilated cardiomyopathy
p.Leu87Ter Single submitter dilated cardiomyopathy
p.Lys169Glu Single submitter dilated cardiomyopathy ⚠
p.Lys184Asn Single submitter dilated cardiomyopathy ⚠
p.Lys280Gln Single submitter ⚠
p.Lys328Arg Single submitter ⚠
p.Lys330Asn Single submitter ⚠
p.Lys330Thr Single submitter dilated cardiomyopathy ⚠
p.Lys70Asn Single submitter dilated cardiomyopathy ⚠
p.Lys79Arg Single submitter dilated cardiomyopathy ⚠
p.Met1_Gln3del Single submitter dilated cardiomyopathy
p.Met178Ile Single submitter ⚠
p.Met194Thr Single submitter ⚠
p.Met1Ile Single submitter dilated cardiomyopathy
p.Met203Thr Single submitter dilated cardiomyopathy ⚠
p.Met220Arg Single submitter ⚠
p.Met236Leu Single submitter dilated cardiomyopathy ⚠
p.Met60Leu Single submitter dilated cardiomyopathy ⚠
p.Phe190Leu Single submitter dilated cardiomyopathy ⚠
p.Phe23Leu Single submitter dilated cardiomyopathy ⚠
p.Phe253Leu Single submitter ⚠
p.Phe318Leu Single submitter dilated cardiomyopathy ⚠
p.Phe318Val Single submitter ⚠
p.Pro12Ser Single submitter ⚠
p.Pro150Ser Single submitter ⚠
p.Pro218Ser Single submitter dilated cardiomyopathy ⚠
p.Pro223Ala Single submitter ⚠
p.Pro223Thr Single submitter dilated cardiomyopathy ⚠
p.Pro244Leu Single submitter ⚠
p.Pro268Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Pro2Thr Single submitter dilated cardiomyopathy ⚠
p.Pro315Asn Single submitter dilated cardiomyopathy
p.Pro315His Single submitter ⚠
p.Pro315Ser Single submitter dilated cardiomyopathy ⚠
p.Pro315Thr Single submitter ⚠
p.Pro352Ser Single submitter dilated cardiomyopathy
p.Pro8Ala Single submitter ⚠
p.Pro8Arg Single submitter ⚠
p.Pro8Leu Single submitter dilated cardiomyopathy ⚠
p.Pro90Ala Single submitter dilated cardiomyopathy
p.Ser107_Glu108del Single submitter dilated cardiomyopathy
p.Ser145Asn Single submitter dilated cardiomyopathy ⚠
p.Ser151Thr Single submitter ⚠
p.Ser198Leu Single submitter ⚠
p.Ser221Ile Single submitter dilated cardiomyopathy ⚠
p.Ser252Ala Single submitter ⚠
p.Ser273Asn Single submitter dilated cardiomyopathy ⚠
p.Ser285Ter Single submitter dilated cardiomyopathy
p.Ser36Asn Single submitter dilated cardiomyopathy ⚠
p.Thr205Ile Single submitter ⚠
p.Thr271Lys Single submitter ⚠
p.Thr279Lys Single submitter dilated cardiomyopathy ⚠
p.Thr30Ile Single submitter ⚠
p.Thr357Ala Single submitter dilated cardiomyopathy ⚠
p.Thr359Ile Single submitter ⚠
p.Thr4Lys Single submitter hypertrophic cardiomyopathy ⚠
p.Thr4Pro Single submitter dilated cardiomyopathy ⚠
p.Trp88Cys Single submitter dilated cardiomyopathy ⚠
p.Tyr197His Single submitter hypertrophic cardiomyopathy ⚠
p.Tyr234Ter Single submitter
p.Tyr355Cys Single submitter ⚠
p.Val183Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Val186Glu Single submitter ⚠
p.Val210Ala Single submitter dilated cardiomyopathy ⚠
p.Val210Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Val210Phe Single submitter ⚠
p.Val233Leu Single submitter dilated cardiomyopathy ⚠
p.Val233Met Single submitter dilated cardiomyopathy ⚠
p.Val255Leu Single submitter dilated cardiomyopathy ⚠
p.Val302Ile Single submitter ⚠
p.Val306Met Single submitter dilated cardiomyopathy ⚠
p.Val319Ala Single submitter hypertrophic cardiomyopathy
p.Val319Leu Single submitter dilated cardiomyopathy ⚠
p.Val358Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Arg309Trp No assertion criteria ⚠