NEXN — 805 ClinVar variants

All ClinVar germline NEXN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 384 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 65 Conflicting · 22 Benign · 17 Benign/Likely benign · 196 Likely benign · 482 Uncertain significance

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

⚑ Evidence disagreements 384

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 15

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

NEXN p.Asp81Val Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Glu205Lys Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Glu206Lys Conflicting Single submitter
dilated cardiomyopathy 1CC
NEXN p.Ile301Asn Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Leu479Phe Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Leu669Phe Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Thr156Met Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Thr181Ile Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Thr298Arg Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Thr591Ala Conflicting Single submitter
dilated cardiomyopathy 1CC
NEXN p.Thr666Ala Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Tyr212Asn Conflicting Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Tyr652Cys Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Val495Ala Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Val497Ile Conflicting Single submitter
hypertrophic cardiomyopathy 20

Predictors lean, ClinVar uncertain 246

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 246

NEXN p.Ala476Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala486Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala500Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala500Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala523Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Arg141His Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg146Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg209Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg256Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Arg262Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Arg286Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg306Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg306His Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg391Gln Uncertain significance Multiple submitters
NEXN p.Arg392Gln Uncertain significance Multiple submitters
dilated cardiomyopathy
NEXN p.Arg397Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg471Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Arg484Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Arg539Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg578Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg633Lys Uncertain significance Multiple submitters
NEXN-related disorder
NEXN p.Asn261Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Asp166Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Asp207Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Asp292Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Asp33Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Asp493Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Asp494Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Asp548Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Asp595Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Cys667Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Gln131Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Gln215Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Gln215Glu Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Gln265Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu124Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu164Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu232Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu291Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu414Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Glu417Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu560Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu574Lys Uncertain significance Multiple submitters
cardiomyopathy
NEXN p.Glu575Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu59Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu620Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu632Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Glu83Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu84Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Gly29Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Gly661Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.His399Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.His490Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile467Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile477Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile477Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile565Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile62Asn Uncertain significance Multiple submitters
NEXN-related disorder
NEXN p.Ile74Leu Uncertain significance Multiple submitters
NEXN p.Lys203Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Lys510Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Lys554Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Lys674Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Phe251Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Phe302Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Phe344Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Pro19Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Pro244Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Pro358Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Pro358Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Pro371Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Ser357Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ser503Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Ser50Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Thr121Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Thr363Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Thr363Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Thr424Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1A
NEXN p.Thr508Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Thr602Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Thr666Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Tyr305Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Val18Ile Uncertain significance Multiple submitters
cardiomyopathy
NEXN p.Val352Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Val599Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala280Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ala299Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ala329Ser Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ala472Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ala500Glu Uncertain significance Single submitter
cardiomyopathy
NEXN p.Ala79Ser Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg211Ser Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Arg258Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
NEXN p.Arg335Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg392Leu Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg439Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg474Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg474Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Arg48Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg516Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg539Leu Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg545Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asn154Asp Uncertain significance Single submitter
dilated cardiomyopathy 1A
NEXN p.Asn290Asp Uncertain significance Single submitter
NEXN p.Asn350Ser Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Asn512Ser Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Asn659Ser Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asn675Ile Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asp231Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asp297His Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Asp355Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asp356His Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Asp494Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Asp52Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Asp648Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Asp82Asn Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Asp85Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Cys224Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Gln112Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Gln257Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Gln39Arg Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Gln406His Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Gln413Arg Uncertain significance Single submitter
dilated cardiomyopathy
NEXN p.Gln529Glu Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Gln529Lys Uncertain significance Single submitter
cardiomyopathy
NEXN p.Gln623Glu Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Gln72Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu135Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Glu163Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu195Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu200Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu291Asp Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu389Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu409Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Glu417Ala Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu420Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu421Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu421Val Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu423Lys Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Glu469Asp Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu469Gln Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Glu504Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu556Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu558Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu560Gln Uncertain significance Single submitter
cardiomyopathy
NEXN p.Glu561Asp Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Glu562Gln Uncertain significance Single submitter
NEXN p.Glu562Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu64Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu76Gly Uncertain significance Single submitter
Cardiovascular phenotype

Predictors split 123

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

NEXN p.Ala266Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala343Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg127Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg273Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Arg273His Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Arg279His Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg349Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg391Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg392Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Arg412Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Arg42Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Arg473Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Asp478Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Gln265Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu115Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Glu122Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu268Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu283Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu323Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu36Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Glu388Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu53Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Glu59Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu618Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Glu64Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Glu651Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Gly245Arg Benign Multiple submitters
Cardiovascular phenotype
NEXN p.Gly29Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Gly456Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Gly580Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile139Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Ile337Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile532Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
NEXN p.Ile547Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Ile547Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ile631Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Ile671Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Leu227Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Lys510Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Met351Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Met415Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1CC
NEXN p.Met540Val Benign/Likely benign Multiple submitters
Cardiovascular phenotype
NEXN p.Met653Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Phe408Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ser673Arg Uncertain significance Multiple submitters
cardiomyopathy
NEXN p.Trp583Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 20
NEXN p.Tyr22Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NEXN p.Ala280Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ala472Gly Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Ala664Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg196Cys Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Arg196His Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg196Ser Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg201Trp Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg279Cys Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Arg286Trp Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Arg327Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg327Met Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg397Trp Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Arg45Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Arg633Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asn512Ile Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asp355His Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
NEXN p.Asp3Val Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asp478His Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Asp82His Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Gln629Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Glu268Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Glu276Lys Likely benign Single submitter
hypertrophic cardiomyopathy
NEXN p.Glu316Lys Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Glu323Gly Likely benign Single submitter
NEXN p.Glu330Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Glu331Asp Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu332Ala Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Glu332Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu338Asp Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu338Gln Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Glu339Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu380Val Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu387Gln Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu396Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu433Lys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu491Gln Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Glu527Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu561Gly Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Glu612Gly Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Glu643Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Gly441Asp Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Gly441Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Ile10Ser Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ile171Thr Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Ile376Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ile463Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Leu11Pro Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Leu312His Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Leu312Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 20
NEXN p.Leu374Arg Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Leu434Arg Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys136Asn Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys16Glu Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys194Asn Uncertain significance Single submitter
NEXN p.Lys199Glu Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys20Asn Uncertain significance Single submitter
cardiomyopathy
NEXN p.Lys341Asn Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys342Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys522Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Lys553Asn Uncertain significance Single submitter
dilated cardiomyopathy 1CC
NEXN p.Met513Ile Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Met540Ile Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Met540Thr Uncertain significance Single submitter
dilated cardiomyopathy
NEXN p.Met653Thr Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Phe517Tyr Conflicting Single submitter
cardiomyopathy
NEXN p.Phe601Leu Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Phe617Cys Uncertain significance Single submitter
NEXN p.Phe645Leu Conflicting Single submitter
NEXN p.Pro642Ala Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Pro642Ser Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ser50Pro Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Ser596Arg Conflicting Single submitter
Cardiovascular phenotype
NEXN p.Ser665Ile Conflicting Single submitter
dilated cardiomyopathy 1CC
NEXN p.Trp67Cys Uncertain significance Single submitter
NEXN p.Tyr628Cys Uncertain significance Single submitter
Cardiovascular phenotype
NEXN p.Gly563Cys Uncertain significance No assertion criteria
hypertrophic cardiomyopathy 20

All NEXN variants

Pathogenic 14

p.Gly100Ter Multiple submitters dilated cardiomyopathy 1CC
p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer Single submitter hypertrophic cardiomyopathy 20
p.Arg501Ter Single submitter hypertrophic cardiomyopathy 20
p.Glu240fs Single submitter hypertrophic cardiomyopathy 20
p.Glu267fs Single submitter hypertrophic cardiomyopathy 20
p.Glu339fs Single submitter dilated cardiomyopathy 1CC
p.Lys272fs Single submitter dilated cardiomyopathy 1CC
p.Lys362Ter Single submitter hypertrophic cardiomyopathy 20
p.Lys390fs Single submitter dilated cardiomyopathy 1CC
p.Met513fs Single submitter dilated cardiomyopathy 1CC
p.Ser226fs Single submitter hypertrophic cardiomyopathy 20
p.Ser450fs Single submitter dilated cardiomyopathy 1CC
p.Val173fs Single submitter dilated cardiomyopathy 1CC
p.Met386fs No assertion criteria cardiomyopathy, dilated, 2M

Pathogenic/Likely pathogenic 1

p.Ile435fs Multiple submitters NEXN-related disorder

Likely pathogenic 8

c.1251+1del Multiple submitters dilated cardiomyopathy 1CC
c.687+2T>C Single submitter dilated cardiomyopathy 1CC
c.688-1G>A Single submitter dilated cardiomyopathy 1CC
c.865-9_892del Single submitter hypertrophic cardiomyopathy 20
p.Arg322_Glu323insTer Single submitter cardiomyopathy, dilated, 2M
p.Gln265fs Single submitter dilated cardiomyopathy 1CC
p.Glu421Ter Single submitter cardiomyopathy, dilated, 2M
p.Glu76Ter Single submitter dilated cardiomyopathy 1CC

Conflicting classifications of pathogenicity 65

c.1053+1G>A Single submitter NEXN-related disorder
c.1252-11T>G Single submitter hypertrophic cardiomyopathy 20
c.1252-1G>A Single submitter hypertrophic cardiomyopathy 20
c.1660-11_1660-7del Single submitter hypertrophic cardiomyopathy 20
c.687+4A>T Single submitter Cardiovascular phenotype
c.688-1G>C Single submitter dilated cardiomyopathy 1CC
c.865-5G>A Single submitter Cardiovascular phenotype
c.*4CT[1] Single submitter cardiomyopathy
p.Ala472Gly Single submitter Cardiovascular phenotype ⚠
p.Arg125Ter Single submitter hypertrophic cardiomyopathy 20
p.Arg196Cys Single submitter Cardiovascular phenotype ⚠
p.Arg262Ter Single submitter Cardiovascular phenotype
p.Arg279Cys Single submitter Cardiovascular phenotype ⚠
p.Arg286Trp Single submitter Cardiovascular phenotype ⚠
p.Arg321fs Single submitter hypertrophic cardiomyopathy 20
p.Arg391Ter Single submitter dilated cardiomyopathy 1CC
p.Arg392Ter Single submitter Abnormal cardiac test
p.Arg471Ter Single submitter hypertrophic cardiomyopathy 20
p.Arg475del Single submitter Cardiovascular phenotype
p.Arg484Ter Single submitter hypertrophic cardiomyopathy 20
p.Arg501fs Single submitter Cardiovascular phenotype
p.Arg530fs Single submitter Cardiovascular phenotype
p.Asn154fs Single submitter hypertrophic cardiomyopathy 20
p.Asn590= Single submitter Cardiovascular phenotype
p.Asp3del Single submitter dilated cardiomyopathy 1CC
p.Asp627fs Single submitter Left ventricular noncompaction cardiomyopathy
p.Asp81Val Single submitter Cardiovascular phenotype ⚠
p.Gln410Ter Single submitter Cardiovascular phenotype
p.Glu205Lys Single submitter Cardiovascular phenotype ⚠
p.Glu206Lys Single submitter dilated cardiomyopathy 1CC ⚠
p.Glu267Ter Single submitter Cardiovascular phenotype
p.Glu331Ter Single submitter hypertrophic cardiomyopathy 20
p.Glu332Ala Single submitter Cardiovascular phenotype ⚠
p.Glu332del Single submitter Cardiovascular phenotype
p.Glu375Ter Single submitter Cardiovascular phenotype
p.Glu430_Tyr431insTer Single submitter NEXN-related disorder
p.Glu470del Single submitter Cardiovascular phenotype
p.Glu485Lys Single submitter Cardiovascular phenotype
p.Glu491Gln Single submitter Cardiovascular phenotype ⚠
p.Glu528del Single submitter Cardiovascular phenotype
p.Glu562dup Single submitter Cardiovascular phenotype
p.Glu83= Single submitter Cardiovascular phenotype
p.Gly650del Single submitter NEXN-related disorder
p.Ile150= Single submitter Cardiovascular phenotype
p.Ile171Thr Single submitter Cardiovascular phenotype ⚠
p.Ile301Asn Single submitter Cardiovascular phenotype ⚠
p.Leu479Phe Single submitter Cardiovascular phenotype ⚠
p.Leu669Phe Single submitter Cardiovascular phenotype ⚠
p.Lys536fs Single submitter Cardiovascular phenotype
p.Lys554= Single submitter hypertrophic cardiomyopathy 20
p.Phe517Tyr Single submitter cardiomyopathy ⚠
p.Phe645Leu Single submitter ⚠
p.Pro371= Single submitter Cardiovascular phenotype
p.Ser596Arg Single submitter Cardiovascular phenotype ⚠
p.Ser665Ile Single submitter dilated cardiomyopathy 1CC ⚠
p.Thr156Met Single submitter Cardiovascular phenotype ⚠
p.Thr181Ile Single submitter Cardiovascular phenotype ⚠
p.Thr298Arg Single submitter Cardiovascular phenotype ⚠
p.Thr591Ala Single submitter dilated cardiomyopathy 1CC ⚠
p.Thr666Ala Single submitter Cardiovascular phenotype ⚠
p.Trp67Ter Single submitter dilated cardiomyopathy 1CC
p.Tyr212Asn Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Tyr652Cys Single submitter Cardiovascular phenotype ⚠
p.Val495Ala Single submitter Cardiovascular phenotype ⚠
p.Val497Ile Single submitter hypertrophic cardiomyopathy 20 ⚠

Benign 22

c.1251+43C>G Multiple submitters
c.1251+48T>C Multiple submitters
c.219+25G>A Multiple submitters
c.27+200T>C Multiple submitters
c.27+220A>C Multiple submitters
c.489+106T>C Multiple submitters
c.687+23del Multiple submitters hypertrophic cardiomyopathy 20
c.*22C>G Multiple submitters
p.Gly245Arg Multiple submitters Cardiovascular phenotype ⚠
p.Thr121= Multiple submitters Cardiovascular phenotype
c.1053+128T>C Single submitter
c.1252-301T>C Single submitter
c.1474-198dup Single submitter
c.1660-80del Single submitter
c.28-85del Single submitter
c.489+207C>T Single submitter
c.864+290C>T Single submitter
c.864+294A>G Single submitter
c.-34C>A Single submitter
c.-52-16T>C Single submitter
c.-58T>C Single submitter
c.*414A>C Single submitter

Benign/Likely benign 17

c.1252-10T>G Multiple submitters hypertrophic cardiomyopathy 20
c.1252-5dup Multiple submitters Cardiovascular phenotype
c.1659+18C>G Multiple submitters hypertrophic cardiomyopathy 20
c.687+8TTTG[2] Multiple submitters dilated cardiomyopathy 1CC
c.864+12T>A Multiple submitters hypertrophic cardiomyopathy 20
c.865-17A>G Multiple submitters dilated cardiomyopathy 1CC
p.Ala343= Multiple submitters Cardiovascular phenotype
p.Arg474= Multiple submitters dilated cardiomyopathy 1CC
p.Asp355= Multiple submitters Cardiovascular phenotype
p.Asp52= Multiple submitters dilated cardiomyopathy 1CC
p.Asp595= Multiple submitters Cardiovascular phenotype
p.Gln259= Multiple submitters Cardiovascular phenotype
p.Glu470Gln Multiple submitters Cardiovascular phenotype
p.Leu26= Multiple submitters cardiomyopathy
p.Met317Leu Multiple submitters Cardiovascular phenotype
p.Met540Val Multiple submitters Cardiovascular phenotype ⚠
p.Pro244= Multiple submitters Cardiovascular phenotype

Likely benign 196

c.1252-14_1252-11del Multiple submitters hypertrophic cardiomyopathy 20
c.1252-16T>C Multiple submitters dilated cardiomyopathy 1CC
c.1252-20C>A Multiple submitters dilated cardiomyopathy 1CC
c.1473+15T>C Multiple submitters dilated cardiomyopathy 1CC
c.1474-10T>C Multiple submitters dilated cardiomyopathy 1CC
c.220-19_220-16del Multiple submitters dilated cardiomyopathy 1CC
c.220-6A>G Multiple submitters dilated cardiomyopathy 1CC
c.28-9C>T Multiple submitters dilated cardiomyopathy 1CC
c.299-10A>G Multiple submitters dilated cardiomyopathy 1CC
c.688-10G>A Multiple submitters hypertrophic cardiomyopathy 20
c.865-19G>A Multiple submitters dilated cardiomyopathy 1CC
c.865-9T>C Multiple submitters hypertrophic cardiomyopathy 20
c.*279G>A Multiple submitters
p.Ala237= Multiple submitters Cardiovascular phenotype
p.Ala329= Multiple submitters Cardiovascular phenotype
p.Ala581= Multiple submitters dilated cardiomyopathy 1CC
p.Ala79= Multiple submitters Cardiovascular phenotype
p.Arg348= Multiple submitters hypertrophic cardiomyopathy 20
p.Arg473= Multiple submitters hypertrophic cardiomyopathy 20
p.Arg484= Multiple submitters dilated cardiomyopathy 1CC
p.Arg633= Multiple submitters Cardiovascular phenotype
p.Asn422= Multiple submitters Cardiovascular phenotype
p.Asp152= Multiple submitters dilated cardiomyopathy 1CC
p.Asp324= Multiple submitters hypertrophic cardiomyopathy 20
p.Asp496= Multiple submitters dilated cardiomyopathy 1CC
p.Gln444= Multiple submitters dilated cardiomyopathy 1CC
p.Gln535= Multiple submitters hypertrophic cardiomyopathy 20
p.Gln629= Multiple submitters Cardiovascular phenotype
p.Gln72= Multiple submitters hypertrophic cardiomyopathy 20
p.Glu164= Multiple submitters cardiomyopathy
p.Glu193= Multiple submitters Cardiovascular phenotype
p.Glu528Gln Multiple submitters Cardiovascular phenotype
p.Glu558= Multiple submitters hypertrophic cardiomyopathy 20
p.Glu561= Multiple submitters hypertrophic cardiomyopathy 20
p.Gly568= Multiple submitters Cardiovascular phenotype
p.Gly650= Multiple submitters Cardiovascular phenotype
p.Ile74= Multiple submitters Cardiovascular phenotype
p.Leu169= Multiple submitters Cardiovascular phenotype
p.Leu310= Multiple submitters hypertrophic cardiomyopathy 20
p.Leu537= Multiple submitters hypertrophic cardiomyopathy 20
p.Leu551= Multiple submitters Cardiovascular phenotype
p.Leu641= Multiple submitters Cardiovascular phenotype
p.Lys136= Multiple submitters cardiomyopathy
p.Lys223= Multiple submitters dilated cardiomyopathy 1CC
p.Phe425= Multiple submitters Cardiovascular phenotype
p.Pro217= Multiple submitters Cardiovascular phenotype
p.Pro307= Multiple submitters Cardiovascular phenotype
p.Ser503= Multiple submitters dilated cardiomyopathy 1CC
p.Ser665= Multiple submitters dilated cardiomyopathy 1CC
p.Thr156= Multiple submitters dilated cardiomyopathy 1CC
p.Thr577= Multiple submitters cardiomyopathy
p.Thr591= Multiple submitters Cardiovascular phenotype
p.Thr602= Multiple submitters Cardiovascular phenotype
p.Tyr204= Multiple submitters Cardiovascular phenotype
p.Tyr22= Multiple submitters Cardiovascular phenotype
p.Tyr361= Multiple submitters Cardiovascular phenotype
p.Val174= Multiple submitters Cardiovascular phenotype
p.Val497= Multiple submitters Cardiovascular phenotype
p.Val90= Multiple submitters Cardiovascular phenotype
c.1054-19A>C Single submitter dilated cardiomyopathy 1CC
c.1054-206G>A Single submitter
c.1054-3T>C Single submitter
c.1251+10T>C Single submitter hypertrophic cardiomyopathy 20
c.1251+13G>T Single submitter dilated cardiomyopathy 1CC
c.1252-12T>A Single submitter dilated cardiomyopathy 1CC
c.1252-13A>C Single submitter
c.1252-14A>C Single submitter hypertrophic cardiomyopathy 20
c.1252-19_1252-18del Single submitter dilated cardiomyopathy 1CC
c.1252-241T>C Single submitter
c.1252-6T>C Single submitter hypertrophic cardiomyopathy 20
c.1473+115_1473+119del Single submitter
c.1473+15del Single submitter dilated cardiomyopathy 1CC
c.1473+7dup Single submitter dilated cardiomyopathy 1CC
c.1473+8A>G Single submitter hypertrophic cardiomyopathy 20
c.1474-18T>C Single submitter dilated cardiomyopathy 1CC
c.1474-7C>G Single submitter
c.1659+8G>A Single submitter dilated cardiomyopathy 1CC
c.1659+9C>T Single submitter dilated cardiomyopathy 1CC
c.1660-16A>C Single submitter dilated cardiomyopathy 1CC
c.220-13_220-10del Single submitter dilated cardiomyopathy 1CC
c.220-17T>C Single submitter dilated cardiomyopathy 1CC
c.220-7del Single submitter dilated cardiomyopathy 1CC
c.27+7C>T Single submitter hypertrophic cardiomyopathy 20
c.28-12C>A Single submitter hypertrophic cardiomyopathy 20
c.28-18T>A Single submitter
c.298+16G>A Single submitter hypertrophic cardiomyopathy 20
c.299-17T>C Single submitter dilated cardiomyopathy 1CC
c.448-10C>T Single submitter dilated cardiomyopathy 1CC
c.448-47del Single submitter
c.489+13T>C Single submitter dilated cardiomyopathy 1CC
c.489+19T>C Single submitter hypertrophic cardiomyopathy 20
c.490-14A>G Single submitter dilated cardiomyopathy 1CC
c.490-15T>A Single submitter hypertrophic cardiomyopathy 20
c.490-16C>T Single submitter hypertrophic cardiomyopathy 20
c.490-21_490-18del Single submitter dilated cardiomyopathy 1CC
c.688-11C>T Single submitter dilated cardiomyopathy 1CC
c.864+11A>G Single submitter dilated cardiomyopathy 1CC
c.864+231A>G Single submitter
c.864+43T>G Single submitter
c.865-12T>G Single submitter hypertrophic cardiomyopathy 20
c.-43T>A Single submitter
c.-52-4del Single submitter
c.-52-85C>A Single submitter
c.-53+36T>G Single submitter
c.*314A>C Single submitter
p.Ala107= Single submitter dilated cardiomyopathy 1CC
p.Ala161= Single submitter
p.Ala222= Single submitter hypertrophic cardiomyopathy 20
p.Ala270= Single submitter hypertrophic cardiomyopathy 20
p.Ala41= Single submitter Cardiovascular phenotype
p.Ala521= Single submitter Cardiovascular phenotype
p.Arg125= Single submitter dilated cardiomyopathy 1CC
p.Arg216Gln Single submitter Cardiovascular phenotype
p.Arg285= Single submitter hypertrophic cardiomyopathy 20
p.Arg45= Single submitter hypertrophic cardiomyopathy 20
p.Arg471= Single submitter hypertrophic cardiomyopathy 20
p.Arg498= Single submitter hypertrophic cardiomyopathy 20
p.Arg531= Single submitter
p.Arg65= Single submitter hypertrophic cardiomyopathy 20
p.Arg69= Single submitter dilated cardiomyopathy 1CC
p.Asn46= Single submitter Cardiovascular phenotype
p.Asp191= Single submitter Cardiovascular phenotype
p.Asp207= Single submitter Cardiovascular phenotype
p.Asp573= Single submitter Cardiovascular phenotype
p.Asp82= Single submitter Cardiovascular phenotype
p.Asp85Glu Single submitter Cardiovascular phenotype
p.Cys667= Single submitter
p.Gln47= Single submitter Cardiovascular phenotype
p.Glu197= Single submitter hypertrophic cardiomyopathy 20
p.Glu276Lys Single submitter hypertrophic cardiomyopathy ⚠
p.Glu323Gly Single submitter ⚠
p.Glu325= Single submitter Cardiovascular phenotype
p.Glu332= Single submitter Cardiovascular phenotype
p.Glu36= Single submitter Cardiovascular phenotype
p.Glu379= Single submitter dilated cardiomyopathy 1CC
p.Glu380= Single submitter dilated cardiomyopathy 1CC
p.Glu394= Single submitter dilated cardiomyopathy 1CC
p.Glu419= Single submitter dilated cardiomyopathy 1CC
p.Glu469= Single submitter hypertrophic cardiomyopathy 20
p.Glu533= Single submitter hypertrophic cardiomyopathy 20
p.Glu546= Single submitter dilated cardiomyopathy 1CC
p.Glu559= Single submitter Cardiovascular phenotype
p.Glu560= Single submitter Cardiovascular phenotype
p.Glu64= Single submitter Cardiovascular phenotype
p.Gly456= Single submitter dilated cardiomyopathy 1CC
p.Gly563= Single submitter dilated cardiomyopathy 1CC
p.His509= Single submitter cardiomyopathy
p.Ile467= Single submitter hypertrophic cardiomyopathy 20
p.Ile477= Single submitter Cardiovascular phenotype
p.Ile532= Single submitter dilated cardiomyopathy 1CC
p.Ile613= Single submitter Cardiovascular phenotype
p.Leu247= Single submitter Cardiovascular phenotype
p.Leu274= Single submitter Cardiovascular phenotype
p.Leu382= Single submitter dilated cardiomyopathy 1CC
p.Leu401= Single submitter hypertrophic cardiomyopathy 20
p.Leu411= Single submitter dilated cardiomyopathy 1CC
p.Leu448= Single submitter Cardiovascular phenotype
p.Leu458= Single submitter hypertrophic cardiomyopathy 20
p.Leu479= Single submitter hypertrophic cardiomyopathy 20
p.Lys187= Single submitter Cardiovascular phenotype
p.Lys263= Single submitter dilated cardiomyopathy 1CC
p.Lys272= Single submitter Cardiovascular phenotype
p.Lys300Asn Single submitter
p.Lys362= Single submitter dilated cardiomyopathy 1CC
p.Lys383= Single submitter hypertrophic cardiomyopathy 20
p.Lys400= Single submitter hypertrophic cardiomyopathy 20
p.Lys461= Single submitter hypertrophic cardiomyopathy 20
p.Lys522= Single submitter Cardiovascular phenotype
p.Lys54= Single submitter Cardiovascular phenotype
p.Lys655= Single submitter Cardiovascular phenotype
p.Met185Ile Single submitter Cardiovascular phenotype
p.Phe425Ser Single submitter Cardiovascular phenotype
p.Phe584= Single submitter hypertrophic cardiomyopathy 20
p.Pro499= Single submitter Cardiovascular phenotype
p.Pro598= Single submitter dilated cardiomyopathy 1CC
p.Pro646= Single submitter
p.Ser13= Single submitter Cardiovascular phenotype
p.Ser14= Single submitter
p.Ser15= Single submitter Cardiovascular phenotype
p.Ser168= Single submitter hypertrophic cardiomyopathy 20
p.Ser459= Single submitter dilated cardiomyopathy 1CC
p.Ser5= Single submitter hypertrophic cardiomyopathy 20
p.Ser579= Single submitter Cardiovascular phenotype
p.Ser662= Single submitter
p.Thr298Ala Single submitter Cardiovascular phenotype
p.Thr363= Single submitter dilated cardiomyopathy 1CC
p.Thr393= Single submitter dilated cardiomyopathy 1CC
p.Thr644= Single submitter hypertrophic cardiomyopathy 20
p.Thr670= Single submitter Cardiovascular phenotype
p.Tyr630= Single submitter
p.Val18= Single submitter Cardiovascular phenotype
p.Val23= Single submitter Cardiovascular phenotype
p.Val495Ile Single submitter Cardiovascular phenotype
p.Val511= Single submitter Cardiovascular phenotype
p.Val593= Single submitter hypertrophic cardiomyopathy 20
p.Val603= Single submitter

Uncertain significance 482

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

c.1252-16_1252-12delinsA Multiple submitters
c.1473+1G>T Multiple submitters dilated cardiomyopathy 1CC
c.2026_*1del Multiple submitters hypertrophic cardiomyopathy 20
c.219+5T>G Multiple submitters dilated cardiomyopathy 1CC
c.299-3T>C Multiple submitters dilated cardiomyopathy 1CC
c.448-4A>G Multiple submitters Cardiovascular phenotype
c.865-4T>C Multiple submitters cardiomyopathy
c.-10T>C Multiple submitters dilated cardiomyopathy 1CC
p.Ala266Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala343Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala476Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala486Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala500Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala500Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala523Val Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Arg127Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg141His Multiple submitters Cardiovascular phenotype ⚠
p.Arg146Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg196_Glu197del Multiple submitters dilated cardiomyopathy 1CC
p.Arg209Ile Multiple submitters Cardiovascular phenotype ⚠
p.Arg216Ter Multiple submitters dilated cardiomyopathy 1CC
p.Arg256Gln Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Arg258Gly Multiple submitters Cardiovascular phenotype
p.Arg262Gln Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Arg273Cys Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Arg273His Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Arg279His Multiple submitters Cardiovascular phenotype ⚠
p.Arg286Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg306Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg306His Multiple submitters Cardiovascular phenotype ⚠
p.Arg336del Multiple submitters Cardiovascular phenotype
p.Arg349Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg391Gln Multiple submitters ⚠
p.Arg391Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg392Gln Multiple submitters dilated cardiomyopathy ⚠
p.Arg392Pro Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Arg397Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg412Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg42Lys Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Arg471Gln Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Arg473Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg484Gln Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Arg531del Multiple submitters Cardiovascular phenotype
p.Arg539Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg555_Glu556delinsLys Multiple submitters cardiomyopathy
p.Arg578Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg57del Multiple submitters Cardiovascular phenotype
p.Arg633Lys Multiple submitters NEXN-related disorder ⚠
p.Asn261Lys Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Asn46fs Multiple submitters hypertrophic cardiomyopathy 20
p.Asp166Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp207Gly Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Asp292Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp33Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp478Asn Multiple submitters Cardiovascular phenotype
p.Asp478Glu Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Asp493Asn Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Asp494del Multiple submitters Cardiovascular phenotype
p.Asp494Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp548Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp595Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys667Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Gln131Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln215Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln215Glu Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Gln265Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln265Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln287Ter Multiple submitters Cardiovascular phenotype
p.Gln60Ter Multiple submitters dilated cardiomyopathy 1CC
p.Gln623Ter Multiple submitters Cardiovascular phenotype
p.Glu115Asp Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Glu122Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu124Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu164Gly Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu232Asp Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu268Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu277del Multiple submitters Cardiovascular phenotype
p.Glu283Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu291Lys Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu323Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu36Lys Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Glu388Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu414Asp Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Glu417Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu53Lys Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu560Lys Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu574Lys Multiple submitters cardiomyopathy ⚠
p.Glu575Gly Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu597Lys Multiple submitters Cardiovascular phenotype
p.Glu59Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu59Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu618Lys Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Glu620Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu632Gln Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Glu64Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu651Lys Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu672Gly Multiple submitters Cardiovascular phenotype
p.Glu83Lys Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Glu84Lys Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Gly29Ala Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Gly29Val Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Gly456Arg Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Gly580Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly607del Multiple submitters Cardiovascular phenotype
p.Gly661Arg Multiple submitters Cardiovascular phenotype ⚠
p.His399Asn Multiple submitters Cardiovascular phenotype ⚠
p.His490Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ile139Thr Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Ile337Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile467Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile477Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ile477Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile532Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ile547Asn Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Ile547Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile565Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile62Asn Multiple submitters NEXN-related disorder ⚠
p.Ile631Thr Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Ile671Thr Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Ile74Leu Multiple submitters ⚠
p.Leu227Ser Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Leu537fs Multiple submitters Cardiovascular phenotype
p.Lys203Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys482fs Multiple submitters Cardiovascular phenotype
p.Lys510Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys510Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys554Arg Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Lys586del Multiple submitters dilated cardiomyopathy 1CC
p.Lys674Thr Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Met1Leu Multiple submitters dilated cardiomyopathy 1CC
p.Met288Ile Multiple submitters Cardiovascular phenotype
p.Met351Val Multiple submitters Cardiovascular phenotype ⚠
p.Met415Thr Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Met653Ile Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Met653Val Multiple submitters Cardiovascular phenotype
p.Phe251Cys Multiple submitters Cardiovascular phenotype ⚠
p.Phe302Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe344Val Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Phe408Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro19Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro244Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro358Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro358Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro371Gln Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Pro371Leu Multiple submitters Cardiovascular phenotype
p.Pro371Thr Multiple submitters dilated cardiomyopathy 1CC
p.Ser357Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser503Asn Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Ser50Ala Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Ser673Arg Multiple submitters cardiomyopathy ⚠
p.Thr121Lys Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Thr363Arg Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Thr363Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr424Ile Multiple submitters dilated cardiomyopathy 1A ⚠
p.Thr508Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr602Met Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Thr666Asn Multiple submitters dilated cardiomyopathy 1CC ⚠
p.Trp583Arg Multiple submitters hypertrophic cardiomyopathy 20 ⚠
p.Tyr22Asn Multiple submitters Cardiovascular phenotype ⚠
p.Tyr305Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr630Cys Multiple submitters Cardiovascular phenotype
p.Tyr637Ter Multiple submitters hypertrophic cardiomyopathy 20
p.Tyr640fs Multiple submitters hypertrophic cardiomyopathy 20
p.Val18Ile Multiple submitters cardiomyopathy ⚠
p.Val352Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val599Gly Multiple submitters Cardiovascular phenotype ⚠
c.1216_1217insALU Single submitter Cardiovascular phenotype
c.1251+1G>A Single submitter cardiomyopathy
c.1252-5del Single submitter
c.1473+5A>G Single submitter cardiomyopathy
c.1659+2T>C Single submitter hypertrophic cardiomyopathy 20
c.1659+5C>T Single submitter dilated cardiomyopathy 1CC
c.25_27+2del Single submitter Cardiovascular phenotype
c.28-2A>G Single submitter Cardiovascular phenotype
c.299-2A>T Single submitter dilated cardiomyopathy 1CC
c.687+6T>A Single submitter hypertrophic cardiomyopathy 20
c.865-1G>A Single submitter Cardiovascular phenotype
c.-1C>T Single submitter Cardiovascular phenotype
c.-212_-210GGC[7] Single submitter
c.*418del Single submitter hypertrophic cardiomyopathy 20
p.494DV[1] Single submitter
p.Ala280Gly Single submitter Cardiovascular phenotype ⚠
p.Ala280Thr Single submitter Cardiovascular phenotype ⚠
p.Ala299Thr Single submitter Cardiovascular phenotype ⚠
p.Ala329fs Single submitter Cardiovascular phenotype
p.Ala329Ser Single submitter Cardiovascular phenotype ⚠
p.Ala472Thr Single submitter Cardiovascular phenotype ⚠
p.Ala500Glu Single submitter cardiomyopathy ⚠
p.Ala664Gly Single submitter Cardiovascular phenotype ⚠
p.Ala79Ser Single submitter Cardiovascular phenotype ⚠
p.Arg196His Single submitter Cardiovascular phenotype ⚠
p.Arg196Ser Single submitter Cardiovascular phenotype ⚠
p.Arg201Trp Single submitter Cardiovascular phenotype ⚠
p.Arg209del Single submitter Cardiovascular phenotype
p.Arg211Ser Single submitter dilated cardiomyopathy 1CC ⚠
p.Arg258Ile Single submitter Cardiovascular phenotype
p.Arg258Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Arg273fs Single submitter cardiomyopathy
p.Arg327Gly Single submitter Cardiovascular phenotype ⚠
p.Arg327Met Single submitter Cardiovascular phenotype ⚠
p.Arg335Lys Single submitter Cardiovascular phenotype ⚠
p.Arg392Leu Single submitter Cardiovascular phenotype ⚠
p.Arg397Trp Single submitter Cardiovascular phenotype ⚠
p.Arg439Lys Single submitter Cardiovascular phenotype ⚠
p.Arg45Ile Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Arg474Lys Single submitter Cardiovascular phenotype ⚠
p.Arg474Ser Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Arg48fs Single submitter Cardiovascular phenotype
p.Arg48Lys Single submitter Cardiovascular phenotype ⚠
p.Arg51= Single submitter
p.Arg516Lys Single submitter Cardiovascular phenotype ⚠
p.Arg539Leu Single submitter Cardiovascular phenotype ⚠
p.Arg545Thr Single submitter Cardiovascular phenotype ⚠
p.Arg56fs Single submitter
p.Arg633Thr Single submitter Cardiovascular phenotype ⚠
p.Arg63fs Single submitter Cardiovascular phenotype
p.Asn154Asp Single submitter dilated cardiomyopathy 1A ⚠
p.Asn261fs Single submitter Cardiovascular phenotype
p.Asn290Asp Single submitter ⚠
p.Asn350Ser Single submitter dilated cardiomyopathy 1CC ⚠
p.Asn512_Met513insAsn Single submitter hypertrophic cardiomyopathy 20
p.Asn512Ile Single submitter Cardiovascular phenotype ⚠
p.Asn512Ser Single submitter dilated cardiomyopathy 1CC ⚠
p.Asn658Ser Single submitter Cardiovascular phenotype
p.Asn659Ser Single submitter Cardiovascular phenotype ⚠
p.Asn675Ile Single submitter Cardiovascular phenotype ⚠
p.Asn68= Single submitter Cardiovascular phenotype
p.Asp191fs Single submitter
p.Asp231Gly Single submitter Cardiovascular phenotype ⚠
p.Asp297His Single submitter dilated cardiomyopathy 1CC ⚠
p.Asp355Gly Single submitter Cardiovascular phenotype ⚠
p.Asp355His Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp356His Single submitter dilated cardiomyopathy 1CC ⚠
p.Asp3Val Single submitter Cardiovascular phenotype ⚠
p.Asp478His Single submitter Cardiovascular phenotype ⚠
p.Asp494Asn Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Asp52Glu Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Asp648Gly Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Asp82Asn Single submitter dilated cardiomyopathy 1CC ⚠
p.Asp82His Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Asp85Gly Single submitter Cardiovascular phenotype ⚠
p.Cys224Tyr Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Gln112Arg Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Gln257Lys Single submitter Cardiovascular phenotype ⚠
p.Gln366Ter Single submitter
p.Gln39Arg Single submitter Cardiovascular phenotype ⚠
p.Gln406His Single submitter Cardiovascular phenotype ⚠
p.Gln410del Single submitter
p.Gln413Arg Single submitter dilated cardiomyopathy ⚠
p.Gln464Ter Single submitter Cardiovascular phenotype
p.Gln529fs Single submitter hypertrophic cardiomyopathy 20
p.Gln529Glu Single submitter Cardiovascular phenotype ⚠
p.Gln529Lys Single submitter cardiomyopathy ⚠
p.Gln535Arg Single submitter Cardiovascular phenotype
p.Gln623Glu Single submitter dilated cardiomyopathy 1CC ⚠
p.Gln629Arg Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Gln72Lys Single submitter Cardiovascular phenotype ⚠
p.Glu135Gly Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Glu159_Ser160delinsTer Single submitter Cardiovascular phenotype
p.Glu163= Single submitter cardiomyopathy, dilated, 2M
p.Glu163Gln Single submitter Cardiovascular phenotype ⚠
p.Glu195Gln Single submitter Cardiovascular phenotype ⚠
p.Glu200Gln Single submitter Cardiovascular phenotype ⚠
p.Glu234fs Single submitter Cardiovascular phenotype
p.Glu268Gln Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Glu291Asp Single submitter Cardiovascular phenotype ⚠
p.Glu316Lys Single submitter dilated cardiomyopathy 1CC ⚠
p.Glu318Gln Single submitter Cardiovascular phenotype
p.Glu330Ala Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Glu331Asp Single submitter Cardiovascular phenotype ⚠
p.Glu332Lys Single submitter Cardiovascular phenotype ⚠
p.Glu338Asp Single submitter Cardiovascular phenotype ⚠
p.Glu338Gln Single submitter dilated cardiomyopathy 1CC ⚠
p.Glu339Lys Single submitter Cardiovascular phenotype ⚠
p.Glu36Gln Single submitter
p.Glu380Val Single submitter Cardiovascular phenotype ⚠
p.Glu387Gln Single submitter Cardiovascular phenotype ⚠
p.Glu389del Single submitter Cardiovascular phenotype
p.Glu389Gln Single submitter Cardiovascular phenotype ⚠
p.Glu394fs Single submitter
p.Glu396Lys Single submitter Cardiovascular phenotype ⚠
p.Glu409Ala Single submitter hypertrophic cardiomyopathy 20 ⚠
p.Glu417Ala Single submitter Cardiovascular phenotype ⚠
p.Glu420Gln Single submitter Cardiovascular phenotype ⚠
p.Glu421Gln Single submitter Cardiovascular phenotype ⚠
p.Glu421Val Single submitter Cardiovascular phenotype ⚠
p.Glu423Lys Single submitter dilated cardiomyopathy 1CC ⚠
p.Glu433Lys Single submitter Cardiovascular phenotype ⚠
p.Glu462fs Single submitter
p.Glu462Val Single submitter Cardiovascular phenotype
p.Glu469Asp Single submitter Cardiovascular phenotype ⚠
p.Glu469Gln Single submitter dilated cardiomyopathy 1CC ⚠
p.Glu470fs Single submitter Cardiovascular phenotype
p.Glu491= Single submitter Cardiovascular phenotype
p.Glu504Lys Single submitter Cardiovascular phenotype ⚠
p.Glu527Gly Single submitter Cardiovascular phenotype ⚠
p.Glu528_Gln529delinsGlnLys Single submitter cardiomyopathy
p.Glu528_Gln529insGlu Single submitter
p.Glu556fs Single submitter hypertrophic cardiomyopathy 20
p.Glu556Gln Single submitter Cardiovascular phenotype ⚠