DTNA — 771 ClinVar variants

All ClinVar germline DTNA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 290 flagged for review →

1 Pathogenic · 30 Conflicting · 84 Benign · 21 Benign/Likely benign · 280 Likely benign · 355 Uncertain significance

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

⚑ Evidence disagreements 290

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 16

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

DTNA p.Arg521Gln Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Arg551His Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Arg589His Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Arg680Gln Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Arg703Gln Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Asn77Asp Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.His433Tyr Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Ile59Met Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Met319Val Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Pro613Leu Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Ser159Asn Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Ser485Thr Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Thr205Met Conflicting Single submitter
DTNA-related disorder
DTNA p.Thr714Ala Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Thr723Met Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Val742Phe Conflicting Single submitter
Meniere disease

Predictors lean, ClinVar uncertain 197

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 197

DTNA p.Ala118Thr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala232Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala302Thr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala407Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala430Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala486Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala495Thr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala585Thr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg29Cys Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg29His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg361Lys Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg444Gln Uncertain significance Multiple submitters
DTNA-related disorder
DTNA p.Arg456Gln Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg466Thr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg521Trp Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg566Gln Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg63Gln Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg718His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg718Leu Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg743Gln Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asn343Ser Uncertain significance Multiple submitters
DTNA-related disorder
DTNA p.Asn69Thr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asn739Ile Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asp120His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asp216Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asp216Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asp344Asn Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asp431Asn Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Gln583Arg Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Glu3Asp Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Glu564Asp Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Gly277Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.His124Arg Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.His262Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.His701Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ile596Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ile88Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Leu70Pro Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Met214Ile Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Met342Val Uncertain significance Multiple submitters
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
DTNA p.Met577Val Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Pro226Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Pro318His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Pro411Ala Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Pro603Ala Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Pro732Leu Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Thr614Met Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Thr616Met Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Thr87Ala Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Ala118Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala135Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala24Ser Uncertain significance Single submitter
DTNA p.Ala331Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala38Thr Uncertain significance Single submitter
DTNA p.Ala407Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala486Ser Uncertain significance Single submitter
DTNA p.Ala607Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala66Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala695Ser Uncertain significance Single submitter
DTNA p.Arg166Gln Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg172Trp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg230Gln Uncertain significance Single submitter
DTNA p.Arg257Gln Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg500Trp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg546Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg566Trp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg598Gly Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg605Gln Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg63Gly Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg718Cys Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg95Gln Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn424Asp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn510Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn65Ile Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn65Lys Uncertain significance Single submitter
DTNA p.Asn736Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn77Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asp146His Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asp720Asn Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asp725Asn Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asp727Glu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asp734Asn Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Cys197Phe Uncertain significance Single submitter
DTNA p.Cys197Tyr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Cys449Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln169Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln265Glu Uncertain significance Single submitter
DTNA p.Gln420Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln420His Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln482Glu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln572Arg Uncertain significance Single submitter
DTNA p.Gln618Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln629Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln91Glu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Glu122Lys Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Glu314Gly Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Glu432Ala Uncertain significance Single submitter
DTNA p.Glu452Gly Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Glu661Lys Uncertain significance Single submitter
DTNA p.Glu724Asp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly123Asp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly160Glu Uncertain significance Single submitter
DTNA p.Gly184Cys Uncertain significance Single submitter
DTNA p.Gly274Glu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly418Ala Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly586Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly667Arg Uncertain significance Single submitter
DTNA p.Gly6Ala Uncertain significance Single submitter
DTNA p.Gly706Glu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly711Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly719Asp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly770Asp Uncertain significance Single submitter
DTNA p.Gly9Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.His275Tyr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.His524Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile108Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile127Met Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile30Asn Uncertain significance Single submitter
DTNA p.Ile30Phe Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile436Met Uncertain significance Single submitter
DTNA p.Ile517Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile55Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile604Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile708Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu148Ile Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu148Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu307Pro Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu316Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu423Pro Uncertain significance Single submitter
DTNA p.Leu52Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu644Phe Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys202Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys326Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys415Gln Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys417Glu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys47Arg Uncertain significance Single submitter
DTNA p.Met145Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met162Ile Uncertain significance Single submitter
DTNA p.Met22Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met252Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met442Thr Uncertain significance Single submitter
DTNA p.Met442Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met450Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met559Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met570Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met717Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met751Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Phe119Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Phe187Cys Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Phe683Leu Uncertain significance Single submitter

Predictors split 77

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

DTNA p.Ala535Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg172Gln Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg313Cys Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg337Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg546Gln Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg605Trp Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg743Trp Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Arg80His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asn538Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Asn639Asp Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Cys197Ser Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Gln106Glu Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Gln106Leu Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Gln220His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Gln323His Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.His275Arg Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Leu111Phe Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Leu225Phe Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Leu451Pro Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Pro315Arg Uncertain significance Multiple submitters
left ventricular noncompaction 1
DTNA p.Thr531Met Likely benign Multiple submitters
left ventricular noncompaction 1
DTNA c.1002-2319T>C Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA c.1002-2324A>T Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala468Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala472Thr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ala698Val Likely benign Single submitter
left ventricular noncompaction 1
DTNA p.Arg166Gly Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg313His Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg313Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg444Trp Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Arg456Trp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg546Trp Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg551Cys Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Arg80Cys Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn343Ile Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn49Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Asn538Asp Uncertain significance Single submitter
DTNA p.Asp344Ala Uncertain significance Single submitter
DTNA p.Asp494Asn Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Gln498Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gln557His Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Glu533Gly Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Glu82Gln Uncertain significance Single submitter
DTNA p.Gly123Ser Uncertain significance Single submitter
DTNA p.Gly437Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly625Arg Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Gly626Glu Uncertain significance Single submitter
DTNA p.His100Tyr Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.His317Gln Uncertain significance Single submitter
DTNA p.Ile2Phe Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile2Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ile333Ser Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu457Phe Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu50Val Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Leu759Pro Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys298Asn Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Lys326Glu Uncertain significance Single submitter
DTNA p.Met145Ile Uncertain significance Single submitter
DTNA p.Met252Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Met655Ile Conflicting Single submitter
left ventricular noncompaction 1
DTNA p.Phe347Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Phe632Ile Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Phe632Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Pro121Leu Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Pro321Ala Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ser158Ala Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ser158Cys Uncertain significance Single submitter
DTNA p.Ser196Cys Uncertain significance Single submitter
DTNA p.Ser350Cys Uncertain significance Single submitter
DTNA p.Ser478Phe Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Ser587Cys Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Thr179Met Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Thr540Ile Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Thr654Ala Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Thr98Ile Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Val161Ala Uncertain significance Single submitter
left ventricular noncompaction 1
DTNA p.Pro336Leu Uncertain significance No assertion criteria

All DTNA variants

Pathogenic 1

p.Glu556Lys No assertion criteria myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2

Conflicting classifications of pathogenicity 30

c.1002-2320T>A Single submitter left ventricular noncompaction 1
c.1086-321A>C Single submitter
c.148+8T>C Single submitter left ventricular noncompaction 1
c.1743+2825dup Single submitter left ventricular noncompaction 1
c.68-7G>A Single submitter Left ventricular noncompaction cardiomyopathy
c.*2600C>T Single submitter left ventricular noncompaction 1
c.*2627G>A Single submitter
p.Arg444Trp Single submitter left ventricular noncompaction 1 ⚠
p.Arg521Gln Single submitter left ventricular noncompaction 1 ⚠
p.Arg551His Single submitter left ventricular noncompaction 1 ⚠
p.Arg589His Single submitter left ventricular noncompaction 1 ⚠
p.Arg680Gln Single submitter left ventricular noncompaction 1 ⚠
p.Arg703Gln Single submitter left ventricular noncompaction 1 ⚠
p.Asn77Asp Single submitter left ventricular noncompaction 1 ⚠
p.Asp494Asn Single submitter left ventricular noncompaction 1 ⚠
p.Gly141= Single submitter left ventricular noncompaction 1
p.His433Tyr Single submitter left ventricular noncompaction 1 ⚠
p.Ile59Met Single submitter left ventricular noncompaction 1 ⚠
p.Met319Val Single submitter left ventricular noncompaction 1 ⚠
p.Met655Ile Single submitter left ventricular noncompaction 1 ⚠
p.Pro613Leu Single submitter left ventricular noncompaction 1 ⚠
p.Ser159Asn Single submitter left ventricular noncompaction 1 ⚠
p.Ser422fs Single submitter left ventricular noncompaction 1
p.Ser485Thr Single submitter left ventricular noncompaction 1 ⚠
p.Ser565= Single submitter left ventricular noncompaction 1
p.Thr205Met Single submitter DTNA-related disorder ⚠
p.Thr714Ala Single submitter left ventricular noncompaction 1 ⚠
p.Thr723Met Single submitter left ventricular noncompaction 1 ⚠
p.Val334Met Single submitter left ventricular noncompaction 1
p.Val742Phe Single submitter Meniere disease ⚠

Benign 84

c.1002-132A>G Multiple submitters
c.1002-2486C>T Multiple submitters
c.1002-2609G>A Multiple submitters
c.1086-464T>C Multiple submitters
c.1175+118T>C Multiple submitters
c.1253+130G>A Multiple submitters
c.1253+51T>A Multiple submitters
c.1253+54A>G Multiple submitters
c.1254-75T>A Multiple submitters
c.149-128T>C Multiple submitters
c.1532+18T>C Multiple submitters left ventricular noncompaction 1
c.1532+225A>G Multiple submitters
c.1743+140A>G Multiple submitters
c.1743+14G>A Multiple submitters left ventricular noncompaction 1
c.1743+2271C>T Multiple submitters
c.1743+2273A>G Multiple submitters
c.1743+2409C>T Multiple submitters
c.1903+17T>C Multiple submitters left ventricular noncompaction 1
c.1903+8G>A Multiple submitters left ventricular noncompaction 1
c.2162+21A>G Multiple submitters
c.2163-137A>G Multiple submitters
c.363-102A>G Multiple submitters
c.363-58T>C Multiple submitters
c.363-82C>A Multiple submitters
c.448+72T>C Multiple submitters
c.-1-25A>G Multiple submitters
c.-127+62G>A Multiple submitters
c.*2272C>T Multiple submitters
c.*234G>A Multiple submitters
c.*2593G>A Multiple submitters
c.*2761C>T Multiple submitters
p.Asn77= Multiple submitters left ventricular noncompaction 1
p.Pro480Thr Multiple submitters systolic heart failure
p.Ser311= Multiple submitters left ventricular noncompaction 1
c.1001+31del Single submitter
c.1002-2520dup Single submitter
c.1002-2635_1002-2631del Single submitter
c.1002-2640del Single submitter
c.1002-2640dup Single submitter
c.1085+250A>G Single submitter
c.1086-336G>A Single submitter
c.148+144G>T Single submitter
c.149-181T>C Single submitter
c.149-265A>C Single submitter
c.149-285A>T Single submitter
c.1646+305C>G Single submitter
c.1743+159C>T Single submitter
c.1743+205_1743+206dup Single submitter
c.1743+206dup Single submitter
c.1904-246A>T Single submitter
c.1993+161del Single submitter
c.1994-138A>G Single submitter
c.2163-210dup Single submitter
c.2295+200C>T Single submitter
c.2295+253C>T Single submitter
c.2296-101TG[3] Single submitter
c.2296-194_2296-193del Single submitter
c.362+129A>G Single submitter
c.363-150A>G Single submitter
c.363-198A>G Single submitter
c.448+238C>A Single submitter
c.603+137G>A Single submitter
c.603+167C>T Single submitter
c.603+168A>G Single submitter
c.604-14del Single submitter left ventricular noncompaction 1
c.709+260G>A Single submitter
c.710-544C>T Single submitter
c.710-5dup Single submitter left ventricular noncompaction 1
c.876+474C>A Single submitter
c.876+747A>T Single submitter
c.877-169G>T Single submitter
c.877-239G>T Single submitter
c.-1-287A>T Single submitter
c.-126-85934C>T Single submitter
c.-126-99A>T Single submitter
c.-2+12T>C Single submitter
c.-2+231GT[11] Single submitter
c.-2+231GT[12] Single submitter
c.-2+231GT[14] Single submitter
c.-2+231GT[15] Single submitter
c.-41G>C Single submitter
c.*31+205G>C Single submitter
c.*31+205G>T Single submitter
p.Leu382= Single submitter

Benign/Likely benign 21

c.1002-2330A>G Multiple submitters left ventricular noncompaction 1
c.1002-6T>C Multiple submitters left ventricular noncompaction 1
c.1176-8T>C Multiple submitters left ventricular noncompaction 1
c.1435-19T>C Multiple submitters left ventricular noncompaction 1
c.1744-10G>A Multiple submitters left ventricular noncompaction 1
c.1744-10G>T Multiple submitters left ventricular noncompaction 1
c.1993+7T>C Multiple submitters left ventricular noncompaction 1
c.2162+14G>A Multiple submitters left ventricular noncompaction 1
c.2295+15G>A Multiple submitters left ventricular noncompaction 1
c.603+15T>C Multiple submitters left ventricular noncompaction 1
c.604-14G>T Multiple submitters left ventricular noncompaction 1
p.Ala468= Multiple submitters left ventricular noncompaction 1
p.Ala495= Multiple submitters left ventricular noncompaction 1
p.Arg31= Multiple submitters left ventricular noncompaction 1
p.Arg31Gln Multiple submitters left ventricular noncompaction 1
p.Gln17= Multiple submitters left ventricular noncompaction 1
p.Gly625= Multiple submitters left ventricular noncompaction 1
p.Ile333= Multiple submitters left ventricular noncompaction 1
p.Leu225= Multiple submitters left ventricular noncompaction 1
p.Leu70= Multiple submitters left ventricular noncompaction 1
p.Leu81= Multiple submitters left ventricular noncompaction 1

Likely benign 280

c.1002-2338C>T Multiple submitters left ventricular noncompaction 1
c.1086-472A>G Multiple submitters
c.1086-516T>A Multiple submitters
c.1435-11A>G Multiple submitters left ventricular noncompaction 1
c.1435-83C>A Multiple submitters
c.148+29A>G Multiple submitters
c.148+7A>G Multiple submitters left ventricular noncompaction 1
c.149-15C>G Multiple submitters left ventricular noncompaction 1
c.1532+16C>T Multiple submitters left ventricular noncompaction 1
c.1646+17A>T Multiple submitters left ventricular noncompaction 1
c.1646+18T>C Multiple submitters left ventricular noncompaction 1
c.1994-18T>A Multiple submitters left ventricular noncompaction 1
c.2295+10T>C Multiple submitters left ventricular noncompaction 1
c.2296-102C>G Multiple submitters
c.448+17del Multiple submitters left ventricular noncompaction 1
c.67+12T>A Multiple submitters left ventricular noncompaction 1
c.68-5A>G Multiple submitters left ventricular noncompaction 1
c.876+16G>A Multiple submitters left ventricular noncompaction 1
c.877-8C>G Multiple submitters left ventricular noncompaction 1
c.*2523A>G Multiple submitters
c.*2571C>T Multiple submitters
c.*2592C>T Multiple submitters
c.*2646T>C Multiple submitters
p.Arg42= Multiple submitters left ventricular noncompaction 1
p.Asp761= Multiple submitters left ventricular noncompaction 1
p.Glu288= Multiple submitters left ventricular noncompaction 1
p.Gly586= Multiple submitters left ventricular noncompaction 1
p.Gly719= Multiple submitters left ventricular noncompaction 1
p.His280= Multiple submitters left ventricular noncompaction 1
p.His389= Multiple submitters
p.His51= Multiple submitters left ventricular noncompaction 1
p.Ile436= Multiple submitters
p.Leu363Ser Multiple submitters left ventricular noncompaction 1
p.Leu640= Multiple submitters left ventricular noncompaction 1
p.Lys326= Multiple submitters left ventricular noncompaction 1
p.Lys497= Multiple submitters left ventricular noncompaction 1
p.Phe271= Multiple submitters left ventricular noncompaction 1
p.Pro218= Multiple submitters left ventricular noncompaction 1
p.Pro219= Multiple submitters left ventricular noncompaction 1
p.Pro240= Multiple submitters left ventricular noncompaction 1
p.Pro588= Multiple submitters left ventricular noncompaction 1
p.Ser477= Multiple submitters left ventricular noncompaction 1
p.Ser587= Multiple submitters left ventricular noncompaction 1
p.Ser590= Multiple submitters left ventricular noncompaction 1
p.Ser657= Multiple submitters left ventricular noncompaction 1
p.Thr179= Multiple submitters left ventricular noncompaction 1
p.Thr205= Multiple submitters left ventricular noncompaction 1
p.Thr531Met Multiple submitters left ventricular noncompaction 1 ⚠
p.Thr582= Multiple submitters left ventricular noncompaction 1
p.Thr616= Multiple submitters left ventricular noncompaction 1
p.Tyr383= Multiple submitters
c.1001+10C>A Single submitter left ventricular noncompaction 1
c.1001+125dup Single submitter
c.1001+12T>C Single submitter left ventricular noncompaction 1
c.1001+7A>G Single submitter left ventricular noncompaction 1
c.1002-12G>A Single submitter left ventricular noncompaction 1
c.1002-19A>G Single submitter left ventricular noncompaction 1
c.1002-2309T>C Single submitter left ventricular noncompaction 1
c.1002-2310G>C Single submitter left ventricular noncompaction 1
c.1002-2332C>A Single submitter left ventricular noncompaction 1
c.1002-2335T>C Single submitter left ventricular noncompaction 1
c.1002-2337G>A Single submitter left ventricular noncompaction 1
c.1002-2340T>G Single submitter left ventricular noncompaction 1
c.1002-2341C>A Single submitter left ventricular noncompaction 1
c.1002-2520del Single submitter
c.1002-2535A>G Single submitter
c.1002-2641_1002-2640dup Single submitter
c.1002-2642_1002-2640del Single submitter
c.1002-7_1002-3del Single submitter left ventricular noncompaction 1
c.1085+11A>G Single submitter left ventricular noncompaction 1
c.1085+19A>T Single submitter left ventricular noncompaction 1
c.1085+8C>T Single submitter
c.1085+9C>T Single submitter left ventricular noncompaction 1
c.1086-334G>A Single submitter
c.1086-353C>T Single submitter
c.1086-357C>T Single submitter
c.1175+190C>T Single submitter
c.1175+208T>G Single submitter
c.1176-10T>C Single submitter left ventricular noncompaction 1
c.1176-12C>T Single submitter left ventricular noncompaction 1
c.1176-17C>G Single submitter
c.1176-17C>T Single submitter
c.1176-254A>G Single submitter
c.1176-47C>A Single submitter
c.1253+9C>T Single submitter left ventricular noncompaction 1
c.1254-12G>T Single submitter
c.1254-9_1254-8del Single submitter left ventricular noncompaction 1
c.1254-9C>T Single submitter left ventricular noncompaction 1
c.1347-19_1347-17del Single submitter left ventricular noncompaction 1
c.1347-69del Single submitter
c.1347-6T>C Single submitter left ventricular noncompaction 1
c.1434+20G>T Single submitter left ventricular noncompaction 1
c.1434+222G>A Single submitter
c.1435-20A>G Single submitter left ventricular noncompaction 1
c.148+10C>T Single submitter left ventricular noncompaction 1
c.148+18T>C Single submitter
c.149-19A>T Single submitter
c.1532+135T>C Single submitter
c.1532+17G>A Single submitter left ventricular noncompaction 1
c.1532+18T>A Single submitter left ventricular noncompaction 1
c.1532+220G>C Single submitter
c.1532+7C>T Single submitter left ventricular noncompaction 1
c.1533-10C>G Single submitter left ventricular noncompaction 1
c.1533-6C>G Single submitter left ventricular noncompaction 1
c.1646+11G>C Single submitter left ventricular noncompaction 1
c.1646+13A>G Single submitter left ventricular noncompaction 1
c.1646+276C>T Single submitter
c.1646+283G>A Single submitter
c.1647-12C>T Single submitter
c.1647-16G>T Single submitter left ventricular noncompaction 1
c.1743+14_1743+15delinsAT Single submitter left ventricular noncompaction 1
c.1743+15A>T Single submitter
c.1743+17A>G Single submitter left ventricular noncompaction 1
c.1743+2093G>A Single submitter
c.1743+2106G>A Single submitter
c.1743+212G>A Single submitter
c.1743+2825del Single submitter
c.1743+3339C>T Single submitter
c.1743+3791A>G Single submitter
c.1743+3819G>A Single submitter
c.1743+3876T>C Single submitter
c.1743+72G>A Single submitter
c.1744-19A>G Single submitter left ventricular noncompaction 1
c.1903+11T>A Single submitter
c.1903+13A>G Single submitter left ventricular noncompaction 1
c.1903+19T>C Single submitter left ventricular noncompaction 1
c.1904-17T>C Single submitter left ventricular noncompaction 1
c.1904-230T>C Single submitter
c.1904-8C>G Single submitter left ventricular noncompaction 1
c.1993+11G>T Single submitter left ventricular noncompaction 1
c.1993+9C>T Single submitter left ventricular noncompaction 1
c.1994-11G>T Single submitter
c.1994-5G>A Single submitter left ventricular noncompaction 1
c.2162+18G>A Single submitter left ventricular noncompaction 1
c.2163-17C>T Single submitter left ventricular noncompaction 1
c.2295+10T>A Single submitter left ventricular noncompaction 1
c.2295+16C>G Single submitter left ventricular noncompaction 1
c.2295+19A>G Single submitter left ventricular noncompaction 1
c.2295+321C>T Single submitter
c.2296-11del Single submitter left ventricular noncompaction 1
c.2296-16C>A Single submitter left ventricular noncompaction 1
c.362+14del Single submitter left ventricular noncompaction 1
c.362+17T>C Single submitter left ventricular noncompaction 1
c.362+18G>A Single submitter left ventricular noncompaction 1
c.362+260T>C Single submitter
c.362+7A>G Single submitter left ventricular noncompaction 1
c.362+9C>T Single submitter left ventricular noncompaction 1
c.363-12_363-8del Single submitter left ventricular noncompaction 1
c.363-17C>A Single submitter left ventricular noncompaction 1
c.363-9A>G Single submitter left ventricular noncompaction 1
c.448+10T>G Single submitter left ventricular noncompaction 1
c.449-106A>G Single submitter
c.449-12T>C Single submitter
c.449-19T>G Single submitter left ventricular noncompaction 1
c.603+20A>G Single submitter left ventricular noncompaction 1
c.603+45G>C Single submitter left ventricular noncompaction 1
c.603+7G>C Single submitter left ventricular noncompaction 1
c.604-16G>A Single submitter left ventricular noncompaction 1
c.604-7dup Single submitter
c.67+7A>G Single submitter left ventricular noncompaction 1
c.67+8T>C Single submitter left ventricular noncompaction 1
c.68-10C>T Single submitter left ventricular noncompaction 1
c.68-20G>A Single submitter left ventricular noncompaction 1
c.68-242C>G Single submitter
c.68-6C>T Single submitter left ventricular noncompaction 1
c.68-8C>T Single submitter left ventricular noncompaction 1
c.709+13T>C Single submitter
c.709+20C>A Single submitter left ventricular noncompaction 1
c.709+20C>T Single submitter left ventricular noncompaction 1
c.709+8G>C Single submitter left ventricular noncompaction 1
c.710-11T>G Single submitter left ventricular noncompaction 1
c.710-4T>G Single submitter left ventricular noncompaction 1
c.876+11G>T Single submitter left ventricular noncompaction 1
c.876+9A>G Single submitter left ventricular noncompaction 1
c.877-16T>G Single submitter left ventricular noncompaction 1
c.877-6T>C Single submitter left ventricular noncompaction 1
c.-1-279A>G Single submitter
c.-126-85723C>T Single submitter
c.-126-85981G>C Single submitter
c.-127+12G>C Single submitter
c.-143C>A Single submitter
c.-1A>G Single submitter
c.-2+6G>T Single submitter
c.-21G>A Single submitter
c.*1001C>T Single submitter
c.*1938A>C Single submitter
c.*2619A>G Single submitter
c.*329C>T Single submitter
c.*547del Single submitter
p.Ala118= Single submitter left ventricular noncompaction 1
p.Ala276= Single submitter
p.Ala302= Single submitter left ventricular noncompaction 1
p.Ala38= Single submitter left ventricular noncompaction 1
p.Ala607= Single submitter left ventricular noncompaction 1
p.Ala647Ser Single submitter left ventricular noncompaction 1
p.Ala698= Single submitter left ventricular noncompaction 1
p.Ala698Val Single submitter left ventricular noncompaction 1 ⚠
p.Ala726= Single submitter left ventricular noncompaction 1
p.Arg16= Single submitter left ventricular noncompaction 1
p.Arg23= Single submitter left ventricular noncompaction 1
p.Arg546= Single submitter left ventricular noncompaction 1
p.Arg63= Single submitter left ventricular noncompaction 1
p.Asn236= Single submitter
p.Asn403= Single submitter left ventricular noncompaction 1
p.Asp168= Single submitter left ventricular noncompaction 1
p.Asp211= Single submitter left ventricular noncompaction 1
p.Asp26= Single submitter left ventricular noncompaction 1
p.Asp619= Single submitter left ventricular noncompaction 1
p.Asp720= Single submitter left ventricular noncompaction 1
p.Gln169= Single submitter left ventricular noncompaction 1
p.Gln220= Single submitter left ventricular noncompaction 1
p.Gln260= Single submitter left ventricular noncompaction 1
p.Gln515= Single submitter
p.Gln557= Single submitter left ventricular noncompaction 1
p.Gln760= Single submitter left ventricular noncompaction 1
p.Gly184= Single submitter left ventricular noncompaction 1
p.Gly274= Single submitter left ventricular noncompaction 1
p.Gly390= Single submitter
p.Gly416= Single submitter left ventricular noncompaction 1
p.Gly418= Single submitter
p.Gly667= Single submitter left ventricular noncompaction 1
p.Gly706= Single submitter left ventricular noncompaction 1
p.Gly770= Single submitter left ventricular noncompaction 1
p.His124= Single submitter left ventricular noncompaction 1
p.His524= Single submitter left ventricular noncompaction 1
p.His709= Single submitter left ventricular noncompaction 1
p.Ile127= Single submitter left ventricular noncompaction 1
p.Ile489= Single submitter
p.Ile493= Single submitter left ventricular noncompaction 1
p.Ile88= Single submitter left ventricular noncompaction 1
p.Leu111= Single submitter left ventricular noncompaction 1
p.Leu177= Single submitter left ventricular noncompaction 1
p.Leu18= Single submitter left ventricular noncompaction 1
p.Leu228= Single submitter left ventricular noncompaction 1
p.Leu27= Single submitter left ventricular noncompaction 1
p.Leu307= Single submitter left ventricular noncompaction 1
p.Leu32= Single submitter left ventricular noncompaction 1
p.Leu405= Single submitter left ventricular noncompaction 1
p.Leu438= Single submitter
p.Leu520= Single submitter left ventricular noncompaction 1
p.Leu522= Single submitter left ventricular noncompaction 1
p.Leu573= Single submitter left ventricular noncompaction 1
p.Leu580= Single submitter left ventricular noncompaction 1
p.Leu755= Single submitter left ventricular noncompaction 1
p.Leu76= Single submitter
p.Leu768= Single submitter left ventricular noncompaction 1
p.Leu85= Single submitter left ventricular noncompaction 1
p.Lys143= Single submitter left ventricular noncompaction 1
p.Lys417= Single submitter left ventricular noncompaction 1
p.Lys534= Single submitter left ventricular noncompaction 1
p.Lys94= Single submitter left ventricular noncompaction 1
p.Phe89= Single submitter left ventricular noncompaction 1
p.Pro327= Single submitter left ventricular noncompaction 1
p.Pro592= Single submitter left ventricular noncompaction 1
p.Pro613= Single submitter left ventricular noncompaction 1
p.Pro617= Single submitter left ventricular noncompaction 1
p.Pro728= Single submitter left ventricular noncompaction 1
p.Ser186= Single submitter left ventricular noncompaction 1
p.Ser250= Single submitter left ventricular noncompaction 1
p.Ser279= Single submitter left ventricular noncompaction 1
p.Ser368= Single submitter
p.Ser448= Single submitter left ventricular noncompaction 1
p.Ser476= Single submitter left ventricular noncompaction 1
p.Ser5= Single submitter left ventricular noncompaction 1
p.Ser656= Single submitter left ventricular noncompaction 1
p.Ser741= Single submitter
p.Thr11= Single submitter left ventricular noncompaction 1
p.Thr138= Single submitter
p.Thr190= Single submitter
p.Thr212= Single submitter left ventricular noncompaction 1
p.Thr290= Single submitter left ventricular noncompaction 1
p.Thr34= Single submitter left ventricular noncompaction 1
p.Thr531= Single submitter left ventricular noncompaction 1
p.Thr612= Single submitter left ventricular noncompaction 1
p.Thr622= Single submitter left ventricular noncompaction 1
p.Thr723= Single submitter left ventricular noncompaction 1
p.Thr87= Single submitter left ventricular noncompaction 1
p.Tyr754= Single submitter left ventricular noncompaction 1
p.Val58= Single submitter left ventricular noncompaction 1
c.*2605C>T No assertion criteria DTNA-related disorder

Uncertain significance 355

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

c.1346+5G>C Multiple submitters left ventricular noncompaction 1
c.362+1G>A Multiple submitters left ventricular noncompaction 1
c.604-13T>G Multiple submitters left ventricular noncompaction 1
p.Ala118Thr Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala232Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala302Thr Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala407Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala430Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala486Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala495Thr Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala535Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala585Thr Multiple submitters left ventricular noncompaction 1 ⚠
p.Ala61Gly Multiple submitters left ventricular noncompaction 1
p.Arg172Gln Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg29Cys Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg29His Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg313Cys Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg337Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg361Lys Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg444Gln Multiple submitters DTNA-related disorder ⚠
p.Arg456Gln Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg466Thr Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg521Trp Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg546Gln Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg566Gln Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg605Trp Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg63Gln Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg718His Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg718Leu Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg743Gln Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg743Trp Multiple submitters left ventricular noncompaction 1 ⚠
p.Arg80His Multiple submitters left ventricular noncompaction 1 ⚠
p.Asn343Ser Multiple submitters DTNA-related disorder ⚠
p.Asn538Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.Asn639Asp Multiple submitters left ventricular noncompaction 1 ⚠
p.Asn69Thr Multiple submitters left ventricular noncompaction 1 ⚠
p.Asn739Ile Multiple submitters left ventricular noncompaction 1 ⚠
p.Asp120His Multiple submitters left ventricular noncompaction 1 ⚠
p.Asp216Tyr Multiple submitters left ventricular noncompaction 1 ⚠
p.Asp216Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Asp344Asn Multiple submitters left ventricular noncompaction 1 ⚠
p.Asp431Asn Multiple submitters left ventricular noncompaction 1 ⚠
p.Cys197Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.Gln106Glu Multiple submitters left ventricular noncompaction 1 ⚠
p.Gln106Leu Multiple submitters left ventricular noncompaction 1 ⚠
p.Gln220His Multiple submitters left ventricular noncompaction 1 ⚠
p.Gln323His Multiple submitters left ventricular noncompaction 1 ⚠
p.Gln583Arg Multiple submitters left ventricular noncompaction 1 ⚠
p.Glu3Asp Multiple submitters left ventricular noncompaction 1 ⚠
p.Glu564Asp Multiple submitters left ventricular noncompaction 1 ⚠
p.Gly277Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.His124Arg Multiple submitters left ventricular noncompaction 1 ⚠
p.His262Asp Multiple submitters left ventricular noncompaction 1
p.His262Tyr Multiple submitters left ventricular noncompaction 1 ⚠
p.His275Arg Multiple submitters left ventricular noncompaction 1 ⚠
p.His701Tyr Multiple submitters left ventricular noncompaction 1 ⚠
p.Ile596Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Ile88Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Leu111Phe Multiple submitters left ventricular noncompaction 1 ⚠
p.Leu225Phe Multiple submitters left ventricular noncompaction 1 ⚠
p.Leu451Pro Multiple submitters left ventricular noncompaction 1 ⚠
p.Leu70Pro Multiple submitters left ventricular noncompaction 1 ⚠
p.Met214Ile Multiple submitters left ventricular noncompaction 1 ⚠
p.Met342Val Multiple submitters myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 ⚠
p.Met577Val Multiple submitters left ventricular noncompaction 1 ⚠
p.Pro226Ser Multiple submitters left ventricular noncompaction 1 ⚠
p.Pro315Arg Multiple submitters left ventricular noncompaction 1 ⚠
p.Pro318His Multiple submitters left ventricular noncompaction 1 ⚠
p.Pro321Leu Multiple submitters left ventricular noncompaction 1
p.Pro411Ala Multiple submitters left ventricular noncompaction 1 ⚠
p.Pro603Ala Multiple submitters left ventricular noncompaction 1 ⚠
p.Pro732Leu Multiple submitters left ventricular noncompaction 1 ⚠
p.Thr290Met Multiple submitters left ventricular noncompaction 1
p.Thr614Met Multiple submitters left ventricular noncompaction 1 ⚠
p.Thr616Met Multiple submitters left ventricular noncompaction 1 ⚠
p.Thr87Ala Multiple submitters left ventricular noncompaction 1 ⚠
p.Thr99Ala Multiple submitters left ventricular noncompaction 1
c.1002-2312T>C Single submitter left ventricular noncompaction 1
c.1002-2319T>C Single submitter left ventricular noncompaction 1 ⚠
c.1002-2324A>T Single submitter left ventricular noncompaction 1 ⚠
c.1176-1G>C Single submitter left ventricular noncompaction 1
c.1176-2A>G Single submitter left ventricular noncompaction 1
c.1176-5A>G Single submitter left ventricular noncompaction 1
c.1253+18_1253+19delinsGT Single submitter left ventricular noncompaction 1
c.1254-3C>T Single submitter left ventricular noncompaction 1
c.1347-1G>A Single submitter left ventricular noncompaction 1
c.1347-2A>T Single submitter left ventricular noncompaction 1
c.1347-6_1347-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAAAATGCAGAAAGCAGCTCCATTCCTAAAGACAAGTTTTGAGAACCTCTTCCCCAGGCAGGCTCCTAAGCATCTCGCTTTGTTCTT Single submitter left ventricular noncompaction 1
c.1435-2A>G Single submitter left ventricular noncompaction 1
c.1435-3C>T Single submitter left ventricular noncompaction 1
c.148+1G>A Single submitter left ventricular noncompaction 1
c.1532+1G>T Single submitter left ventricular noncompaction 1
c.1646+17A>G Single submitter
c.1646+4G>A Single submitter left ventricular noncompaction 1
c.1647-3T>C Single submitter left ventricular noncompaction 1
c.1743+12_1743+30del Single submitter left ventricular noncompaction 1
c.1743+2112G>C Single submitter
c.1744-11T>C Single submitter left ventricular noncompaction 1
c.1993+3G>A Single submitter left ventricular noncompaction 1
c.1993+5G>A Single submitter left ventricular noncompaction 1
c.1994-12T>C Single submitter left ventricular noncompaction 1
c.1994-20T>G Single submitter left ventricular noncompaction 1
c.1994-8del Single submitter left ventricular noncompaction 1
c.2163-1G>A Single submitter left ventricular noncompaction 1
c.2295+3A>G Single submitter
c.2295+5A>G Single submitter
c.363-3C>T Single submitter left ventricular noncompaction 1
c.603+3A>G Single submitter left ventricular noncompaction 1
c.603+3dup Single submitter left ventricular noncompaction 1
c.604-10T>C Single submitter left ventricular noncompaction 1
c.604-7T>A Single submitter left ventricular noncompaction 1
c.68-3T>A Single submitter left ventricular noncompaction 1
c.876+1G>A Single submitter
c.*2567T>C Single submitter
c.*2579C>T Single submitter
c.*2581G>A Single submitter left ventricular noncompaction 1
c.*2601del Single submitter
c.*2690T>C Single submitter
p.Ala118Val Single submitter left ventricular noncompaction 1 ⚠
p.Ala135Ser Single submitter left ventricular noncompaction 1 ⚠
p.Ala180Val Single submitter
p.Ala24Ser Single submitter ⚠
p.Ala331Thr Single submitter left ventricular noncompaction 1 ⚠
p.Ala38Thr Single submitter ⚠
p.Ala407Thr Single submitter left ventricular noncompaction 1 ⚠
p.Ala468Thr Single submitter left ventricular noncompaction 1 ⚠
p.Ala472Thr Single submitter left ventricular noncompaction 1 ⚠
p.Ala486Ser Single submitter ⚠
p.Ala495Val Single submitter left ventricular noncompaction 1
p.Ala607Val Single submitter left ventricular noncompaction 1 ⚠
p.Ala66Ser Single submitter left ventricular noncompaction 1 ⚠
p.Ala695Ser Single submitter ⚠
p.Arg166Gln Single submitter left ventricular noncompaction 1 ⚠
p.Arg166Gly Single submitter left ventricular noncompaction 1 ⚠
p.Arg166Ter Single submitter
p.Arg172Trp Single submitter left ventricular noncompaction 1 ⚠
p.Arg230Gln Single submitter ⚠
p.Arg257Gln Single submitter left ventricular noncompaction 1 ⚠
p.Arg313His Single submitter left ventricular noncompaction 1 ⚠
p.Arg313Ser Single submitter left ventricular noncompaction 1 ⚠
p.Arg456Trp Single submitter left ventricular noncompaction 1 ⚠
p.Arg500Trp Single submitter left ventricular noncompaction 1 ⚠
p.Arg546Leu Single submitter left ventricular noncompaction 1 ⚠
p.Arg546Trp Single submitter left ventricular noncompaction 1 ⚠
p.Arg551Cys Single submitter left ventricular noncompaction 1 ⚠
p.Arg566Trp Single submitter left ventricular noncompaction 1 ⚠
p.Arg598Gly Single submitter left ventricular noncompaction 1 ⚠
p.Arg605Gln Single submitter left ventricular noncompaction 1 ⚠
p.Arg638fs Single submitter left ventricular noncompaction 1
p.Arg63Gly Single submitter left ventricular noncompaction 1 ⚠
p.Arg718Cys Single submitter left ventricular noncompaction 1 ⚠
p.Arg80Cys Single submitter left ventricular noncompaction 1 ⚠
p.Arg8fs Single submitter left ventricular noncompaction 1
p.Arg95Gln Single submitter left ventricular noncompaction 1 ⚠
p.Asn343Ile Single submitter left ventricular noncompaction 1 ⚠
p.Asn424Asp Single submitter left ventricular noncompaction 1 ⚠
p.Asn49Ser Single submitter left ventricular noncompaction 1 ⚠
p.Asn510Ser Single submitter left ventricular noncompaction 1 ⚠
p.Asn538Asp Single submitter ⚠
p.Asn65Ile Single submitter left ventricular noncompaction 1 ⚠
p.Asn65Lys Single submitter ⚠
p.Asn68fs Single submitter left ventricular noncompaction 1
p.Asn736Ser Single submitter left ventricular noncompaction 1 ⚠
p.Asn77Ser Single submitter left ventricular noncompaction 1 ⚠
p.Asp146His Single submitter left ventricular noncompaction 1 ⚠
p.Asp344Ala Single submitter ⚠
p.Asp720Asn Single submitter left ventricular noncompaction 1 ⚠
p.Asp725Asn Single submitter left ventricular noncompaction 1 ⚠
p.Asp727Glu Single submitter left ventricular noncompaction 1 ⚠
p.Asp734Asn Single submitter left ventricular noncompaction 1 ⚠
p.Cys197Phe Single submitter ⚠
p.Cys197Tyr Single submitter left ventricular noncompaction 1 ⚠
p.Cys39Ter Single submitter left ventricular noncompaction 1
p.Cys449= Single submitter left ventricular noncompaction 1
p.Cys449Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gln169Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gln192Ter Single submitter
p.Gln265Glu Single submitter ⚠
p.Gln420Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gln420His Single submitter left ventricular noncompaction 1 ⚠
p.Gln482Glu Single submitter left ventricular noncompaction 1 ⚠
p.Gln498Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gln518His Single submitter
p.Gln550Arg Single submitter
p.Gln557His Single submitter left ventricular noncompaction 1 ⚠
p.Gln572Arg Single submitter ⚠
p.Gln618Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gln629Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gln731Ter Single submitter left ventricular noncompaction 1
p.Gln91Glu Single submitter left ventricular noncompaction 1 ⚠
p.Glu122Lys Single submitter left ventricular noncompaction 1 ⚠
p.Glu314Gly Single submitter left ventricular noncompaction 1 ⚠
p.Glu432Ala Single submitter ⚠
p.Glu452Gly Single submitter left ventricular noncompaction 1 ⚠
p.Glu533Gly Single submitter left ventricular noncompaction 1 ⚠
p.Glu661Lys Single submitter ⚠
p.Glu665= Single submitter left ventricular noncompaction 1
p.Glu724Asp Single submitter left ventricular noncompaction 1 ⚠
p.Glu82Gln Single submitter ⚠
p.Gly123Asp Single submitter left ventricular noncompaction 1 ⚠
p.Gly123Ser Single submitter ⚠
p.Gly160Glu Single submitter ⚠
p.Gly184Cys Single submitter ⚠
p.Gly274Glu Single submitter left ventricular noncompaction 1 ⚠
p.Gly418Ala Single submitter left ventricular noncompaction 1 ⚠
p.Gly437Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gly586Ser Single submitter left ventricular noncompaction 1 ⚠
p.Gly625Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gly626Glu Single submitter ⚠
p.Gly667Arg Single submitter ⚠
p.Gly6Ala Single submitter ⚠
p.Gly6Arg Single submitter left ventricular noncompaction 1
p.Gly706Glu Single submitter left ventricular noncompaction 1 ⚠
p.Gly711Arg Single submitter left ventricular noncompaction 1 ⚠
p.Gly719Asp Single submitter left ventricular noncompaction 1 ⚠
p.Gly770Asp Single submitter ⚠
p.Gly9Arg Single submitter left ventricular noncompaction 1 ⚠
p.His100Tyr Single submitter left ventricular noncompaction 1 ⚠
p.His275Tyr Single submitter left ventricular noncompaction 1 ⚠
p.His317Gln Single submitter ⚠
p.His524Arg Single submitter left ventricular noncompaction 1 ⚠
p.Ile108Val Single submitter left ventricular noncompaction 1 ⚠
p.Ile127Met Single submitter left ventricular noncompaction 1 ⚠
p.Ile2Phe Single submitter left ventricular noncompaction 1 ⚠
p.Ile2Val Single submitter left ventricular noncompaction 1 ⚠
p.Ile30Asn Single submitter ⚠
p.Ile30Phe Single submitter left ventricular noncompaction 1 ⚠
p.Ile333Ser Single submitter left ventricular noncompaction 1 ⚠
p.Ile436Met Single submitter ⚠
p.Ile517Lys Single submitter
p.Ile517Thr Single submitter left ventricular noncompaction 1 ⚠
p.Ile55Val Single submitter left ventricular noncompaction 1 ⚠
p.Ile604Val Single submitter left ventricular noncompaction 1 ⚠
p.Ile708Leu Single submitter left ventricular noncompaction 1 ⚠
p.Leu148Ile Single submitter left ventricular noncompaction 1 ⚠
p.Leu148Ser Single submitter left ventricular noncompaction 1 ⚠
p.Leu307_Ser311del Single submitter left ventricular noncompaction 1
p.Leu307Pro Single submitter left ventricular noncompaction 1 ⚠
p.Leu316Ser Single submitter left ventricular noncompaction 1 ⚠
p.Leu423Pro Single submitter ⚠
p.Leu457Phe Single submitter left ventricular noncompaction 1 ⚠
p.Leu50Val Single submitter left ventricular noncompaction 1 ⚠
p.Leu52Val Single submitter left ventricular noncompaction 1 ⚠
p.Leu644Phe Single submitter left ventricular noncompaction 1 ⚠
p.Leu759Pro Single submitter left ventricular noncompaction 1 ⚠
p.Lys202Arg Single submitter left ventricular noncompaction 1 ⚠
p.Lys293= Single submitter left ventricular noncompaction 1
p.Lys298Asn Single submitter left ventricular noncompaction 1 ⚠
p.Lys326Arg Single submitter left ventricular noncompaction 1 ⚠
p.Lys326Glu Single submitter ⚠
p.Lys415Gln Single submitter left ventricular noncompaction 1 ⚠
p.Lys417Glu Single submitter left ventricular noncompaction 1 ⚠
p.Lys47Arg Single submitter ⚠
p.Lys552_Arg558del Single submitter myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
p.Lys581= Single submitter left ventricular noncompaction 1
p.Met145Ile Single submitter ⚠
p.Met145Leu Single submitter left ventricular noncompaction 1 ⚠
p.Met162Ile Single submitter ⚠
p.Met22Leu Single submitter left ventricular noncompaction 1 ⚠
p.Met252Leu Single submitter left ventricular noncompaction 1 ⚠
p.Met252Val Single submitter left ventricular noncompaction 1 ⚠
p.Met442Thr Single submitter ⚠
p.Met442Val Single submitter left ventricular noncompaction 1 ⚠
p.Met450Thr Single submitter left ventricular noncompaction 1 ⚠
p.Met559Thr Single submitter left ventricular noncompaction 1 ⚠
p.Met570Val Single submitter left ventricular noncompaction 1 ⚠
p.Met717Thr Single submitter left ventricular noncompaction 1 ⚠
p.Met751Leu Single submitter left ventricular noncompaction 1 ⚠
p.Phe119Leu Single submitter left ventricular noncompaction 1 ⚠
p.Phe187Cys Single submitter left ventricular noncompaction 1 ⚠
p.Phe347Leu Single submitter left ventricular noncompaction 1 ⚠
p.Phe632Ile Single submitter left ventricular noncompaction 1 ⚠
p.Phe632Leu Single submitter left ventricular noncompaction 1 ⚠
p.Phe683Leu Single submitter ⚠
p.Phe696_Leu697insPhe Single submitter left ventricular noncompaction 1
p.Pro121Leu Single submitter left ventricular noncompaction 1 ⚠
p.Pro295Ser Single submitter left ventricular noncompaction 1 ⚠
p.Pro321Ala Single submitter left ventricular noncompaction 1 ⚠
p.Pro395Ser Single submitter left ventricular noncompaction 1 ⚠
p.Pro481His Single submitter left ventricular noncompaction 1 ⚠
p.Pro530His Single submitter left ventricular noncompaction 1
p.Pro601Thr Single submitter left ventricular noncompaction 1 ⚠
p.Pro603Leu Single submitter left ventricular noncompaction 1
p.Pro603Ser Single submitter left ventricular noncompaction 1 ⚠
p.Pro617Leu Single submitter left ventricular noncompaction 1 ⚠
p.Pro690Ser Single submitter left ventricular noncompaction 1 ⚠
p.Pro705Arg Single submitter left ventricular noncompaction 1 ⚠
p.Pro732Ala Single submitter left ventricular noncompaction 1 ⚠
p.Ser107Tyr Single submitter left ventricular noncompaction 1 ⚠
p.Ser109Gly Single submitter ⚠
p.Ser153Leu Single submitter ⚠
p.Ser158Ala Single submitter left ventricular noncompaction 1 ⚠
p.Ser158Cys Single submitter ⚠
p.Ser196Cys Single submitter ⚠
p.Ser279Thr Single submitter ⚠
p.Ser281Asn Single submitter left ventricular noncompaction 1
p.Ser291Thr Single submitter
p.Ser33Phe Single submitter left ventricular noncompaction 1 ⚠
p.Ser350Cys Single submitter ⚠
p.Ser393= Single submitter left ventricular noncompaction 1