ANKRD1 — 565 ClinVar variants
All ClinVar germline ANKRD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →
33 Conflicting · 22 Benign · 27 Benign/Likely benign · 161 Likely benign · 322 Uncertain significance
Full ANKRD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 249
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ANKRD1 p.Arg100Lys
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Arg315His
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Arg315Pro
Conflicting
Single submitter
familial hypertrophic cardiomyopathy
-
ANKRD1 p.Asp150Val
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asp86His
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gln65Lys
Conflicting
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu19Asp
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ile280Val
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu45Val
Conflicting
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Met273Thr
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro52Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ser187Phe
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Tyr274His
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 137
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ANKRD1 p.Ala259Val
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg100Ser
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg154Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg154Trp
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg195Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg195Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg250Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg269Gln
Uncertain significance
Multiple submitters
left ventricular noncompaction
-
ANKRD1 p.Asn17Asp
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Asn207Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asn297Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asp150Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asp253Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asp44Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asp44Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gln42Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gln59Glu
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu180Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Glu233Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Glu236Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Glu63Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gly18Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gly209Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gly275Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gly31Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.His158Tyr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.His224Tyr
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.His294Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Ile316Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Leu205Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Leu87His
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys61Glu
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Met184Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Pro134Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Pro288Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Ser310Phe
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Thr188Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Thr229Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Thr47Ile
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Tyr265Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Tyr274Asp
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Val10Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Val136Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Val148Ile
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Val37Ile
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala20Glu
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala226Pro
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala240Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala247Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala259Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
- ANKRD1 p.Ala317Gly Uncertain significance Single submitter
-
ANKRD1 p.Ala317Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala317Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala50Asp
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala50Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Arg159Ile
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg215Gln
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg264Gly
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg264His
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg315Leu
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Arg315Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asn198Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
- ANKRD1 p.Asn246Lys Uncertain significance Single submitter
-
ANKRD1 p.Asn309Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Asp142Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asp150Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asp216His
Uncertain significance
Single submitter
cardiomyopathy
-
ANKRD1 p.Asp30Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asp86Gly
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Cys149Phe
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Cys234Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Cys234Ser
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Cys283Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gln178Glu
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu19Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu22Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu233Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Glu242Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu251Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Glu32Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu40Gln
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu8Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gly164Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gly16Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gly18Glu
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Gly252Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gly56Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.His191Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.His191Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.His237Arg
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
- ANKRD1 p.His51Tyr Uncertain significance Single submitter
-
ANKRD1 p.Ile179Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ile190Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ile302Val
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ile91Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu129Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu140Phe
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu157Arg
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu185Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu206Pro
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu223Gln
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu238Phe
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu256Phe
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu262Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu306Phe
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu48Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu49Pro
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu55Pro
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu81Val
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
- ANKRD1 p.Lys153Ile Uncertain significance Single submitter
-
ANKRD1 p.Lys41Arg
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys5Gln
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys71Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Lys73Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Lys80Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Met267Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Met2Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro118Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro122Ser
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro146Arg
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro255Leu
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ser194Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ser79Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Thr123Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Thr221Ala
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Thr287Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Thr318Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Thr38Ile
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Trp192Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Trp192Cys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Trp60Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Tyr265Phe
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Tyr33Cys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Val10Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Val260Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Val260Met
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Val3Ala
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
Predictors split 99
The independent predictors disagree with each other — read with care.
-
ANKRD1 p.Ala156Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Ala175Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Ala175Thr
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala235Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Ala243Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg182Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg315Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg66Gly
Benign/Likely benign
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Arg78Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asn144Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Asn246Asp
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Asp120His
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Cys241Tyr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gln178His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Gln65Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Glu19Gln
Uncertain significance
Multiple submitters
dilated cardiomyopathy
-
ANKRD1 p.Glu40Lys
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ile302Thr
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu185Val
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu199Arg
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Leu271Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Lys266Glu
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys72Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Phe303Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Pro110Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Pro146Leu
Uncertain significance
Multiple submitters
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro25His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Pro52Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Thr254Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Thr287Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Tyr274Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Tyr33His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Val107Leu
Benign/Likely benign
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Val135Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
ANKRD1 p.Ala128Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala160Ser
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala175Val
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala214Asp
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
- ANKRD1 p.Ala247Thr Uncertain significance Single submitter
-
ANKRD1 p.Ala276Val
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala284Gly
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ala284Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ala68Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- ANKRD1 p.Ala68Thr Uncertain significance Single submitter
-
ANKRD1 p.Arg182His
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Arg264Cys
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Arg307Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Arg66Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asn144Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Asn279His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Asp200Gly
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Asp277His
Uncertain significance
Single submitter
Cardiovascular phenotype
- ANKRD1 p.Asp27Tyr Uncertain significance Single submitter
-
ANKRD1 p.Asp290Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu113Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Glu113Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu117Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Glu130Val
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu151Lys
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Glu170Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Glu32Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gly176Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Gly176Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ile115Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ile190Met
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ile280Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ile90Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Ile91Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
- ANKRD1 p.Leu162Trp Uncertain significance Single submitter
-
ANKRD1 p.Leu199Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Leu219Pro
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys266Asn
Uncertain significance
Single submitter
dilated cardiomyopathy
-
ANKRD1 p.Lys312Met
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys41Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- ANKRD1 p.Lys61Asn Uncertain significance Single submitter
-
ANKRD1 p.Lys64Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys72Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Lys74Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Lys80Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Met267Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Phe139Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Phe303Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro105Leu
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro105Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro110Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro110Thr
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro112Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro118Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Pro122Ala
Conflicting
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Pro52Arg
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Ser194Gly
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Thr116Met
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Thr123Met
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Thr299Asn
Uncertain significance
Single submitter
ANKRD1-related dilated cardiomyopathy
-
ANKRD1 p.Tyr232Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Tyr265Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Val106Ile
Conflicting
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Val135Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
ANKRD1 p.Val37Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
All ANKRD1 variants
Conflicting classifications of pathogenicity 33
- c.27+4T>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-11T>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.553-3T>C Single submitter Cardiovascular phenotype
- c.652-10A>T Single submitter congenital total pulmonary venous return anomaly
- c.751-4C>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.*343A>G Single submitter dilated cardiomyopathy
- p.Ala276Val Single submitter Cardiovascular phenotype ⚠
- p.Ala284Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg100Lys Single submitter Cardiovascular phenotype ⚠
- p.Arg182His Single submitter Cardiovascular phenotype ⚠
- p.Arg264Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg315His Single submitter Cardiovascular phenotype ⚠
- p.Arg315Pro Single submitter familial hypertrophic cardiomyopathy ⚠
- p.Arg66Gln Single submitter Cardiovascular phenotype ⚠
- p.Asp150Val Single submitter Cardiovascular phenotype ⚠
- p.Asp86His Single submitter Cardiovascular phenotype ⚠
- p.Gln65Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu19Asp Single submitter Cardiovascular phenotype ⚠
- p.Ile280Val Single submitter Cardiovascular phenotype ⚠
- p.Leu45Val Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Met273Thr Single submitter Cardiovascular phenotype ⚠
- p.Phe139Leu Single submitter Cardiovascular phenotype ⚠
- p.Phe303= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Phe303Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro105Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro122Ala Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro52Ser Single submitter Cardiovascular phenotype ⚠
- p.Ser187Phe Single submitter Cardiovascular phenotype ⚠
- p.Thr116Met Single submitter Cardiovascular phenotype ⚠
- p.Thr123= Single submitter Cardiovascular phenotype
- p.Thr123Met Single submitter Cardiovascular phenotype ⚠
- p.Tyr274His Single submitter Cardiovascular phenotype ⚠
- p.Val106Ile Single submitter Cardiovascular phenotype ⚠
Benign 22
- c.208-16C>T Multiple submitters congenital total pulmonary venous return anomaly
- c.345+17del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.345+17dup Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-15_346-14del Multiple submitters congenital total pulmonary venous return anomaly
- c.346-18T>C Multiple submitters
- c.346-19_346-14del Multiple submitters congenital total pulmonary venous return anomaly
- c.346-19T>A Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-27_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-36T>C Multiple submitters
- c.553-101A>G Multiple submitters
- c.651+71C>T Multiple submitters
- c.652-13del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.-145T>C Multiple submitters dilated cardiomyopathy
- c.*59A>G Multiple submitters dilated cardiomyopathy
- p.Thr116= Multiple submitters Cardiovascular phenotype
- c.207+296C>G Single submitter
- c.27+165del Single submitter
- c.27+301C>T Single submitter
- c.346-15_346-14insA Single submitter congenital total pulmonary venous return anomaly
- c.454-16dup Single submitter ANKRD1-related dilated cardiomyopathy
- c.454-271_454-261del Single submitter
- c.553-181CA[9] Single submitter
Benign/Likely benign 27
- c.208-15G>A Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-14_346-9del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-15T>A Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-17_346-10del Multiple submitters congenital total pulmonary venous return anomaly
- c.346-19_346-18del Multiple submitters cardiomyopathy
- c.346-21ATTT[2] Multiple submitters cardiomyopathy
- c.346-21ATTT[4] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-23_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-29_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-31_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-33_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-35_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-43AT[11] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-43AT[13] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-43AT[14] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-43AT[15] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-43AT[16] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-43AT[9] Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.750+17G>A Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.-17A>G Multiple submitters dilated cardiomyopathy
- c.-34C>T Multiple submitters dilated cardiomyopathy
- p.Ala36= Multiple submitters Cardiovascular phenotype
- p.Ala50= Multiple submitters Cardiovascular phenotype
- p.Ala50Pro Multiple submitters Cardiovascular phenotype
- p.Arg66Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Val107Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Val201= Multiple submitters ANKRD1-related dilated cardiomyopathy
Likely benign 161
- c.208-39G>T Multiple submitters
- c.28-6T>C Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-13_346-12dup Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-17_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-18_346-9del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.346-21_346-12del Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.553-17C>G Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.751-4C>G Multiple submitters Cardiovascular phenotype
- c.*366G>A Multiple submitters dilated cardiomyopathy
- c.*41T>G Multiple submitters dilated cardiomyopathy
- p.Ala177= Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Ala226= Multiple submitters Cardiovascular phenotype
- p.Ala35= Multiple submitters Cardiovascular phenotype
- p.Arg264= Multiple submitters Cardiovascular phenotype
- p.Asn263= Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Asp147= Multiple submitters Cardiovascular phenotype
- p.Asp150= Multiple submitters Cardiovascular phenotype
- p.Asp244= Multiple submitters Cardiovascular phenotype
- p.Cys234= Multiple submitters Cardiovascular phenotype
- p.Glu308= Multiple submitters Cardiovascular phenotype
- p.Glu34= Multiple submitters Cardiovascular phenotype
- p.Gly18= Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Ile168= Multiple submitters Cardiovascular phenotype
- p.Leu157= Multiple submitters Cardiovascular phenotype
- p.Leu166= Multiple submitters Cardiovascular phenotype
- p.Leu223= Multiple submitters Cardiovascular phenotype
- p.Leu238= Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Leu24= Multiple submitters Cardiovascular phenotype
- p.Leu245= Multiple submitters Cardiovascular phenotype
- p.Leu45= Multiple submitters Cardiovascular phenotype
- p.Leu55= Multiple submitters Cardiovascular phenotype
- p.Pro110= Multiple submitters Cardiovascular phenotype
- p.Pro288= Multiple submitters Cardiovascular phenotype
- p.Thr287= Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Thr313= Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Val106= Multiple submitters Cardiovascular phenotype
- p.Val292= Multiple submitters Cardiovascular phenotype
- p.Val53= Multiple submitters Cardiovascular phenotype
- c.207+239G>T Single submitter
- c.207+8C>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.207+8C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.208-260G>A Single submitter
- c.27+11T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.27+13C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.27+19T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.27+8A>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.27+9G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.28-11_28-9del Single submitter ANKRD1-related dilated cardiomyopathy
- c.28-9C>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.345+16T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.345+17T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.345+18G>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.345+19G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.345+20T>C Single submitter
- c.346-12_346-11insTATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATGTATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-13_346-12del Single submitter
- c.346-15T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-16_346-15insATA Single submitter congenital total pulmonary venous return anomaly
- c.346-16_346-15insTATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-16_346-15insTATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-19_346-15delinsA Single submitter
- c.346-19_346-18delinsAC Single submitter
- c.346-20_346-19insTATATATATT Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-20_346-19insTATATATT Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-20_346-19insTATATT Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-25_346-12del Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-43AT[17] Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-43AT[18] Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-6C>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+11T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+13C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+17G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+17G>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+8T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.454-157C>G Single submitter
- c.454-16A>T Single submitter
- c.454-179T>C Single submitter
- c.454-230G>A Single submitter
- c.454-6T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.454-7C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.552+10T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.552+13C>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.552+7_552+10del Single submitter ANKRD1-related dilated cardiomyopathy
- c.553-13C>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.553-4A>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.553-8C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-14T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-14T>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-18C>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-18C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-8T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.750+11G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.751-12C>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.751-8T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.849+10G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.849+11G>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.850-114T>C Single submitter
- c.850-287A>G Single submitter
- c.850-7T>G Single submitter
- c.-40del Single submitter
- c.*588A>C Single submitter dilated cardiomyopathy
- p.Ala160= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ala189= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ala20Val Single submitter Cardiovascular phenotype
- p.Ala235= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ala276= Single submitter Cardiovascular phenotype
- p.Arg96= Single submitter Cardiovascular phenotype
- p.Asn309= Single submitter Cardiovascular phenotype
- p.Asp183= Single submitter Cardiovascular phenotype
- p.Asp253= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Asp277= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Asp304Glu Single submitter Cardiovascular phenotype
- p.Asp86= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Glu109= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Glu236= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Glu7= Single submitter Cardiovascular phenotype
- p.Glu88= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Gly275= Single submitter ANKRD1-related dilated cardiomyopathy
- p.His224= Single submitter ANKRD1-related dilated cardiomyopathy
- p.His51= Single submitter Cardiovascular phenotype
- p.Ile179= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ile239= Single submitter
- p.Ile90= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu125= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu199= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu256= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu270= Single submitter Cardiovascular phenotype
- p.Leu271= Single submitter Cardiovascular phenotype
- p.Leu39= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu4= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu49= Single submitter
- p.Leu75= Single submitter Cardiovascular phenotype
- p.Lys126= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Lys171= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Pro25= Single submitter Cardiovascular phenotype
- p.Pro255= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ser213= Single submitter Cardiovascular phenotype
- p.Ser62= Single submitter Cardiovascular phenotype
- p.Thr188= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Thr299= Single submitter Cardiovascular phenotype
- p.Thr318= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Val121= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Val135= Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-10_346-9del No assertion criteria ANKRD1-related disorder
- p.Glu242= No assertion criteria ANKRD1-related disorder
Uncertain significance 322
Showing the top 300 by review status; the full set is in the sitemap.
- c.207+1G>T Multiple submitters Cardiovascular phenotype
- c.27+1G>T Multiple submitters Cardiovascular phenotype
- c.28-3T>C Multiple submitters Cardiovascular phenotype
- c.553-6_553-1dup Multiple submitters Cardiovascular phenotype
- c.651+6C>T Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.652-2A>T Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.750+2T>C Multiple submitters Cardiovascular phenotype
- c.750+4A>G Multiple submitters Cardiovascular phenotype
- c.750+5G>A Multiple submitters ANKRD1-related disorder
- c.751-3T>C Multiple submitters Cardiovascular phenotype
- c.849+1G>C Multiple submitters ANKRD1-related dilated cardiomyopathy
- c.*319A>G Multiple submitters dilated cardiomyopathy
- p.Ala156Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Ala175Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Ala175Thr Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala235Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala243Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Ala247fs Multiple submitters Cardiovascular phenotype
- p.Ala259Val Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg100Ser Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg154Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg154Trp Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg182Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg195Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg195Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Arg250Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Arg269Gln Multiple submitters left ventricular noncompaction ⚠
- p.Arg269Ter Multiple submitters cardiomyopathy
- p.Arg315Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg66Ter Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Arg78Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn144Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Asn17Asp Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Asn207Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Asn246Asp Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Asn297Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Asp120His Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Asp150Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Asp253Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp44Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp44Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Cys241Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.Gln178His Multiple submitters Cardiovascular phenotype ⚠
- p.Gln42Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gln59Glu Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Gln65del Multiple submitters Cardiovascular phenotype
- p.Gln65Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Glu113Ter Multiple submitters Cardiovascular phenotype
- p.Glu130Ter Multiple submitters cardiomyopathy
- p.Glu180Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Glu19Gln Multiple submitters dilated cardiomyopathy ⚠
- p.Glu233Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Glu236Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Glu40Lys Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu63Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly18Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly209Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly275Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly31Glu Multiple submitters Cardiovascular phenotype ⚠
- p.His158Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.His224Tyr Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.His294Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Ile302Thr Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Ile316Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Leu185Val Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu199Arg Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu205Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Leu271Met Multiple submitters Cardiovascular phenotype ⚠
- p.Leu75fs Multiple submitters Cardiovascular phenotype
- p.Leu87His Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys13_Gly31dup Multiple submitters Cardiovascular phenotype
- p.Lys266Glu Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys266Ter Multiple submitters Cardiovascular phenotype
- p.Lys61Glu Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys72Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Met184Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Phe303Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Pro110Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro134Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro146Leu Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro255fs Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Pro25His Multiple submitters Cardiovascular phenotype ⚠
- p.Pro288Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro52Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Pro52fs Multiple submitters ANKRD1-related dilated cardiomyopathy
- p.Ser310Phe Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Thr188Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Thr229Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr254Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr287Met Multiple submitters Cardiovascular phenotype ⚠
- p.Thr47Ile Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Trp60Ter Multiple submitters Cardiovascular phenotype
- p.Tyr265Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr274Asp Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Tyr274Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr311Ter Multiple submitters Cardiovascular phenotype
- p.Tyr33His Multiple submitters Cardiovascular phenotype ⚠
- p.Val10Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Val135Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Val136Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Val148Ile Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- p.Val169= Multiple submitters Cardiovascular phenotype
- p.Val37Ile Multiple submitters ANKRD1-related dilated cardiomyopathy ⚠
- c.207+5G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.207+5G>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.27+4T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.27+4T>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.28-3_28-2delinsAT Single submitter Cardiovascular phenotype
- c.345+6G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-12_346-11insTATATATATATATATATATATATATATATATATATA Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-19_346-15delinsATA Single submitter
- c.346-3T>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.346-3T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+2T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.453+6A>T Single submitter ANKRD1-related dilated cardiomyopathy
- c.454-18A>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.454-3T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.552+6T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.553-7G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.651+1G>A Single submitter ANKRD1-related dilated cardiomyopathy
- c.651+3A>G Single submitter Cardiovascular phenotype
- c.651+4T>A Single submitter Cardiovascular phenotype
- c.651+5T>C Single submitter Cardiovascular phenotype
- c.652-14_652-13delinsC Single submitter
- c.652-4_652del Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-9_661del Single submitter ANKRD1-related dilated cardiomyopathy
- c.652-9A>G Single submitter ANKRD1-related dilated cardiomyopathy
- c.750+3_750+6del Single submitter Cardiovascular phenotype
- c.849+2dup Single submitter ANKRD1-related dilated cardiomyopathy
- c.849+6T>C Single submitter ANKRD1-related dilated cardiomyopathy
- c.-102C>T Single submitter dilated cardiomyopathy
- c.-131C>G Single submitter dilated cardiomyopathy
- c.-131C>T Single submitter dilated cardiomyopathy
- c.-167C>T Single submitter dilated cardiomyopathy
- c.-79C>T Single submitter dilated cardiomyopathy
- c.*286C>T Single submitter dilated cardiomyopathy
- c.*371T>G Single submitter dilated cardiomyopathy
- c.*489G>A Single submitter dilated cardiomyopathy
- c.*570_*574dup Single submitter
- c.*571_*574dup Single submitter
- c.*607C>A Single submitter dilated cardiomyopathy
- c.*627A>G Single submitter dilated cardiomyopathy
- c.*634G>A Single submitter dilated cardiomyopathy
- c.*642G>A Single submitter dilated cardiomyopathy
- p.Ala128Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala160Ser Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala175Val Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala20Glu Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala214Asp Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala226Pro Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala240Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala247Asp Single submitter Cardiovascular phenotype ⚠
- p.Ala247Thr Single submitter ⚠
- p.Ala259Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala284Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala317Gly Single submitter ⚠
- p.Ala317Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala317Val Single submitter Cardiovascular phenotype ⚠
- p.Ala50Asp Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ala50Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala68Gly Single submitter Cardiovascular phenotype ⚠
- p.Ala68Thr Single submitter ⚠
- p.Arg100= Single submitter
- p.Arg159Ile Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg215fs Single submitter Cardiovascular phenotype
- p.Arg215Gln Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg250Ter Single submitter Cardiovascular phenotype
- p.Arg264Gly Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg264His Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg307Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg315Leu Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Arg315Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn144Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Asn198Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Asn246Lys Single submitter ⚠
- p.Asn279His Single submitter Cardiovascular phenotype ⚠
- p.Asn309Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Asp142Glu Single submitter Cardiovascular phenotype ⚠
- p.Asp150Glu Single submitter Cardiovascular phenotype ⚠
- p.Asp200Gly Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Asp216His Single submitter cardiomyopathy ⚠
- p.Asp277His Single submitter Cardiovascular phenotype ⚠
- p.Asp27Tyr Single submitter ⚠
- p.Asp290Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Asp30Tyr Single submitter Cardiovascular phenotype ⚠
- p.Asp86Gly Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Cys149Phe Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Cys234Arg Single submitter Cardiovascular phenotype ⚠
- p.Cys234Ser Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Cys283= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Cys283Gly Single submitter Cardiovascular phenotype ⚠
- p.Gln178fs Single submitter ANKRD1-related disorder
- p.Gln178Glu Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Gln58Ter Single submitter ANKRD1-related dilated cardiomyopathy
- p.Gln59Ter Single submitter Cardiovascular phenotype
- p.Glu109fs Single submitter ANKRD1-related dilated cardiomyopathy
- p.Glu113Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu113Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu117Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu130Val Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu151Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu151Ter Single submitter Cardiovascular phenotype
- p.Glu170del Single submitter ANKRD1-related dilated cardiomyopathy
- p.Glu170Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu19Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu22Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu233Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu233Ter Single submitter Cardiovascular phenotype
- p.Glu242Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu251Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu32Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu32Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu40Gln Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Glu76Ile Single submitter ANKRD1-related dilated cardiomyopathy
- p.Glu88_Ile89delinsVal Single submitter Cardiovascular phenotype
- p.Glu8Lys Single submitter Cardiovascular phenotype ⚠
- p.Gly164Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly16Val Single submitter Cardiovascular phenotype ⚠
- p.Gly176Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly176Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly18Glu Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Gly252Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly56Val Single submitter Cardiovascular phenotype ⚠
- p.His191Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.His191fs Single submitter ANKRD1-related dilated cardiomyopathy
- p.His191Gln Single submitter Cardiovascular phenotype ⚠
- p.His237Arg Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.His51Tyr Single submitter ⚠
- p.Ile115Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile179Val Single submitter Cardiovascular phenotype ⚠
- p.Ile190Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ile190Met Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ile280Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ile280del Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ile302Val Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ile90Asn Single submitter Cardiovascular phenotype ⚠
- p.Ile91Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ile91Val Single submitter Cardiovascular phenotype ⚠
- p.Leu129Val Single submitter Cardiovascular phenotype ⚠
- p.Leu140Phe Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu157Arg Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu162fs Single submitter
- p.Leu162Trp Single submitter ⚠
- p.Leu185Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu199fs Single submitter ANKRD1-related dilated cardiomyopathy
- p.Leu199Gln Single submitter Cardiovascular phenotype ⚠
- p.Leu206Pro Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu219Pro Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu223Gln Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu238Phe Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu256Phe Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu262Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu306Phe Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu39Ter Single submitter
- p.Leu48Val Single submitter Cardiovascular phenotype ⚠
- p.Leu49Pro Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu55Pro Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Leu81Val Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys143del Single submitter Cardiovascular phenotype
- p.Lys153Ile Single submitter ⚠
- p.Lys211Ter Single submitter ANKRD1-related dilated cardiomyopathy
- p.Lys266Asn Single submitter dilated cardiomyopathy ⚠
- p.Lys312Met Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys41Arg Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys41Thr Single submitter Cardiovascular phenotype ⚠
- p.Lys5= Single submitter ANKRD1-related dilated cardiomyopathy
- p.Lys5Gln Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys61Asn Single submitter ⚠
- p.Lys64Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys71Glu Single submitter Cardiovascular phenotype ⚠
- p.Lys72Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys73Glu Single submitter Cardiovascular phenotype ⚠
- p.Lys74Asn Single submitter Cardiovascular phenotype ⚠
- p.Lys80Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Lys80Glu Single submitter Cardiovascular phenotype ⚠
- p.Met1Val Single submitter ANKRD1-related dilated cardiomyopathy
- p.Met267delinsIleTer Single submitter Cardiovascular phenotype
- p.Met267Thr Single submitter Cardiovascular phenotype ⚠
- p.Met267Val Single submitter Cardiovascular phenotype ⚠
- p.Met2Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro105Leu Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro110fs Single submitter Cardiovascular phenotype
- p.Pro110Gln Single submitter Cardiovascular phenotype ⚠
- p.Pro110Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro112Arg Single submitter Cardiovascular phenotype ⚠
- p.Pro118Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro118Thr Single submitter Cardiovascular phenotype ⚠
- p.Pro122Ser Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro146Arg Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro255Leu Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Pro52Arg Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ser141Ter Single submitter ANKRD1-related dilated cardiomyopathy
- p.Ser194Arg Single submitter Cardiovascular phenotype ⚠
- p.Ser194Gly Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Ser79Thr Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Thr123Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Thr221Ala Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Thr287Lys Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Thr299Asn Single submitter ANKRD1-related dilated cardiomyopathy ⚠
- p.Thr318Ile Single submitter Cardiovascular phenotype ⚠