| NM_014000.3(VCL):c.2566G>A (p.Asp856Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000543113] |
Chr10:74108977 [GRCh38]
Chr10:75868735 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2887A>G (p.Asn963Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438428]|Dilated cardiomyopathy 1W [RCV000550360] |
Chr10:74112050 [GRCh38]
Chr10:75871808 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1713del (p.Ala573fs) |
deletion |
Dilated cardiomyopathy 1W [RCV000542650]|Primary dilated cardiomyopathy [RCV000602633] |
Chr10:74095825 [GRCh38]
Chr10:75855583 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.1917G>T (p.Lys639Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413563]|Dilated cardiomyopathy 1W [RCV000529125] |
Chr10:74100992 [GRCh38]
Chr10:75860750 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.248A>T (p.Asn83Ile) |
single nucleotide variant |
not provided [RCV000522035] |
Chr10:74070678 [GRCh38]
Chr10:75830436 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2025G>A (p.Val675=) |
single nucleotide variant |
Cardiomyopathy [RCV000030579]|Cardiovascular phenotype [RCV000242584]|Dilated cardiomyopathy 1W [RCV000232433]|not provided [RCV001529552]|not specified [RCV000038811] |
Chr10:74103822 [GRCh38]
Chr10:75863580 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.339G>A (p.Arg113=) |
single nucleotide variant |
Cardiomyopathy [RCV000030580]|Cardiovascular phenotype [RCV000251572]|Dilated cardiomyopathy 1W [RCV000473723]|Dilated cardiomyopathy 1W [RCV002490428]|not provided [RCV003114207]|not specified [RCV000038829] |
Chr10:74070769 [GRCh38]
Chr10:75830527 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.768T>C (p.Asp256=) |
single nucleotide variant |
Cardiomyopathy [RCV000030581]|Cardiovascular phenotype [RCV000247091]|Dilated cardiomyopathy 1W [RCV000468675]|Dilated cardiomyopathy 1W [RCV002482924]|not provided [RCV003114208]|not specified [RCV000038839] |
Chr10:74074888 [GRCh38]
Chr10:75834646 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| VCL, 3-BP DEL, 2862GTT |
deletion |
Dilated cardiomyopathy 1W [RCV000012979] |
Chr10:10q22.1-q23 |
pathogenic |
| NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620759]|Dilated cardiomyopathy 1W [RCV000012980]|Dilated cardiomyopathy 1W [RCV002482857]|Hypertrophic cardiomyopathy 15 [RCV000012981] |
Chr10:74112086 [GRCh38]
Chr10:75871844 [GRCh37]
Chr10:10q22.2 |
pathogenic|uncertain significance |
| NM_014000.3(VCL):c.829C>A (p.Leu277Met) |
single nucleotide variant |
Cardiomyopathy [RCV003149568]|Cardiovascular phenotype [RCV000617420]|Dilated cardiomyopathy 1W [RCV000645321]|Dilated cardiomyopathy 1W [RCV002496333]|Hypertrophic cardiomyopathy 15 [RCV000012982]|Hypertrophic cardiomyopathy [RCV000768535]|Primary familial dilated cardiomyopathy [RCV000845477]|not provided [RCV000994445]|not specified [RCV002298443] |
Chr10:74082499 [GRCh38]
Chr10:75842257 [GRCh37]
Chr10:10q22.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.787A>T (p.Thr263Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413564]|Dilated cardiomyopathy 1W [RCV000530764]|Dilated cardiomyopathy 1W [RCV002497157]|not provided [RCV001548104]|not specified [RCV000678762] |
Chr10:74082457 [GRCh38]
Chr10:75842215 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1535G>A (p.Arg512His) |
single nucleotide variant |
Cardiovascular phenotype [RCV004023557]|Dilated cardiomyopathy 1W [RCV002525154]|not provided [RCV000521454] |
Chr10:74094453 [GRCh38]
Chr10:75854211 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.565G>T (p.Val189Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350150]|Dilated cardiomyopathy 1W [RCV001298084]|Dilated cardiomyopathy 1W [RCV002506273]|not provided [RCV000522100] |
Chr10:74072795 [GRCh38]
Chr10:75832553 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1177-15C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002054717]|not provided [RCV001529149]|not specified [RCV000038790] |
Chr10:74090008 [GRCh38]
Chr10:75849766 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1237G>A (p.Ala413Thr) |
single nucleotide variant |
Cardiomyopathy [RCV003149636]|Cardiovascular phenotype [RCV000243153]|Dilated cardiomyopathy 1W [RCV000543932]|Dilated cardiomyopathy 1W [RCV002496620]|not provided [RCV000172734]|not specified [RCV000038791] |
Chr10:74090083 [GRCh38]
Chr10:75849841 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1275T>C (p.Pro425=) |
single nucleotide variant |
not specified [RCV000038792] |
Chr10:74090121 [GRCh38]
Chr10:75849879 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1317T>C (p.Ser439=) |
single nucleotide variant |
Cardiomyopathy [RCV000769108]|Cardiovascular phenotype [RCV000253399]|Dilated cardiomyopathy 1W [RCV000231042]|not provided [RCV001528563]|not specified [RCV000038793] |
Chr10:74090163 [GRCh38]
Chr10:75849921 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.1390A>C (p.Lys464Gln) |
single nucleotide variant |
not specified [RCV000038794] |
Chr10:74094308 [GRCh38]
Chr10:75854066 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1407C>T (p.Ala469=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251434]|Dilated cardiomyopathy 1W [RCV000471871]|not provided [RCV004717929]|not specified [RCV000038795] |
Chr10:74094325 [GRCh38]
Chr10:75854083 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1506G>A (p.Arg502=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243275]|Dilated cardiomyopathy 1W [RCV000460297]|not provided [RCV001723620]|not specified [RCV000038796] |
Chr10:74094424 [GRCh38]
Chr10:75854182 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1542C>T (p.Val514=) |
single nucleotide variant |
Cardiomyopathy [RCV001798122]|Dilated cardiomyopathy 1W [RCV001079631]|not provided [RCV000588077]|not specified [RCV000038797] |
Chr10:74094460 [GRCh38]
Chr10:75854218 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|uncertain significance |
| NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) |
single nucleotide variant |
Cardiomyopathy [RCV000157581]|Cardiovascular phenotype [RCV000253868]|Dilated cardiomyopathy 1W [RCV001081141]|Primary familial dilated cardiomyopathy [RCV000624752]|Ventricular tachycardia [RCV000852616]|not provided [RCV000172735]|not specified [RCV000038798] |
Chr10:74095667 [GRCh38]
Chr10:75855425 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1557C>A (p.Ile519=) |
single nucleotide variant |
Cardiomyopathy [RCV000769110]|Cardiovascular phenotype [RCV000241646]|Dilated cardiomyopathy 1W [RCV000230596]|Dilated cardiomyopathy 1W [RCV002504901]|not provided [RCV001811275]|not specified [RCV000038799] |
Chr10:74095669 [GRCh38]
Chr10:75855427 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1572C>T (p.Ala524=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390163]|Dilated cardiomyopathy 1W [RCV000547966]|Dilated cardiomyopathy 1W [RCV002496621]|VCL-related disorder [RCV003914953]|not provided [RCV001529777]|not specified [RCV000038800] |
Chr10:74095684 [GRCh38]
Chr10:75855442 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1626C>T (p.Leu542=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399381]|Dilated cardiomyopathy 1W [RCV001081580]|Dilated cardiomyopathy 1W [RCV002504902]|not provided [RCV000756898]|not specified [RCV000038801] |
Chr10:74095738 [GRCh38]
Chr10:75855496 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.1639C>T (p.Arg547Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362676]|Primary dilated cardiomyopathy [RCV004017321] |
Chr10:74095751 [GRCh38]
Chr10:75855509 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.1671C>T (p.Asp557=) |
single nucleotide variant |
Cardiomyopathy [RCV000769112]|Cardiovascular phenotype [RCV000246206]|Dilated cardiomyopathy 1W [RCV001086811]|not provided [RCV001528236]|not specified [RCV000038803] |
Chr10:74095783 [GRCh38]
Chr10:75855541 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1716T>G (p.Leu572=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246440]|Dilated cardiomyopathy 1W [RCV000459056]|VCL-related disorder [RCV003952438]|not provided [RCV001529695]|not specified [RCV000038804] |
Chr10:74095828 [GRCh38]
Chr10:75855586 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1788A>C (p.Ser596=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408521]|Dilated cardiomyopathy 1W [RCV001085095]|VCL-related disorder [RCV003934932]|not provided [RCV000590084]|not specified [RCV000038805] |
Chr10:74097248 [GRCh38]
Chr10:75857006 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1792G>A (p.Val598Ile) |
single nucleotide variant |
not specified [RCV000038806] |
Chr10:74097252 [GRCh38]
Chr10:75857010 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) |
single nucleotide variant |
Cardiomyopathy [RCV000769113]|Dilated cardiomyopathy 1W [RCV003624402]|not provided [RCV000172505]|not specified [RCV000038807] |
Chr10:74097258 [GRCh38]
Chr10:75857016 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1842G>A (p.Thr614=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408522]|Dilated cardiomyopathy 1W [RCV000645345]|not provided [RCV001529869]|not specified [RCV000038808] |
Chr10:74097302 [GRCh38]
Chr10:75857060 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.1844C>T (p.Ala615Val) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000701609]|not provided [RCV001582513]|not specified [RCV000038809] |
Chr10:74097304 [GRCh38]
Chr10:75857062 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1907A>G (p.His636Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252819]|Dilated cardiomyopathy 1W [RCV001084130]|Hypertrophic cardiomyopathy [RCV004764898]|Primary dilated cardiomyopathy [RCV001293168]|Primary familial hypertrophic cardiomyopathy [RCV000208305]|VCL-related disorder [RCV003964863]|not provided [RCV000172736]|not specified [RCV000038810] |
Chr10:74100982 [GRCh38]
Chr10:75860740 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2388G>A (p.Pro796=) |
single nucleotide variant |
Aganglionic megacolon [RCV000984707]|Cardiovascular phenotype [RCV000251660]|Dilated cardiomyopathy 1W [RCV000365455]|Hypertrophic cardiomyopathy 15 [RCV002243683]|not provided [RCV004717930]|not specified [RCV000038812] |
Chr10:74105307 [GRCh38]
Chr10:75865065 [GRCh37]
Chr10:10q22.2 |
pathogenic|benign|likely benign|uncertain significance |
| NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620621]|Dilated cardiomyopathy 1S [RCV000491755]|Dilated cardiomyopathy 1W [RCV000464811]|Dilated cardiomyopathy 1W [RCV002490530]|not provided [RCV001555951]|not specified [RCV000038813] |
Chr10:74107239 [GRCh38]
Chr10:75866997 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2746-14C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002054718]|not specified [RCV000038814] |
Chr10:74111895 [GRCh38]
Chr10:75871653 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2796T>C (p.Asp932=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433507]|Dilated cardiomyopathy 1W [RCV000549034]|not specified [RCV000038815] |
Chr10:74111959 [GRCh38]
Chr10:75871717 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.2801C>T (p.Ala934Val) |
single nucleotide variant |
Cardiomyopathy [RCV000769116]|Cardiovascular phenotype [RCV000242411]|Dilated cardiomyopathy 1W [RCV000458558]|Dilated cardiomyopathy 1W [RCV000709873]|not provided [RCV000126282]|not specified [RCV000038816] |
Chr10:74111964 [GRCh38]
Chr10:75871722 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_014000.3(VCL):c.2814C>G (p.Gly938=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243471]|Dilated cardiomyopathy 1W [RCV000988385]|Hypertrophic cardiomyopathy 15 [RCV002243684]|not provided [RCV004717931]|not specified [RCV000038817] |
Chr10:74111977 [GRCh38]
Chr10:75871735 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372608]|Dilated cardiomyopathy 1W [RCV001246144]|not provided [RCV000766998]|not specified [RCV000038818] |
Chr10:74112015 [GRCh38]
Chr10:75871773 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2862_2864del (p.Leu955del) |
deletion |
Cardiovascular phenotype [RCV000619949]|Dilated cardiomyopathy 1W [RCV000988386]|Dilated cardiomyopathy 1W [RCV003227625]|Dilated cardiomyopathy with left ventricular noncompaction [RCV000678764]|Primary dilated cardiomyopathy [RCV000171847]|not provided [RCV000727177]|not specified [RCV000038819] |
Chr10:74112024..74112026 [GRCh38]
Chr10:75871782..75871784 [GRCh37]
Chr10:75541789..75541791 [NCBI36]
Chr10:10q22.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2969C>T (p.Ala990Val) |
single nucleotide variant |
Cardiomyopathy [RCV001798123]|Cardiovascular phenotype [RCV000243207]|Dilated cardiomyopathy 1W [RCV000515262]|Dilated cardiomyopathy 1W [RCV000539097]|not provided [RCV000786265]|not specified [RCV000038820] |
Chr10:74114203 [GRCh38]
Chr10:75873961 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3066C>T (p.Ile1022=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444488]|Dilated cardiomyopathy 1W [RCV000527859]|VCL-related disorder [RCV003964864]|not provided [RCV001697032]|not specified [RCV000038821] |
Chr10:74114300 [GRCh38]
Chr10:75874058 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004017322]|Dilated cardiomyopathy 1W [RCV000803815]|Dilated cardiomyopathy 1W [RCV002504903]|not specified [RCV000038822] |
Chr10:74114326 [GRCh38]
Chr10:75874084 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.313C>T (p.Arg105Ter) |
single nucleotide variant |
Cardiomyopathy [RCV001170934]|Dilated cardiomyopathy 1W [RCV001060305]|Dilated cardiomyopathy 1W [RCV002477107]|not specified [RCV000038823] |
Chr10:74070743 [GRCh38]
Chr10:75830501 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.31A>G (p.Ser11Gly) |
single nucleotide variant |
not specified [RCV000038824] |
Chr10:73998238 [GRCh38]
Chr10:75757996 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3226C>T (p.Arg1076Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000810960]|not provided [RCV001762121]|not specified [RCV000038825] |
Chr10:74114867 [GRCh38]
Chr10:75874625 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3258+10A>T |
single nucleotide variant |
Cardiomyopathy [RCV000769119]|Dilated cardiomyopathy 1W [RCV000229791]|Primary dilated cardiomyopathy [RCV000852617]|not provided [RCV001528702]|not specified [RCV000038826] |
Chr10:74114909 [GRCh38]
Chr10:75874667 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.3327T>C (p.Ala1109=) |
single nucleotide variant |
not specified [RCV000038827] |
Chr10:74118091 [GRCh38]
Chr10:75877849 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298076]|Dilated cardiomyopathy 1W [RCV000555348]|VCL-related disorder [RCV003974891]|not specified [RCV000038828] |
Chr10:74118137 [GRCh38]
Chr10:75877895 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.366G>A (p.Leu122=) |
single nucleotide variant |
Cardiomyopathy [RCV001798124]|Cardiovascular phenotype [RCV002453318]|Dilated cardiomyopathy 1W [RCV001079225]|not provided [RCV000457126]|not specified [RCV000038830] |
Chr10:74070796 [GRCh38]
Chr10:75830554 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.378C>T (p.Phe126=) |
single nucleotide variant |
Cardiomyopathy [RCV001170935]|Cardiovascular phenotype [RCV002354198]|Dilated cardiomyopathy 1W [RCV000645334]|not provided [RCV001703888]|not specified [RCV000038831] |
Chr10:74070808 [GRCh38]
Chr10:75830566 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.500-5C>G |
single nucleotide variant |
not specified [RCV000038832] |
Chr10:74072725 [GRCh38]
Chr10:75832483 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.562C>T (p.Arg188Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345301]|Dilated cardiomyopathy 1W [RCV000645310]|Primary dilated cardiomyopathy [RCV000038833]|not provided [RCV000183988] |
Chr10:74072792 [GRCh38]
Chr10:75832550 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.565G>C (p.Val189Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001220678]|not specified [RCV000038834] |
Chr10:74072795 [GRCh38]
Chr10:75832553 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.590C>T (p.Thr197Ile) |
single nucleotide variant |
Cardiomyopathy [RCV000852615]|Cardiovascular phenotype [RCV000252580]|Dilated cardiomyopathy 1W [RCV001084501]|VCL-related disorder [RCV003952439]|not provided [RCV000154123]|not specified [RCV000038835] |
Chr10:74072820 [GRCh38]
Chr10:75832578 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.660C>T (p.Asn220=) |
single nucleotide variant |
Cardiomyopathy [RCV003486568]|Cardiovascular phenotype [RCV000620177]|Dilated cardiomyopathy 1W [RCV000233302]|not provided [RCV001699110]|not specified [RCV000038837] |
Chr10:74074780 [GRCh38]
Chr10:75834538 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.688C>T (p.Arg230Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004018880]|Dilated cardiomyopathy 1W [RCV000227145]|Dilated cardiomyopathy 1W [RCV002483001]|not provided [RCV000172497]|not specified [RCV000038838] |
Chr10:74074808 [GRCh38]
Chr10:75834566 [GRCh37]
Chr10:75504572 [NCBI36]
Chr10:10q22.2 |
uncertain significance|not provided |
| NM_014000.3(VCL):c.854G>A (p.Arg285His) |
single nucleotide variant |
Cardiovascular phenotype [RCV004678599]|Dilated cardiomyopathy 1W [RCV001059935]|not provided [RCV004691729]|not specified [RCV000038840] |
Chr10:74082524 [GRCh38]
Chr10:75842282 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.945C>A (p.Gly315=) |
single nucleotide variant |
Cardiomyopathy [RCV000770296]|Cardiovascular phenotype [RCV000249265]|Dilated cardiomyopathy 1W [RCV000475462]|not provided [RCV004706474]|not specified [RCV000038841] |
Chr10:74083436 [GRCh38]
Chr10:75843194 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.952C>T (p.Arg318Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372609]|Dilated cardiomyopathy 1W [RCV000472922]|Dilated cardiomyopathy 1W [RCV002483002]|not specified [RCV000038842] |
Chr10:74083443 [GRCh38]
Chr10:75843201 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 |
copy number loss |
See cases [RCV000052530] |
Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2 |
pathogenic |
| GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 |
copy number loss |
See cases [RCV000052531] |
Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2 |
pathogenic |
| GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 |
copy number loss |
See cases [RCV000052511] |
Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2 |
pathogenic |
| NM_014000.2(VCL):c.168+12546G>C |
single nucleotide variant |
Lung cancer [RCV000109332] |
Chr10:74010921 [GRCh38]
Chr10:75770679 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.2(VCL):c.240-8047C>T |
single nucleotide variant |
Lung cancer [RCV000109333] |
Chr10:74062623 [GRCh38]
Chr10:75822381 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_003373.4(VCL):c.659dup (p.Asn220fs) |
duplication |
Cardiovascular phenotype [RCV004018879]|Dilated cardiomyopathy 1W [RCV001852813]|Primary dilated cardiomyopathy [RCV000038836] |
Chr10:74074773..74074774 [GRCh38]
Chr10:75834531..75834532 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.1309G>A (p.Glu437Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003624438]|Hypertrophic cardiomyopathy [RCV000999587] |
Chr10:74090155 [GRCh38]
Chr10:75849913 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.581C>T (p.Ser194Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357195]|Dilated cardiomyopathy 1W [RCV001348143] |
Chr10:74072811 [GRCh38]
Chr10:75832569 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2434+19T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002055634]|Dilated cardiomyopathy 1W [RCV002492473]|not provided [RCV003736594]|not specified [RCV000126280] |
Chr10:74105372 [GRCh38]
Chr10:75865130 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.2799G>A (p.Ala933=) |
single nucleotide variant |
Cardiomyopathy [RCV001171117]|Cardiovascular phenotype [RCV004019718]|Dilated cardiomyopathy 1W [RCV000470598]|not specified [RCV000126281] |
Chr10:74111962 [GRCh38]
Chr10:75871720 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.3333T>C (p.Ala1111=) |
single nucleotide variant |
Cardiomyopathy [RCV001171118]|Cardiovascular phenotype [RCV000243882]|Dilated cardiomyopathy 1W [RCV000466465]|VCL-related disorder [RCV003915258]|not specified [RCV000126285] |
Chr10:74118097 [GRCh38]
Chr10:75877855 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.1290C>T (p.Asp430=) |
single nucleotide variant |
Cardiomyopathy [RCV001171113]|Cardiovascular phenotype [RCV000619271]|Dilated cardiomyopathy 1W [RCV000475572]|not specified [RCV000156750] |
Chr10:74090136 [GRCh38]
Chr10:75849894 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1353-19G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002055635]|Dilated cardiomyopathy 1W [RCV002498614]|not provided [RCV001727588]|not specified [RCV000126294] |
Chr10:74094252 [GRCh38]
Chr10:75854010 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.2924G>A (p.Arg975Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020044]|Dilated cardiomyopathy 1W [RCV000526504]|Dilated cardiomyopathy 1W [RCV002505233]|not provided [RCV004692778]|not specified [RCV000171177] |
Chr10:74112087 [GRCh38]
Chr10:75871845 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|likely benign|uncertain significance |
| NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) |
single nucleotide variant |
Hypertrophic cardiomyopathy 15 [RCV000201438] |
Chr10:74094449 [GRCh38]
Chr10:75854207 [GRCh37]
Chr10:10q22.2 |
likely pathogenic |
| NC_000010.11:g.73998025C>T |
single nucleotide variant |
not provided [RCV001572295] |
Chr10:73998025 [GRCh38]
Chr10:75757783 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.625A>G (p.Met209Val) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001303193]|Dilated cardiomyopathy 1W [RCV002486170]|not provided [RCV004692452] |
Chr10:74074745 [GRCh38]
Chr10:75834503 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.404T>C (p.Ile135Thr) |
single nucleotide variant |
Cardiomyopathy [RCV000770292]|Cardiovascular phenotype [RCV000620510]|Dilated cardiomyopathy 1W [RCV001087335]|VCL-related disorder [RCV003965236]|not provided [RCV000172496] |
Chr10:74070988 [GRCh38]
Chr10:75830746 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.695T>A (p.Phe232Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000686012]|not provided [RCV000172498] |
Chr10:74074815 [GRCh38]
Chr10:75834573 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) |
single nucleotide variant |
Cardiomyopathy [RCV001171112]|Cardiovascular phenotype [RCV002354442]|Dilated cardiomyopathy 1W [RCV001088622]|Primary dilated cardiomyopathy [RCV001293124]|VCL-related disorder [RCV003975249]|not provided [RCV000172499]|not specified [RCV000183993] |
Chr10:74089330 [GRCh38]
Chr10:75849088 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1192C>T (p.Pro398Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336414]|Dilated cardiomyopathy 1W [RCV000763670]|Dilated cardiomyopathy 1W [RCV001078898]|not provided [RCV000172500] |
Chr10:74090038 [GRCh38]
Chr10:75849796 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000795188]|VCL-related disorder [RCV003398885]|not provided [RCV000172502]|not specified [RCV002298502] |
Chr10:74090071 [GRCh38]
Chr10:75849829 [GRCh37]
Chr10:10q22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1607C>A (p.Pro536His) |
single nucleotide variant |
Cardiovascular phenotype [RCV004678624]|Dilated cardiomyopathy 1W [RCV001089302]|not provided [RCV000172504] |
Chr10:74095719 [GRCh38]
Chr10:75855477 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2521G>C (p.Asp841His) |
single nucleotide variant |
Cardiomyopathy [RCV001798619]|Cardiovascular phenotype [RCV000244937]|Dilated cardiomyopathy 1W [RCV001082235]|not provided [RCV000172506]|not specified [RCV000183982] |
Chr10:74107316 [GRCh38]
Chr10:75867074 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621970]|Dilated cardiomyopathy 1W [RCV001852097]|Dilated cardiomyopathy 1W [RCV002492727]|not provided [RCV000172507] |
Chr10:74112056 [GRCh38]
Chr10:75871814 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) |
single nucleotide variant |
Cardiomyopathy [RCV000769117]|Cardiovascular phenotype [RCV000244628]|Dilated cardiomyopathy 1W [RCV001079184]|Primary familial dilated cardiomyopathy [RCV000845310]|not provided [RCV000172737] |
Chr10:74111990 [GRCh38]
Chr10:75871748 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3 |
pathogenic |
| NM_014000.3(VCL):c.2453T>A (p.Leu818Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444699]|Dilated cardiomyopathy 1W [RCV001852143]|not provided [RCV000175201] |
Chr10:74107248 [GRCh38]
Chr10:75867006 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 |
copy number loss |
See cases [RCV000136658] |
Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2 |
pathogenic|likely benign |
| GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2 |
pathogenic |
| NM_014000.3(VCL):c.2652G>A (p.Glu884=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453615]|Dilated cardiomyopathy 1W [RCV001464791]|not provided [RCV000175332] |
Chr10:74109063 [GRCh38]
Chr10:75868821 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.610G>C (p.Val204Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003512017]|not provided [RCV000788187]|not specified [RCV000155758] |
Chr10:74072840 [GRCh38]
Chr10:75832598 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1337C>G (p.Ala446Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001062242]|not specified [RCV000155943] |
Chr10:74090183 [GRCh38]
Chr10:75849941 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.120C>T (p.Leu40=) |
single nucleotide variant |
Cardiomyopathy [RCV000770290]|Cardiovascular phenotype [RCV002354354]|Dilated cardiomyopathy 1W [RCV000229250]|not provided [RCV001727602]|not specified [RCV000152639] |
Chr10:73998327 [GRCh38]
Chr10:75758085 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.622+4C>T |
single nucleotide variant |
Cardiomyopathy [RCV003486686]|Cardiovascular phenotype [RCV000621833]|Dilated cardiomyopathy 1W [RCV000469624]|not provided [RCV001701772]|not specified [RCV000152642] |
Chr10:74072856 [GRCh38]
Chr10:75832614 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.874+7C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001430019]|not specified [RCV000152643] |
Chr10:74082551 [GRCh38]
Chr10:75842309 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1198G>T (p.Gly400Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345484]|Dilated cardiomyopathy 1W [RCV001053034]|not provided [RCV000172501] |
Chr10:74090044 [GRCh38]
Chr10:75849802 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1544-2A>G |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000152646] |
Chr10:74095654 [GRCh38]
Chr10:75855412 [GRCh37]
Chr10:10q22.2 |
likely pathogenic |
| NM_014000.3(VCL):c.1888G>A (p.Ala630Thr) |
single nucleotide variant |
Cardiomyopathy [RCV001798490]|Dilated cardiomyopathy 1W [RCV001857524]|not specified [RCV000152647] |
Chr10:74100963 [GRCh38]
Chr10:75860721 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) |
single nucleotide variant |
Cardiomyopathy [RCV000769114]|Cardiovascular phenotype [RCV000253826]|Dilated cardiomyopathy 1W [RCV000645322]|Dilated cardiomyopathy 1W [RCV002478441]|Hypertrophic cardiomyopathy [RCV000497573]|Primary dilated cardiomyopathy [RCV003993832]|not provided [RCV001576732]|not specified [RCV000152648] |
Chr10:74103843 [GRCh38]
Chr10:75863601 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.2672G>C (p.Gly891Ala) |
single nucleotide variant |
not specified [RCV000152650] |
Chr10:74109083 [GRCh38]
Chr10:75868841 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2841C>T (p.Asp947=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001408582]|not specified [RCV000152652] |
Chr10:74112004 [GRCh38]
Chr10:75871762 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter) |
single nucleotide variant |
not specified [RCV000152653] |
Chr10:74114349 [GRCh38]
Chr10:75874107 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.3236T>C (p.Ile1079Thr) |
single nucleotide variant |
not specified [RCV000152654] |
Chr10:74114877 [GRCh38]
Chr10:75874635 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1973T>C (p.Val658Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415675]|Dilated cardiomyopathy 1W [RCV001470512]|Primary dilated cardiomyopathy [RCV001293164]|not provided [RCV001559741]|not specified [RCV000156401] |
Chr10:74101048 [GRCh38]
Chr10:75860806 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000154540] |
Chr10:74097222 [GRCh38]
Chr10:75856980 [GRCh37]
Chr10:10q22.2 |
likely pathogenic |
| NM_014000.3(VCL):c.3163C>T (p.Arg1055Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004019883]|Dilated cardiomyopathy 1W [RCV003764977]|not provided [RCV000766495]|not specified [RCV000156630] |
Chr10:74114804 [GRCh38]
Chr10:75874562 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.649A>G (p.Asn217Asp) |
single nucleotide variant |
not specified [RCV000156713] |
Chr10:74074769 [GRCh38]
Chr10:75834527 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390369]|Dilated cardiomyopathy 1W [RCV001481749]|Hypertrophic cardiomyopathy [RCV001293104]|not specified [RCV000156752] |
Chr10:74095687 [GRCh38]
Chr10:75855445 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|uncertain significance |
| NM_014000.3(VCL):c.808T>C (p.Leu270=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004019888]|Dilated cardiomyopathy 1W [RCV000645333]|not specified [RCV000156891] |
Chr10:74082478 [GRCh38]
Chr10:75842236 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.1348A>C (p.Arg450=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381496]|Dilated cardiomyopathy 1W [RCV000233914]|Dilated cardiomyopathy 1W [RCV002498747]|not provided [RCV001668311]|not specified [RCV000155022] |
Chr10:74090194 [GRCh38]
Chr10:75849952 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.492T>G (p.Leu164=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243984]|Dilated cardiomyopathy 1W [RCV000229322]|VCL-related disorder [RCV003927474]|not provided [RCV001529639]|not specified [RCV000152641] |
Chr10:74071076 [GRCh38]
Chr10:75830834 [GRCh37]
Chr10:10q22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1294C>G (p.Leu432Val) |
single nucleotide variant |
Cardiomyopathy [RCV002272142]|Cardiovascular phenotype [RCV002381483]|Dilated cardiomyopathy 1W [RCV000474898]|not provided [RCV000172503]|not specified [RCV000152645] |
Chr10:74090140 [GRCh38]
Chr10:75849898 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2388= (p.Pro796=) |
single nucleotide variant |
not specified [RCV000152649] |
Chr10:74105307 [GRCh38]
Chr10:75865065 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2814= (p.Gly938=) |
single nucleotide variant |
not specified [RCV000152651] |
Chr10:74111977 [GRCh38]
Chr10:75871735 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2050A>G (p.Arg684Gly) |
single nucleotide variant |
Ventricular fibrillation, paroxysmal familial, type 1 [RCV000157582] |
Chr10:74103847 [GRCh38]
Chr10:75863605 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2023-20A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002056961]|not provided [RCV001723756]|not specified [RCV000183972] |
Chr10:74103800 [GRCh38]
Chr10:75863558 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.81C>T (p.His27=) |
single nucleotide variant |
Cardiomyopathy [RCV001798642]|Cardiovascular phenotype [RCV000620992]|Dilated cardiomyopathy 1W [RCV000229991]|not provided [RCV001701550]|not specified [RCV000183973] |
Chr10:73998288 [GRCh38]
Chr10:75758046 [GRCh37]
Chr10:10q22.2 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014000.3(VCL):c.2000C>T (p.Thr667Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165411]|Dilated cardiomyopathy 1W [RCV000546287]|not provided [RCV000183978] |
Chr10:74101075 [GRCh38]
Chr10:75860833 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2428G>A (p.Asp810Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002516940]|not provided [RCV000183979] |
Chr10:74105347 [GRCh38]
Chr10:75865105 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2435-1G>A |
single nucleotide variant |
not provided [RCV000183980] |
Chr10:74107229 [GRCh38]
Chr10:75866987 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) |
single nucleotide variant |
Cardiomyopathy [RCV003486742]|Cardiovascular phenotype [RCV002453669]|Dilated cardiomyopathy 1W [RCV001044351]|not provided [RCV001529152]|not specified [RCV004800321] |
Chr10:74107262 [GRCh38]
Chr10:75867020 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3091C>T (p.Arg1031Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001226175] |
Chr10:74114325 [GRCh38]
Chr10:75874083 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415791]|Dilated cardiomyopathy 1W [RCV000815842]|not provided [RCV000183986] |
Chr10:74043138 [GRCh38]
Chr10:75802896 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.50C>A (p.Ala17Glu) |
single nucleotide variant |
not provided [RCV000183987] |
Chr10:73998257 [GRCh38]
Chr10:75758015 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.676G>A (p.Ala226Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362946]|Dilated cardiomyopathy 1W [RCV003624408]|not provided [RCV000183990] |
Chr10:74074796 [GRCh38]
Chr10:75834554 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.737G>A (p.Arg246His) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020241]|Dilated cardiomyopathy 1W [RCV000558037] |
Chr10:74074857 [GRCh38]
Chr10:75834615 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1015C>T (p.Arg339Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326997]|Dilated cardiomyopathy 1W [RCV000810313]|not provided [RCV000183992] |
Chr10:74083506 [GRCh38]
Chr10:75843264 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1238C>T (p.Ala413Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362947]|Dilated cardiomyopathy 1W [RCV001233861]|not provided [RCV000183995] |
Chr10:74090084 [GRCh38]
Chr10:75849842 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1292T>G (p.Ile431Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381612]|Dilated cardiomyopathy 1W [RCV001220406]|not provided [RCV000505719]|not specified [RCV003323434] |
Chr10:74090138 [GRCh38]
Chr10:75849896 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1298G>A (p.Arg433His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381613]|Dilated cardiomyopathy 1W [RCV000804406]|Dilated cardiomyopathy 1W [RCV002492832]|not provided [RCV000183997] |
Chr10:74090144 [GRCh38]
Chr10:75849902 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1403C>T (p.Thr468Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390474]|Dilated cardiomyopathy 1W [RCV000533986]|not provided [RCV000183998]|not specified [RCV001290533] |
Chr10:74094321 [GRCh38]
Chr10:75854079 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|likely benign|uncertain significance |
| NM_014000.3(VCL):c.1583G>A (p.Arg528His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399684]|Dilated cardiomyopathy 1W [RCV000802649]|Dilated cardiomyopathy 1W [RCV002503722]|not provided [RCV000183999] |
Chr10:74095695 [GRCh38]
Chr10:75855453 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1708C>T (p.Arg570Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000530068]|not provided [RCV000184000] |
Chr10:74095820 [GRCh38]
Chr10:75855578 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.1819A>C (p.Lys607Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000803197]|Dilated cardiomyopathy 1W [RCV002500553]|not provided [RCV000184002] |
Chr10:74097279 [GRCh38]
Chr10:75857037 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) |
deletion |
Cardiovascular phenotype [RCV002433821]|Dilated cardiomyopathy 1W [RCV000537723]|Hypertrophic cardiomyopathy 15 [RCV000501801]|Primary dilated cardiomyopathy [RCV000219138]|not provided [RCV000184003] |
Chr10:74111991..74111992 [GRCh38]
Chr10:75871749..75871750 [GRCh37]
Chr10:10q22.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.292G>A (p.Asp98Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433822]|not provided [RCV000184005] |
Chr10:74070722 [GRCh38]
Chr10:75830480 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.736C>T (p.Arg246Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002517819]|not provided [RCV000184006] |
Chr10:74074856 [GRCh38]
Chr10:75834614 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.565G>A (p.Val189Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347816]|Dilated cardiomyopathy 1W [RCV001853319]|Long QT syndrome [RCV000208407] |
Chr10:74072795 [GRCh38]
Chr10:75832553 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444838]|Dilated cardiomyopathy 1W [RCV000645320]|Dilated cardiomyopathy 1W [RCV002485364]|Primary familial hypertrophic cardiomyopathy [RCV000208526]|VCL-related disorder [RCV003947683]|not provided [RCV000994451]|not specified [RCV003987451] |
Chr10:74107263 [GRCh38]
Chr10:75867021 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1559G>A (p.Arg520Gln) |
single nucleotide variant |
Cardiac arrest [RCV000991075]|Dilated cardiomyopathy 1W [RCV000695502]|not provided [RCV003480555]|not specified [RCV000208082] |
Chr10:74095671 [GRCh38]
Chr10:75855429 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1017T>C (p.Arg339=) |
single nucleotide variant |
not specified [RCV000215286] |
Chr10:74083508 [GRCh38]
Chr10:75843266 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.622+4C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002365163]|Dilated cardiomyopathy 1W [RCV000545486]|not provided [RCV001557305]|not specified [RCV000219947] |
Chr10:74072856 [GRCh38]
Chr10:75832614 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.874+9C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001403030]|not specified [RCV000215822] |
Chr10:74082553 [GRCh38]
Chr10:75842311 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.163G>T (p.Val55Phe) |
single nucleotide variant |
Cardiomyopathy [RCV003150116]|Dilated cardiomyopathy 1W [RCV001344101]|Primary familial dilated cardiomyopathy [RCV000622645]|not specified [RCV000218318] |
Chr10:73998370 [GRCh38]
Chr10:75758128 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.390+11T>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003512025]|not specified [RCV000222941] |
Chr10:74070831 [GRCh38]
Chr10:75830589 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1543+15G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002519621]|not specified [RCV000221365] |
Chr10:74094476 [GRCh38]
Chr10:75854234 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_003373.4(VCL):c.670dup (p.Glu224fs) |
duplication |
Primary dilated cardiomyopathy [RCV000221392] |
Chr10:74074789..74074790 [GRCh38]
Chr10:75834547..75834548 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.2853del (p.Glu952fs) |
deletion |
Dilated cardiomyopathy 1W [RCV000231976] |
Chr10:74112016 [GRCh38]
Chr10:75871774 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.424T>C (p.Leu142=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001471856]|not provided [RCV000231503]|not specified [RCV001699263] |
Chr10:74071008 [GRCh38]
Chr10:75830766 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1308G>A (p.Gly436=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000227080] |
Chr10:74090154 [GRCh38]
Chr10:75849912 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1767G>A (p.Glu589=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003352807]|Dilated cardiomyopathy 1W [RCV001408139] |
Chr10:74097227 [GRCh38]
Chr10:75856985 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1223T>C (p.Ile408Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251883]|Dilated cardiomyopathy 1W [RCV000233241] |
Chr10:74090069 [GRCh38]
Chr10:75849827 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.45G>A (p.Pro15=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338751]|Dilated Cardiomyopathy, Dominant [RCV000354701]|Dilated cardiomyopathy 1W [RCV001484155] |
Chr10:73998252 [GRCh38]
Chr10:75758010 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.2472C>G (p.Ile824Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444911]|Dilated cardiomyopathy 1W [RCV000234166]|not provided [RCV001722257] |
Chr10:74107267 [GRCh38]
Chr10:75867025 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.1115G>A (p.Arg372His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165642]|Dilated cardiomyopathy 1W [RCV000227537] |
Chr10:74089288 [GRCh38]
Chr10:75849046 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.2905G>A (p.Ala969Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001855882]|Dilated cardiomyopathy 1W [RCV002485960]|not provided [RCV000756900] |
Chr10:74112068 [GRCh38]
Chr10:75871826 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2275C>A (p.Arg759=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278949]|Dilated cardiomyopathy 1W [RCV000823213]|not specified [RCV000603927] |
Chr10:74105194 [GRCh38]
Chr10:75864952 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1621C>G (p.Leu541Val) |
single nucleotide variant |
Cardiomyopathy [RCV000769111]|Cardiovascular phenotype [RCV000246145]|Dilated cardiomyopathy 1W [RCV000645327]|Dilated cardiomyopathy 1W [RCV002500940]|Primary familial dilated cardiomyopathy [RCV000845476]|not provided [RCV001589296]|not specified [RCV001000876] |
Chr10:74095733 [GRCh38]
Chr10:75855491 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1382C>G (p.Ala461Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248702]|Dilated cardiomyopathy 1W [RCV001857854] |
Chr10:74094300 [GRCh38]
Chr10:75854058 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2875A>C (p.Asn959His) |
single nucleotide variant |
Cardiomyopathy [RCV003150145]|Cardiovascular phenotype [RCV000244158]|Dilated cardiomyopathy 1W [RCV000472333]|not specified [RCV000825048] |
Chr10:74112038 [GRCh38]
Chr10:75871796 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1856C>A (p.Ala619Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251751]|Dilated cardiomyopathy 1W [RCV002518723] |
Chr10:74097316 [GRCh38]
Chr10:75857074 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.731T>A (p.Ile244Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242063] |
Chr10:74074851 [GRCh38]
Chr10:75834609 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2276G>A (p.Arg759Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000530467]|not provided [RCV001703199] |
Chr10:74105195 [GRCh38]
Chr10:75864953 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2091C>A (p.Thr697=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002058242]|not specified [RCV000252337] |
Chr10:74103888 [GRCh38]
Chr10:75863646 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.528C>T (p.Asp176=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350309]|Dilated cardiomyopathy 1W [RCV000552161]|not provided [RCV001703200]|not specified [RCV001700208] |
Chr10:74072758 [GRCh38]
Chr10:75832516 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.2418A>G (p.Gly806=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252899]|Dilated cardiomyopathy 1W [RCV001422098] |
Chr10:74105337 [GRCh38]
Chr10:75865095 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.*1891G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000267144] |
Chr10:74120060 [GRCh38]
Chr10:75879818 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1659C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000344151]|Dilated cardiomyopathy 1W [RCV002494942]|not provided [RCV004692930] |
Chr10:74119828 [GRCh38]
Chr10:75879586 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*698C>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000368665] |
Chr10:74118867 [GRCh38]
Chr10:75878625 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*148A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000393788]|not provided [RCV004692928] |
Chr10:74118317 [GRCh38]
Chr10:75878075 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1853A>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000302360]|Dilated cardiomyopathy 1W [RCV002502196] |
Chr10:74120022 [GRCh38]
Chr10:75879780 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.*292G>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000346781]|not provided [RCV001556162] |
Chr10:74118461 [GRCh38]
Chr10:75878219 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2802C>T (p.Ala934=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436140]|Dilated cardiomyopathy 1W [RCV000645340]|not provided [RCV001311711] |
Chr10:74111965 [GRCh38]
Chr10:75871723 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.*1584T>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000286784]|not provided [RCV004718310] |
Chr10:74119753 [GRCh38]
Chr10:75879511 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.789T>C (p.Thr263=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618586]|Dilated cardiomyopathy 1W [RCV000325396]|VCL-related disorder [RCV004745328]|not specified [RCV000603068] |
Chr10:74082459 [GRCh38]
Chr10:75842217 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.*1282C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000375326]|Dilated cardiomyopathy 1W [RCV002494940] |
Chr10:74119451 [GRCh38]
Chr10:75879209 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1379G>A (p.Arg460Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165816]|Dilated cardiomyopathy 1W [RCV000350761] |
Chr10:74094297 [GRCh38]
Chr10:75854055 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3186G>A (p.Gln1062=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165818]|Dilated cardiomyopathy 1W [RCV000866789] |
Chr10:74114827 [GRCh38]
Chr10:75874585 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.*212C>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000308348]|Dilated cardiomyopathy 1W [RCV002494939] |
Chr10:74118381 [GRCh38]
Chr10:75878139 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1040C>T (p.Pro347Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392836]|Dilated cardiomyopathy 1W [RCV000477789]|Dilated cardiomyopathy 1W [RCV000544872]|not provided [RCV002261040] |
Chr10:74089213 [GRCh38]
Chr10:75848971 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*990_*991dup |
duplication |
Dilated Cardiomyopathy, Dominant [RCV000353492] |
Chr10:74119157..74119158 [GRCh38]
Chr10:75878915..75878916 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2427C>T (p.Ser809=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621865]|Dilated cardiomyopathy 1W [RCV000466939] |
Chr10:74105346 [GRCh38]
Chr10:75865104 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2006G>A (p.Arg669Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165817]|Dilated cardiomyopathy 1W [RCV000704837]|Dilated cardiomyopathy 1W [RCV002467726]|Long QT syndrome [RCV003318374]|not provided [RCV001548587] |
Chr10:74101081 [GRCh38]
Chr10:75860839 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2746-8C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000467400]|not specified [RCV000435228] |
Chr10:74111901 [GRCh38]
Chr10:75871659 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.*652T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000311744] |
Chr10:74118821 [GRCh38]
Chr10:75878579 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1823G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000312158]|not provided [RCV004718311] |
Chr10:74119992 [GRCh38]
Chr10:75879750 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.*1849_*1850insC |
insertion |
Dilated Cardiomyopathy, Dominant [RCV000405162]|not provided [RCV004692932] |
Chr10:74120018..74120019 [GRCh38]
Chr10:75879776..75879777 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1613G>A (p.Arg538Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000358277]|not provided [RCV004794385] |
Chr10:74095725 [GRCh38]
Chr10:75855483 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.378C>A (p.Phe126Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000359201] |
Chr10:74070808 [GRCh38]
Chr10:75830566 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1854A>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000359486]|Dilated cardiomyopathy 1W [RCV002502197]|not provided [RCV004705180] |
Chr10:74120023 [GRCh38]
Chr10:75879781 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1287T>A (p.Asp429Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379170]|Dilated cardiomyopathy 1W [RCV000645323]|Dilated cardiomyopathy 1W [RCV002502194]|not provided [RCV002253381] |
Chr10:74090133 [GRCh38]
Chr10:75849891 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.592G>A (p.Val198Met) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000458822]|Dilated cardiomyopathy 1W [RCV002487339]|not provided [RCV001699434] |
Chr10:74072822 [GRCh38]
Chr10:75832580 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1861_*1862dup |
duplication |
Dilated Cardiomyopathy, Dominant [RCV000297222]|not provided [RCV004692931] |
Chr10:74120011..74120012 [GRCh38]
Chr10:75879769..75879770 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*864C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000315050] |
Chr10:74119033 [GRCh38]
Chr10:75878791 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1285C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000264325]|Dilated cardiomyopathy 1W [RCV002494941]|not provided [RCV004692929] |
Chr10:74119454 [GRCh38]
Chr10:75879212 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2807C>T (p.Ala936Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436141]|Dilated cardiomyopathy 1W [RCV000697268]|Dilated cardiomyopathy 1W [RCV002502195]|not provided [RCV003137912] |
Chr10:74111970 [GRCh38]
Chr10:75871728 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1203A>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000318645]|not provided [RCV004705179] |
Chr10:74119372 [GRCh38]
Chr10:75879130 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.*1143A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000261068] |
Chr10:74119312 [GRCh38]
Chr10:75879070 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1860_*1862dup |
duplication |
Dilated Cardiomyopathy, Dominant [RCV000354390] |
Chr10:74120011..74120012 [GRCh38]
Chr10:75879769..75879770 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*709del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000276509] |
Chr10:74118878 [GRCh38]
Chr10:75878636 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1998G>T (p.Lys666Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000269369]|not provided [RCV001509390] |
Chr10:74101073 [GRCh38]
Chr10:75860831 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3 |
pathogenic |
| NC_000010.11:g.73998048G>A |
single nucleotide variant |
not provided [RCV001548003] |
Chr10:73998048 [GRCh38]
Chr10:75757806 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1814C>G (p.Pro605Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302855]|Dilated cardiomyopathy 1W [RCV000555254]|Dilated cardiomyopathy 1W [RCV003227787] |
Chr10:74097274 [GRCh38]
Chr10:75857032 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2237C>A (p.Pro746His) |
single nucleotide variant |
not provided [RCV000488120] |
Chr10:74105156 [GRCh38]
Chr10:75864914 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1940C>T (p.Ala647Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413417]|Dilated cardiomyopathy 1W [RCV001853678]|Dilated cardiomyopathy 1W [RCV002476071]|not provided [RCV000523002] |
Chr10:74101015 [GRCh38]
Chr10:75860773 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3008G>A (p.Arg1003Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003766742]|not provided [RCV000488968] |
Chr10:74114242 [GRCh38]
Chr10:75874000 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.-62T>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000313945] |
Chr10:73998146 [GRCh38]
Chr10:75757904 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1708A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000347112] |
Chr10:74119877 [GRCh38]
Chr10:75879635 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1918C>T (p.Leu640Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV004021483]|Dilated cardiomyopathy 1W [RCV000363937] |
Chr10:74100993 [GRCh38]
Chr10:75860751 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1665_*1669dup |
duplication |
Dilated Cardiomyopathy, Dominant [RCV000382286] |
Chr10:74119831..74119832 [GRCh38]
Chr10:75879589..75879590 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.901C>T (p.Gln301Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000384233] |
Chr10:74083392 [GRCh38]
Chr10:75843150 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*353CT[1] |
microsatellite |
Dilated Cardiomyopathy, Dominant [RCV000404556] |
Chr10:74118522..74118523 [GRCh38]
Chr10:75878280..75878281 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.155G>C (p.Ser52Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004021482]|Dilated cardiomyopathy 1W [RCV000405243] |
Chr10:73998362 [GRCh38]
Chr10:75758120 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1534C>T (p.Arg512Cys) |
single nucleotide variant |
Cardiomyopathy [RCV001798891]|Cardiovascular phenotype [RCV000620528]|Dilated cardiomyopathy 1W [RCV000551156]|not specified [RCV004017674] |
Chr10:74094452 [GRCh38]
Chr10:75854210 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.*1841_*1842insA |
insertion |
Dilated Cardiomyopathy, Dominant [RCV000350689] |
Chr10:74120010..74120011 [GRCh38]
Chr10:75879768..75879769 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2978G>T (p.Arg993Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000551716] |
Chr10:74114212 [GRCh38]
Chr10:75873970 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1403C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000321723] |
Chr10:74119572 [GRCh38]
Chr10:75879330 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1543+8C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000527286] |
Chr10:74094469 [GRCh38]
Chr10:75854227 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.*1761A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000393011]|Dilated cardiomyopathy 1W [RCV002487340] |
Chr10:74119930 [GRCh38]
Chr10:75879688 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1841_*1842insAA |
insertion |
Dilated Cardiomyopathy, Dominant [RCV000393033] |
Chr10:74120010..74120011 [GRCh38]
Chr10:75879768..75879769 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*145del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000341401] |
Chr10:74118312 [GRCh38]
Chr10:75878070 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1705AAGA[3] |
microsatellite |
Dilated Cardiomyopathy, Dominant [RCV000290303] |
Chr10:74119872..74119873 [GRCh38]
Chr10:75879630..75879631 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*1540A>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000378650] |
Chr10:74119709 [GRCh38]
Chr10:75879467 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1319C>T (p.Ala440Val) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000549834] |
Chr10:74090165 [GRCh38]
Chr10:75849923 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.166C>T (p.Arg56Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000553908] |
Chr10:73998373 [GRCh38]
Chr10:75758131 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.238A>C (p.Lys80Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456291]|Dilated cardiomyopathy 1W [RCV002491171]|Dilated cardiomyopathy 1W [RCV003767340]|not provided [RCV000588537] |
Chr10:74043152 [GRCh38]
Chr10:75802910 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.168+9G>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002062133]|not provided [RCV001729650]|not specified [RCV000602642] |
Chr10:73998384 [GRCh38]
Chr10:75758142 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1176+13A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001860349]|not specified [RCV000602684] |
Chr10:74089362 [GRCh38]
Chr10:75849120 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2539C>T (p.Pro847Ser) |
single nucleotide variant |
not provided [RCV000523890] |
Chr10:74107334 [GRCh38]
Chr10:75867092 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3019G>C (p.Gly1007Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001312714]|not provided [RCV000587019] |
Chr10:74114253 [GRCh38]
Chr10:75874011 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1268A>G (p.Asp423Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004024069]|Dilated cardiomyopathy 1W [RCV000556455] |
Chr10:74090114 [GRCh38]
Chr10:75849872 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2005C>T (p.Arg669Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003105891]|not specified [RCV000414701] |
Chr10:74101080 [GRCh38]
Chr10:75860838 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1544-6G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000539897] |
Chr10:74095650 [GRCh38]
Chr10:75855408 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.458C>T (p.Thr153Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000539544]|Dilated cardiomyopathy 1W [RCV003224327] |
Chr10:74071042 [GRCh38]
Chr10:75830800 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1105A>G (p.Asn369Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003771955]|not provided [RCV001760486] |
Chr10:74089278 [GRCh38]
Chr10:75849036 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1 |
copy number loss |
See cases [RCV000447510] |
Chr10:75542067..79428995 [GRCh37]
Chr10:10q22.2-22.3 |
pathogenic |
| NM_014000.3(VCL):c.1563G>C (p.Gly521=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168667]|Dilated cardiomyopathy 1W [RCV002521783]|not specified [RCV000420762] |
Chr10:74095675 [GRCh38]
Chr10:75855433 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2256G>C (p.Gly752=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446709]|Dilated cardiomyopathy 1W [RCV003512043]|not specified [RCV000421003] |
Chr10:74105175 [GRCh38]
Chr10:75864933 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2435-10T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003766469]|not specified [RCV000427720] |
Chr10:74107220 [GRCh38]
Chr10:75866978 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.169-18T>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002525373]|not specified [RCV000431520] |
Chr10:74043065 [GRCh38]
Chr10:75802823 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.168+20C>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002062596]|not specified [RCV000431778] |
Chr10:73998395 [GRCh38]
Chr10:75758153 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1652T>C (p.Leu551Pro) |
single nucleotide variant |
not provided [RCV000438463] |
Chr10:74095764 [GRCh38]
Chr10:75855522 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2069C>A (p.Ala690Asp) |
single nucleotide variant |
not provided [RCV000424477] |
Chr10:74103866 [GRCh38]
Chr10:75863624 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.239+11G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002061568]|Dilated cardiomyopathy 1W [RCV002502487]|not specified [RCV000435119] |
Chr10:74043164 [GRCh38]
Chr10:75802922 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.-13G>A |
single nucleotide variant |
not specified [RCV000428648] |
Chr10:73998195 [GRCh38]
Chr10:75757953 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1092A>G (p.Thr364=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001392559]|not specified [RCV000428676] |
Chr10:74089265 [GRCh38]
Chr10:75849023 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.582G>A (p.Ser194=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356602]|Dilated cardiomyopathy 1W [RCV001425578]|not specified [RCV000439345] |
Chr10:74072812 [GRCh38]
Chr10:75832570 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3259-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002446723]|Dilated cardiomyopathy 1W [RCV000869161]|not specified [RCV000422120] |
Chr10:74118018 [GRCh38]
Chr10:75877776 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1074G>A (p.Gln358=) |
single nucleotide variant |
not specified [RCV000429207] |
Chr10:74089247 [GRCh38]
Chr10:75849005 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.780C>T (p.Ser260=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411366]|Dilated cardiomyopathy 1W [RCV000685148]|not specified [RCV000429276] |
Chr10:74074900 [GRCh38]
Chr10:75834658 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.2769G>A (p.Val923=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003352857]|Dilated cardiomyopathy 1W [RCV002062483]|not specified [RCV000443348] |
Chr10:74111932 [GRCh38]
Chr10:75871690 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3154-8C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002521663]|not specified [RCV000432920] |
Chr10:74114787 [GRCh38]
Chr10:75874545 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1176+20G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002061594]|not specified [RCV000422539] |
Chr10:74089369 [GRCh38]
Chr10:75849127 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.3381T>C (p.Val1127=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450967]|Dilated cardiomyopathy 1W [RCV001394844]|Dilated cardiomyopathy 1W [RCV002502488]|VCL-related disorder [RCV003942335]|not specified [RCV000440194] |
Chr10:74118145 [GRCh38]
Chr10:75877903 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1744-1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001851093]|Dilated cardiomyopathy 1W [RCV002488984]|not provided [RCV000426336] |
Chr10:74097203 [GRCh38]
Chr10:75856961 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1177-14G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001105564]|not provided [RCV001528785]|not specified [RCV000436860] |
Chr10:74090009 [GRCh38]
Chr10:75849767 [GRCh37]
Chr10:10q22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014000.3(VCL):c.2748G>A (p.Pro916=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004022333]|Dilated cardiomyopathy 1W [RCV000560212]|not specified [RCV000426627] |
Chr10:74111911 [GRCh38]
Chr10:75871669 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.261G>A (p.Lys87=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429436]|not specified [RCV000423156] |
Chr10:74070691 [GRCh38]
Chr10:75830449 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1872+12A>G |
single nucleotide variant |
not specified [RCV000437334] |
Chr10:74097344 [GRCh38]
Chr10:75857102 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1177-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002328926]|Dilated cardiomyopathy 1W [RCV000557401]|not provided [RCV001703516] |
Chr10:74090018 [GRCh38]
Chr10:75849776 [GRCh37]
Chr10:10q22.2 |
likely benign |
| GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_014000.3(VCL):c.2967A>G (p.Ala989=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004022960]|Dilated cardiomyopathy 1W [RCV001468356] |
Chr10:74114201 [GRCh38]
Chr10:75873959 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2022+5G>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000460924]|Dilated cardiomyopathy 1W [RCV002480407] |
Chr10:74101102 [GRCh38]
Chr10:75860860 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1247G>A (p.Arg416Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393127]|Dilated cardiomyopathy 1W [RCV000470634]|not provided [RCV001753889] |
Chr10:74090093 [GRCh38]
Chr10:75849851 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1715T>C (p.Leu572Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000456205] |
Chr10:74095827 [GRCh38]
Chr10:75855585 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1195A>C (p.Asn399His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339158]|Dilated cardiomyopathy 1W [RCV000463998]|Dilated cardiomyopathy 1W [RCV002480406]|not provided [RCV000786266] |
Chr10:74090041 [GRCh38]
Chr10:75849799 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1868A>C (p.Glu623Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000460415] |
Chr10:74097328 [GRCh38]
Chr10:75857086 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.158A>G (p.Asn53Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402374]|Dilated cardiomyopathy 1W [RCV000477949]|Dilated cardiomyopathy 1W [RCV001236153] |
Chr10:73998365 [GRCh38]
Chr10:75758123 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser) |
indel |
Cardiovascular phenotype [RCV004678713]|Dilated cardiomyopathy 1W [RCV000457027]|Dilated cardiomyopathy 1W [RCV002480405]|not provided [RCV000786268]|not specified [RCV003479125] |
Chr10:74111986..74111987 [GRCh38]
Chr10:75871744..75871745 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.185T>C (p.Val62Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003352873]|Dilated cardiomyopathy 1W [RCV000460522]|not specified [RCV000614341] |
Chr10:74043099 [GRCh38]
Chr10:75802857 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.519G>A (p.Lys173=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001404103] |
Chr10:74072749 [GRCh38]
Chr10:75832507 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.390+4G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000471895] |
Chr10:74070824 [GRCh38]
Chr10:75830582 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1346G>A (p.Arg449Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004678723]|Dilated cardiomyopathy 1W [RCV001064521]|not provided [RCV000481865] |
Chr10:74090192 [GRCh38]
Chr10:75849950 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1031G>C (p.Gly344Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000468809]|Dilated cardiomyopathy 1W [RCV002489050]|not provided [RCV002286737] |
Chr10:74089204 [GRCh38]
Chr10:75848962 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2649A>C (p.Glu883Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004022707]|Dilated cardiomyopathy 1W [RCV000476338]|Dilated cardiomyopathy 1W [RCV002489051]|VCL-related disorder [RCV004745402] |
Chr10:74109060 [GRCh38]
Chr10:75868818 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1511T>C (p.Ile504Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168808]|Dilated cardiomyopathy 1W [RCV000476364]|Dilated cardiomyopathy 1W [RCV002480404]|not provided [RCV001591090] |
Chr10:74094429 [GRCh38]
Chr10:75854187 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.169-7C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000457817]|not provided [RCV001558434] |
Chr10:74043076 [GRCh38]
Chr10:75802834 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2368T>C (p.Leu790=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004022961]|Dilated cardiomyopathy 1W [RCV001464343] |
Chr10:74105287 [GRCh38]
Chr10:75865045 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2365G>A (p.Glu789Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451107]|Dilated cardiomyopathy 1W [RCV000465443]|not provided [RCV000498277] |
Chr10:74105284 [GRCh38]
Chr10:75865042 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2142C>T (p.Asp714=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431358]|Dilated cardiomyopathy 1W [RCV001088312]|VCL-related disorder [RCV003960082]|not provided [RCV000465519]|not specified [RCV000599879] |
Chr10:74105061 [GRCh38]
Chr10:75864819 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.2866A>G (p.Met956Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436429]|Dilated cardiomyopathy 1W [RCV000465742]|Dilated cardiomyopathy 1W [RCV002489052] |
Chr10:74112029 [GRCh38]
Chr10:75871787 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.113C>T (p.Pro38Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000462199] |
Chr10:73998320 [GRCh38]
Chr10:75758078 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1229G>A (p.Gly410Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004023203]|Dilated cardiomyopathy 1W [RCV001214536]|not provided [RCV000478502] |
Chr10:74090075 [GRCh38]
Chr10:75849833 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3339A>C (p.Ser1113=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000462211] |
Chr10:74118103 [GRCh38]
Chr10:75877861 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1865G>A (p.Arg622Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000462273]|Dilated cardiomyopathy 1W [RCV002496768] |
Chr10:74097325 [GRCh38]
Chr10:75857083 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1947G>A (p.Ala649=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411547]|Dilated cardiomyopathy 1W [RCV001410798] |
Chr10:74101022 [GRCh38]
Chr10:75860780 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2528C>T (p.Pro843Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001236366]|Dilated cardiomyopathy 1W [RCV002506181]|not provided [RCV000483232] |
Chr10:74107323 [GRCh38]
Chr10:75867081 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2267T>C (p.Ile756Thr) |
single nucleotide variant |
not provided [RCV000498883] |
Chr10:74105186 [GRCh38]
Chr10:75864944 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.220A>G (p.Met74Val) |
single nucleotide variant |
Hypertrophic cardiomyopathy [RCV000498510] |
Chr10:74043134 [GRCh38]
Chr10:75802892 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2050A>T (p.Arg684Trp) |
single nucleotide variant |
not provided [RCV000498381] |
Chr10:74103847 [GRCh38]
Chr10:75863605 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3 |
copy number gain |
See cases [RCV000511191] |
Chr10:75179409..76009153 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1206G>A (p.Pro402=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350308]|Dilated cardiomyopathy 1W [RCV000538144]|not provided [RCV001697305] |
Chr10:74090052 [GRCh38]
Chr10:75849810 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2159A>T (p.Lys720Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617253] |
Chr10:74105078 [GRCh38]
Chr10:75864836 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2531C>T (p.Pro844Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303044]|Dilated cardiomyopathy 1W [RCV000645314]|Dilated cardiomyopathy 1W [RCV002493025]|Primary dilated cardiomyopathy [RCV003994062]|not provided [RCV002261153] |
Chr10:74107326 [GRCh38]
Chr10:75867084 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2173G>A (p.Ala725Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645315] |
Chr10:74105092 [GRCh38]
Chr10:75864850 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2875A>G (p.Asn959Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645319] |
Chr10:74112038 [GRCh38]
Chr10:75871796 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2950-6C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645335] |
Chr10:74114178 [GRCh38]
Chr10:75873936 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3258+4T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645336] |
Chr10:74114903 [GRCh38]
Chr10:75874661 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2560C>T (p.Leu854=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362875]|Dilated cardiomyopathy 1W [RCV001413101]|VCL-related disorder [RCV003928097] |
Chr10:74108971 [GRCh38]
Chr10:75868729 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1932C>T (p.Ala644=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406409]|Dilated cardiomyopathy 1W [RCV000645338] |
Chr10:74101007 [GRCh38]
Chr10:75860765 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.169-10C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645343] |
Chr10:74043073 [GRCh38]
Chr10:75802831 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.804A>G (p.Arg268=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002060754] |
Chr10:74082474 [GRCh38]
Chr10:75842232 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.625A>T (p.Met209Leu) |
single nucleotide variant |
Cardiomyopathy [RCV000770294]|Dilated cardiomyopathy 1W [RCV000577945]|Hypertrophic cardiomyopathy 15 [RCV000577975]|not specified [RCV003235297] |
Chr10:74074745 [GRCh38]
Chr10:75834503 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1352+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002384173]|Dilated cardiomyopathy 1W [RCV000557812]|not provided [RCV001770448] |
Chr10:74090203 [GRCh38]
Chr10:75849961 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1928C>T (p.Thr643Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413656]|Dilated cardiomyopathy 1W [RCV000818461]|Dilated cardiomyopathy 1W [RCV002506387]|Wolff-Parkinson-White pattern [RCV000656206]|not provided [RCV000756899] |
Chr10:74101003 [GRCh38]
Chr10:75860761 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2387del (p.Pro796fs) |
deletion |
Dilated cardiomyopathy 1W [RCV000645309]|not provided [RCV001509391] |
Chr10:74105303 [GRCh38]
Chr10:75865061 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2769G>C (p.Val923=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000536390] |
Chr10:74111932 [GRCh38]
Chr10:75871690 [GRCh37]
Chr10:10q22.2 |
likely benign |
| GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3 |
drug response |
| NM_014000.3(VCL):c.868T>A (p.Ser290Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301980] |
Chr10:74082538 [GRCh38]
Chr10:75842296 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2577T>C (p.Ala859=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301981] |
Chr10:74108988 [GRCh38]
Chr10:75868746 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.550C>T (p.His184Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004024589]|Dilated cardiomyopathy 1W [RCV002491147]|Dilated cardiomyopathy 1W [RCV002529033]|Wolff-Parkinson-White pattern [RCV000656210]|not provided [RCV001811081] |
Chr10:74072780 [GRCh38]
Chr10:75832538 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3379G>A (p.Val1127Ile) |
single nucleotide variant |
Wolff-Parkinson-White pattern [RCV000656218] |
Chr10:74118143 [GRCh38]
Chr10:75877901 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1743+6A>T |
single nucleotide variant |
Cardiomyopathy [RCV003486891]|Dilated cardiomyopathy 1W [RCV001297577]|not provided [RCV001697535] |
Chr10:74095861 [GRCh38]
Chr10:75855619 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.2399A>T (p.Asp800Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620283]|Dilated cardiomyopathy 1W [RCV001055000]|Dilated cardiomyopathy 1W [RCV002498996]|not provided [RCV001567240] |
Chr10:74105318 [GRCh38]
Chr10:75865076 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.874+13T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002060629]|not provided [RCV004705715]|not specified [RCV000600292] |
Chr10:74082557 [GRCh38]
Chr10:75842315 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys) |
inversion |
Cardiovascular phenotype [RCV002384172]|Dilated cardiomyopathy 1W [RCV000537206]|Dilated cardiomyopathy 1W [RCV002483454]|not provided [RCV001562499] |
Chr10:74090142..74090143 [GRCh38]
Chr10:75849900..75849901 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.2655C>T (p.Phe885=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456380]|Dilated cardiomyopathy 1W [RCV001419699]|not provided [RCV001719013] |
Chr10:74109066 [GRCh38]
Chr10:75868824 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) |
single nucleotide variant |
Cardiomyopathy [RCV003486890]|Cardiovascular phenotype [RCV002395544]|Congestive heart failure [RCV000678763]|Dilated cardiomyopathy 1W [RCV000689300]|Dilated cardiomyopathy 1W [RCV002483672]|not provided [RCV001755986]|not specified [RCV000615524] |
Chr10:74094408 [GRCh38]
Chr10:75854166 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.875-24T>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001520452]|Hypertrophic cardiomyopathy 15 [RCV002245033]|not provided [RCV000830413]|not specified [RCV000596456] |
Chr10:74083342 [GRCh38]
Chr10:75843100 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.169-10delinsTG |
indel |
Cardiomyopathy [RCV003150301]|not specified [RCV000616280] |
Chr10:74043073 [GRCh38]
Chr10:75802831 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1800C>T (p.Ser600=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004024993]|Dilated cardiomyopathy 1W [RCV001446202]|not specified [RCV000610444] |
Chr10:74097260 [GRCh38]
Chr10:75857018 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3102G>A (p.Lys1034=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323997]|Dilated cardiomyopathy 1W [RCV000538181] |
Chr10:74114336 [GRCh38]
Chr10:75874094 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2387C>T (p.Pro796Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001854019]|not provided [RCV000594874] |
Chr10:74105306 [GRCh38]
Chr10:75865064 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2435-3T>C |
single nucleotide variant |
not specified [RCV000608097] |
Chr10:74107227 [GRCh38]
Chr10:75866985 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2803G>A (p.Asp935Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438427]|Dilated cardiomyopathy 1W [RCV000557018] |
Chr10:74111966 [GRCh38]
Chr10:75871724 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1170T>C (p.Ala390=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331044]|Dilated cardiomyopathy 1W [RCV000894909]|VCL-related disorder [RCV003962766]|not specified [RCV000608267] |
Chr10:74089343 [GRCh38]
Chr10:75849101 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1743+19T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002528652]|not specified [RCV000608400] |
Chr10:74095874 [GRCh38]
Chr10:75855632 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.169-11del |
deletion |
Dilated cardiomyopathy 1W [RCV002062177]|Dilated cardiomyopathy 1W [RCV002498896]|not specified [RCV000614530] |
Chr10:74043065 [GRCh38]
Chr10:75802823 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.225A>G (p.Pro75=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448728]|Dilated cardiomyopathy 1W [RCV001411641]|not specified [RCV000611706] |
Chr10:74043139 [GRCh38]
Chr10:75802897 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2823C>T (p.Val941=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001478140]|not provided [RCV001698040] |
Chr10:74111986 [GRCh38]
Chr10:75871744 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1001_1015del (p.Gln334_Leu338del) |
deletion |
Cardiovascular phenotype [RCV000619820] |
Chr10:74083491..74083505 [GRCh38]
Chr10:75843249..75843263 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.622+18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002066863]|not specified [RCV000604004] |
Chr10:74072870 [GRCh38]
Chr10:75832628 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.379G>A (p.Asp127Asn) |
single nucleotide variant |
not provided [RCV000522532] |
Chr10:74070809 [GRCh38]
Chr10:75830567 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3246G>A (p.Glu1082=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621758] |
Chr10:74114887 [GRCh38]
Chr10:75874645 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3245A>C (p.Glu1082Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645311] |
Chr10:74114886 [GRCh38]
Chr10:75874644 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2699T>C (p.Met900Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645312] |
Chr10:74109110 [GRCh38]
Chr10:75868868 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.32G>A (p.Ser11Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162925]|Dilated cardiomyopathy 1W [RCV000645313]|not provided [RCV000786269] |
Chr10:73998239 [GRCh38]
Chr10:75757997 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.768T>A (p.Asp256Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645316]|Dilated cardiomyopathy 1W [RCV002507101] |
Chr10:74074888 [GRCh38]
Chr10:75834646 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp) |
single nucleotide variant |
Cardiomyopathy [RCV000769120]|Cardiovascular phenotype [RCV002449041]|Dilated cardiomyopathy 1W [RCV000645317] |
Chr10:74118031 [GRCh38]
Chr10:75877789 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1861A>C (p.Asn621His) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645318]|not provided [RCV001766385] |
Chr10:74097321 [GRCh38]
Chr10:75857079 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2443A>G (p.Lys815Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645324]|Dilated cardiomyopathy 1W [RCV002493026] |
Chr10:74107238 [GRCh38]
Chr10:75866996 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.853C>T (p.Arg285Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004678785]|Dilated cardiomyopathy 1W [RCV000645325]|Dilated cardiomyopathy 1W [RCV002507102]|Hypertrophic cardiomyopathy [RCV000857225] |
Chr10:74082523 [GRCh38]
Chr10:75842281 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.437C>A (p.Thr146Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645326] |
Chr10:74071021 [GRCh38]
Chr10:75830779 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1582C>T (p.Arg528Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004025676]|Dilated cardiomyopathy 1W [RCV000645328] |
Chr10:74095694 [GRCh38]
Chr10:75855452 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1863C>G (p.Asn621Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406408]|Dilated cardiomyopathy 1W [RCV000645329]|not provided [RCV000786267] |
Chr10:74097323 [GRCh38]
Chr10:75857081 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3237C>T (p.Ile1079=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449042]|Dilated cardiomyopathy 1W [RCV000645331] |
Chr10:74114878 [GRCh38]
Chr10:75874636 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3033C>T (p.Thr1011=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002440311]|Dilated cardiomyopathy 1W [RCV000645339] |
Chr10:74114267 [GRCh38]
Chr10:75874025 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.255C>T (p.Cys85=) |
single nucleotide variant |
Cardiomyopathy [RCV000770291]|Cardiovascular phenotype [RCV002458086]|Dilated cardiomyopathy 1W [RCV000645341] |
Chr10:74070685 [GRCh38]
Chr10:75830443 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1234T>C (p.Leu412=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000645342] |
Chr10:74090080 [GRCh38]
Chr10:75849838 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1177-18C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002066605]|not specified [RCV000606585] |
Chr10:74090005 [GRCh38]
Chr10:75849763 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2035G>T (p.Ala679Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162770]|Dilated cardiomyopathy 1W [RCV001065917]|Primary dilated cardiomyopathy [RCV000627046] |
Chr10:74103832 [GRCh38]
Chr10:75863590 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1873-7C>T |
single nucleotide variant |
Cardiomyopathy [RCV003487208] |
Chr10:74100941 [GRCh38]
Chr10:75860699 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| Single allele |
duplication |
Dilated cardiomyopathy 1W [RCV000677948] |
Chr10:75802539..75896413 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32 |
pathogenic |
| NM_014000.3(VCL):c.240-4A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002456617]|Dilated cardiomyopathy 1W [RCV001394530] |
Chr10:74070666 [GRCh38]
Chr10:75830424 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1543G>A (p.Gly515Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000686939] |
Chr10:74094461 [GRCh38]
Chr10:75854219 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1046C>T (p.Ala349Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397430]|Dilated cardiomyopathy 1W [RCV000697668]|Dilated cardiomyopathy 1W [RCV002485703] |
Chr10:74089219 [GRCh38]
Chr10:75848977 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1648C>G (p.Gln550Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397484]|Dilated cardiomyopathy 1W [RCV000706315]|not provided [RCV002269306] |
Chr10:74095760 [GRCh38]
Chr10:75855518 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.783+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002406542]|Dilated cardiomyopathy 1W [RCV000687311]|not provided [RCV001568286] |
Chr10:74074908 [GRCh38]
Chr10:75834666 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.536A>C (p.Gln179Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000694893] |
Chr10:74072766 [GRCh38]
Chr10:75832524 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.701T>C (p.Val234Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000697417] |
Chr10:74074821 [GRCh38]
Chr10:75834579 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1856C>T (p.Ala619Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406547]|Dilated cardiomyopathy 1W [RCV000688456]|not provided [RCV004773091] |
Chr10:74097316 [GRCh38]
Chr10:75857074 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1050G>A (p.Met350Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397406]|Dilated cardiomyopathy 1W [RCV000693616] |
Chr10:74089223 [GRCh38]
Chr10:75848981 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2330C>T (p.Pro777Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458213]|Dilated cardiomyopathy 1W [RCV000688875] |
Chr10:74105249 [GRCh38]
Chr10:75865007 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.511A>G (p.Met171Val) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000697089] |
Chr10:74072741 [GRCh38]
Chr10:75832499 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_014000.3(VCL):c.1294C>T (p.Leu432=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003624456]|not provided [RCV001529960]|not specified [RCV001700782] |
Chr10:74090140 [GRCh38]
Chr10:75849898 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1458G>A (p.Pro486=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003363022]|Dilated cardiomyopathy 1W [RCV001497600] |
Chr10:74094376 [GRCh38]
Chr10:75854134 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2834T>C (p.Met945Thr) |
single nucleotide variant |
Cardiomyopathy [RCV000852431]|Cardiovascular phenotype [RCV002434049]|Dilated cardiomyopathy 1W [RCV001858506]|not provided [RCV001575741] |
Chr10:74111997 [GRCh38]
Chr10:75871755 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2950-201T>C |
single nucleotide variant |
not provided [RCV001534731] |
Chr10:74113983 [GRCh38]
Chr10:75873741 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3153+51_3153+54dup |
duplication |
not provided [RCV001585234] |
Chr10:74114434..74114435 [GRCh38]
Chr10:75874192..75874193 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1353-203A>G |
single nucleotide variant |
not provided [RCV001535317] |
Chr10:74094068 [GRCh38]
Chr10:75853826 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.69G>A (p.Leu23=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378220] |
Chr10:73998276 [GRCh38]
Chr10:75758034 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1505G>A (p.Arg502Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391051]|Dilated cardiomyopathy 1W [RCV001054361]|not provided [RCV000994447] |
Chr10:74094423 [GRCh38]
Chr10:75854181 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3153+49T>C |
single nucleotide variant |
not provided [RCV001611679] |
Chr10:74114436 [GRCh38]
Chr10:75874194 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3153+54_3153+55insCATG |
insertion |
not provided [RCV001566032] |
Chr10:74114439..74114440 [GRCh38]
Chr10:75874197..75874198 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2904C>T (p.Ala968=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000927374]|not provided [RCV001585870] |
Chr10:74112067 [GRCh38]
Chr10:75871825 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2517G>A (p.Glu839=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001428768] |
Chr10:74107312 [GRCh38]
Chr10:75867070 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1164C>T (p.Ile388=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320056]|Dilated cardiomyopathy 1W [RCV000877336]|not provided [RCV001593112] |
Chr10:74089337 [GRCh38]
Chr10:75849095 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.2434+10G>A |
single nucleotide variant |
not provided [RCV000877545] |
Chr10:74105363 [GRCh38]
Chr10:75865121 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2601A>G (p.Glu867=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427296]|Dilated cardiomyopathy 1W [RCV000926674] |
Chr10:74109012 [GRCh38]
Chr10:75868770 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2091C>T (p.Thr697=) |
single nucleotide variant |
not provided [RCV000864025] |
Chr10:74103888 [GRCh38]
Chr10:75863646 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2019C>T (p.Pro673=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003363029]|Dilated cardiomyopathy 1W [RCV001481325] |
Chr10:74101094 [GRCh38]
Chr10:75860852 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.558G>A (p.Glu186=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001431854] |
Chr10:74072788 [GRCh38]
Chr10:75832546 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2110G>A (p.Asp704Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001052913] |
Chr10:74103907 [GRCh38]
Chr10:75863665 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.664G>T (p.Gly222Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001038788] |
Chr10:74074784 [GRCh38]
Chr10:75834542 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.863G>T (p.Ser288Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001055914] |
Chr10:74082533 [GRCh38]
Chr10:75842291 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.527A>G (p.Asp176Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV003363063]|Dilated cardiomyopathy 1W [RCV001043413]|Dilated cardiomyopathy 1W [RCV002479272] |
Chr10:74072757 [GRCh38]
Chr10:75832515 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del) |
deletion |
Cardiovascular phenotype [RCV002436645]|Dilated cardiomyopathy 1W [RCV001061827]|Dilated cardiomyopathy 1W [RCV002479366]|not provided [RCV001772284]|not specified [RCV001195273] |
Chr10:74111937..74111942 [GRCh38]
Chr10:75871695..75871700 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.529G>A (p.Glu177Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348380]|Dilated cardiomyopathy 1W [RCV001047739] |
Chr10:74072759 [GRCh38]
Chr10:75832517 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1127C>G (p.Ala376Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001058671] |
Chr10:74089300 [GRCh38]
Chr10:75849058 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2388_2389delinsAG (p.Met797Val) |
indel |
Cardiovascular phenotype [RCV003283929]|Dilated cardiomyopathy 1W [RCV001058779] |
Chr10:74105307..74105308 [GRCh38]
Chr10:75865065..75865066 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1879G>A (p.Asp627Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001035410]|Dilated cardiomyopathy 1W [RCV002497354] |
Chr10:74100954 [GRCh38]
Chr10:75860712 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2030C>T (p.Ser677Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001039172]|Hypertrophic cardiomyopathy 15 [RCV001805984]|not provided [RCV003141953] |
Chr10:74103827 [GRCh38]
Chr10:75863585 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1721C>T (p.Ser574Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001037617] |
Chr10:74095833 [GRCh38]
Chr10:75855591 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2326G>A (p.Asp776Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001054413] |
Chr10:74105245 [GRCh38]
Chr10:75865003 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.626T>A (p.Met209Lys) |
single nucleotide variant |
Cardiomyopathy [RCV000770295]|Dilated cardiomyopathy 1W [RCV003117552] |
Chr10:74074746 [GRCh38]
Chr10:75834504 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.151G>T (p.Val51Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001869155]|not specified [RCV000780786] |
Chr10:73998358 [GRCh38]
Chr10:75758116 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2935A>G (p.Lys979Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003512083]|Primary familial dilated cardiomyopathy [RCV000845424] |
Chr10:74112098 [GRCh38]
Chr10:75871856 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.500G>A (p.Gly167Glu) |
single nucleotide variant |
Cardiomyopathy [RCV000770293] |
Chr10:74072730 [GRCh38]
Chr10:75832488 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1806C>A (p.Thr602=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001441655] |
Chr10:74097266 [GRCh38]
Chr10:75857024 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2005C>A (p.Arg669=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001441762] |
Chr10:74101080 [GRCh38]
Chr10:75860838 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.591C>T (p.Thr197=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000922092] |
Chr10:74072821 [GRCh38]
Chr10:75832579 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2143G>A (p.Glu715Lys) |
single nucleotide variant |
Cardiomyopathy [RCV000769115]|Cardiovascular phenotype [RCV002424760]|Dilated cardiomyopathy 1W [RCV001205629] |
Chr10:74105062 [GRCh38]
Chr10:75864820 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2867T>G (p.Met956Arg) |
single nucleotide variant |
Cardiomyopathy [RCV000769118]|Cardiovascular phenotype [RCV002440594] |
Chr10:74112030 [GRCh38]
Chr10:75871788 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.963del (p.Leu322fs) |
deletion |
Cardiomyopathy [RCV000769107] |
Chr10:74083453 [GRCh38]
Chr10:75843211 [GRCh37]
Chr10:10q22.2 |
likely pathogenic|uncertain significance |
| NM_014000.3(VCL):c.1521C>T (p.Pro507=) |
single nucleotide variant |
Cardiomyopathy [RCV000769109] |
Chr10:74094439 [GRCh38]
Chr10:75854197 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2285G>A (p.Arg762Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442619]|Dilated cardiomyopathy 1W [RCV000793140]|Dilated cardiomyopathy 1W [RCV002501042]|not provided [RCV001796221] |
Chr10:74105204 [GRCh38]
Chr10:75864962 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.622+4C>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000813764] |
Chr10:74072856 [GRCh38]
Chr10:75832614 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2435-59C>A |
single nucleotide variant |
not provided [RCV000831958] |
Chr10:74107171 [GRCh38]
Chr10:75866929 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2745+151T>C |
single nucleotide variant |
not provided [RCV000831959] |
Chr10:74109307 [GRCh38]
Chr10:75869065 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3164G>A (p.Arg1055Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000802718]|not provided [RCV001759527] |
Chr10:74114805 [GRCh38]
Chr10:75874563 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1353-233C>T |
single nucleotide variant |
not provided [RCV000837618] |
Chr10:74094038 [GRCh38]
Chr10:75853796 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1743+6A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000821150]|Dilated cardiomyopathy 1W [RCV002478921]|not provided [RCV004588294] |
Chr10:74095861 [GRCh38]
Chr10:75855619 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.20G>T (p.Arg7Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004027471]|Dilated cardiomyopathy 1W [RCV000794108]|Dilated cardiomyopathy 1W [RCV002501044]|not provided [RCV003442073] |
Chr10:73998227 [GRCh38]
Chr10:75757985 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2950-50C>T |
single nucleotide variant |
not provided [RCV000831960] |
Chr10:74114134 [GRCh38]
Chr10:75873892 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1961A>G (p.Asn654Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000811208] |
Chr10:74101036 [GRCh38]
Chr10:75860794 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2273G>A (p.Arg758His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442702]|Dilated cardiomyopathy 1W [RCV000807693] |
Chr10:74105192 [GRCh38]
Chr10:75864950 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2434+48C>T |
single nucleotide variant |
not provided [RCV000834667] |
Chr10:74105401 [GRCh38]
Chr10:75865159 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1872+199A>C |
single nucleotide variant |
not provided [RCV000834792] |
Chr10:74097531 [GRCh38]
Chr10:75857289 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1803T>A (p.Asp601Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362979]|Dilated cardiomyopathy 1W [RCV000821719]|not provided [RCV001701321] |
Chr10:74097263 [GRCh38]
Chr10:75857021 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.571T>C (p.Leu191=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345920]|Dilated cardiomyopathy 1W [RCV001086207]|not provided [RCV000828965] |
Chr10:74072801 [GRCh38]
Chr10:75832559 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.784-60G>A |
single nucleotide variant |
not provided [RCV000830471] |
Chr10:74082394 [GRCh38]
Chr10:75842152 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3039_3043dup (p.Leu1015fs) |
duplication |
Dilated cardiomyopathy 1W [RCV000796420] |
Chr10:74114272..74114273 [GRCh38]
Chr10:75874030..75874031 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1659C>G (p.Ala553=) |
single nucleotide variant |
not provided [RCV000994448] |
Chr10:74095771 [GRCh38]
Chr10:75855529 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.622+191C>T |
single nucleotide variant |
not provided [RCV000830395] |
Chr10:74073043 [GRCh38]
Chr10:75832801 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2022+167C>T |
single nucleotide variant |
not provided [RCV000833670] |
Chr10:74101264 [GRCh38]
Chr10:75861022 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3358G>A (p.Ala1120Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000802321] |
Chr10:74118122 [GRCh38]
Chr10:75877880 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1022+172TTTA[3] |
microsatellite |
not provided [RCV000836246] |
Chr10:74083685..74083688 [GRCh38]
Chr10:75843443..75843446 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.2543A>G (p.Asp848Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000799075] |
Chr10:74107338 [GRCh38]
Chr10:75867096 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1835C>T (p.Ala612Val) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000802963] |
Chr10:74097295 [GRCh38]
Chr10:75857053 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2950-22C>G |
single nucleotide variant |
not provided [RCV000830472]|not specified [RCV001702729] |
Chr10:74114162 [GRCh38]
Chr10:75873920 [GRCh37]
Chr10:10q22.2 |
benign|likely benign |
| NM_014000.3(VCL):c.1999A>G (p.Thr667Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002422828]|Dilated cardiomyopathy 1W [RCV000816049]|not specified [RCV004800602] |
Chr10:74101074 [GRCh38]
Chr10:75860832 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2559+18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003624430]|not provided [RCV000842181] |
Chr10:74107372 [GRCh38]
Chr10:75867130 [GRCh37]
Chr10:10q22.2 |
likely benign |
| GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1 |
copy number loss |
not provided [RCV000849346] |
Chr10:75251395..75763287 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1297C>T (p.Arg433Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381903]|Dilated cardiomyopathy 1W [RCV002068635]|not provided [RCV000845532] |
Chr10:74090143 [GRCh38]
Chr10:75849901 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1382C>A (p.Ala461Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV003624431]|Primary dilated cardiomyopathy [RCV000850342] |
Chr10:74094300 [GRCh38]
Chr10:75854058 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1743+229C>T |
single nucleotide variant |
not provided [RCV000837605] |
Chr10:74096084 [GRCh38]
Chr10:75855842 [GRCh37]
Chr10:10q22.2 |
benign |
| NC_000010.11:g.(?_73998188)_(73998395_?)del |
deletion |
Dilated cardiomyopathy 1W [RCV000807237] |
Chr10:73998188..73998395 [GRCh38]
Chr10:75757946..75758153 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.875-324dup |
duplication |
not provided [RCV000828486] |
Chr10:74083041..74083042 [GRCh38]
Chr10:75842799..75842800 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.622+158G>A |
single nucleotide variant |
not provided [RCV000830394] |
Chr10:74073010 [GRCh38]
Chr10:75832768 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2558G>A (p.Arg853Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001045939]|Dilated cardiomyopathy 1W [RCV002479283] |
Chr10:74107353 [GRCh38]
Chr10:75867111 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.623-83T>C |
single nucleotide variant |
not provided [RCV000830689] |
Chr10:74074660 [GRCh38]
Chr10:75834418 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2038C>T (p.Arg680Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416274]|Dilated cardiomyopathy 1W [RCV001869381]|Dilated cardiomyopathy 1W [RCV002479166]|not provided [RCV000994449] |
Chr10:74103835 [GRCh38]
Chr10:75863593 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.622+211T>C |
single nucleotide variant |
not provided [RCV000830396] |
Chr10:74073063 [GRCh38]
Chr10:75832821 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.2:c.875-24T>A |
single nucleotide variant |
not provided [RCV000830413] |
Chr10:75843100 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2131+64C>T |
single nucleotide variant |
not provided [RCV000830414] |
Chr10:74103992 [GRCh38]
Chr10:74103992..74103993 [GRCh38]
Chr10:75863750 [GRCh37]
Chr10:75863750..75863751 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3399C>T (p.Tyr1133=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV002065613] |
Chr10:74118163 [GRCh38]
Chr10:75877921 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.169-290A>G |
single nucleotide variant |
not provided [RCV000830687] |
Chr10:74042793 [GRCh38]
Chr10:75802551 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1873-183C>T |
single nucleotide variant |
not provided [RCV001581840] |
Chr10:74100765 [GRCh38]
Chr10:75860523 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1612C>T (p.Arg538Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362953]|Dilated cardiomyopathy 1W [RCV000802760] |
Chr10:74095724 [GRCh38]
Chr10:75855482 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.2(VCL):c.-386A>G |
single nucleotide variant |
not provided [RCV000844242] |
Chr10:73997822 [GRCh38]
Chr10:75757580 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.500-281T>C |
single nucleotide variant |
not provided [RCV000844244] |
Chr10:74072449 [GRCh38]
Chr10:75832207 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.2(VCL):c.-264A>G |
single nucleotide variant |
not provided [RCV000844245] |
Chr10:73997944 [GRCh38]
Chr10:75757702 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2760C>T (p.Ala920=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434039]|Dilated cardiomyopathy 1W [RCV002538273]|not provided [RCV000829175] |
Chr10:74111923 [GRCh38]
Chr10:75871681 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1872+197G>C |
single nucleotide variant |
not provided [RCV000834741] |
Chr10:74097529 [GRCh38]
Chr10:75857287 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2182G>A (p.Glu728Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427018]|Dilated cardiomyopathy 1W [RCV000816512] |
Chr10:74105101 [GRCh38]
Chr10:75864859 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.500-236A>G |
single nucleotide variant |
not provided [RCV000838273] |
Chr10:74072494 [GRCh38]
Chr10:75832252 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3363A>C (p.Gly1121=) |
single nucleotide variant |
Cardiomyopathy [RCV001799013]|Dilated cardiomyopathy 1W [RCV001477349] |
Chr10:74118127 [GRCh38]
Chr10:75877885 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1177-158_1177-157insCA |
insertion |
not provided [RCV000832265] |
Chr10:74089865..74089866 [GRCh38]
Chr10:75849623..75849624 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2434+159G>A |
single nucleotide variant |
not provided [RCV000832266] |
Chr10:74105512 [GRCh38]
Chr10:75865270 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1620T>A (p.Asp540Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV000823851]|Dilated cardiomyopathy 1W [RCV002507444] |
Chr10:74095732 [GRCh38]
Chr10:75855490 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1039C>T (p.Pro347Ser) |
single nucleotide variant |
Cardiomyopathy [RCV003150354]|Cardiovascular phenotype [RCV003372875]|Dilated cardiomyopathy 1W [RCV000814663]|Dilated cardiomyopathy 1W [RCV002487787]|not provided [RCV001574631] |
Chr10:74089212 [GRCh38]
Chr10:75848970 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| GRCh37/hg19 10q22.2(chr10:75832145-75885881)x3 |
copy number gain |
not provided [RCV000847138] |
Chr10:75832145..75885881 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.24G>T (p.Thr8=) |
single nucleotide variant |
not provided [RCV000870751] |
Chr10:73998231 [GRCh38]
Chr10:75757989 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.1871A>T (p.Glu624Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004035286]|Dilated cardiomyopathy 1W [RCV001248709]|not provided [RCV003128757] |
Chr10:74097331 [GRCh38]
Chr10:75857089 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.739G>A (p.Val247Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379759]|Dilated cardiomyopathy 1W [RCV001202306]|Dilated cardiomyopathy 1W [RCV002491604] |
Chr10:74074859 [GRCh38]
Chr10:75834617 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2977C>T (p.Arg993Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004067531]|Dilated cardiomyopathy 1W [RCV003103122]|not provided [RCV002462402] |
Chr10:74114211 [GRCh38]
Chr10:75873969 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1816A>G (p.Ile606Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411814]|Dilated cardiomyopathy 1W [RCV001220591] |
Chr10:74097276 [GRCh38]
Chr10:75857034 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1301C>A (p.Ser434Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001239182]|not provided [RCV004692287] |
Chr10:74090147 [GRCh38]
Chr10:75849905 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2848G>A (p.Glu950Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001239250]|not provided [RCV001796408] |
Chr10:74112011 [GRCh38]
Chr10:75871769 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1147A>G (p.Ser383Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451433]|Dilated cardiomyopathy 1W [RCV001205395] |
Chr10:74089320 [GRCh38]
Chr10:75849078 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1543+6G>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001237301] |
Chr10:74094467 [GRCh38]
Chr10:75854225 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2272C>T (p.Arg758Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001243198] |
Chr10:74105191 [GRCh38]
Chr10:75864949 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2806G>C (p.Ala936Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001243486] |
Chr10:74111969 [GRCh38]
Chr10:75871727 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1792G>C (p.Val598Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001229798] |
Chr10:74097252 [GRCh38]
Chr10:75857010 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1542C>A (p.Val514=) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001221908] |
Chr10:74094460 [GRCh38]
Chr10:75854218 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1303C>T (p.Leu435Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001225639] |
Chr10:74090149 [GRCh38]
Chr10:75849907 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1759A>G (p.Met587Val) |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001219259] |
Chr10:74097219 [GRCh38]
Chr10:75856977 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3373C>G (p.Arg1125Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV003293227] |
Chr10:74118137 [GRCh38]
Chr10:75877895 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.874+6_874+9del |
deletion |
not provided [RCV000994446] |
Chr10:74082549..74082552 [GRCh38]
Chr10:75842307..75842310 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.2230A>G (p.Ile744Val) |
single nucleotide variant |
not provided [RCV000994450] |
Chr10:74105149 [GRCh38]
Chr10:75864907 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.1433A>G (p.Asn478Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393356]|Dilated cardiomyopathy 1W [RCV001106706]|not provided [RCV001560110] |
Chr10:74094351 [GRCh38]
Chr10:75854109 [GRCh37]
Chr10:10q22.2 |
likely benign|uncertain significance |
| NM_014000.3(VCL):c.1472T>C (p.Val491Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393357]|Dilated cardiomyopathy 1W [RCV001106707] |
Chr10:74094390 [GRCh38]
Chr10:75854148 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*107T>A |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001106791] |
Chr10:74118276 [GRCh38]
Chr10:75878034 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.*1526A>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001103809]|not provided [RCV004693609] |
Chr10:74119695 [GRCh38]
Chr10:75879453 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.*646C>G |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001107428]|Dilated cardiomyopathy 1W [RCV002482191]|not provided [RCV003413920] |
Chr10:74118815 [GRCh38]
Chr10:75878573 [GRCh37]
Chr10:10q22.2 |
benign|uncertain significance |
| NM_014000.3(VCL):c.*1636C>T |
single nucleotide variant |
Dilated cardiomyopathy 1W [RCV001105749] |
Chr10:74119805 [GRCh38]
Chr10:75879563 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.964C>G (p.Leu322Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003293228] |
Chr10:74083455 [GRCh38]
Chr10:75843213 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.622+88C>G |
single nucleotide variant |
not provided [RCV001716811] |
Chr10:74072940 [GRCh38]
Chr10:75832698 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1743+310dup |
duplication |
not provided [RCV001549707] |
Chr10:74096150..74096151 [GRCh38]
Chr10:75855908..75855909 [GRCh37]
Chr10:10q22.2 |
likely benign |
| NM_014000.3(VCL):c.3154-138A>G |
single nucleotide variant |
not provided [RCV001615467] |
Chr10:74114657 [GRCh38]
Chr10:75874415 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.2284C>T (p.Arg762Trp) |
single nucleotide variant |
Cardiomyopathy [RCV001799110]|Cardiovascular phenotype [RCV003161151]|Dilated cardiomyopathy 1W [RCV001866242]|not provided [RCV001598493] |
Chr10:74105203 [GRCh38]
Chr10:75864961 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.239+210dup |
duplication |
not provided [RCV001688621] |
Chr10:74043351..74043352 [GRCh38]
Chr10:75803109..75803110 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3144C>A (p.Asn1048Lys) |
single nucleotide variant |
not provided [RCV001569447] |
Chr10:74114378 [GRCh38]
Chr10:75874136 [GRCh37]
Chr10:10q22.2 |
uncertain significance |
| NM_014000.3(VCL):c.3153+22GT[11] |
microsatellite |
not provided [RCV001696283] |
Chr10:74114409..74114414 [GRCh38]
Chr10:75874167..75874172 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.623-30A>G |
single nucleotide variant |
not provided [RCV004718959]|not specified [RCV001723492] |
Chr10:74074713 [GRCh38]
Chr10:75834471 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.1177-278T>C |
single nucleotide variant |
not provided [RCV001689134] |
Chr10:74089745 [GRCh38]
Chr10:75849503 [GRCh37]
Chr10:10q22.2 |
benign |
| NM_014000.3(VCL):c.3153+22GT[18] |
microsatellite |
not provided [RCV001552229] |
Chr10:74114408..74114409 [GRCh38]
Chr10:75874166..75874167 [GRCh37]
Chr10:10q22.2 |
likely benign |
|
