| NM_020297.4(ABCC9):c.2889_2891del (p.Glu963del) |
deletion |
Dilated cardiomyopathy 1O [RCV000546707] |
Chr12:21845808..21845810 [GRCh38]
Chr12:21998742..21998744 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001853664]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002490917]|not provided [RCV000519602] |
Chr12:21875666 [GRCh38]
Chr12:22028600 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1165-5G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002526117]|not provided [RCV000550539] |
Chr12:21910317 [GRCh38]
Chr12:22063251 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3575C>A (p.Thr1192Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456019]|Dilated cardiomyopathy 1O [RCV001858032]|not provided [RCV000522889] |
Chr12:21829052 [GRCh38]
Chr12:21981986 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3621T>C (p.Ile1207=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456119]|Dilated cardiomyopathy 1O [RCV000528930] |
Chr12:21829006 [GRCh38]
Chr12:21981940 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1901A>C (p.His634Pro) |
single nucleotide variant |
not provided [RCV000523307] |
Chr12:21887836 [GRCh38]
Chr12:22040770 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) |
single nucleotide variant |
ABCC9-Related Disorders [RCV003335055]|Dilated cardiomyopathy 1O [RCV000546897]|Epicanthus [RCV001270102]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000024624]|not provided [RCV001570693] |
Chr12:21842327 [GRCh38]
Chr12:21995261 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) |
single nucleotide variant |
ABCC9-related disorder [RCV003335056]|Dilated cardiomyopathy 1O [RCV000559460]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000024625]|not provided [RCV000256056] |
Chr12:21842326 [GRCh38]
Chr12:21995260 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.3128G>A (p.Cys1043Tyr) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000024626] |
Chr12:21844884 [GRCh38]
Chr12:21997818 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.1433C>T (p.Ala478Val) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000024627] |
Chr12:21908099 [GRCh38]
Chr12:22061033 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001216671]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000029188] |
Chr12:21842440 [GRCh38]
Chr12:21995374 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321487]|Dilated cardiomyopathy 1O [RCV000809546]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000029189]|Kleefstra syndrome 1 [RCV001249678]|not provided [RCV001699182] |
Chr12:21842441 [GRCh38]
Chr12:21995375 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.3058T>C (p.Ser1020Pro) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000029190] |
Chr12:21845641 [GRCh38]
Chr12:21998575 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.178C>T (p.His60Tyr) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000029191] |
Chr12:21933888 [GRCh38]
Chr12:22086822 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.-11T>C |
single nucleotide variant |
Cardiomyopathy [RCV000029272]|Dilated cardiomyopathy 1O [RCV000311917]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000351706]|not specified [RCV000038578] |
Chr12:21936685 [GRCh38]
Chr12:22089619 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance|not provided |
| NM_020297.4(ABCC9):c.1165-6del |
deletion |
Cardiomyopathy [RCV000029273]|Dilated Cardiomyopathy, Dominant [RCV000406815]|Dilated cardiomyopathy 1O [RCV000860765]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000354820]|not provided [RCV001537819]|not specified [RCV000611204] |
Chr12:21910318 [GRCh38]
Chr12:22063252 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) |
single nucleotide variant |
Cardiomyopathy [RCV000029274]|Cardiomyopathy [RCV000852670]|Cardiovascular phenotype [RCV000251925]|Dilated cardiomyopathy 1O [RCV001082826]|Myocardial infarction [RCV000172738]|not provided [RCV001528354]|not specified [RCV000038600] |
Chr12:21864476 [GRCh38]
Chr12:22017410 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) |
single nucleotide variant |
Cardiomyopathy [RCV001170962]|Cardiovascular phenotype [RCV000243743]|Dilated cardiomyopathy 1O [RCV000465190]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109675]|Primary dilated cardiomyopathy [RCV000029275]|not provided [RCV001530070]|not specified [RCV000038605] |
Chr12:21852488 [GRCh38]
Chr12:22005422 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter) |
single nucleotide variant |
Cardiomyopathy [RCV000029276]|Dilated cardiomyopathy 1O [RCV000795388] |
Chr12:21852457 [GRCh38]
Chr12:22005391 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) |
single nucleotide variant |
Cardiomyopathy [RCV000029277]|Cardiovascular phenotype [RCV000244444]|Dilated cardiomyopathy 1O [RCV000227778]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000298765]|not specified [RCV000038606] |
Chr12:21852380 [GRCh38]
Chr12:22005314 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.2644-11G>A |
single nucleotide variant |
Cardiomyopathy [RCV000029278]|Dilated cardiomyopathy 1O [RCV000348574]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000291264]|not provided [RCV001528430]|not specified [RCV000038607] |
Chr12:21852233 [GRCh38]
Chr12:22005167 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) |
single nucleotide variant |
Cardiomyopathy [RCV000029279]|Cardiovascular phenotype [RCV000246184]|Dilated cardiomyopathy 1O [RCV000205103]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111876]|not provided [RCV001528802]|not specified [RCV000038610] |
Chr12:21842466 [GRCh38]
Chr12:21995400 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) |
single nucleotide variant |
Cardiomyopathy [RCV000029280]|Dilated cardiomyopathy 1O [RCV000205996]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109590]|not provided [RCV001530035]|not specified [RCV000038613] |
Chr12:21818153 [GRCh38]
Chr12:21971087 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4450-5del |
deletion |
Cardiomyopathy [RCV000029281]|Cardiovascular phenotype [RCV000619283]|Dilated cardiomyopathy 1O [RCV000988798]|Primary dilated cardiomyopathy [RCV000852669]|not provided [RCV001705600]|not specified [RCV001175377] |
Chr12:21806065 [GRCh38]
Chr12:21958999 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.789C>T (p.Cys263=) |
single nucleotide variant |
ABCC9-related condition [RCV003982850]|Cardiomyopathy [RCV000029282]|Dilated cardiomyopathy 1O [RCV000476248]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113863]|not provided [RCV001811197]|not specified [RCV000038623] |
Chr12:21915695 [GRCh38]
Chr12:22068629 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_005691.3(ABCC9):c.817-16delT |
deletion |
Cardiomyopathy [RCV000029283] |
Chr12:21913082 [GRCh38]
Chr12:22066016 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+814C>T |
single nucleotide variant |
Atrial fibrillation, familial, 12 [RCV000023103]|Cardiomyopathy [RCV000769372]|Dilated cardiomyopathy 1O [RCV001852012]|Hypertrophic cardiomyopathy [RCV001375633] |
Chr12:21805184 [GRCh38]
Chr12:21958118 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic|uncertain significance |
| ABCC9, 3-BP DEL, 4-BP INS, EX38 |
indel |
Dilated cardiomyopathy 1O [RCV000008639] |
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.4537G>A (p.Ala1513Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000008640] |
Chr12:21801157 [GRCh38]
Chr12:21954091 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.1012-59T>C |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548916]|not provided [RCV001694087] |
Chr12:21911037 [GRCh38]
Chr12:22063971 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2961A>G (p.Thr987=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640343] |
Chr12:21845738 [GRCh38]
Chr12:21998672 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000524623]|Inborn genetic diseases [RCV000622750]|not provided [RCV002473051] |
Chr12:21817283 [GRCh38]
Chr12:21970217 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.1130T>C (p.Ile377Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323891]|not provided [RCV000521301] |
Chr12:21910860 [GRCh38]
Chr12:22063794 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2522C>T (p.Ala841Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000545364] |
Chr12:21852489 [GRCh38]
Chr12:22005423 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) |
single nucleotide variant |
ABCC9-related condition [RCV003944918]|Dilated cardiomyopathy 1O [RCV001081586]|not provided [RCV000588040]|not specified [RCV000038576] |
Chr12:21910934 [GRCh38]
Chr12:22063868 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001350869]|not provided [RCV000767008]|not specified [RCV000038579] |
Chr12:21910927 [GRCh38]
Chr12:22063861 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001852809]|not provided [RCV002281728]|not specified [RCV000038580] |
Chr12:21910848 [GRCh38]
Chr12:22063782 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1164+11= |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000330265]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000383488]|not specified [RCV000038581] |
Chr12:21910815 [GRCh38]
Chr12:22063749 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1296= (p.Pro432=) |
single nucleotide variant |
Cardiomyopathy [RCV000770410]|Cardiovascular phenotype [RCV000246990]|Dilated cardiomyopathy 1O [RCV000346009]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000386317]|not specified [RCV000038583] |
Chr12:21910181 [GRCh38]
Chr12:22063115 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1358G>C (p.Gly453Ala) |
single nucleotide variant |
not specified [RCV000038584] |
Chr12:21908174 [GRCh38]
Chr12:22061108 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) |
single nucleotide variant |
ABCC9-related condition [RCV003944919]|Cardiomyopathy [RCV000770407]|Cardiovascular phenotype [RCV000621436]|Dilated cardiomyopathy 1O [RCV001081176]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000356195]|not provided [RCV000459982]|not specified [RCV000038585] |
Chr12:21906187 [GRCh38]
Chr12:22059121 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162339]|Dilated cardiomyopathy 1O [RCV000792599]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002482998]|not provided [RCV000766938]|not specified [RCV000038586] |
Chr12:21906141 [GRCh38]
Chr12:22059075 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) |
single nucleotide variant |
ABCC9-related condition [RCV003924929]|Cardiomyopathy [RCV000770406]|Cardiovascular phenotype [RCV000620779]|Dilated cardiomyopathy 1O [RCV000474261]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109762]|not provided [RCV001528496]|not specified [RCV000038587] |
Chr12:21894157 [GRCh38]
Chr12:22047091 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) |
single nucleotide variant |
Cardiomyopathy [RCV000770405]|Cardiovascular phenotype [RCV000250298]|Dilated cardiomyopathy 1O [RCV000232717]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000347953]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002496612]|not provided [RCV001528557]|not specified [RCV000038588] |
Chr12:21887889 [GRCh38]
Chr12:22040823 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) |
single nucleotide variant |
Cardiomyopathy [RCV000770404]|Cardiovascular phenotype [RCV000617943]|Conduction disorder of the heart [RCV000845371]|Dilated cardiomyopathy 1O [RCV000556250]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113777]|not provided [RCV000172513]|not specified [RCV000038589] |
Chr12:21887850 [GRCh38]
Chr12:22040784 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) |
single nucleotide variant |
Cardiomyopathy [RCV001798119]|Dilated cardiomyopathy 1O [RCV001204365]|not provided [RCV001577765]|not specified [RCV000038590] |
Chr12:21887828 [GRCh38]
Chr12:22040762 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1982G>A (p.Arg661His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001326325]|not specified [RCV000038591] |
Chr12:21882803 [GRCh38]
Chr12:22035737 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1A [RCV001256792]|Dilated cardiomyopathy 1O [RCV000988800]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002490525]|not provided [RCV000767084]|not specified [RCV000038592] |
Chr12:21882798 [GRCh38]
Chr12:22035732 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002513505]|not provided [RCV000766467]|not specified [RCV000038593] |
Chr12:21882785 [GRCh38]
Chr12:22035719 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) |
single nucleotide variant |
ABCC9-related condition [RCV003924930]|Arrhythmogenic right ventricular cardiomyopathy [RCV000852671]|Cardiomyopathy [RCV001170964]|Cardiovascular phenotype [RCV000618613]|Dilated cardiomyopathy 1O [RCV001079802]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112435]|not provided [RCV000172512]|not specified [RCV000038594] |
Chr12:21875696 [GRCh38]
Chr12:22028630 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001059986]|not specified [RCV000038595] |
Chr12:21875665 [GRCh38]
Chr12:22028599 [GRCh37]
Chr12:21919866 [NCBI36]
Chr12:12p12.1 |
likely benign|uncertain significance|not provided |
| NM_020297.4(ABCC9):c.2093-7T>C |
single nucleotide variant |
ABCC9-related condition [RCV003924931]|Brugada syndrome [RCV000577954]|Cardiomyopathy [RCV000770402]|Dilated cardiomyopathy 1O [RCV000461378]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000578010]|not provided [RCV001529825]|not specified [RCV000038596] |
Chr12:21872737 [GRCh38]
Chr12:22025671 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.2149G>A (p.Ala717Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001046473]|not specified [RCV000038597] |
Chr12:21872674 [GRCh38]
Chr12:22025608 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426570]|Dilated cardiomyopathy 1O [RCV000466054]|not specified [RCV000038598] |
Chr12:21872669 [GRCh38]
Chr12:22025603 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2199-11= |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000336614]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000278224]|not specified [RCV000038599] |
Chr12:21864488 [GRCh38]
Chr12:22017422 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) |
single nucleotide variant |
ABCC9-related condition [RCV003914947]|Cardiomyopathy [RCV000770401]|Cardiovascular phenotype [RCV000620041]|Dilated cardiomyopathy 1O [RCV001084062]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111979]|not provided [RCV000475517]|not specified [RCV000038601] |
Chr12:21863030 [GRCh38]
Chr12:22015964 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2339+13A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002054709]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002477104]|not specified [RCV000038602] |
Chr12:21862940 [GRCh38]
Chr12:22015874 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2424+9T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000469260]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000273831]|not provided [RCV001811274]|not specified [RCV000038603] |
Chr12:21860962 [GRCh38]
Chr12:22013896 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2425-13G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003764685]|not specified [RCV000038604] |
Chr12:21859679 [GRCh38]
Chr12:22012613 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2862C>T (p.Asp954=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000230764]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000334002]|not provided [RCV001719753]|not specified [RCV000038608] |
Chr12:21848154 [GRCh38]
Chr12:22001088 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.3096+13C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002054710]|not specified [RCV000038609] |
Chr12:21845590 [GRCh38]
Chr12:21998524 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) |
single nucleotide variant |
Cardiomyopathy [RCV000769376]|Dilated cardiomyopathy 1O [RCV000988799]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111873]|not provided [RCV001711127]|not specified [RCV000038611] |
Chr12:21842378 [GRCh38]
Chr12:21995312 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.372T>C (p.Asn124=) |
single nucleotide variant |
Cardiomyopathy [RCV000769385]|Cardiovascular phenotype [RCV000621321]|Dilated cardiomyopathy 1O [RCV000468437]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000309406]|not provided [RCV001701579]|not specified [RCV000038612] |
Chr12:21925976 [GRCh38]
Chr12:22078910 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) |
single nucleotide variant |
Cardiomyopathy [RCV001798120]|Cardiovascular phenotype [RCV002321515]|Dilated cardiomyopathy 1O [RCV000228704]|not provided [RCV001527679]|not specified [RCV000038614] |
Chr12:21814684 [GRCh38]
Chr12:21967618 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|likely benign |
| NM_020297.4(ABCC9):c.407-14C>A |
single nucleotide variant |
Arrhythmogenic right ventricular cardiomyopathy [RCV000852673]|Dilated cardiomyopathy 1O [RCV000312271]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000366987]|not provided [RCV001530112]|not specified [RCV000038615] |
Chr12:21917117 [GRCh38]
Chr12:22070051 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.420T>C (p.Tyr140=) |
single nucleotide variant |
Cardiomyopathy [RCV000769384]|not specified [RCV000038616] |
Chr12:21917090 [GRCh38]
Chr12:22070024 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001852810]|Primary dilated cardiomyopathy [RCV000208433]|not specified [RCV000038617] |
Chr12:21807443 [GRCh38]
Chr12:21960377 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) |
single nucleotide variant |
Cardiomyopathy [RCV000769373]|Cardiovascular phenotype [RCV002326742]|Dilated cardiomyopathy 1O [RCV000226383]|not provided [RCV001697100]|not specified [RCV000038618] |
Chr12:21807358 [GRCh38]
Chr12:21960292 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+690C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV000618677]|Dilated cardiomyopathy 1O [RCV001038743]|not specified [RCV000038619] |
Chr12:21805308 [GRCh38]
Chr12:21958242 [GRCh37]
Chr12:12p12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4512+787A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001852811]|not provided [RCV000171848]|not specified [RCV000038620] |
Chr12:21805211 [GRCh38]
Chr12:21958145 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.573+6T>C |
single nucleotide variant |
not specified [RCV000038621] |
Chr12:21916931 [GRCh38]
Chr12:22069865 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.574-5C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000251745]|Dilated cardiomyopathy 1O [RCV000336685]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000401337]|not specified [RCV000038622] |
Chr12:21915915 [GRCh38]
Chr12:22068849 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.798T>C (p.Asp266=) |
single nucleotide variant |
Cardiomyopathy [RCV000769383]|Cardiovascular phenotype [RCV002415477]|Dilated cardiomyopathy 1O [RCV000229371]|not provided [RCV001697101]|not specified [RCV000038624] |
Chr12:21915686 [GRCh38]
Chr12:22068620 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.816+11G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001482677]|not specified [RCV000038625] |
Chr12:21915657 [GRCh38]
Chr12:22068591 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-7del |
deletion |
Cardiomyopathy [RCV000029283]|Dilated cardiomyopathy 1O [RCV000204077]|not provided [RCV001529420]|not specified [RCV000038626] |
Chr12:21913073 [GRCh38]
Chr12:22066007 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.918G>A (p.Leu306=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371838]|Dilated cardiomyopathy 1O [RCV000705107]|not specified [RCV000038627] |
Chr12:21912965 [GRCh38]
Chr12:22065899 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.924T>C (p.Asp308=) |
single nucleotide variant |
Cardiomyopathy [RCV000769381]|Dilated cardiomyopathy 1O [RCV000464771]|not provided [RCV001725949]|not specified [RCV000038628] |
Chr12:21912959 [GRCh38]
Chr12:22065893 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 |
copy number loss |
See cases [RCV000052776] |
Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22 |
pathogenic |
| GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 |
copy number loss |
See cases [RCV000052782] |
Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23 |
pathogenic |
| GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] |
Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 |
copy number gain |
See cases [RCV000053660] |
Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 |
copy number gain |
See cases [RCV000053662] |
Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 |
copy number gain |
See cases [RCV000053666] |
Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] |
Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1 |
pathogenic |
| NM_005691.3(ABCC9):c.2443G>A (p.Gly815Arg) |
single nucleotide variant |
Malignant melanoma [RCV000069943] |
Chr12:21859648 [GRCh38]
Chr12:22012582 [GRCh37]
Chr12:21903849 [NCBI36]
Chr12:12p12.1 |
not provided |
| NM_005691.3(ABCC9):c.330G>A (p.Met110Ile) |
single nucleotide variant |
Malignant melanoma [RCV000069944] |
Chr12:21926018 [GRCh38]
Chr12:22078952 [GRCh37]
Chr12:21970219 [NCBI36]
Chr12:12p12.1 |
not provided |
| NM_020297.3(ABCC9):c.4609G>A (p.Glu1537Lys) |
single nucleotide variant |
Malignant melanoma [RCV000062474] |
Chr12:21801085 [GRCh38]
Chr12:21954019 [GRCh37]
Chr12:21845286 [NCBI36]
Chr12:12p12.1 |
not provided |
| NM_005691.3(ABCC9):c.3474-2A>G |
single nucleotide variant |
Malignant melanoma [RCV000062475] |
Chr12:21838172 [GRCh38]
Chr12:21991106 [GRCh37]
Chr12:21882373 [NCBI36]
Chr12:12p12.1 |
not provided |
| NM_020297.4(ABCC9):c.1165-6dup |
duplication |
Cardiomyopathy [RCV000769379]|Dilated Cardiomyopathy, Dominant [RCV000302937]|Dilated cardiomyopathy 1O [RCV001088765]|Familial atrial fibrillation [RCV000406811]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000357777]|not provided [RCV000824727]|not specified [RCV000038582] |
Chr12:21910317..21910318 [GRCh38]
Chr12:22063251..22063252 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.52G>A (p.Gly18Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000660569] |
Chr12:21936623 [GRCh38]
Chr12:22089557 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.817-17C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002055387]|not specified [RCV000123449] |
Chr12:21913083 [GRCh38]
Chr12:22066017 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2475G>A (p.Ala825=) |
single nucleotide variant |
Cardiomyopathy [RCV001798409]|Cardiovascular phenotype [RCV002444584]|Dilated cardiomyopathy 1O [RCV001481756]|not specified [RCV000123458] |
Chr12:21859616 [GRCh38]
Chr12:22012550 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2643+17G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002055388]|not specified [RCV000123461] |
Chr12:21852351 [GRCh38]
Chr12:22005285 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3096+9G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002063194]|not specified [RCV000602839] |
Chr12:21845594 [GRCh38]
Chr12:21998528 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415726]|Dilated cardiomyopathy 1O [RCV001050168]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002478542]|not provided [RCV000171209] |
Chr12:21882807 [GRCh38]
Chr12:22035741 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.3520C>T (p.His1174Tyr) |
single nucleotide variant |
not provided [RCV000171207] |
Chr12:21838124 [GRCh38]
Chr12:21991058 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619654]|not provided [RCV000171208] |
Chr12:21848201 [GRCh38]
Chr12:22001135 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.3283C>T (p.Arg1095Cys) |
single nucleotide variant |
Atrial fibrillation, familial, 12 [RCV001332659]|Dilated cardiomyopathy 1O [RCV003770847] |
Chr12:21844515 [GRCh38]
Chr12:21997449 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2164A>G (p.Met722Val) |
single nucleotide variant |
not provided [RCV003221508] |
Chr12:21872659 [GRCh38]
Chr12:22025593 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1619-20C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002538394]|not specified [RCV001290590] |
Chr12:21895335 [GRCh38]
Chr12:22048269 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-343C>T |
single nucleotide variant |
not provided [RCV001572571] |
Chr12:21829403 [GRCh38]
Chr12:21982337 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.406+2111C>G |
single nucleotide variant |
not provided [RCV000171856] |
Chr12:21923831 [GRCh38]
Chr12:22076765 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+746_4512+747insT |
insertion |
Cardiomyopathy [RCV001798620]|Dilated cardiomyopathy 1O [RCV003619655]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000850523]|not provided [RCV000172508] |
Chr12:21805251..21805252 [GRCh38]
Chr12:21958185..21958186 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4512+745T>A |
single nucleotide variant |
not provided [RCV000172509] |
Chr12:21805253 [GRCh38]
Chr12:21958187 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.4512+744T>A |
single nucleotide variant |
not provided [RCV000172510] |
Chr12:21805254 [GRCh38]
Chr12:21958188 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.3955G>A (p.Val1319Ile) |
single nucleotide variant |
not provided [RCV000171849] |
Chr12:21815831 [GRCh38]
Chr12:21968765 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) |
single nucleotide variant |
Cardiomyopathy [RCV000769375]|Dilated cardiomyopathy 1O [RCV000465122]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002485098]|not provided [RCV000171850] |
Chr12:21829033 [GRCh38]
Chr12:21981967 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3299C>T (p.Thr1100Ile) |
single nucleotide variant |
not provided [RCV000171851] |
Chr12:21844499 [GRCh38]
Chr12:21997433 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002515254]|not provided [RCV000171852] |
Chr12:21848203 [GRCh38]
Chr12:22001137 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003765078]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002500446]|not provided [RCV000171853] |
Chr12:21864461 [GRCh38]
Chr12:22017395 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2066C>T (p.Ser689Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001852082]|not provided [RCV000171854] |
Chr12:21875680 [GRCh38]
Chr12:22028614 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001113776]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113775]|Inborn genetic diseases [RCV002515255]|not provided [RCV000171855] |
Chr12:21882804 [GRCh38]
Chr12:22035738 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433744]|Dilated cardiomyopathy 1O [RCV000529543]|not provided [RCV000171857] |
Chr12:21926061 [GRCh38]
Chr12:22078995 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 |
copy number loss |
See cases [RCV000135588] |
Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1 |
likely pathogenic |
| GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 |
copy number loss |
See cases [RCV000135620] |
Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 |
copy number gain |
See cases [RCV000136611] |
Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 |
copy number gain |
See cases [RCV000139052] |
Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 |
copy number gain |
See cases [RCV000139787] |
Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 |
copy number gain |
See cases [RCV000142149] |
Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.3288T>C (p.Phe1096=) |
single nucleotide variant |
ABCC9-related condition [RCV003907481]|Cardiovascular phenotype [RCV002321647]|Dilated cardiomyopathy 1O [RCV000861365]|not specified [RCV000155784] |
Chr12:21844510 [GRCh38]
Chr12:21997444 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr) |
single nucleotide variant |
Cardiomyopathy [RCV001798514]|Cardiovascular phenotype [RCV002433684]|Dilated cardiomyopathy 1O [RCV001850135]|not specified [RCV000155785] |
Chr12:21845767 [GRCh38]
Chr12:21998701 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001059036]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002505173]|Inborn genetic diseases [RCV002515002]|not provided [RCV002260997]|not specified [RCV000155866] |
Chr12:21915909 [GRCh38]
Chr12:22068843 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408660]|Dilated cardiomyopathy 1O [RCV001113781]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113780]|not specified [RCV000150120] |
Chr12:21887862 [GRCh38]
Chr12:22040796 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1012-7G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002516013]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000765080]|not specified [RCV000150121] |
Chr12:21910985 [GRCh38]
Chr12:22063919 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001306763]|not provided [RCV000766729]|not specified [RCV000150122] |
Chr12:21926059 [GRCh38]
Chr12:22078993 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.169C>T (p.Gln57Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509497]|not specified [RCV000150123] |
Chr12:21933897 [GRCh38]
Chr12:22086831 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.142+15dup |
duplication |
Dilated cardiomyopathy 1O [RCV002055951]|not provided [RCV001530143]|not specified [RCV000150124] |
Chr12:21936517..21936518 [GRCh38]
Chr12:22089451..22089452 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_020297.4(ABCC9):c.48C>T (p.Asn16=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336293]|Dilated cardiomyopathy 1O [RCV000461827]|not provided [RCV001528469]|not specified [RCV000150125] |
Chr12:21936627 [GRCh38]
Chr12:22089561 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.47A>G (p.Asn16Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000458476]|not specified [RCV000150126] |
Chr12:21936628 [GRCh38]
Chr12:22089562 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4365G>A (p.Gln1455=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001446552]|not specified [RCV000156103] |
Chr12:21807430 [GRCh38]
Chr12:21960364 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3315+4A>G |
single nucleotide variant |
not specified [RCV000156196] |
Chr12:21844479 [GRCh38]
Chr12:21997413 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4470A>G (p.Val1490=) |
single nucleotide variant |
not specified [RCV000156422] |
Chr12:21806040 [GRCh38]
Chr12:21958974 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.96C>T (p.Val32=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002516335]|not specified [RCV000156460] |
Chr12:21936579 [GRCh38]
Chr12:22089513 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1012-14del |
deletion |
Dilated cardiomyopathy 1O [RCV002053881]|not specified [RCV000156555] |
Chr12:21910992 [GRCh38]
Chr12:22063926 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.574-5= |
single nucleotide variant |
not specified [RCV000154426] |
Chr12:21915915 [GRCh38]
Chr12:22068849 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1296C>T (p.Pro432=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000474158]|not specified [RCV000154427] |
Chr12:21910181 [GRCh38]
Chr12:22063115 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354382]|Dilated cardiomyopathy 1O [RCV001850166]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002492598]|not specified [RCV000156632] |
Chr12:21925953 [GRCh38]
Chr12:22078887 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453510]|Dilated cardiomyopathy 1O [RCV000233741]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002483340]|not provided [RCV000767167]|not specified [RCV000154675] |
Chr12:21828958 [GRCh38]
Chr12:21981892 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162629]|Dilated cardiomyopathy 1O [RCV001062858]|not specified [RCV000154676] |
Chr12:21828959 [GRCh38]
Chr12:21981893 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) |
single nucleotide variant |
ABCC9-related condition [RCV003965149]|Cardiovascular phenotype [RCV002321637]|Dilated cardiomyopathy 1O [RCV000640335]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111875]|not provided [RCV001697146]|not specified [RCV000154677] |
Chr12:21842448 [GRCh38]
Chr12:21995382 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) |
single nucleotide variant |
ABCC9-related condition [RCV003945214]|Cardiovascular phenotype [RCV000617899]|Dilated cardiomyopathy 1O [RCV000862430]|not provided [RCV001719957]|not specified [RCV000154678] |
Chr12:21910277 [GRCh38]
Chr12:22063211 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) |
duplication |
Dilated cardiomyopathy 1O [RCV001857547]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002484956]|not provided [RCV000766287]|not specified [RCV000156786] |
Chr12:21812063..21812064 [GRCh38]
Chr12:21964997..21964998 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-13A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000379750]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000322633]|not specified [RCV000150117] |
Chr12:21848259 [GRCh38]
Chr12:22001193 [GRCh37]
Chr12:12p12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2644-11G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002055950]|not provided [RCV001704077]|not specified [RCV000150118] |
Chr12:21852233 [GRCh38]
Chr12:22005167 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2238-1G>A |
single nucleotide variant |
ABCC9-Related Disorders [RCV001111980]|ABCC9-related condition [RCV003945181]|Cardiomyopathy [RCV001170963]|Cardiovascular phenotype [RCV000622123]|Dilated cardiomyopathy 1O [RCV001081898]|not provided [RCV000172511]|not specified [RCV000150119] |
Chr12:21863055 [GRCh38]
Chr12:22015989 [GRCh37]
Chr12:12p12.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2199-6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000281682]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000321867]|not specified [RCV000156804] |
Chr12:21864483 [GRCh38]
Chr12:22017417 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4450-5dup |
duplication |
Cardiomyopathy [RCV001798513]|Dilated cardiomyopathy 1O [RCV000860783]|not provided [RCV001729417]|not specified [RCV000155631] |
Chr12:21806064..21806065 [GRCh38]
Chr12:21958998..21958999 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.4569T>C (p.Asn1523=) |
single nucleotide variant |
not specified [RCV000155690] |
Chr12:21801125 [GRCh38]
Chr12:21954059 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4157G>A (p.Arg1386His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003764985]|Primary familial hypertrophic cardiomyopathy [RCV000157089]|not provided [RCV003228907] |
Chr12:21812103 [GRCh38]
Chr12:21965037 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3460C>G (p.Arg1154Gly) |
single nucleotide variant |
not provided [RCV000254900] |
Chr12:21842327 [GRCh38]
Chr12:21995261 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.3604A>G (p.Thr1202Ala) |
single nucleotide variant |
not provided [RCV000183227] |
Chr12:21829023 [GRCh38]
Chr12:21981957 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3783T>A (p.Tyr1261Ter) |
single nucleotide variant |
not provided [RCV000183228] |
Chr12:21817296 [GRCh38]
Chr12:21970230 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1252G>A (p.Ala418Thr) |
single nucleotide variant |
not provided [RCV000183230] |
Chr12:21910225 [GRCh38]
Chr12:22063159 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408803]|Dilated cardiomyopathy 1O [RCV000797250]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002492822]|not provided [RCV000183231] |
Chr12:21887888 [GRCh38]
Chr12:22040822 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2019G>A (p.Lys673=) |
single nucleotide variant |
not provided [RCV000183232] |
Chr12:21882766 [GRCh38]
Chr12:22035700 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2197A>G (p.Asn733Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001056033]|not provided [RCV000183233] |
Chr12:21872626 [GRCh38]
Chr12:22025560 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_005691.3(ABCC9):c.3014A>T (p.His1005Leu) |
single nucleotide variant |
not provided [RCV000183234] |
Chr12:21845685 [GRCh38]
Chr12:21998619 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.3473+4A>G |
single nucleotide variant |
not provided [RCV000183236] |
Chr12:21842310 [GRCh38]
Chr12:21995244 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3557G>A (p.Arg1186Gln) |
single nucleotide variant |
not provided [RCV000183237] |
Chr12:21838087 [GRCh38]
Chr12:21991021 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3896C>T (p.Pro1299Leu) |
single nucleotide variant |
not provided [RCV000183238] |
Chr12:21815890 [GRCh38]
Chr12:21968824 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3201del (p.Leu1068fs) |
deletion |
not provided [RCV000183239] |
Chr12:21844811 [GRCh38]
Chr12:21997745 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV000180286] |
Chr12:22063251..22063252 [GRCh37] |
uncertain significance |
| NM_020297.4(ABCC9):c.285-16G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002054174]|not provided [RCV001529135]|not specified [RCV000183225] |
Chr12:21926079 [GRCh38]
Chr12:22079013 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) |
single nucleotide variant |
Cardiomyopathy [RCV000770397]|Cardiovascular phenotype [RCV000617796]|Dilated cardiomyopathy 1O [RCV000475996]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000261420]|not specified [RCV000183226] |
Chr12:21848190 [GRCh38]
Chr12:22001124 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4512+777G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002336434]|Dilated cardiomyopathy 1O [RCV001337967]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002485164]|not provided [RCV000177943] |
Chr12:21805221 [GRCh38]
Chr12:21958155 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 |
copy number gain |
See cases [RCV000240164] |
Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.3650G>A (p.Arg1217Lys) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000656401] |
Chr12:21828977 [GRCh38]
Chr12:21981911 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.3772-4A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000548465] |
Chr12:21817311 [GRCh38]
Chr12:21970245 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1985T>C (p.Leu662Pro) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000208057] |
Chr12:21882800 [GRCh38]
Chr12:22035734 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4637G>T (p.Arg1546Leu) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000208118] |
Chr12:21801057 [GRCh38]
Chr12:21953991 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1884del (p.Phe628fs) |
deletion |
Arrhythmogenic right ventricular cardiomyopathy [RCV000208233] |
Chr12:21887853 [GRCh38]
Chr12:22040787 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000208244] |
Chr12:21844514 [GRCh38]
Chr12:21997448 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT |
indel |
Arrhythmogenic right ventricular cardiomyopathy [RCV000449617]|Cardiovascular phenotype [RCV000617732]|Dilated cardiomyopathy 1O [RCV000470248]|Primary dilated cardiomyopathy [RCV000208420]|not provided [RCV000786079]|not specified [RCV000601900] |
Chr12:21805252..21805254 [GRCh38]
Chr12:21958186..21958188 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2663G>T (p.Gly888Val) |
single nucleotide variant |
Breast ductal adenocarcinoma [RCV000207134] |
Chr12:21852203 [GRCh38]
Chr12:22005137 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.*5G>C |
single nucleotide variant |
not specified [RCV000219546] |
Chr12:21801039 [GRCh38]
Chr12:21953973 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2547T>C (p.His849=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426995]|Dilated cardiomyopathy 1O [RCV001447367]|not specified [RCV000219714] |
Chr12:21852464 [GRCh38]
Chr12:22005398 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.406+14C>G |
single nucleotide variant |
not specified [RCV000213223] |
Chr12:21925928 [GRCh38]
Chr12:22078862 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3993C>T (p.His1331=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354595]|Dilated cardiomyopathy 1O [RCV000458239]|not provided [RCV001727638]|not specified [RCV000217513] |
Chr12:21815793 [GRCh38]
Chr12:21968727 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=) |
single nucleotide variant |
ABCC9-related condition [RCV003897462]|Cardiovascular phenotype [RCV000247975]|Dilated cardiomyopathy 1O [RCV000458152]|not provided [RCV001722155]|not specified [RCV000213474] |
Chr12:21845669 [GRCh38]
Chr12:21998603 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2157C>T (p.Leu719=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431611]|Dilated cardiomyopathy 1O [RCV000552042]|not provided [RCV001561699]|not specified [RCV001449784] |
Chr12:21872666 [GRCh38]
Chr12:22025600 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+765C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002338678]|Dilated cardiomyopathy 1O [RCV000474358]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002500706]|not provided [RCV001551013]|not specified [RCV000215884] |
Chr12:21805233 [GRCh38]
Chr12:21958167 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) |
single nucleotide variant |
Cardiomyopathy [RCV000769374]|Cardiovascular phenotype [RCV002354594]|Dilated cardiomyopathy 1O [RCV000536972]|not provided [RCV001697179]|not specified [RCV000220794] |
Chr12:21818192 [GRCh38]
Chr12:21971126 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.852T>A (p.Ser284=) |
single nucleotide variant |
ABCC9-related condition [RCV003907802]|Cardiovascular phenotype [RCV002444852]|Dilated cardiomyopathy 1O [RCV001394833]|not specified [RCV000220885] |
Chr12:21913031 [GRCh38]
Chr12:22065965 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3474-14C>T |
single nucleotide variant |
not specified [RCV000216451] |
Chr12:21838184 [GRCh38]
Chr12:21991118 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-13G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002057164]|not provided [RCV000786076]|not specified [RCV000214647] |
Chr12:21864490 [GRCh38]
Chr12:22017424 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1933A>G (p.Lys645Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640320]|not specified [RCV000221331] |
Chr12:21882852 [GRCh38]
Chr12:22035786 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1212C>T (p.Ser404=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354593]|Dilated cardiomyopathy 1O [RCV000640340]|not provided [RCV001582725]|not specified [RCV000216754] |
Chr12:21910265 [GRCh38]
Chr12:22063199 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+693G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002338677]|Dilated cardiomyopathy 1O [RCV000689280]|not specified [RCV000223194] |
Chr12:21805305 [GRCh38]
Chr12:21958239 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1164+10G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003765359]|not specified [RCV000223300] |
Chr12:21910816 [GRCh38]
Chr12:22063750 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.-14_-8del |
deletion |
not specified [RCV000221594] |
Chr12:21936682..21936688 [GRCh38]
Chr12:22089616..22089622 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3316-4A>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002321879]|Dilated cardiomyopathy 1O [RCV000228445]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112338] |
Chr12:21842475 [GRCh38]
Chr12:21995409 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4353T>C (p.Val1451=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327131]|Dilated cardiomyopathy 1O [RCV000231408] |
Chr12:21807442 [GRCh38]
Chr12:21960376 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.826G>A (p.Ala276Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254529]|Dilated cardiomyopathy 1O [RCV002516212]|not specified [RCV000223814] |
Chr12:21913057 [GRCh38]
Chr12:22065991 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1165-2A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000230989] |
Chr12:21910314 [GRCh38]
Chr12:22063248 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1043T>G (p.Leu348Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252786]|not specified [RCV000223730] |
Chr12:21910947 [GRCh38]
Chr12:22063881 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1012-1G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000227165] |
Chr12:21910979 [GRCh38]
Chr12:22063913 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2630C>T (p.Thr877Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000233942] |
Chr12:21852381 [GRCh38]
Chr12:22005315 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000227266]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002487076] |
Chr12:21882810 [GRCh38]
Chr12:22035744 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3095A>G (p.Gln1032Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000234747] |
Chr12:21845604 [GRCh38]
Chr12:21998538 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1616C>G (p.Ser539Cys) |
single nucleotide variant |
not provided [RCV000756943] |
Chr12:21906128 [GRCh38]
Chr12:22059062 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2848A>T (p.Met950Leu) |
single nucleotide variant |
not provided [RCV000756945] |
Chr12:21848168 [GRCh38]
Chr12:22001102 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372773]|Dilated cardiomyopathy 1O [RCV001059888]|Primary familial dilated cardiomyopathy [RCV000623111]|not provided [RCV001559060] |
Chr12:21887878 [GRCh38]
Chr12:22040812 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1577T>G (p.Leu526Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000526529]|not provided [RCV002223863] |
Chr12:21906167 [GRCh38]
Chr12:22059101 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+778C>A |
single nucleotide variant |
Hypertrophic cardiomyopathy [RCV000999582] |
Chr12:21805220 [GRCh38]
Chr12:21958154 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.337G>A (p.Val113Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457964]|Dilated cardiomyopathy 1O [RCV003619714]|Primary familial dilated cardiomyopathy [RCV000622569] |
Chr12:21926011 [GRCh38]
Chr12:22078945 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+28A>C |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548806]|not provided [RCV000830237]|not specified [RCV000248671] |
Chr12:21852069 [GRCh38]
Chr12:22005003 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.406+38A>C |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548919]|not provided [RCV001651238]|not specified [RCV000253614] |
Chr12:21925904 [GRCh38]
Chr12:22078838 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1320+1G>A |
single nucleotide variant |
ABCC9-Related Disorders [RCV000779100]|Cardiovascular phenotype [RCV000253734]|Dilated cardiomyopathy 1O [RCV001859471]|Intellectual disability and myopathy syndrome [RCV001820797]|not provided [RCV000578802] |
Chr12:21910156 [GRCh38]
Chr12:22063090 [GRCh37]
Chr12:12p12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.971G>A (p.Arg324His) |
single nucleotide variant |
Cardiovascular phenotype [RCV000241661]|Dilated cardiomyopathy 1O [RCV001854988]|not provided [RCV003137866] |
Chr12:21912912 [GRCh38]
Chr12:22065846 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000241674]|not specified [RCV003230467] |
Chr12:21845623 [GRCh38]
Chr12:21998557 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1164+23= |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548915]|not provided [RCV001689897]|not specified [RCV000246623] |
Chr12:21910803 [GRCh38]
Chr12:22063737 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2340-4A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001493822] |
Chr12:21861059 [GRCh38]
Chr12:22013993 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3057A>G (p.Thr1019=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000244603] |
Chr12:21845642 [GRCh38]
Chr12:21998576 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+710T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001494277] |
Chr12:21805288 [GRCh38]
Chr12:21958222 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2238-4T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV000249910]|Dilated cardiomyopathy 1O [RCV003765553] |
Chr12:21863058 [GRCh38]
Chr12:22015992 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1011+100dup |
duplication |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548917]|not provided [RCV001694088] |
Chr12:21912765..21912766 [GRCh38]
Chr12:22065699..22065700 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1919A>G (p.Lys640Arg) |
single nucleotide variant |
not provided [RCV000521874] |
Chr12:21882866 [GRCh38]
Chr12:22035800 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 |
copy number gain |
See cases [RCV000240487] |
Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.2355A>T (p.Thr785=) |
single nucleotide variant |
not specified [RCV000247633] |
Chr12:21861040 [GRCh38]
Chr12:22013974 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1660-43C>A |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548808]|not provided [RCV001610712]|not specified [RCV000243169] |
Chr12:21894217 [GRCh38]
Chr12:22047151 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2238-17del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000379853]|Dilated cardiomyopathy 1O [RCV002056285]|Familial atrial fibrillation [RCV000325196]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000266793]|not provided [RCV001705462]|not specified [RCV000600796] |
Chr12:21863071 [GRCh38]
Chr12:22016005 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.669G>T (p.Leu223=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000399119]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000285671] |
Chr12:21915815 [GRCh38]
Chr12:22068749 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+12T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000345025]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000287591] |
Chr12:21852085 [GRCh38]
Chr12:22005019 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln) |
single nucleotide variant |
Cardiomyopathy [RCV001171151]|Dilated cardiomyopathy 1O [RCV000289105]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000380097]|not provided [RCV001699302] |
Chr12:21913041 [GRCh38]
Chr12:22065975 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1992C>T (p.Pro664=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418160]|Dilated cardiomyopathy 1O [RCV000312335]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000351877] |
Chr12:21882793 [GRCh38]
Chr12:22035727 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1332C>T (p.Gly444=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379184]|Dilated cardiomyopathy 1O [RCV000467021]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000295621] |
Chr12:21908200 [GRCh38]
Chr12:22061134 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1165-7_1165-6del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000259993]|Familial atrial fibrillation [RCV000369803]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000333783]|not provided [RCV000860810]|not specified [RCV001699439] |
Chr12:21910318..21910319 [GRCh38]
Chr12:22063252..22063253 [GRCh37]
Chr12:12p12.1 |
benign|uncertain significance |
| NM_020297.4(ABCC9):c.75T>C (p.Phe25=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392848]|Dilated cardiomyopathy 1O [RCV000372522]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000296553] |
Chr12:21936600 [GRCh38]
Chr12:22089534 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1659+10T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000264612]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000320105]|not specified [RCV000605396] |
Chr12:21895265 [GRCh38]
Chr12:22048199 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2238-16del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000270387]|Familial atrial fibrillation [RCV000364966]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000310171] |
Chr12:21863070 [GRCh38]
Chr12:22016004 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.146G>C (p.Trp49Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000281417]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000320964] |
Chr12:21933920 [GRCh38]
Chr12:22086854 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3669+10T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000406744]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000365498] |
Chr12:21828948 [GRCh38]
Chr12:21981882 [GRCh37]
Chr12:12p12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450856]|Dilated cardiomyopathy 1O [RCV000265735]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000324568] |
Chr12:21925982 [GRCh38]
Chr12:22078916 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.970C>T (p.Arg324Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374455]|Dilated cardiomyopathy 1O [RCV000554362]|not provided [RCV000293914] |
Chr12:21912913 [GRCh38]
Chr12:22065847 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1670C>G (p.Thr557Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000362847]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000268147] |
Chr12:21894164 [GRCh38]
Chr12:22047098 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.878T>C (p.Phe293Ser) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000408624] |
Chr12:21913005 [GRCh38]
Chr12:22065939 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) |
single nucleotide variant |
ABCC9-related condition [RCV003925422]|Cardiovascular phenotype [RCV002446952]|Dilated cardiomyopathy 1O [RCV001087263]|not provided [RCV000767047]|not specified [RCV000490221] |
Chr12:21926043 [GRCh38]
Chr12:22078977 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001065670]|not provided [RCV000519771]|not specified [RCV001193519] |
Chr12:21845629 [GRCh38]
Chr12:21998563 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1942G>C (p.Gly648Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000526827] |
Chr12:21882843 [GRCh38]
Chr12:22035777 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3572A>G (p.Glu1191Gly) |
single nucleotide variant |
not provided [RCV000523283] |
Chr12:21829055 [GRCh38]
Chr12:21981989 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3346C>G (p.Arg1116Gly) |
single nucleotide variant |
not provided [RCV002292853] |
Chr12:21842441 [GRCh38]
Chr12:21995375 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.2557G>A (p.Glu853Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001067581]|not provided [RCV000523046] |
Chr12:21852454 [GRCh38]
Chr12:22005388 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4316-14T>G |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000401822]|Familial atrial fibrillation [RCV000285825]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000343054] |
Chr12:21807493 [GRCh38]
Chr12:21960427 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.466T>C (p.Cys156Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000351815]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000296963]|not provided [RCV002307483] |
Chr12:21917044 [GRCh38]
Chr12:22069978 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1165-4del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000287517]|Familial atrial fibrillation [RCV000401977]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000342593] |
Chr12:21910316 [GRCh38]
Chr12:22063250 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341563]|Dilated cardiomyopathy 1O [RCV002529541]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002506461]|not provided [RCV001697542] |
Chr12:21842325 [GRCh38]
Chr12:21995259 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.6C>T (p.Ser2=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368097]|Dilated cardiomyopathy 1O [RCV001112620]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112619]|not specified [RCV000605371] |
Chr12:21936669 [GRCh38]
Chr12:22089603 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.2703C>T (p.Thr901=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002529487]|not specified [RCV000605392] |
Chr12:21852163 [GRCh38]
Chr12:22005097 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3556C>T (p.Arg1186Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000312032]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000406748] |
Chr12:21838088 [GRCh38]
Chr12:21991022 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.928C>T (p.Leu310=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617286]|Dilated cardiomyopathy 1O [RCV001451511]|not specified [RCV003117427] |
Chr12:21912955 [GRCh38]
Chr12:22065889 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.3772-16T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002529391]|not specified [RCV000606886] |
Chr12:21817323 [GRCh38]
Chr12:21970257 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2784C>G (p.Asp928Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438364]|Dilated cardiomyopathy 1O [RCV000553400] |
Chr12:21848232 [GRCh38]
Chr12:22001166 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3772-10C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619699]|not provided [RCV000588401] |
Chr12:21817317 [GRCh38]
Chr12:21970251 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2965G>A (p.Gly989Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000806291] |
Chr12:21845734 [GRCh38]
Chr12:21998668 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.599_601delinsCTG (p.Gln200_Lys201delinsProGlu) |
indel |
not specified [RCV000522290] |
Chr12:21915883..21915885 [GRCh38]
Chr12:22068817..22068819 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.136T>C (p.Phe46Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640319] |
Chr12:21936539 [GRCh38]
Chr12:22089473 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1524T>C (p.Tyr508=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640334] |
Chr12:21906220 [GRCh38]
Chr12:22059154 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1374C>T (p.Val458=) |
single nucleotide variant |
ABCC9-related condition [RCV003905727]|Cardiovascular phenotype [RCV002386058]|Dilated cardiomyopathy 1O [RCV001110550]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001110551] |
Chr12:21908158 [GRCh38]
Chr12:22061092 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1011+7T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640344] |
Chr12:21912865 [GRCh38]
Chr12:22065799 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3063G>A (p.Glu1021=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619698]|not specified [RCV000586964] |
Chr12:21845636 [GRCh38]
Chr12:21998570 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640322]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002507090]|not provided [RCV002464276] |
Chr12:21848151 [GRCh38]
Chr12:22001085 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2500T>C (p.Phe834Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424436]|Dilated cardiomyopathy 1O [RCV000640325] |
Chr12:21859591 [GRCh38]
Chr12:22012525 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1416T>C (p.Phe472=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388069]|Dilated cardiomyopathy 1O [RCV000640342]|not provided [RCV001702536]|not specified [RCV001700432] |
Chr12:21908116 [GRCh38]
Chr12:22061050 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1879C>G (p.Pro627Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413523]|Dilated cardiomyopathy 1O [RCV000539256] |
Chr12:21887858 [GRCh38]
Chr12:22040792 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1988G>A (p.Arg663His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418236]|Dilated cardiomyopathy 1O [RCV000862251]|not specified [RCV000413839] |
Chr12:21882797 [GRCh38]
Chr12:22035731 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 |
copy number gain |
See cases [RCV000449191] |
Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 |
copy number gain |
See cases [RCV000449287] |
Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh37/hg19 12p12.1(chr12:22023587-22086710)x1 |
copy number loss |
See cases [RCV000449230] |
Chr12:22023587..22086710 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
See cases [RCV000447551] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.2607G>A (p.Val869=) |
single nucleotide variant |
not specified [RCV000444979] |
Chr12:21852404 [GRCh38]
Chr12:22005338 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.407-13T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002062502]|not provided [RCV001703715]|not specified [RCV002222506] |
Chr12:21917116 [GRCh38]
Chr12:22070050 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2019+14C>T |
single nucleotide variant |
not specified [RCV000445335] |
Chr12:21882752 [GRCh38]
Chr12:22035686 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2339+17A>T |
single nucleotide variant |
not specified [RCV000431694] |
Chr12:21862936 [GRCh38]
Chr12:22015870 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1501G>A (p.Gly501Ser) |
single nucleotide variant |
not provided [RCV000442007] |
Chr12:21906243 [GRCh38]
Chr12:22059177 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.*19T>C |
single nucleotide variant |
not provided [RCV001528924]|not specified [RCV000428222] |
Chr12:21801025 [GRCh38]
Chr12:21953959 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.3814C>G (p.Leu1272Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002526348]|not provided [RCV000418651] |
Chr12:21817265 [GRCh38]
Chr12:21970199 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2198+6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002525419]|not provided [RCV000418674] |
Chr12:21872619 [GRCh38]
Chr12:22025553 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2608A>T (p.Thr870Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372704]|Dilated cardiomyopathy 1O [RCV001865343]|not provided [RCV000421316] |
Chr12:21852403 [GRCh38]
Chr12:22005337 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1455T>G (p.Leu485=) |
single nucleotide variant |
not specified [RCV000418944] |
Chr12:21908077 [GRCh38]
Chr12:22061011 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3246-10T>C |
single nucleotide variant |
not specified [RCV000428705] |
Chr12:21844562 [GRCh38]
Chr12:21997496 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+16C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002061324]|not provided [RCV001810878]|not specified [RCV000439158] |
Chr12:21805982 [GRCh38]
Chr12:21958916 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.3097-15T>A |
single nucleotide variant |
not specified [RCV000419064] |
Chr12:21844930 [GRCh38]
Chr12:21997864 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3739T>C (p.Leu1247=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002059591]|not specified [RCV000428788] |
Chr12:21818182 [GRCh38]
Chr12:21971116 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620662]|Dilated cardiomyopathy 1O [RCV000548252]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002502574]|not provided [RCV000428844] |
Chr12:21829037 [GRCh38]
Chr12:21981971 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3831T>A (p.Gly1277=) |
single nucleotide variant |
Cardiomyopathy [RCV001798816]|Cardiovascular phenotype [RCV002365573]|Dilated cardiomyopathy 1O [RCV001414421]|not specified [RCV000428858] |
Chr12:21817248 [GRCh38]
Chr12:21970182 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3309T>A (p.Ile1103=) |
single nucleotide variant |
not specified [RCV000435701] |
Chr12:21844489 [GRCh38]
Chr12:21997423 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001042447]|not provided [RCV000419299] |
Chr12:21844791 [GRCh38]
Chr12:21997725 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4407T>G (p.Ile1469Met) |
single nucleotide variant |
not provided [RCV000426029] |
Chr12:21807388 [GRCh38]
Chr12:21960322 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.3347G>T (p.Arg1116Leu) |
single nucleotide variant |
not provided [RCV000426515] |
Chr12:21842440 [GRCh38]
Chr12:21995374 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.4188A>G (p.Pro1396=) |
single nucleotide variant |
not provided [RCV001721398] |
Chr12:21812072 [GRCh38]
Chr12:21965006 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.231C>T (p.Phe77=) |
single nucleotide variant |
not specified [RCV000429330] |
Chr12:21933835 [GRCh38]
Chr12:22086769 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2093-7T>G |
single nucleotide variant |
not provided [RCV001720252] |
Chr12:21872737 [GRCh38]
Chr12:22025671 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.142+19T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002059767]|not provided [RCV001529810]|not specified [RCV000429651] |
Chr12:21936514 [GRCh38]
Chr12:22089448 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451057]|Dilated cardiomyopathy 1O [RCV002522720]|Hypertrichotic osteochondrodysplasia Cantu type [RCV003224282]|not provided [RCV000420026] |
Chr12:21859621 [GRCh38]
Chr12:22012555 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1638T>C (p.Ile546=) |
single nucleotide variant |
not specified [RCV000422667] |
Chr12:21895296 [GRCh38]
Chr12:22048230 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.574-18G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002062384]|not specified [RCV000429883] |
Chr12:21915928 [GRCh38]
Chr12:22068862 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 |
copy number gain |
See cases [RCV000446008] |
Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23 |
pathogenic |
| NM_020297.4(ABCC9):c.324C>T (p.Ala108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298438]|Dilated cardiomyopathy 1O [RCV001409883]|not specified [RCV000429912] |
Chr12:21926024 [GRCh38]
Chr12:22078958 [GRCh37]
Chr12:12p12.1 |
likely benign |
| GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) |
copy number gain |
See cases [RCV000446017] |
Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.142+10C>A |
single nucleotide variant |
Cardiomyopathy [RCV001798798]|Dilated cardiomyopathy 1O [RCV000864379]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002488870]|not specified [RCV000426612] |
Chr12:21936523 [GRCh38]
Chr12:22089457 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1619-7T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000474391]|not provided [RCV001720122] |
Chr12:21895322 [GRCh38]
Chr12:22048256 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2457A>G (p.Arg819=) |
single nucleotide variant |
not specified [RCV000427031] |
Chr12:21859634 [GRCh38]
Chr12:22012568 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4344T>C (p.Asn1448=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328910]|Dilated cardiomyopathy 1O [RCV000470833]|not provided [RCV001712178]|not specified [RCV003230492] |
Chr12:21807451 [GRCh38]
Chr12:21960385 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.284+14G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002062501]|not specified [RCV000444675] |
Chr12:21933768 [GRCh38]
Chr12:22086702 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2378A>T (p.Asp793Val) |
single nucleotide variant |
not provided [RCV000441926] |
Chr12:21861017 [GRCh38]
Chr12:22013951 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 |
copy number gain |
See cases [RCV000448036] |
Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.2408C>T (p.Thr803Ile) |
single nucleotide variant |
ABCC9-related condition [RCV003401484]|Dilated cardiomyopathy 1O [RCV000456615] |
Chr12:21860987 [GRCh38]
Chr12:22013921 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.817-14_817-4del |
microsatellite |
Cardiomyopathy [RCV000769382]|Dilated cardiomyopathy 1O [RCV000463218]|not specified [RCV003235237] |
Chr12:21913070..21913080 [GRCh38]
Chr12:22066004..22066014 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3440A>G (p.Tyr1147Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000463262] |
Chr12:21842347 [GRCh38]
Chr12:21995281 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.215G>A (p.Arg72Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429531]|Dilated cardiomyopathy 1O [RCV000466921] |
Chr12:21933851 [GRCh38]
Chr12:22086785 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3994G>A (p.Val1332Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374801]|Dilated cardiomyopathy 1O [RCV000459841] |
Chr12:21815792 [GRCh38]
Chr12:21968726 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2045G>A (p.Gly682Asp) |
single nucleotide variant |
Cardiomyopathy [RCV001170965]|Cardiovascular phenotype [RCV002418413]|Dilated cardiomyopathy 1O [RCV000471137] |
Chr12:21875701 [GRCh38]
Chr12:22028635 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000474937]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002496784]|not provided [RCV000756944] |
Chr12:21852412 [GRCh38]
Chr12:22005346 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323806]|Dilated cardiomyopathy 1O [RCV001080261]|not provided [RCV000456393]|not specified [RCV001805093] |
Chr12:21842456 [GRCh38]
Chr12:21995390 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1817A>C (p.Asn606Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411500]|Dilated cardiomyopathy 1O [RCV000460266] |
Chr12:21887920 [GRCh38]
Chr12:22040854 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1127C>T (p.Thr376Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000476328] |
Chr12:21910863 [GRCh38]
Chr12:22063797 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3841_3842delinsGT (p.Lys1281Val) |
indel |
not provided [RCV000481716] |
Chr12:21817237..21817238 [GRCh38]
Chr12:21970171..21970172 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2927A>T (p.Lys976Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001087332]|not provided [RCV000486310] |
Chr12:21845772 [GRCh38]
Chr12:21998706 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4497C>T (p.Thr1499=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000461598] |
Chr12:21806013 [GRCh38]
Chr12:21958947 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893-3C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003298498]|Dilated cardiomyopathy 1O [RCV000472795] |
Chr12:21815896 [GRCh38]
Chr12:21968830 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339178]|Dilated cardiomyopathy 1O [RCV001087357]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109591]|not provided [RCV000786077] |
Chr12:21829038 [GRCh38]
Chr12:21981972 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.1375G>A (p.Gly459Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000461842]|not provided [RCV003228934] |
Chr12:21908157 [GRCh38]
Chr12:22061091 [GRCh37]
Chr12:12p12.1 |
pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.377A>G (p.Glu126Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000469489] |
Chr12:21925971 [GRCh38]
Chr12:22078905 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1385T>C (p.Val462Ala) |
single nucleotide variant |
not provided [RCV000486887] |
Chr12:21908147 [GRCh38]
Chr12:22061081 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala) |
single nucleotide variant |
not provided [RCV000487267] |
Chr12:21828990 [GRCh38]
Chr12:21981924 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.3982G>A (p.Val1328Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000466399] |
Chr12:21815804 [GRCh38]
Chr12:21968738 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3267G>A (p.Leu1089=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446903]|Dilated cardiomyopathy 1O [RCV000469961] |
Chr12:21844531 [GRCh38]
Chr12:21997465 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3656T>G (p.Leu1219Arg) |
single nucleotide variant |
not provided [RCV000480387] |
Chr12:21828971 [GRCh38]
Chr12:21981905 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.1305G>A (p.Trp435Ter) |
single nucleotide variant |
not provided [RCV000498694] |
Chr12:21910172 [GRCh38]
Chr12:22063106 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_020297.4(ABCC9):c.881G>A (p.Gly294Glu) |
single nucleotide variant |
not specified [RCV000504050] |
Chr12:21913002 [GRCh38]
Chr12:22065936 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2878G>C (p.Glu960Gln) |
single nucleotide variant |
Prolonged QT interval [RCV000497552] |
Chr12:21845821 [GRCh38]
Chr12:21998755 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1618+2T>G |
single nucleotide variant |
not provided [RCV000497369] |
Chr12:21906124 [GRCh38]
Chr12:22059058 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4492C>T (p.Arg1498Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001857026]|not provided [RCV000497884] |
Chr12:21806018 [GRCh38]
Chr12:21958952 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+745dup |
duplication |
not specified [RCV000508315] |
Chr12:21805252..21805253 [GRCh38]
Chr12:21958190 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2951G>A (p.Arg984His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001305124]|not provided [RCV000494347] |
Chr12:21845748 [GRCh38]
Chr12:21998682 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.614C>T (p.Pro205Leu) |
single nucleotide variant |
not specified [RCV000506718] |
Chr12:21915870 [GRCh38]
Chr12:22068804 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 |
copy number gain |
See cases [RCV000511580] |
Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
likely pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_020297.4(ABCC9):c.1911+2T>C |
single nucleotide variant |
not provided [RCV000492869] |
Chr12:21887824 [GRCh38]
Chr12:22040758 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 |
copy number gain |
See cases [RCV000510961] |
Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22 |
pathogenic |
| NM_020297.4(ABCC9):c.4014T>C (p.Pro1338=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377079]|Dilated cardiomyopathy 1O [RCV000541748] |
Chr12:21815772 [GRCh38]
Chr12:21968706 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2019+2T>C |
single nucleotide variant |
Wolff-Parkinson-White pattern [RCV000656167] |
Chr12:21882764 [GRCh38]
Chr12:22035698 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.2524C>T (p.Leu842=) |
single nucleotide variant |
not specified [RCV000602617] |
Chr12:21852487 [GRCh38]
Chr12:22005421 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2769+13A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002063321]|not specified [RCV000601454] |
Chr12:21852084 [GRCh38]
Chr12:22005018 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3018G>A (p.Ser1006=) |
single nucleotide variant |
ABCC9-related condition [RCV003905662]|Cardiovascular phenotype [RCV000617968]|Dilated cardiomyopathy 1O [RCV000865970] |
Chr12:21845681 [GRCh38]
Chr12:21998615 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3315+6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000534274] |
Chr12:21844477 [GRCh38]
Chr12:21997411 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2574C>T (p.Phe858=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640331] |
Chr12:21852437 [GRCh38]
Chr12:22005371 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160074]|Dilated cardiomyopathy 1O [RCV000823019]|not provided [RCV001722562]|not specified [RCV003226338] |
Chr12:21805998 [GRCh38]
Chr12:21958932 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.4102+17A>T |
single nucleotide variant |
not specified [RCV000603573] |
Chr12:21814627 [GRCh38]
Chr12:21967561 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4535C>T (p.Thr1512Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000578509] |
Chr12:21801159 [GRCh38]
Chr12:21954093 [GRCh37]
Chr12:12p12.1 |
not provided |
| NM_020297.4(ABCC9):c.3222_3233delinsCC (p.Lys1075fs) |
indel |
not provided [RCV003313673] |
Chr12:21844779..21844790 [GRCh38]
Chr12:21997713..21997724 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2867-4G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003296971] |
Chr12:21845836 [GRCh38]
Chr12:21998770 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.133T>C (p.Leu45=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385916]|Dilated cardiomyopathy 1O [RCV001110637]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001110638]|not specified [RCV000602977] |
Chr12:21936542 [GRCh38]
Chr12:22089476 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.256G>C (p.Glu86Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617768]|Dilated cardiomyopathy 1O [RCV001346344] |
Chr12:21933810 [GRCh38]
Chr12:22086744 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002440279]|Dilated cardiomyopathy 1O [RCV000640326]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002483828]|not provided [RCV003229851] |
Chr12:21848159 [GRCh38]
Chr12:22001093 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2011G>A (p.Ala671Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420740]|Dilated cardiomyopathy 1O [RCV000640327]|not provided [RCV003139967] |
Chr12:21882774 [GRCh38]
Chr12:22035708 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3999G>A (p.Lys1333=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640333] |
Chr12:21815787 [GRCh38]
Chr12:21968721 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-19_3567-13del |
deletion |
Dilated cardiomyopathy 1O [RCV002531576]|not specified [RCV000612355] |
Chr12:21829073..21829079 [GRCh38]
Chr12:21982007..21982013 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1619-10C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002529524]|not specified [RCV000612371] |
Chr12:21895325 [GRCh38]
Chr12:22048259 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2092+5G>A |
single nucleotide variant |
not specified [RCV000605752] |
Chr12:21875649 [GRCh38]
Chr12:22028583 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+691G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000617681]|Dilated cardiomyopathy 1O [RCV001860376] |
Chr12:21805307 [GRCh38]
Chr12:21958241 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+7A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000820193]|not provided [RCV001700165]|not specified [RCV000615941] |
Chr12:21805991 [GRCh38]
Chr12:21958925 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) |
single nucleotide variant |
Cardiomyopathy [RCV000769377]|Cardiovascular phenotype [RCV000618171]|Dilated cardiomyopathy 1O [RCV000640332]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111874]|not provided [RCV001707774]|not specified [RCV003235307] |
Chr12:21842430 [GRCh38]
Chr12:21995364 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4211+10A>G |
single nucleotide variant |
not specified [RCV000601910] |
Chr12:21812039 [GRCh38]
Chr12:21964973 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1425A>G (p.Thr475=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001406114]|not specified [RCV000616060] |
Chr12:21908107 [GRCh38]
Chr12:22061041 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4018C>T (p.Gln1340Ter) |
single nucleotide variant |
not provided [RCV003312222] |
Chr12:21815768 [GRCh38]
Chr12:21968702 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4320G>A (p.Ala1440=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331051]|Dilated cardiomyopathy 1O [RCV001860295]|not specified [RCV000610274] |
Chr12:21807475 [GRCh38]
Chr12:21960409 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2856C>T (p.Asp952=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438605]|Dilated cardiomyopathy 1O [RCV000640337]|not specified [RCV000610289] |
Chr12:21848160 [GRCh38]
Chr12:22001094 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.837A>G (p.Pro279=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302934]|Dilated cardiomyopathy 1O [RCV000640341]|not provided [RCV001697439] |
Chr12:21913046 [GRCh38]
Chr12:22065980 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1803T>C (p.Ser601=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003296006]|Dilated cardiomyopathy 1O [RCV003509793] |
Chr12:21887934 [GRCh38]
Chr12:22040868 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1381G>C (p.Ala461Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386057]|Dilated cardiomyopathy 1O [RCV000640330] |
Chr12:21908151 [GRCh38]
Chr12:22061085 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2022C>T (p.Val674=) |
single nucleotide variant |
not specified [RCV000610538] |
Chr12:21875724 [GRCh38]
Chr12:22028658 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1062A>G (p.Leu354=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002531175]|not specified [RCV000610677] |
Chr12:21910928 [GRCh38]
Chr12:22063862 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+13_816+14del |
deletion |
not specified [RCV000613396] |
Chr12:21915654..21915655 [GRCh38]
Chr12:22068588..22068589 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+10C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001505814]|not specified [RCV000613424] |
Chr12:21915658 [GRCh38]
Chr12:22068592 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3566+15T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002064370]|not specified [RCV000613545] |
Chr12:21838063 [GRCh38]
Chr12:21990997 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.573+19T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003117414]|not specified [RCV000600840] |
Chr12:21916918 [GRCh38]
Chr12:22069852 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4332A>G (p.Glu1444=) |
single nucleotide variant |
not specified [RCV000608495] |
Chr12:21807463 [GRCh38]
Chr12:21960397 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) |
single nucleotide variant |
not provided [RCV000786078]|not specified [RCV000611084] |
Chr12:21852120 [GRCh38]
Chr12:22005054 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448891]|Dilated cardiomyopathy 1O [RCV002064262]|not specified [RCV000611105] |
Chr12:21845639 [GRCh38]
Chr12:21998573 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.4366C>T (p.Leu1456=) |
single nucleotide variant |
not specified [RCV000611189] |
Chr12:21807429 [GRCh38]
Chr12:21960363 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2867-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002438594]|Dilated cardiomyopathy 1O [RCV000867899]|not provided [RCV001697919] |
Chr12:21845837 [GRCh38]
Chr12:21998771 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.448A>G (p.Ile150Val) |
single nucleotide variant |
Wolff-Parkinson-White pattern [RCV000656179] |
Chr12:21917062 [GRCh38]
Chr12:22069996 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420435]|Dilated cardiomyopathy 1O [RCV000539425]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002497123] |
Chr12:21882806 [GRCh38]
Chr12:22035740 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3574A>G (p.Thr1192Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000535621] |
Chr12:21829053 [GRCh38]
Chr12:21981987 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3315+17C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002064369]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002491294]|not specified [RCV000612069] |
Chr12:21844466 [GRCh38]
Chr12:21997400 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.4315+11T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002062806]|not specified [RCV000614844] |
Chr12:21809841 [GRCh38]
Chr12:21962775 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1194C>T (p.Leu398=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619733]|not specified [RCV003330834] |
Chr12:21910283 [GRCh38]
Chr12:22063217 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1455+10A>G |
single nucleotide variant |
not specified [RCV000605276] |
Chr12:21908067 [GRCh38]
Chr12:22061001 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1993G>A (p.Ala665Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162879]|Dilated cardiomyopathy 1O [RCV000640321] |
Chr12:21882792 [GRCh38]
Chr12:22035726 [GRCh37]
Chr12:12p12.1 |
benign|likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.959G>T (p.Gly320Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640323] |
Chr12:21912924 [GRCh38]
Chr12:22065858 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2072T>C (p.Ile691Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640324]|not provided [RCV002223895] |
Chr12:21875674 [GRCh38]
Chr12:22028608 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4A>G (p.Ser2Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334111]|Dilated cardiomyopathy 1O [RCV000640328] |
Chr12:21936671 [GRCh38]
Chr12:22089605 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2198+3A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640329] |
Chr12:21872622 [GRCh38]
Chr12:22025556 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1785A>G (p.Ala595=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000640338] |
Chr12:21894049 [GRCh38]
Chr12:22046983 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3669+7T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001492613]|not specified [RCV000605536] |
Chr12:21828951 [GRCh38]
Chr12:21981885 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2285T>G (p.Leu762Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621168] |
Chr12:21863007 [GRCh38]
Chr12:22015941 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2190C>A (p.His730Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617611]|Dilated cardiomyopathy 1O [RCV001324563]|Primary familial dilated cardiomyopathy [RCV000624030] |
Chr12:21872633 [GRCh38]
Chr12:22025567 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.558T>C (p.Asn186=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617355] |
Chr12:21916952 [GRCh38]
Chr12:22069886 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1455+4A>C |
single nucleotide variant |
Cardiovascular phenotype [RCV000617511]|Dilated cardiomyopathy 1O [RCV001110549]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001110548]|not provided [RCV001534637] |
Chr12:21908073 [GRCh38]
Chr12:22061007 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3698C>T (p.Thr1233Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002534285]|not provided [RCV000658371] |
Chr12:21818223 [GRCh38]
Chr12:21971157 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1012-2A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002534286]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002477472]|not provided [RCV000658389] |
Chr12:21910980 [GRCh38]
Chr12:22063914 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442378]|Dilated cardiomyopathy 1O [RCV002534287]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000765079]|not provided [RCV000658420] |
Chr12:21862980 [GRCh38]
Chr12:22015914 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1805T>C (p.Val602Ala) |
single nucleotide variant |
not provided [RCV000658350] |
Chr12:21887932 [GRCh38]
Chr12:22040866 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 |
copy number gain |
not provided [RCV000683480] |
Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| GRCh37/hg19 12p12.1(chr12:21755837-22023573)x3 |
copy number gain |
not provided [RCV000683414] |
Chr12:21755837..22023573 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 |
copy number gain |
not provided [RCV000683478] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
not provided [RCV000683479] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.457G>A (p.Val153Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000692740] |
Chr12:21917053 [GRCh38]
Chr12:22069987 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.483C>G (p.Asp161Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000694577] |
Chr12:21917027 [GRCh38]
Chr12:22069961 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1022C>T (p.Thr341Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000705292] |
Chr12:21910968 [GRCh38]
Chr12:22063902 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2643+6A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000691529] |
Chr12:21852362 [GRCh38]
Chr12:22005296 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4129A>G (p.Ile1377Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000689738] |
Chr12:21812131 [GRCh38]
Chr12:21965065 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000706525]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002485773] |
Chr12:21936670 [GRCh38]
Chr12:22089604 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.884G>A (p.Arg295Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000689633] |
Chr12:21912999 [GRCh38]
Chr12:22065933 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2222T>C (p.Phe741Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424710]|Dilated cardiomyopathy 1O [RCV000705287] |
Chr12:21864454 [GRCh38]
Chr12:22017388 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332505]|Dilated cardiomyopathy 1O [RCV000706003]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002499275] |
Chr12:21812055 [GRCh38]
Chr12:21964989 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1899_1901dup (p.Lys633_His634insGln) |
duplication |
Dilated cardiomyopathy 1O [RCV000806463] |
Chr12:21887835..21887836 [GRCh38]
Chr12:22040769..22040770 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.293A>G (p.Glu98Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000806131] |
Chr12:21926055 [GRCh38]
Chr12:22078989 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.233C>T (p.Ala78Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002570700]|not specified [RCV001553604] |
Chr12:21933833 [GRCh38]
Chr12:22086767 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3203T>C (p.Leu1068Pro) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001530172] |
Chr12:21844809 [GRCh38]
Chr12:21997743 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 |
copy number gain |
not provided [RCV000750245] |
Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21 |
pathogenic |
| NM_020297.4(ABCC9):c.3567-135_3567-132del |
deletion |
not provided [RCV001679760] |
Chr12:21829192..21829195 [GRCh38]
Chr12:21982126..21982129 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2238-230C>T |
single nucleotide variant |
not provided [RCV001540566] |
Chr12:21863284 [GRCh38]
Chr12:22016218 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3492C>T (p.Asp1164=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458564]|Dilated cardiomyopathy 1O [RCV002077151]|not provided [RCV001702994] |
Chr12:21838152 [GRCh38]
Chr12:21991086 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1803-282A>G |
single nucleotide variant |
not provided [RCV001666947] |
Chr12:21888216 [GRCh38]
Chr12:22041150 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1803-18G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002073269]|not provided [RCV001699703] |
Chr12:21887952 [GRCh38]
Chr12:22040886 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1137T>C (p.Thr379=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002539710]|not provided [RCV001700677] |
Chr12:21910853 [GRCh38]
Chr12:22063787 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1164+116AAC[4] |
microsatellite |
not provided [RCV001564082] |
Chr12:21910701..21910702 [GRCh38]
Chr12:22063635..22063636 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1802+198T>A |
single nucleotide variant |
not provided [RCV001533941] |
Chr12:21893834 [GRCh38]
Chr12:22046768 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2093-238T>C |
single nucleotide variant |
not provided [RCV001681584] |
Chr12:21872968 [GRCh38]
Chr12:22025902 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.-20-116A>G |
single nucleotide variant |
not provided [RCV001565886] |
Chr12:21936810 [GRCh38]
Chr12:22089744 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1911+252G>C |
single nucleotide variant |
not provided [RCV001546888] |
Chr12:21887574 [GRCh38]
Chr12:22040508 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.407-9T>C |
single nucleotide variant |
not provided [RCV000939801] |
Chr12:21917112 [GRCh38]
Chr12:22070046 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-311CA[19] |
microsatellite |
not provided [RCV001648017] |
Chr12:21818526..21818527 [GRCh38]
Chr12:21971460..21971461 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+733C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002533883]|not provided [RCV000761819] |
Chr12:21805265 [GRCh38]
Chr12:21958199 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3096+3A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001065415] |
Chr12:21845600 [GRCh38]
Chr12:21998534 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3097-224dup |
duplication |
not provided [RCV001645779] |
Chr12:21845137..21845138 [GRCh38]
Chr12:21998071..21998072 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3366G>A (p.Leu1122=) |
single nucleotide variant |
not provided [RCV000994868] |
Chr12:21842421 [GRCh38]
Chr12:21995355 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-32A>T |
single nucleotide variant |
not provided [RCV001569198] |
Chr12:21818283 [GRCh38]
Chr12:21971217 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1012-305C>G |
single nucleotide variant |
not provided [RCV001565808] |
Chr12:21911283 [GRCh38]
Chr12:22064217 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+330C>A |
single nucleotide variant |
not provided [RCV001667591] |
Chr12:21915338 [GRCh38]
Chr12:22068272 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+1G>A |
single nucleotide variant |
not provided [RCV001570321] |
Chr12:21805997 [GRCh38]
Chr12:21958931 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.12:g.(?_21805164)_(21936684_?)dup |
duplication |
Dilated cardiomyopathy 1O [RCV001031420] |
Chr12:21958098..22089618 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2020-6T>C |
single nucleotide variant |
not provided [RCV001702979]|not specified [RCV001700911] |
Chr12:21875732 [GRCh38]
Chr12:22028666 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.3670-311CA[17] |
microsatellite |
not provided [RCV001709224] |
Chr12:21818527..21818528 [GRCh38]
Chr12:21971461..21971462 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2505+173C>T |
single nucleotide variant |
not provided [RCV001612912] |
Chr12:21859413 [GRCh38]
Chr12:22012347 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2763A>G (p.Leu921=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434155]|Dilated cardiomyopathy 1O [RCV000876459] |
Chr12:21852103 [GRCh38]
Chr12:22005037 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+745_4512+746del |
deletion |
Cardiovascular phenotype [RCV002336869]|Dilated cardiomyopathy 1O [RCV002536841]|not provided [RCV003389843] |
Chr12:21805252..21805253 [GRCh38]
Chr12:21958186..21958187 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1770G>A (p.Thr590=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399913]|Dilated cardiomyopathy 1O [RCV001451951]|not provided [RCV003392650]|not specified [RCV003226403] |
Chr12:21894064 [GRCh38]
Chr12:22046998 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.1012-10_1012-9insTTTTT |
insertion |
not provided [RCV000949975] |
Chr12:21910987..21910988 [GRCh38]
Chr12:22063921..22063922 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1704T>C (p.Pro568=) |
single nucleotide variant |
not provided [RCV000882517] |
Chr12:21894130 [GRCh38]
Chr12:22047064 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1803-5dup |
duplication |
Cardiovascular phenotype [RCV002409074]|Dilated cardiomyopathy 1O [RCV001513379] |
Chr12:21887938..21887939 [GRCh38]
Chr12:22040872..22040873 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.306C>T (p.Leu102=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003307692]|Dilated cardiomyopathy 1O [RCV001412192]|not provided [RCV000923380] |
Chr12:21926042 [GRCh38]
Chr12:22078976 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1251C>T (p.Val417=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409192]|Dilated cardiomyopathy 1O [RCV001488031]|not provided [RCV000926979] |
Chr12:21910226 [GRCh38]
Chr12:22063160 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+679C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000981482] |
Chr12:21805319 [GRCh38]
Chr12:21958253 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.957T>C (p.Ser319=) |
single nucleotide variant |
Cardiomyopathy [RCV001799000]|Cardiovascular phenotype [RCV002372459]|Dilated cardiomyopathy 1O [RCV000870781]|not specified [RCV001193520] |
Chr12:21912926 [GRCh38]
Chr12:22065860 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3948T>C (p.Asp1316=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372675]|Dilated cardiomyopathy 1O [RCV000972044] |
Chr12:21815838 [GRCh38]
Chr12:21968772 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.66T>C (p.Asn22=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363321]|Dilated cardiomyopathy 1O [RCV001471937] |
Chr12:21936609 [GRCh38]
Chr12:22089543 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.927A>G (p.Leu309=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001406818] |
Chr12:21912956 [GRCh38]
Chr12:22065890 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-6C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000945668] |
Chr12:21913072 [GRCh38]
Chr12:22066006 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1660-7dup |
duplication |
Dilated cardiomyopathy 1O [RCV000983639] |
Chr12:21894180..21894181 [GRCh38]
Chr12:22047114..22047115 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3390T>C (p.Tyr1130=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001447471] |
Chr12:21842397 [GRCh38]
Chr12:21995331 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+711G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003307898]|Dilated cardiomyopathy 1O [RCV001061813]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002479365]|not provided [RCV001311294] |
Chr12:21805287 [GRCh38]
Chr12:21958221 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379540]|Dilated cardiomyopathy 1O [RCV001049699]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002489611]|not provided [RCV001759978] |
Chr12:21908203 [GRCh38]
Chr12:22061137 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.812A>G (p.Gln271Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001047991] |
Chr12:21915672 [GRCh38]
Chr12:22068606 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1676C>T (p.Ala559Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001056741] |
Chr12:21894158 [GRCh38]
Chr12:22047092 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3914A>G (p.His1305Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001059127] |
Chr12:21815872 [GRCh38]
Chr12:21968806 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3933G>T (p.Glu1311Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001059656] |
Chr12:21815853 [GRCh38]
Chr12:21968787 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160210]|Dilated cardiomyopathy 1O [RCV001036033]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112341] |
Chr12:21848153 [GRCh38]
Chr12:22001087 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3479T>G (p.Leu1160Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454285]|Dilated cardiomyopathy 1O [RCV001040012]|not provided [RCV001555143] |
Chr12:21838165 [GRCh38]
Chr12:21991099 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001054524]|Primary dilated cardiomyopathy [RCV001293234] |
Chr12:21845749 [GRCh38]
Chr12:21998683 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2799G>A (p.Glu933=) |
single nucleotide variant |
Cardiomyopathy [RCV000770398]|Dilated cardiomyopathy 1O [RCV003768315] |
Chr12:21848217 [GRCh38]
Chr12:22001151 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1521G>A (p.Leu507=) |
single nucleotide variant |
Cardiomyopathy [RCV000770408] |
Chr12:21906223 [GRCh38]
Chr12:22059157 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter) |
single nucleotide variant |
Cardiomyopathy [RCV000779676]|Cardiovascular phenotype [RCV002406706]|Dilated cardiomyopathy 1O [RCV001237891]|not provided [RCV001766617] |
Chr12:21887879 [GRCh38]
Chr12:22040813 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.2914A>T (p.Arg972Trp) |
single nucleotide variant |
not specified [RCV000779677] |
Chr12:21845785 [GRCh38]
Chr12:21998719 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2797G>A (p.Glu933Lys) |
single nucleotide variant |
Cardiomyopathy [RCV000770399] |
Chr12:21848219 [GRCh38]
Chr12:22001153 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1456-3T>C |
single nucleotide variant |
Cardiomyopathy [RCV000770409]|Dilated cardiomyopathy 1O [RCV001318640] |
Chr12:21906291 [GRCh38]
Chr12:22059225 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2583T>A (p.Asp861Glu) |
single nucleotide variant |
Cardiomyopathy [RCV000770400] |
Chr12:21852428 [GRCh38]
Chr12:22005362 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.99T>G (p.Pro33=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000983518] |
Chr12:21936576 [GRCh38]
Chr12:22089510 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3753T>A (p.Gly1251=) |
single nucleotide variant |
not provided [RCV000929419] |
Chr12:21818168 [GRCh38]
Chr12:21971102 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3007T>C (p.Leu1003=) |
single nucleotide variant |
Cardiomyopathy [RCV001170961]|Cardiovascular phenotype [RCV003307730]|Dilated cardiomyopathy 1O [RCV002066180] |
Chr12:21845692 [GRCh38]
Chr12:21998626 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2613C>T (p.His871=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003307589]|Dilated cardiomyopathy 1O [RCV000863154] |
Chr12:21852398 [GRCh38]
Chr12:22005332 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2198+7A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001414784] |
Chr12:21872618 [GRCh38]
Chr12:22025552 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001470669] |
Chr12:21806066 [GRCh38]
Chr12:21959000 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-6_4450-5del |
deletion |
Dilated cardiomyopathy 1O [RCV001513158]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002501199]|not provided [RCV000861736] |
Chr12:21806065..21806066 [GRCh38]
Chr12:21958999..21959000 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.3273G>C (p.Leu1091=) |
single nucleotide variant |
Cardiomyopathy [RCV001799001]|Cardiovascular phenotype [RCV002320038]|Dilated cardiomyopathy 1O [RCV000874131] |
Chr12:21844525 [GRCh38]
Chr12:21997459 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2020-4G>A |
single nucleotide variant |
not provided [RCV000943484] |
Chr12:21875730 [GRCh38]
Chr12:22028664 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1704T>A (p.Pro568=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000983409] |
Chr12:21894130 [GRCh38]
Chr12:22047064 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.294A>G (p.Glu98=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001482823] |
Chr12:21926054 [GRCh38]
Chr12:22078988 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3051A>G (p.Thr1017=) |
single nucleotide variant |
Cardiomyopathy [RCV000769378]|Cardiovascular phenotype [RCV002442573]|Dilated cardiomyopathy 1O [RCV001404073] |
Chr12:21845648 [GRCh38]
Chr12:21998582 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1011+1G>A |
single nucleotide variant |
Cardiomyopathy [RCV000769380] |
Chr12:21912871 [GRCh38]
Chr12:22065805 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.323C>G (p.Ala108Gly) |
single nucleotide variant |
Cardiomyopathy [RCV000769386] |
Chr12:21926025 [GRCh38]
Chr12:22078959 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2086C>T (p.Pro696Ser) |
single nucleotide variant |
Cardiomyopathy [RCV000770403]|Dilated cardiomyopathy 1O [RCV001320688] |
Chr12:21875660 [GRCh38]
Chr12:22028594 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1321-287A>G |
single nucleotide variant |
not provided [RCV000841046] |
Chr12:21908498 [GRCh38]
Chr12:22061432 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3567-287T>C |
single nucleotide variant |
not provided [RCV000841052] |
Chr12:21829347 [GRCh38]
Chr12:21982281 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.143-301A>G |
single nucleotide variant |
not provided [RCV000841114] |
Chr12:21934224 [GRCh38]
Chr12:22087158 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+1094A>C |
single nucleotide variant |
not provided [RCV000841119] |
Chr12:21804904 [GRCh38]
Chr12:21957838 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-197T>A |
single nucleotide variant |
not provided [RCV000833923] |
Chr12:21829257 [GRCh38]
Chr12:21982191 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3892+224C>T |
single nucleotide variant |
not provided [RCV000839292] |
Chr12:21816963 [GRCh38]
Chr12:21969897 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.454T>C (p.Leu152=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001477769] |
Chr12:21917056 [GRCh38]
Chr12:22069990 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1618+6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000815896] |
Chr12:21906120 [GRCh38]
Chr12:22059054 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-250T>C |
single nucleotide variant |
not provided [RCV000839525] |
Chr12:21817557 [GRCh38]
Chr12:21970491 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.407-194A>G |
single nucleotide variant |
not provided [RCV000831692] |
Chr12:21917297 [GRCh38]
Chr12:22070231 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4103-79A>G |
single nucleotide variant |
not provided [RCV000831695] |
Chr12:21812236 [GRCh38]
Chr12:21965170 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4638C>T (p.Arg1546=) |
single nucleotide variant |
Cardiomyopathy [RCV001798990]|not provided [RCV000842280] |
Chr12:21801056 [GRCh38]
Chr12:21953990 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.363T>C (p.Tyr121=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345927]|Dilated cardiomyopathy 1O [RCV002064397]|not provided [RCV000842372] |
Chr12:21925985 [GRCh38]
Chr12:22078919 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-20C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619723]|not provided [RCV000842377] |
Chr12:21829080 [GRCh38]
Chr12:21982014 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2866+171T>A |
single nucleotide variant |
not provided [RCV000834694] |
Chr12:21847979 [GRCh38]
Chr12:22000913 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-180A>G |
single nucleotide variant |
not provided [RCV000834695] |
Chr12:21829240 [GRCh38]
Chr12:21982174 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2770-192C>T |
single nucleotide variant |
not provided [RCV000834707] |
Chr12:21848438 [GRCh38]
Chr12:22001372 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4023+327A>G |
single nucleotide variant |
not provided [RCV000830526] |
Chr12:21815436 [GRCh38]
Chr12:21968370 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1165-54T>C |
single nucleotide variant |
not provided [RCV000830571] |
Chr12:21910366 [GRCh38]
Chr12:22063300 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2643+44C>A |
single nucleotide variant |
not provided [RCV000833362] |
Chr12:21852324 [GRCh38]
Chr12:22005258 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1874C>T (p.Ser625Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406852]|Dilated cardiomyopathy 1O [RCV000815253] |
Chr12:21887863 [GRCh38]
Chr12:22040797 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3097-42T>C |
single nucleotide variant |
not provided [RCV000835082] |
Chr12:21844957 [GRCh38]
Chr12:21997891 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3473+216T>C |
single nucleotide variant |
not provided [RCV000835136] |
Chr12:21842098 [GRCh38]
Chr12:21995032 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1912-234T>C |
single nucleotide variant |
not provided [RCV000838718] |
Chr12:21883107 [GRCh38]
Chr12:22036041 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2591G>A (p.Arg864Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000812842] |
Chr12:21852420 [GRCh38]
Chr12:22005354 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-65C>T |
single nucleotide variant |
not provided [RCV000835165] |
Chr12:21817372 [GRCh38]
Chr12:21970306 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3315+9C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002065879] |
Chr12:21844474 [GRCh38]
Chr12:21997408 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1071T>A (p.Leu357=) |
single nucleotide variant |
not provided [RCV000827216] |
Chr12:21910919 [GRCh38]
Chr12:22063853 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1912-12T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002538298]|not provided [RCV000840894] |
Chr12:21882885 [GRCh38]
Chr12:22035819 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2495T>C (p.Ile832Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424914]|Dilated cardiomyopathy 1O [RCV000813474] |
Chr12:21859596 [GRCh38]
Chr12:22012530 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3473+112C>T |
single nucleotide variant |
not provided [RCV000833663] |
Chr12:21842202 [GRCh38]
Chr12:21995136 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3474-93A>G |
single nucleotide variant |
not provided [RCV000833664] |
Chr12:21838263 [GRCh38]
Chr12:21991197 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1912-66G>A |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548807]|not provided [RCV000830236] |
Chr12:21882939 [GRCh38]
Chr12:22035873 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3670-94G>T |
single nucleotide variant |
not provided [RCV000835114] |
Chr12:21818345 [GRCh38]
Chr12:21971279 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1660-276C>A |
single nucleotide variant |
not provided [RCV000841170] |
Chr12:21894450 [GRCh38]
Chr12:22047384 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2424+78G>A |
single nucleotide variant |
not provided [RCV000835343] |
Chr12:21860893 [GRCh38]
Chr12:22013827 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816G>T (p.Lys272Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000820316] |
Chr12:21915668 [GRCh38]
Chr12:22068602 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV000824857] |
Chr12:21894131 [GRCh38]
Chr12:22047065 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.158del (p.Ser53fs) |
deletion |
not provided [RCV000788483] |
Chr12:21933908 [GRCh38]
Chr12:22086842 [GRCh37]
Chr12:12p12.1 |
pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.573+12A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002068611]|not provided [RCV000842229] |
Chr12:21916925 [GRCh38]
Chr12:22069859 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1164+85T>A |
single nucleotide variant |
not provided [RCV000832931] |
Chr12:21910741 [GRCh38]
Chr12:22063675 [GRCh37]
Chr12:12p12.1 |
benign |
| GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 |
copy number loss |
not provided [RCV000849815] |
Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23 |
pathogenic |
| NM_020297.4(ABCC9):c.2238-270_2238-268del |
microsatellite |
not provided [RCV000832998] |
Chr12:21863322..21863324 [GRCh38]
Chr12:22016256..22016258 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.23A>G (p.Asn8Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000805944] |
Chr12:21936652 [GRCh38]
Chr12:22089586 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.285-321C>T |
single nucleotide variant |
not provided [RCV000841040] |
Chr12:21926384 [GRCh38]
Chr12:22079318 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.406+305A>T |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548918]|not provided [RCV000841041] |
Chr12:21925637 [GRCh38]
Chr12:22078571 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.406+320A>G |
single nucleotide variant |
not provided [RCV000841042] |
Chr12:21925622 [GRCh38]
Chr12:22078556 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.574-270C>A |
single nucleotide variant |
not provided [RCV000841043] |
Chr12:21916180 [GRCh38]
Chr12:22069114 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3096+249AG[2] |
microsatellite |
not provided [RCV000841115] |
Chr12:21845349..21845350 [GRCh38]
Chr12:21998283..21998284 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.444A>G (p.Lys148=) |
single nucleotide variant |
not provided [RCV000827642] |
Chr12:21917066 [GRCh38]
Chr12:22070000 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3245+3A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000793088] |
Chr12:21844764 [GRCh38]
Chr12:21997698 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2198+1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000793589] |
Chr12:21872624 [GRCh38]
Chr12:22025558 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+194del |
deletion |
not provided [RCV000830238] |
Chr12:21851903 [GRCh38]
Chr12:22004837 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1262C>T (p.Thr421Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000795937] |
Chr12:21910215 [GRCh38]
Chr12:22063149 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2198+136del |
deletion |
not provided [RCV000835846] |
Chr12:21872489 [GRCh38]
Chr12:22025423 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1803-188_1803-177del |
deletion |
not provided [RCV000833114] |
Chr12:21888111..21888122 [GRCh38]
Chr12:22041045..22041056 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2237+216C>G |
single nucleotide variant |
not provided [RCV000833115] |
Chr12:21864223 [GRCh38]
Chr12:22017157 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3892+102G>A |
single nucleotide variant |
not provided [RCV000833116] |
Chr12:21817085 [GRCh38]
Chr12:21970019 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4202del (p.Gly1401fs) |
deletion |
Dilated cardiomyopathy 1O [RCV000824474] |
Chr12:21812058 [GRCh38]
Chr12:21964992 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+805T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000815063]|not provided [RCV001585750] |
Chr12:21805193 [GRCh38]
Chr12:21958127 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3324T>C (p.Pro1108=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001400684] |
Chr12:21842463 [GRCh38]
Chr12:21995397 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.497G>A (p.Arg166His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000802407]|not provided [RCV003389831] |
Chr12:21917013 [GRCh38]
Chr12:22069947 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2340-233A>G |
single nucleotide variant |
not provided [RCV000837489] |
Chr12:21861288 [GRCh38]
Chr12:22014222 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1012-276A>G |
single nucleotide variant |
not provided [RCV000841045] |
Chr12:21911254 [GRCh38]
Chr12:22064188 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2238-274_2238-229del |
deletion |
not provided [RCV000841047] |
Chr12:21863283..21863328 [GRCh38]
Chr12:22016217..22016262 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2506-332T>C |
single nucleotide variant |
not provided [RCV000841048] |
Chr12:21852837 [GRCh38]
Chr12:22005771 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2867-342A>C |
single nucleotide variant |
not provided [RCV000841049] |
Chr12:21846174 [GRCh38]
Chr12:21999108 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3315+296C>G |
single nucleotide variant |
not provided [RCV000841050] |
Chr12:21844187 [GRCh38]
Chr12:21997121 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3473+293C>G |
single nucleotide variant |
not provided [RCV000841051] |
Chr12:21842021 [GRCh38]
Chr12:21994955 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3567-333T>C |
single nucleotide variant |
not provided [RCV000841086] |
Chr12:21829393 [GRCh38]
Chr12:21982327 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.285-266A>G |
single nucleotide variant |
not provided [RCV000841092] |
Chr12:21926329 [GRCh38]
Chr12:22079263 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2019+275T>C |
single nucleotide variant |
not provided [RCV000841093] |
Chr12:21882491 [GRCh38]
Chr12:22035425 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2506-301G>T |
single nucleotide variant |
not provided [RCV000841201] |
Chr12:21852806 [GRCh38]
Chr12:22005740 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4103-3C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000799595] |
Chr12:21812160 [GRCh38]
Chr12:21965094 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2019+85T>A |
single nucleotide variant |
not provided [RCV000834665] |
Chr12:21882681 [GRCh38]
Chr12:22035615 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3669+1G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000803461]|not specified [RCV003317374] |
Chr12:21828957 [GRCh38]
Chr12:21981891 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.817-180G>A |
single nucleotide variant |
not provided [RCV000831693] |
Chr12:21913246 [GRCh38]
Chr12:22066180 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3096+100A>T |
single nucleotide variant |
not provided [RCV000831694] |
Chr12:21845503 [GRCh38]
Chr12:21998437 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4212-129G>T |
single nucleotide variant |
not provided [RCV000831696] |
Chr12:21810084 [GRCh38]
Chr12:21963018 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4449+204C>T |
single nucleotide variant |
not provided [RCV000831697] |
Chr12:21807142 [GRCh38]
Chr12:21960076 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+533C>G |
single nucleotide variant |
not provided [RCV000831698] |
Chr12:21805465 [GRCh38]
Chr12:21958399 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4211+123A>T |
single nucleotide variant |
not provided [RCV000835166] |
Chr12:21811926 [GRCh38]
Chr12:21964860 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1875G>T (p.Ser625=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001469807] |
Chr12:21887862 [GRCh38]
Chr12:22040796 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2339+119C>T |
single nucleotide variant |
not provided [RCV000832268] |
Chr12:21862834 [GRCh38]
Chr12:22015768 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2424+3G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000820790] |
Chr12:21860968 [GRCh38]
Chr12:22013902 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4389T>C (p.Phe1463=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332740]|Dilated cardiomyopathy 1O [RCV001410313]|not provided [RCV000835850] |
Chr12:21807406 [GRCh38]
Chr12:21960340 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.639G>A (p.Val213=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352492]|Dilated cardiomyopathy 1O [RCV001490115]|not provided [RCV000842320] |
Chr12:21915845 [GRCh38]
Chr12:22068779 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NC_000012.12:g.21852069T>G |
single nucleotide variant |
not provided [RCV000830237] |
Chr12:22005003 [GRCh37]
Chr12:12p12.1 |
benign |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 |
copy number gain |
not provided [RCV000847209] |
Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.4269A>T (p.Glu1423Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001047151] |
Chr12:21809898 [GRCh38]
Chr12:21962832 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs) |
duplication |
Atrial fibrillation, familial, 12 [RCV003333130]|Dilated cardiomyopathy 1O [RCV001066918]|not provided [RCV002223985] |
Chr12:21845769..21845770 [GRCh38]
Chr12:21998703..21998704 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1686del (p.Ser562fs) |
deletion |
Dilated cardiomyopathy 1O [RCV001043338] |
Chr12:21894148 [GRCh38]
Chr12:22047082 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1660-66G>A |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001548914]|not provided [RCV001615291] |
Chr12:21894240 [GRCh38]
Chr12:22047174 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1012-9G>T |
single nucleotide variant |
not provided [RCV000959259] |
Chr12:21910987 [GRCh38]
Chr12:22063921 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2212G>A (p.Glu738Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001858798] |
Chr12:21864464 [GRCh38]
Chr12:22017398 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2148T>C (p.Leu716=) |
single nucleotide variant |
not provided [RCV000994871] |
Chr12:21872675 [GRCh38]
Chr12:22025609 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1743G>A (p.Leu581=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400166]|Dilated cardiomyopathy 1O [RCV001869385]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002481768] |
Chr12:21894091 [GRCh38]
Chr12:22047025 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1671C>A (p.Thr557=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002067607]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002479168]|not provided [RCV000994873] |
Chr12:21894163 [GRCh38]
Chr12:22047097 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1134_1135del (p.Glu378fs) |
microsatellite |
not provided [RCV000994874] |
Chr12:21910855..21910856 [GRCh38]
Chr12:22063789..22063790 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1008T>C (p.Thr336=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001112528]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112527] |
Chr12:21912875 [GRCh38]
Chr12:22065809 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1 |
copy number loss |
not provided [RCV000846444] |
Chr12:19762818..22659824 [GRCh37]
Chr12:12p12.3-12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2572T>C (p.Phe858Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001246559] |
Chr12:21852439 [GRCh38]
Chr12:22005373 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.12:g.(?_21805164)_(21864487_?)dup |
duplication |
Dilated cardiomyopathy 1O [RCV001032271] |
Chr12:21958098..22017421 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4103-14T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001113605]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113606] |
Chr12:21812171 [GRCh38]
Chr12:21965105 [GRCh37]
Chr12:12p12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001217182]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002479167] |
Chr12:21812071 [GRCh38]
Chr12:21965005 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3487C>T (p.Leu1163Phe) |
single nucleotide variant |
not provided [RCV000994867] |
Chr12:21838157 [GRCh38]
Chr12:21991091 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2470C>A (p.Arg824=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454239]|Dilated cardiomyopathy 1O [RCV001429950]|not provided [RCV000994869] |
Chr12:21859621 [GRCh38]
Chr12:22012555 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.817-18del |
deletion |
Dilated cardiomyopathy 1O [RCV002069228]|not provided [RCV001557072]|not specified [RCV001193524] |
Chr12:21913084 [GRCh38]
Chr12:22066018 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.4212-18A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002069298]|not specified [RCV001201212] |
Chr12:21809973 [GRCh38]
Chr12:21962907 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.873_874dup (p.Ala292fs) |
microsatellite |
Dilated cardiomyopathy 1O [RCV001220152] |
Chr12:21913008..21913009 [GRCh38]
Chr12:22065942..22065943 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2240G>A (p.Arg747Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001222624] |
Chr12:21863052 [GRCh38]
Chr12:22015986 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2309T>G (p.Ile770Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001243080] |
Chr12:21862983 [GRCh38]
Chr12:22015917 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2392C>A (p.Pro798Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001237456] |
Chr12:21861003 [GRCh38]
Chr12:22013937 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2152A>G (p.Ile718Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001237332] |
Chr12:21872671 [GRCh38]
Chr12:22025605 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1157C>T (p.Ala386Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001209392] |
Chr12:21910833 [GRCh38]
Chr12:22063767 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.144G>T (p.Gly48=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001235148] |
Chr12:21933922 [GRCh38]
Chr12:22086856 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.578A>G (p.Tyr193Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001224388] |
Chr12:21915906 [GRCh38]
Chr12:22068840 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2024C>T (p.Thr675Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001225977] |
Chr12:21875722 [GRCh38]
Chr12:22028656 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2033A>G (p.Tyr678Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001226498] |
Chr12:21875713 [GRCh38]
Chr12:22028647 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001221663]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001836973]|not provided [RCV001751425] |
Chr12:21933866 [GRCh38]
Chr12:22086800 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1609T>A (p.Ser537Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001226046] |
Chr12:21906135 [GRCh38]
Chr12:22059069 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.7C>G (p.Leu3Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001236102]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002480771] |
Chr12:21936668 [GRCh38]
Chr12:22089602 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2505G>A (p.Leu835=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001204492] |
Chr12:21859586 [GRCh38]
Chr12:22012520 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1595T>C (p.Phe532Ser) |
single nucleotide variant |
Cardiomyopathy [RCV000852672]|Dilated cardiomyopathy 1O [RCV001858512] |
Chr12:21906149 [GRCh38]
Chr12:22059083 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.817-18dup |
duplication |
Dilated cardiomyopathy 1O [RCV002068136]|not specified [RCV001175594] |
Chr12:21913083..21913084 [GRCh38]
Chr12:22066017..22066018 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001250144] |
Chr12:21844822 [GRCh38]
Chr12:21997756 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.1471A>C (p.Arg491=) |
single nucleotide variant |
Cardiomyopathy [RCV001170966] |
Chr12:21906273 [GRCh38]
Chr12:22059207 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1050C>T (p.Asn350=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402559]|Dilated cardiomyopathy 1O [RCV002069227]|not specified [RCV001193521] |
Chr12:21910940 [GRCh38]
Chr12:22063874 [GRCh37]
Chr12:12p12.1 |
benign|likely benign |
| NM_020297.4(ABCC9):c.4231T>C (p.Cys1411Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001246969]|not provided [RCV003442812] |
Chr12:21809936 [GRCh38]
Chr12:21962870 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.771A>C (p.Ala257=) |
single nucleotide variant |
not specified [RCV003231012] |
Chr12:21915713 [GRCh38]
Chr12:22068647 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.977A>C (p.Asn326Thr) |
single nucleotide variant |
not provided [RCV003231713] |
Chr12:21912906 [GRCh38]
Chr12:22065840 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_20522219)_(22089608_?)dup |
duplication |
not provided [RCV003105374] |
Chr12:20522219..22089608 [GRCh37]
Chr12:12p12.2-12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2340-174G>A |
single nucleotide variant |
not provided [RCV001621306] |
Chr12:21861229 [GRCh38]
Chr12:22014163 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3771+228G>A |
single nucleotide variant |
not provided [RCV001698645] |
Chr12:21817922 [GRCh38]
Chr12:21970856 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2340-176_2340-175insAT |
insertion |
not provided [RCV001659483] |
Chr12:21861230..21861231 [GRCh38]
Chr12:22014164..22014165 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2340-175G>T |
single nucleotide variant |
not provided [RCV001638635] |
Chr12:21861230 [GRCh38]
Chr12:22014164 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3097-25G>A |
single nucleotide variant |
not provided [RCV001638689] |
Chr12:21844940 [GRCh38]
Chr12:21997874 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3096+44T>G |
single nucleotide variant |
not provided [RCV001568658] |
Chr12:21845559 [GRCh38]
Chr12:21998493 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-139_3567-132del |
deletion |
not provided [RCV001555082] |
Chr12:21829192..21829199 [GRCh38]
Chr12:21982126..21982133 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3566+267C>A |
single nucleotide variant |
not provided [RCV001560715] |
Chr12:21837811 [GRCh38]
Chr12:21990745 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-231GATATA[5] |
microsatellite |
not provided [RCV001588650] |
Chr12:21818458..21818459 [GRCh38]
Chr12:21971392..21971393 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3097-296G>C |
single nucleotide variant |
not provided [RCV001583798] |
Chr12:21845211 [GRCh38]
Chr12:21998145 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.*7G>A |
single nucleotide variant |
ABCC9-related condition [RCV003948583]|not provided [RCV001550417] |
Chr12:21801037 [GRCh38]
Chr12:21953971 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4316-159G>T |
single nucleotide variant |
not provided [RCV001598594] |
Chr12:21807638 [GRCh38]
Chr12:21960572 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1456-197G>C |
single nucleotide variant |
not provided [RCV001561491] |
Chr12:21906485 [GRCh38]
Chr12:22059419 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4102+295del |
deletion |
not provided [RCV001561739] |
Chr12:21814349 [GRCh38]
Chr12:21967283 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893-295G>A |
single nucleotide variant |
not provided [RCV001569701] |
Chr12:21816188 [GRCh38]
Chr12:21969122 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1165-107T>G |
single nucleotide variant |
not provided [RCV001709259] |
Chr12:21910419 [GRCh38]
Chr12:22063353 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1165-91T>C |
single nucleotide variant |
not provided [RCV001639737] |
Chr12:21910403 [GRCh38]
Chr12:22063337 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.816+257C>A |
single nucleotide variant |
not provided [RCV001611405] |
Chr12:21915411 [GRCh38]
Chr12:22068345 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.816+190TA[2] |
microsatellite |
not provided [RCV001639802] |
Chr12:21915473..21915474 [GRCh38]
Chr12:22068407..22068408 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2093-295_2093-292del |
microsatellite |
not provided [RCV001586591] |
Chr12:21873022..21873025 [GRCh38]
Chr12:22025956..22025959 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-311CA[15] |
microsatellite |
not provided [RCV001562905] |
Chr12:21818527..21818532 [GRCh38]
Chr12:21971461..21971466 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2769+46G>A |
single nucleotide variant |
not provided [RCV001590336] |
Chr12:21852051 [GRCh38]
Chr12:22004985 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.142+74T>C |
single nucleotide variant |
not provided [RCV001545038] |
Chr12:21936459 [GRCh38]
Chr12:22089393 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1619-314A>T |
single nucleotide variant |
not provided [RCV001551847] |
Chr12:21895629 [GRCh38]
Chr12:22048563 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+253G>A |
single nucleotide variant |
not provided [RCV001620340] |
Chr12:21915415 [GRCh38]
Chr12:22068349 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3670-12G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002072948]|not provided [RCV001635607] |
Chr12:21818263 [GRCh38]
Chr12:21971197 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2424+10A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000878200] |
Chr12:21860961 [GRCh38]
Chr12:22013895 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3477C>T (p.Asp1159=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001449284] |
Chr12:21838167 [GRCh38]
Chr12:21991101 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3237A>G (p.Gly1079=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000929639] |
Chr12:21844775 [GRCh38]
Chr12:21997709 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3096+7T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000895123] |
Chr12:21845596 [GRCh38]
Chr12:21998530 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2001A>G (p.Thr667=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416165]|Dilated cardiomyopathy 1O [RCV001496708] |
Chr12:21882784 [GRCh38]
Chr12:22035718 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4093A>G (p.Ile1365Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000870237] |
Chr12:21814653 [GRCh38]
Chr12:21967587 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.999T>C (p.Asn333=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381960]|Dilated cardiomyopathy 1O [RCV003619725] |
Chr12:21912884 [GRCh38]
Chr12:22065818 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1029A>G (p.Ser343=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382197]|Dilated cardiomyopathy 1O [RCV001433721] |
Chr12:21910961 [GRCh38]
Chr12:22063895 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.522C>A (p.Val174=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001492665] |
Chr12:21916988 [GRCh38]
Chr12:22069922 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.579T>C (p.Tyr193=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001468942] |
Chr12:21915905 [GRCh38]
Chr12:22068839 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.192T>C (p.Leu64=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV000904587] |
Chr12:21933874 [GRCh38]
Chr12:22086808 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3138C>A (p.Gly1046=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001419420]|not provided [RCV000930824] |
Chr12:21844874 [GRCh38]
Chr12:21997808 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.23ACA[1] (p.Asn9del) |
microsatellite |
not specified [RCV001193523] |
Chr12:21936647..21936649 [GRCh38]
Chr12:22089581..22089583 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2198+1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001238845] |
Chr12:21872624 [GRCh38]
Chr12:22025558 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001242301]|not provided [RCV001699525] |
Chr12:21859617 [GRCh38]
Chr12:22012551 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3277C>G (p.Leu1093Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001244724] |
Chr12:21844521 [GRCh38]
Chr12:21997455 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1369T>G (p.Leu457Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001050478] |
Chr12:21908163 [GRCh38]
Chr12:22061097 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411632]|Dilated cardiomyopathy 1O [RCV001113779]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113778] |
Chr12:21887860 [GRCh38]
Chr12:22040794 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.355A>G (p.Ile119Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001223572] |
Chr12:21925993 [GRCh38]
Chr12:22078927 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+688A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001051307] |
Chr12:21805310 [GRCh38]
Chr12:21958244 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3005T>A (p.Leu1002His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001234896] |
Chr12:21845694 [GRCh38]
Chr12:21998628 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+726G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001046054] |
Chr12:21805272 [GRCh38]
Chr12:21958206 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4100A>G (p.Asp1367Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001067926] |
Chr12:21814646 [GRCh38]
Chr12:21967580 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2424G>C (p.Arg808Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001046305] |
Chr12:21860971 [GRCh38]
Chr12:22013905 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3400G>A (p.Val1134Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001228075] |
Chr12:21842387 [GRCh38]
Chr12:21995321 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1802+9T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001432812] |
Chr12:21894023 [GRCh38]
Chr12:22046957 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1671C>T (p.Thr557=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001399768] |
Chr12:21894163 [GRCh38]
Chr12:22047097 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2724A>G (p.Glu908=) |
single nucleotide variant |
not provided [RCV000934318] |
Chr12:21852142 [GRCh38]
Chr12:22005076 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4023+10C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001479141] |
Chr12:21815753 [GRCh38]
Chr12:21968687 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4177C>T (p.Leu1393=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001456012] |
Chr12:21812083 [GRCh38]
Chr12:21965017 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2424+11T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002771001] |
Chr12:21860960 [GRCh38]
Chr12:22013894 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4023+323C>A |
single nucleotide variant |
not provided [RCV001556921] |
Chr12:21815440 [GRCh38]
Chr12:21968374 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2420A>C (p.Glu807Ala) |
single nucleotide variant |
not provided [RCV002464911] |
Chr12:21860975 [GRCh38]
Chr12:22013909 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.816+285C>A |
single nucleotide variant |
not provided [RCV001657051] |
Chr12:21915383 [GRCh38]
Chr12:22068317 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3097-163G>A |
single nucleotide variant |
not provided [RCV001595483] |
Chr12:21845078 [GRCh38]
Chr12:21998012 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.411G>T (p.Leu137=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320207]|Dilated cardiomyopathy 1O [RCV002549883]|not provided [RCV000994875] |
Chr12:21917099 [GRCh38]
Chr12:22070033 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2340-168A>G |
single nucleotide variant |
not provided [RCV001552627] |
Chr12:21861223 [GRCh38]
Chr12:22014157 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4211+252C>T |
single nucleotide variant |
not provided [RCV001559094] |
Chr12:21811797 [GRCh38]
Chr12:21964731 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893-303T>C |
single nucleotide variant |
not provided [RCV001593911] |
Chr12:21816196 [GRCh38]
Chr12:21969130 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2769+165A>G |
single nucleotide variant |
not provided [RCV001549725] |
Chr12:21851932 [GRCh38]
Chr12:22004866 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.285-55del |
deletion |
not provided [RCV001550438] |
Chr12:21926118 [GRCh38]
Chr12:22079052 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1456-149T>C |
single nucleotide variant |
not provided [RCV001636259] |
Chr12:21906437 [GRCh38]
Chr12:22059371 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3097-225T>A |
single nucleotide variant |
not provided [RCV001538401] |
Chr12:21845140 [GRCh38]
Chr12:21998074 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4103-346C>T |
single nucleotide variant |
not provided [RCV001659609] |
Chr12:21812503 [GRCh38]
Chr12:21965437 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3567-159dup |
duplication |
not provided [RCV001696032] |
Chr12:21829191..21829192 [GRCh38]
Chr12:21982125..21982126 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3567-131G>A |
single nucleotide variant |
not provided [RCV001618764] |
Chr12:21829191 [GRCh38]
Chr12:21982125 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3893-164A>C |
single nucleotide variant |
not provided [RCV001638905] |
Chr12:21816057 [GRCh38]
Chr12:21968991 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.142+119C>T |
single nucleotide variant |
not provided [RCV001619187] |
Chr12:21936414 [GRCh38]
Chr12:22089348 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.143-119T>G |
single nucleotide variant |
not provided [RCV001657544] |
Chr12:21934042 [GRCh38]
Chr12:22086976 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4102+55del |
deletion |
not provided [RCV001637444] |
Chr12:21814589 [GRCh38]
Chr12:21967523 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3316-150G>T |
single nucleotide variant |
not provided [RCV001710594] |
Chr12:21842621 [GRCh38]
Chr12:21995555 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1619-22T>C |
single nucleotide variant |
not provided [RCV001594550] |
Chr12:21895337 [GRCh38]
Chr12:22048271 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1011+100_1011+101dup |
duplication |
not provided [RCV001676792] |
Chr12:21912765..21912766 [GRCh38]
Chr12:22065699..22065700 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4024-17G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002073280]|not provided [RCV001699756] |
Chr12:21814739 [GRCh38]
Chr12:21967673 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1455+155A>G |
single nucleotide variant |
not provided [RCV001689328] |
Chr12:21907922 [GRCh38]
Chr12:22060856 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.407-65C>T |
single nucleotide variant |
not provided [RCV001598488] |
Chr12:21917168 [GRCh38]
Chr12:22070102 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2866+56dup |
duplication |
not provided [RCV001716059] |
Chr12:21848088..21848089 [GRCh38]
Chr12:22001022..22001023 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.816+190_816+195del |
deletion |
not provided [RCV001673897] |
Chr12:21915473..21915478 [GRCh38]
Chr12:22068407..22068412 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2506-71T>C |
single nucleotide variant |
not provided [RCV001641138] |
Chr12:21852576 [GRCh38]
Chr12:22005510 [GRCh37]
Chr12:12p12.1 |
benign |
| GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 |
copy number gain |
not provided [RCV001006470] |
Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| NM_020297.4(ABCC9):c.588C>G (p.Phe196Leu) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV001293130] |
Chr12:21915896 [GRCh38]
Chr12:22068830 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.2158G>A (p.Gly720Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001112434]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112433] |
Chr12:21872665 [GRCh38]
Chr12:22025599 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4103-15del |
deletion |
Dilated cardiomyopathy 1O [RCV003509665]|not provided [RCV001813101] |
Chr12:21812172 [GRCh38]
Chr12:21965106 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+693G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001113603]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113604] |
Chr12:21805305 [GRCh38]
Chr12:21958239 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2004G>A (p.Glu668=) |
single nucleotide variant |
not specified [RCV001193522] |
Chr12:21882781 [GRCh38]
Chr12:22035715 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1012-6G>A |
single nucleotide variant |
Cardiomyopathy [RCV001170967] |
Chr12:21910984 [GRCh38]
Chr12:22063918 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2481T>C (p.Tyr827=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001109676]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109677] |
Chr12:21859610 [GRCh38]
Chr12:22012544 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3659A>T (p.Glu1220Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001069586] |
Chr12:21828968 [GRCh38]
Chr12:21981902 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3863T>C (p.Met1288Thr) |
single nucleotide variant |
Cardiomyopathy [RCV001170960] |
Chr12:21817216 [GRCh38]
Chr12:21970150 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3670-311CA[16] |
microsatellite |
not provided [RCV001707235] |
Chr12:21818527..21818530 [GRCh38]
Chr12:21971461..21971464 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+826C>T |
single nucleotide variant |
not specified [RCV001582401] |
Chr12:21805172 [GRCh38]
Chr12:21958106 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs) |
deletion |
ABCC9-related condition [RCV003393792]|Dilated cardiomyopathy 1O [RCV001035175]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002497352]|not provided [RCV001759721] |
Chr12:21887908..21887909 [GRCh38]
Chr12:22040842..22040843 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2340-176G>A |
single nucleotide variant |
not provided [RCV001713427] |
Chr12:21861231 [GRCh38]
Chr12:22014165 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+296A>G |
single nucleotide variant |
not provided [RCV001584635] |
Chr12:21805702 [GRCh38]
Chr12:21958636 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-140_3567-132del |
deletion |
not provided [RCV001692507] |
Chr12:21829192..21829200 [GRCh38]
Chr12:21982126..21982134 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3670-311CA[21] |
microsatellite |
not provided [RCV001611132] |
Chr12:21818526..21818527 [GRCh38]
Chr12:21971460..21971461 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3567-159_3567-158dup |
duplication |
not provided [RCV001713428] |
Chr12:21829191..21829192 [GRCh38]
Chr12:21982125..21982126 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3275T>G (p.Ile1092Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320280]|Dilated cardiomyopathy 1O [RCV001050293] |
Chr12:21844523 [GRCh38]
Chr12:21997457 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2340-176G>T |
single nucleotide variant |
not provided [RCV001616394] |
Chr12:21861231 [GRCh38]
Chr12:22014165 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.573+187T>C |
single nucleotide variant |
not provided [RCV001565980] |
Chr12:21916750 [GRCh38]
Chr12:22069684 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2340-186A>T |
single nucleotide variant |
not provided [RCV001614721] |
Chr12:21861241 [GRCh38]
Chr12:22014175 [GRCh37]
Chr12:12p12.1 |
benign |
| NC_000012.12:g.(?_21933772)_(21933933_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV001031604] |
Chr12:22086706..22086867 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2324C>A (p.Pro775His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001873739]|not provided [RCV001529095] |
Chr12:21862968 [GRCh38]
Chr12:22015902 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2425-1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001231496] |
Chr12:21859667 [GRCh38]
Chr12:22012601 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1669A>G (p.Thr557Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001060200] |
Chr12:21894165 [GRCh38]
Chr12:22047099 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1247T>C (p.Leu416Ser) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV001249744] |
Chr12:21910230 [GRCh38]
Chr12:22063164 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.680C>T (p.Thr227Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001060656] |
Chr12:21915804 [GRCh38]
Chr12:22068738 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.882G>A (p.Gly294=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445387]|Dilated cardiomyopathy 1O [RCV001112530]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112529] |
Chr12:21913001 [GRCh38]
Chr12:22065935 [GRCh37]
Chr12:12p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_020297.4(ABCC9):c.3721G>A (p.Gly1241Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001202561] |
Chr12:21818200 [GRCh38]
Chr12:21971134 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.437T>A (p.Ile146Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327305]|Dilated cardiomyopathy 1O [RCV001051007]|not provided [RCV002223976] |
Chr12:21917073 [GRCh38]
Chr12:22070007 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+784A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002339557]|Dilated cardiomyopathy 1O [RCV001213770] |
Chr12:21805214 [GRCh38]
Chr12:21958148 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.889A>G (p.Ile297Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001036790] |
Chr12:21912994 [GRCh38]
Chr12:22065928 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3673dup (p.Tyr1225fs) |
duplication |
Dilated cardiomyopathy 1O [RCV001237321] |
Chr12:21818247..21818248 [GRCh38]
Chr12:21971181..21971182 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1544G>C (p.Cys515Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001037115] |
Chr12:21906200 [GRCh38]
Chr12:22059134 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.438T>G (p.Ile146Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001054050] |
Chr12:21917072 [GRCh38]
Chr12:22070006 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2056G>A (p.Ala686Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001235506] |
Chr12:21875690 [GRCh38]
Chr12:22028624 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.535C>A (p.Leu179Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001059514] |
Chr12:21916975 [GRCh38]
Chr12:22069909 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4450-1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001038306] |
Chr12:21806061 [GRCh38]
Chr12:21958995 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2330A>C (p.Asn777Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001231657]|not provided [RCV003329385] |
Chr12:21862962 [GRCh38]
Chr12:22015896 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4362A>G (p.Arg1454=) |
single nucleotide variant |
Cardiomyopathy [RCV001170959] |
Chr12:21807433 [GRCh38]
Chr12:21960367 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1150C>G (p.Arg384Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001229143] |
Chr12:21910840 [GRCh38]
Chr12:22063774 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3913C>T (p.His1305Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001054462] |
Chr12:21815873 [GRCh38]
Chr12:21968807 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.67T>A (p.Ser23Thr) |
single nucleotide variant |
Cardiomyopathy [RCV001171152] |
Chr12:21936608 [GRCh38]
Chr12:22089542 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3262C>T (p.Pro1088Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001050869] |
Chr12:21844536 [GRCh38]
Chr12:21997470 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1013T>C (p.Ile338Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355042]|Dilated cardiomyopathy 1O [RCV001055382] |
Chr12:21910977 [GRCh38]
Chr12:22063911 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter) |
single nucleotide variant |
Cardiomyopathy [RCV001192938]|Cardiovascular phenotype [RCV003293980] |
Chr12:21894154 [GRCh38]
Chr12:22047088 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.1911+1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001202304] |
Chr12:21887825 [GRCh38]
Chr12:22040759 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.49G>A (p.Asp17Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372949]|Dilated cardiomyopathy 1O [RCV001041701] |
Chr12:21936626 [GRCh38]
Chr12:22089560 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1802+6C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001056716] |
Chr12:21894026 [GRCh38]
Chr12:22046960 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2462G>A (p.Cys821Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001056717] |
Chr12:21859629 [GRCh38]
Chr12:22012563 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4212-3C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001204162] |
Chr12:21809958 [GRCh38]
Chr12:21962892 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.821A>C (p.Lys274Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001052526] |
Chr12:21913062 [GRCh38]
Chr12:22065996 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.467G>A (p.Cys156Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001214747] |
Chr12:21917043 [GRCh38]
Chr12:22069977 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4156C>T (p.Arg1386Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001228644] |
Chr12:21812104 [GRCh38]
Chr12:21965038 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3141T>C (p.Ile1047=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001112339]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112340] |
Chr12:21844871 [GRCh38]
Chr12:21997805 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3669+5G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001313817] |
Chr12:21828953 [GRCh38]
Chr12:21981887 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2644-19G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002069359]|not provided [RCV001683753]|not specified [RCV001255560] |
Chr12:21852241 [GRCh38]
Chr12:22005175 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.143-81T>G |
single nucleotide variant |
not provided [RCV001581321] |
Chr12:21934004 [GRCh38]
Chr12:22086938 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2826T>G (p.Tyr942Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001349138] |
Chr12:21848190 [GRCh38]
Chr12:22001124 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2644-3T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001303164] |
Chr12:21852225 [GRCh38]
Chr12:22005159 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4023+44del |
deletion |
not provided [RCV001565141] |
Chr12:21815719 [GRCh38]
Chr12:21968653 [GRCh37]
Chr12:12p12.1 |
likely benign |
| GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1 |
copy number loss |
not provided [RCV001258515] |
Chr12:21582333..24920271 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437046]|Dilated cardiomyopathy 1O [RCV001306674]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002493611] |
Chr12:21848198 [GRCh38]
Chr12:22001132 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3073A>G (p.Asn1025Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002319700]|Dilated cardiomyopathy 1O [RCV001327830] |
Chr12:21845626 [GRCh38]
Chr12:21998560 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.38ATA[1] (p.Asn14del) |
microsatellite |
Cardiovascular phenotype [RCV003294211]|Dilated cardiomyopathy 1O [RCV001297520] |
Chr12:21936632..21936634 [GRCh38]
Chr12:22089566..22089568 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001338388]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002493738] |
Chr12:21915761 [GRCh38]
Chr12:22068695 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4050T>G (p.Ser1350Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001317399] |
Chr12:21814696 [GRCh38]
Chr12:21967630 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.201G>A (p.Pro67=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418938]|Dilated cardiomyopathy 1O [RCV001308384] |
Chr12:21933865 [GRCh38]
Chr12:22086799 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.568G>T (p.Val190Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001320275] |
Chr12:21916942 [GRCh38]
Chr12:22069876 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+748T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001317305] |
Chr12:21805250 [GRCh38]
Chr12:21958184 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+718T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001296739] |
Chr12:21805280 [GRCh38]
Chr12:21958214 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1256T>C (p.Ile419Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418983]|Dilated cardiomyopathy 1O [RCV001327554] |
Chr12:21910221 [GRCh38]
Chr12:22063155 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2948G>C (p.Trp983Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001342851] |
Chr12:21845751 [GRCh38]
Chr12:21998685 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3836T>G (p.Val1279Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001343198] |
Chr12:21817243 [GRCh38]
Chr12:21970177 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.596C>G (p.Pro199Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001320407] |
Chr12:21915888 [GRCh38]
Chr12:22068822 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3669+4C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001871745]|not provided [RCV001586114]|not specified [RCV001293511] |
Chr12:21828954 [GRCh38]
Chr12:21981888 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3606G>A (p.Thr1202=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456415]|Dilated cardiomyopathy 1O [RCV001316186] |
Chr12:21829021 [GRCh38]
Chr12:21981955 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2348C>T (p.Ala783Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001337766] |
Chr12:21861047 [GRCh38]
Chr12:22013981 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4328C>G (p.Thr1443Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001362326] |
Chr12:21807467 [GRCh38]
Chr12:21960401 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4144C>T (p.Leu1382=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329482]|Dilated cardiomyopathy 1O [RCV001433623] |
Chr12:21812116 [GRCh38]
Chr12:21965050 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NC_000012.11:g.(?_22089457)_(22089618_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV001374139] |
Chr12:22089457..22089618 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3227T>C (p.Ile1076Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447374]|Dilated cardiomyopathy 1O [RCV001325302]|not provided [RCV001797172] |
Chr12:21844785 [GRCh38]
Chr12:21997719 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2171C>T (p.Thr724Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001368467] |
Chr12:21872652 [GRCh38]
Chr12:22025586 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_22086706)_(22086867_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV001295948] |
Chr12:22086706..22086867 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4094T>C (p.Ile1365Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001882536]|not specified [RCV001420948] |
Chr12:21814652 [GRCh38]
Chr12:21967586 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3670-4A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001414742] |
Chr12:21818255 [GRCh38]
Chr12:21971189 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.883C>T (p.Arg295Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001368475] |
Chr12:21913000 [GRCh38]
Chr12:22065934 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1400C>T (p.Ala467Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393719]|Dilated cardiomyopathy 1O [RCV001302964] |
Chr12:21908132 [GRCh38]
Chr12:22061066 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2586C>A (p.Asp862Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298565]|Dilated cardiomyopathy 1O [RCV001359649] |
Chr12:21852425 [GRCh38]
Chr12:22005359 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1551T>C (p.Ser517=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001392714]|not specified [RCV003331148] |
Chr12:21906193 [GRCh38]
Chr12:22059127 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2726A>G (p.His909Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001360617] |
Chr12:21852140 [GRCh38]
Chr12:22005074 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3645C>T (p.Ala1215=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160737]|Dilated cardiomyopathy 1O [RCV001433327] |
Chr12:21828982 [GRCh38]
Chr12:21981916 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3265C>G (p.Leu1089Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001337546] |
Chr12:21844533 [GRCh38]
Chr12:21997467 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1802+10G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001433774] |
Chr12:21894022 [GRCh38]
Chr12:22046956 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+693G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001362551] |
Chr12:21805305 [GRCh38]
Chr12:21958239 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1649C>T (p.Ala550Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001362605] |
Chr12:21895285 [GRCh38]
Chr12:22048219 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+3_2769+6del |
deletion |
Dilated cardiomyopathy 1O [RCV001299039] |
Chr12:21852091..21852094 [GRCh38]
Chr12:22005025..22005028 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3504G>C (p.Gln1168His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001318482] |
Chr12:21838140 [GRCh38]
Chr12:21991074 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3500C>G (p.Thr1167Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001351867] |
Chr12:21838144 [GRCh38]
Chr12:21991078 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3266T>A (p.Leu1089Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001297868] |
Chr12:21844532 [GRCh38]
Chr12:21997466 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2371C>T (p.Gln791Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001322977] |
Chr12:21861024 [GRCh38]
Chr12:22013958 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2422_2423del (p.Arg808fs) |
microsatellite |
Dilated cardiomyopathy 1O [RCV001327396] |
Chr12:21860972..21860973 [GRCh38]
Chr12:22013906..22013907 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3275T>C (p.Ile1092Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001327506] |
Chr12:21844523 [GRCh38]
Chr12:21997457 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3244A>G (p.Arg1082Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001342418] |
Chr12:21844768 [GRCh38]
Chr12:21997702 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3399T>A (p.Pro1133=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001372237] |
Chr12:21842388 [GRCh38]
Chr12:21995322 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.130A>G (p.Ile44Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001314801] |
Chr12:21936545 [GRCh38]
Chr12:22089479 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1664T>C (p.Phe555Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001336861]|not provided [RCV002221626] |
Chr12:21894170 [GRCh38]
Chr12:22047104 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NC_000012.11:g.(?_21958098)_(22089618_?)dup |
duplication |
Dilated cardiomyopathy 1O [RCV001323305] |
Chr12:21958098..22089618 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4313T>C (p.Leu1438Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001347516] |
Chr12:21809854 [GRCh38]
Chr12:21962788 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3567-3C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001341276] |
Chr12:21829063 [GRCh38]
Chr12:21981997 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+824G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001320789]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002499623] |
Chr12:21805174 [GRCh38]
Chr12:21958108 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2977_2978delinsAA (p.Leu993Lys) |
indel |
Dilated cardiomyopathy 1O [RCV001350302] |
Chr12:21845721..21845722 [GRCh38]
Chr12:21998655..21998656 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1012-9G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001295314] |
Chr12:21910987 [GRCh38]
Chr12:22063921 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2609C>T (p.Thr870Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001350468] |
Chr12:21852402 [GRCh38]
Chr12:22005336 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.438del (p.Thr147fs) |
deletion |
Dilated cardiomyopathy 1O [RCV001338361] |
Chr12:21917072 [GRCh38]
Chr12:22070006 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3192T>A (p.Ala1064=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447468]|Dilated cardiomyopathy 1O [RCV001363637] |
Chr12:21844820 [GRCh38]
Chr12:21997754 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1911+5G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001363872] |
Chr12:21887821 [GRCh38]
Chr12:22040755 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.325G>A (p.Val109Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001304983] |
Chr12:21926023 [GRCh38]
Chr12:22078957 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3131G>A (p.Gly1044Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003375213]|Dilated cardiomyopathy 1O [RCV001318157] |
Chr12:21844881 [GRCh38]
Chr12:21997815 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2983A>G (p.Ile995Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437010]|Dilated cardiomyopathy 1O [RCV001297048] |
Chr12:21845716 [GRCh38]
Chr12:21998650 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2529_2530del (p.Ile844fs) |
deletion |
Dilated cardiomyopathy 1O [RCV001366784] |
Chr12:21852481..21852482 [GRCh38]
Chr12:22005415..22005416 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2081G>C (p.Arg694Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001316367] |
Chr12:21875665 [GRCh38]
Chr12:22028599 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3602T>A (p.Leu1201Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001312413] |
Chr12:21829025 [GRCh38]
Chr12:21981959 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.816+8A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001421081] |
Chr12:21915660 [GRCh38]
Chr12:22068594 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2721T>G (p.Tyr907Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001296572] |
Chr12:21852145 [GRCh38]
Chr12:22005079 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3316-1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001298809] |
Chr12:21842472 [GRCh38]
Chr12:21995406 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4371T>C (p.Phe1457=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001395470] |
Chr12:21807424 [GRCh38]
Chr12:21960358 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4394G>A (p.Arg1465His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001308741] |
Chr12:21807401 [GRCh38]
Chr12:21960335 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2391A>G (p.Leu797=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432225]|Dilated cardiomyopathy 1O [RCV001440818] |
Chr12:21861004 [GRCh38]
Chr12:22013938 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.93G>T (p.Leu31=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377754]|Dilated cardiomyopathy 1O [RCV001454562] |
Chr12:21936582 [GRCh38]
Chr12:22089516 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4146G>A (p.Leu1382=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001479191] |
Chr12:21812114 [GRCh38]
Chr12:21965048 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002324117]|Dilated cardiomyopathy 1O [RCV001865939]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002476809]|not provided [RCV001508324] |
Chr12:21910861 [GRCh38]
Chr12:22063795 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3432T>C (p.Val1144=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298643]|Dilated cardiomyopathy 1O [RCV001394179] |
Chr12:21842355 [GRCh38]
Chr12:21995289 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2952C>T (p.Arg984=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439027]|Dilated cardiomyopathy 1O [RCV001438723] |
Chr12:21845747 [GRCh38]
Chr12:21998681 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3096+9G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001451576] |
Chr12:21845594 [GRCh38]
Chr12:21998528 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3009G>A (p.Leu1003=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001428752] |
Chr12:21845690 [GRCh38]
Chr12:21998624 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2112G>C (p.Val704=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001503121] |
Chr12:21872711 [GRCh38]
Chr12:22025645 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1320+193T>A |
single nucleotide variant |
not provided [RCV001527779] |
Chr12:21909964 [GRCh38]
Chr12:22062898 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3345T>C (p.Thr1115=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001493706] |
Chr12:21842442 [GRCh38]
Chr12:21995376 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+782C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001488668] |
Chr12:21805216 [GRCh38]
Chr12:21958150 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+10A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001398671] |
Chr12:21805988 [GRCh38]
Chr12:21958922 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3984T>C (p.Val1328=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358947]|Dilated cardiomyopathy 1O [RCV001424483] |
Chr12:21815802 [GRCh38]
Chr12:21968736 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.447A>C (p.Thr149=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001443322] |
Chr12:21917063 [GRCh38]
Chr12:22069997 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3245+8del |
deletion |
Dilated cardiomyopathy 1O [RCV001445897] |
Chr12:21844759 [GRCh38]
Chr12:21997693 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2023A>G (p.Thr675Ala) |
single nucleotide variant |
not provided [RCV001529167] |
Chr12:21875723 [GRCh38]
Chr12:22028657 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.411G>A (p.Leu137=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001409556] |
Chr12:21917099 [GRCh38]
Chr12:22070033 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3972T>C (p.Asn1324=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001448864] |
Chr12:21815814 [GRCh38]
Chr12:21968748 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.309C>T (p.His103=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001407240] |
Chr12:21926039 [GRCh38]
Chr12:22078973 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.993G>A (p.Gly331=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001400256] |
Chr12:21912890 [GRCh38]
Chr12:22065824 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2425-6C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001446815] |
Chr12:21859672 [GRCh38]
Chr12:22012606 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3591T>C (p.Arg1197=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341951]|Dilated cardiomyopathy 1O [RCV001435938] |
Chr12:21829036 [GRCh38]
Chr12:21981970 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.733C>T (p.Leu245=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001410220] |
Chr12:21915751 [GRCh38]
Chr12:22068685 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1446A>G (p.Lys482=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395880]|Dilated cardiomyopathy 1O [RCV001393248] |
Chr12:21908086 [GRCh38]
Chr12:22061020 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+771T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001445406] |
Chr12:21805227 [GRCh38]
Chr12:21958161 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3273G>A (p.Leu1091=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001393805] |
Chr12:21844525 [GRCh38]
Chr12:21997459 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2475G>T (p.Ala825=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001406388] |
Chr12:21859616 [GRCh38]
Chr12:22012550 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3771+8T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001432486] |
Chr12:21818142 [GRCh38]
Chr12:21971076 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-281_3670-274del |
deletion |
not provided [RCV001587873] |
Chr12:21818525..21818532 [GRCh38]
Chr12:21971459..21971466 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1456-10del |
deletion |
Dilated cardiomyopathy 1O [RCV001495205]|not specified [RCV003323891] |
Chr12:21906298 [GRCh38]
Chr12:22059232 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.4212-285T>C |
single nucleotide variant |
not provided [RCV001686467] |
Chr12:21810240 [GRCh38]
Chr12:21963174 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3933G>A (p.Glu1311=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359077]|Dilated cardiomyopathy 1O [RCV001479458] |
Chr12:21815853 [GRCh38]
Chr12:21968787 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3316-6T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001496173] |
Chr12:21842477 [GRCh38]
Chr12:21995411 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-75= |
single nucleotide variant |
not provided [RCV001649527] |
Chr12:21864552 [GRCh38]
Chr12:22017486 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2093-36C>T |
single nucleotide variant |
not provided [RCV001713284] |
Chr12:21872766 [GRCh38]
Chr12:22025700 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3435C>A (p.Ala1145=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160955]|Dilated cardiomyopathy 1O [RCV001483428] |
Chr12:21842352 [GRCh38]
Chr12:21995286 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-16dup |
duplication |
Dilated cardiomyopathy 1O [RCV001511162] |
Chr12:21913072..21913073 [GRCh38]
Chr12:22066006..22066007 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.3670-231GATATA[3] |
microsatellite |
not provided [RCV001653411] |
Chr12:21818459..21818464 [GRCh38]
Chr12:21971393..21971398 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4116T>C (p.Ile1372=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001497382] |
Chr12:21812144 [GRCh38]
Chr12:21965078 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3640G>A (p.Ala1214Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002466681]|not provided [RCV001528576] |
Chr12:21828987 [GRCh38]
Chr12:21981921 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3893-149A>C |
single nucleotide variant |
not provided [RCV001715549] |
Chr12:21816042 [GRCh38]
Chr12:21968976 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2199-9T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001453013] |
Chr12:21864486 [GRCh38]
Chr12:22017420 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.240G>T (p.Leu80=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001456115] |
Chr12:21933826 [GRCh38]
Chr12:22086760 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1092G>T (p.Leu364=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003375308]|Dilated cardiomyopathy 1O [RCV001456334] |
Chr12:21910898 [GRCh38]
Chr12:22063832 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-311CA[20] |
microsatellite |
not provided [RCV001591570] |
Chr12:21818526..21818527 [GRCh38]
Chr12:21971460..21971461 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3772-239G>C |
single nucleotide variant |
not provided [RCV001589748] |
Chr12:21817546 [GRCh38]
Chr12:21970480 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-231_3670-228del |
microsatellite |
not provided [RCV001612068] |
Chr12:21818479..21818482 [GRCh38]
Chr12:21971413..21971416 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4536G>A (p.Thr1512=) |
single nucleotide variant |
not provided [RCV001592024] |
Chr12:21801158 [GRCh38]
Chr12:21954092 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.406+7A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001453254] |
Chr12:21925935 [GRCh38]
Chr12:22078869 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.846T>G (p.Thr282=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449289]|Dilated cardiomyopathy 1O [RCV001488843] |
Chr12:21913037 [GRCh38]
Chr12:22065971 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3559G>T (p.Ala1187Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001868383]|not provided [RCV001700618] |
Chr12:21838085 [GRCh38]
Chr12:21991019 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3420G>A (p.Leu1140=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001497795] |
Chr12:21842367 [GRCh38]
Chr12:21995301 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3676C>T (p.Leu1226=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001451401] |
Chr12:21818245 [GRCh38]
Chr12:21971179 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.921T>C (p.Ala307=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001462807] |
Chr12:21912962 [GRCh38]
Chr12:22065896 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1359A>C (p.Gly453=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001491540] |
Chr12:21908173 [GRCh38]
Chr12:22061107 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.143-6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001497493] |
Chr12:21933929 [GRCh38]
Chr12:22086863 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1912-76A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001514626]|not provided [RCV001676002] |
Chr12:21882949 [GRCh38]
Chr12:22035883 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4512+776C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001406383] |
Chr12:21805222 [GRCh38]
Chr12:21958156 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4194A>G (p.Leu1398=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001500632] |
Chr12:21812066 [GRCh38]
Chr12:21965000 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2343C>T (p.Tyr781=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001498835] |
Chr12:21861052 [GRCh38]
Chr12:22013986 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2571A>G (p.Lys857=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001485346] |
Chr12:21852440 [GRCh38]
Chr12:22005374 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2505+8T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001424500] |
Chr12:21859578 [GRCh38]
Chr12:22012512 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1618+7T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001499804] |
Chr12:21906119 [GRCh38]
Chr12:22059053 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2622G>A (p.Gln874=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432357]|Dilated cardiomyopathy 1O [RCV001484236] |
Chr12:21852389 [GRCh38]
Chr12:22005323 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys) |
single nucleotide variant |
ABCC9-related condition [RCV003416419]|Cardiovascular phenotype [RCV002449407]|Dilated cardiomyopathy 1O [RCV002032773]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002488509]|not provided [RCV001756611] |
Chr12:21845638 [GRCh38]
Chr12:21998572 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2506-6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003108455] |
Chr12:21852511 [GRCh38]
Chr12:22005445 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.931G>C (p.Gly311Arg) |
single nucleotide variant |
not provided [RCV001756756] |
Chr12:21912952 [GRCh38]
Chr12:22065886 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3956T>C (p.Val1319Ala) |
single nucleotide variant |
not provided [RCV001754854] |
Chr12:21815830 [GRCh38]
Chr12:21968764 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3892+1G>A |
single nucleotide variant |
not provided [RCV001730312] |
Chr12:21817186 [GRCh38]
Chr12:21970120 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002541170]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002471162] |
Chr12:21829022 [GRCh38]
Chr12:21981956 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.2954A>C (p.Tyr985Ser) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV003444087] |
Chr12:21845745 [GRCh38]
Chr12:21998679 [GRCh37]
Chr12:12p12.1 |
pathogenic|likely pathogenic |
| NM_020297.4(ABCC9):c.621C>A (p.Asp207Glu) |
single nucleotide variant |
not provided [RCV001780627] |
Chr12:21915863 [GRCh38]
Chr12:22068797 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.3371C>A (p.Ala1124Asp) |
single nucleotide variant |
not provided [RCV002284841] |
Chr12:21842416 [GRCh38]
Chr12:21995350 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3757C>G (p.Leu1253Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002543949]|not provided [RCV001758171] |
Chr12:21818164 [GRCh38]
Chr12:21971098 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.728T>C (p.Ile243Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002544046]|not provided [RCV001754534] |
Chr12:21915756 [GRCh38]
Chr12:22068690 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2611C>G (p.His871Asp) |
single nucleotide variant |
not provided [RCV001754663] |
Chr12:21852400 [GRCh38]
Chr12:22005334 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2708A>T (p.Asp903Val) |
single nucleotide variant |
not provided [RCV001767056] |
Chr12:21852158 [GRCh38]
Chr12:22005092 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.406G>T (p.Ala136Ser) |
single nucleotide variant |
not provided [RCV001764956] |
Chr12:21925942 [GRCh38]
Chr12:22078876 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3644C>A (p.Ala1215Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619748]|not provided [RCV001752605] |
Chr12:21828983 [GRCh38]
Chr12:21981917 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4330G>C (p.Glu1444Gln) |
single nucleotide variant |
not provided [RCV001767540] |
Chr12:21807465 [GRCh38]
Chr12:21960399 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.143-13CT[2] |
microsatellite |
Cardiomyopathy [RCV001799358] |
Chr12:21933931..21933932 [GRCh38]
Chr12:22086865..22086866 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1841T>C (p.Ile614Thr) |
single nucleotide variant |
Cardiomyopathy [RCV001799359]|Inborn genetic diseases [RCV002541321] |
Chr12:21887896 [GRCh38]
Chr12:22040830 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.764T>C (p.Met255Thr) |
single nucleotide variant |
Cardiomyopathy [RCV001799360]|Dilated cardiomyopathy 1O [RCV001885234] |
Chr12:21915720 [GRCh38]
Chr12:22068654 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3912A>C (p.Glu1304Asp) |
single nucleotide variant |
not provided [RCV001767633] |
Chr12:21815874 [GRCh38]
Chr12:21968808 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1176T>A (p.Tyr392Ter) |
single nucleotide variant |
not provided [RCV001780623] |
Chr12:21910301 [GRCh38]
Chr12:22063235 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.1547A>C (p.Lys516Thr) |
single nucleotide variant |
not provided [RCV001769460] |
Chr12:21906197 [GRCh38]
Chr12:22059131 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4630T>G (p.Phe1544Val) |
single nucleotide variant |
not provided [RCV001768831] |
Chr12:21801064 [GRCh38]
Chr12:21953998 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.90C>T (p.Asn30=) |
single nucleotide variant |
Cardiomyopathy [RCV001799361] |
Chr12:21936585 [GRCh38]
Chr12:22089519 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4039C>T (p.Arg1347Cys) |
single nucleotide variant |
not provided [RCV001780625] |
Chr12:21814707 [GRCh38]
Chr12:21967641 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.4018C>G (p.Gln1340Glu) |
single nucleotide variant |
not provided [RCV001760684] |
Chr12:21815768 [GRCh38]
Chr12:21968702 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3625T>C (p.Tyr1209His) |
single nucleotide variant |
not provided [RCV001781788] |
Chr12:21829002 [GRCh38]
Chr12:21981936 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.1333G>C (p.Val445Leu) |
single nucleotide variant |
not provided [RCV001758622] |
Chr12:21908199 [GRCh38]
Chr12:22061133 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1600del (p.Leu534fs) |
deletion |
Dilated cardiomyopathy 1O [RCV001985412] |
Chr12:21906144 [GRCh38]
Chr12:22059078 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4322T>C (p.Val1441Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001864432] |
Chr12:21807473 [GRCh38]
Chr12:21960407 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1525G>A (p.Ala509Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001985645] |
Chr12:21906219 [GRCh38]
Chr12:22059153 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3464T>G (p.Val1155Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001988468] |
Chr12:21842323 [GRCh38]
Chr12:21995257 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1867G>T (p.Glu623Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002025280] |
Chr12:21887870 [GRCh38]
Chr12:22040804 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2092+5G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001915403] |
Chr12:21875649 [GRCh38]
Chr12:22028583 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.364T>G (p.Tyr122Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002042921] |
Chr12:21925984 [GRCh38]
Chr12:22078918 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.142+4A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001863787] |
Chr12:21936529 [GRCh38]
Chr12:22089463 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2792C>T (p.Thr931Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001987151] |
Chr12:21848224 [GRCh38]
Chr12:22001158 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2102C>A (p.Thr701Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001894389] |
Chr12:21872721 [GRCh38]
Chr12:22025655 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2357A>G (p.Asp786Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001971471] |
Chr12:21861038 [GRCh38]
Chr12:22013972 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.219G>T (p.Trp73Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001948243] |
Chr12:21933847 [GRCh38]
Chr12:22086781 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2615A>G (p.Lys872Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002044926] |
Chr12:21852396 [GRCh38]
Chr12:22005330 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2751A>G (p.Gln917=) |
single nucleotide variant |
ABCC9-related condition [RCV003948856]|Dilated cardiomyopathy 1O [RCV001971353] |
Chr12:21852115 [GRCh38]
Chr12:22005049 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1151G>A (p.Arg384His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001914275] |
Chr12:21910839 [GRCh38]
Chr12:22063773 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3096+14G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001971362] |
Chr12:21845589 [GRCh38]
Chr12:21998523 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.2471G>A (p.Arg824Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001871116] |
Chr12:21859620 [GRCh38]
Chr12:22012554 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2000C>T (p.Thr667Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001968584] |
Chr12:21882785 [GRCh38]
Chr12:22035719 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2935T>C (p.Trp979Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001964811] |
Chr12:21845764 [GRCh38]
Chr12:21998698 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2245A>T (p.Arg749Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425188]|Dilated cardiomyopathy 1O [RCV001911278] |
Chr12:21863047 [GRCh38]
Chr12:22015981 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3179T>C (p.Met1060Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002040296] |
Chr12:21844833 [GRCh38]
Chr12:21997767 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.728T>G (p.Ile243Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001966449] |
Chr12:21915756 [GRCh38]
Chr12:22068690 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.795A>G (p.Lys265=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001910305] |
Chr12:21915689 [GRCh38]
Chr12:22068623 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3668C>A (p.Thr1223Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002003453] |
Chr12:21828959 [GRCh38]
Chr12:21981893 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1946G>A (p.Arg649Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001893481] |
Chr12:21882839 [GRCh38]
Chr12:22035773 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3293_3294delinsAA (p.Ala1098Glu) |
indel |
Dilated cardiomyopathy 1O [RCV002022614] |
Chr12:21844504..21844505 [GRCh38]
Chr12:21997438..21997439 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2155C>T (p.Leu719Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001890603] |
Chr12:21872668 [GRCh38]
Chr12:22025602 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) |
copy number gain |
not specified [RCV002052955] |
Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895) |
copy number gain |
not specified [RCV002052974] |
Chr12:17884992..26704895 [GRCh37]
Chr12:12p12.3-11.23 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) |
copy number gain |
not specified [RCV002052957] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.3275T>A (p.Ile1092Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001969852] |
Chr12:21844523 [GRCh38]
Chr12:21997457 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.620A>C (p.Asp207Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001927813] |
Chr12:21915864 [GRCh38]
Chr12:22068798 [GRCh37]
Chr12:12p12.1 |
likely pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.2418A>T (p.Gly806=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001928245] |
Chr12:21860977 [GRCh38]
Chr12:22013911 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1492A>G (p.Ile498Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001889806] |
Chr12:21906252 [GRCh38]
Chr12:22059186 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2059A>G (p.Thr687Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001966689] |
Chr12:21875687 [GRCh38]
Chr12:22028621 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.347C>A (p.Thr116Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001987067] |
Chr12:21926001 [GRCh38]
Chr12:22078935 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1803-1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001895438] |
Chr12:21887935 [GRCh38]
Chr12:22040869 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4103-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002324214]|not specified [RCV001844626] |
Chr12:21812158 [GRCh38]
Chr12:21965092 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+802C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001895132] |
Chr12:21805196 [GRCh38]
Chr12:21958130 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002007995]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002484891] |
Chr12:21910843 [GRCh38]
Chr12:22063777 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+691_4512+701del |
deletion |
Dilated cardiomyopathy 1O [RCV001947505] |
Chr12:21805297..21805307 [GRCh38]
Chr12:21958231..21958241 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1654C>G (p.Leu552Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001970354] |
Chr12:21895280 [GRCh38]
Chr12:22048214 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4498G>A (p.Val1500Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001823533] |
Chr12:21806012 [GRCh38]
Chr12:21958946 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4285A>T (p.Asn1429Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331399]|Dilated cardiomyopathy 1O [RCV001892482] |
Chr12:21809882 [GRCh38]
Chr12:21962816 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3571G>A (p.Glu1191Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001894647] |
Chr12:21829056 [GRCh38]
Chr12:21981990 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p12.1(chr12:21759357-22017890) |
copy number gain |
not specified [RCV002052980] |
Chr12:21759357..22017890 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p12.1(chr12:22023587-22086710) |
copy number loss |
not specified [RCV002052981] |
Chr12:22023587..22086710 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1057_1073dup (p.Phe359_Leu360insTerPhe) |
duplication |
Dilated cardiomyopathy 1O [RCV002003783] |
Chr12:21910916..21910917 [GRCh38]
Chr12:22063850..22063851 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3502C>T (p.Gln1168Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001969109] |
Chr12:21838142 [GRCh38]
Chr12:21991076 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4316-11C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002021472] |
Chr12:21807490 [GRCh38]
Chr12:21960424 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.71G>C (p.Cys24Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002043625] |
Chr12:21936604 [GRCh38]
Chr12:22089538 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) |
copy number gain |
not specified [RCV002052958] |
Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| NM_020297.4(ABCC9):c.2237+1G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001963699] |
Chr12:21864438 [GRCh38]
Chr12:22017372 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1455T>A (p.Leu485=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001943198] |
Chr12:21908077 [GRCh38]
Chr12:22061011 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1051G>T (p.Ala351Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002010515] |
Chr12:21910939 [GRCh38]
Chr12:22063873 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_21590665)_(22089608_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV001920617] |
Chr12:21590665..22089608 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2903C>T (p.Ser968Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001963387] |
Chr12:21845796 [GRCh38]
Chr12:21998730 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1168A>G (p.Met390Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001887790] |
Chr12:21910309 [GRCh38]
Chr12:22063243 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3998A>G (p.Lys1333Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002000524] |
Chr12:21815788 [GRCh38]
Chr12:21968722 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3269del (p.Gly1090fs) |
deletion |
Dilated cardiomyopathy 1O [RCV001906363] |
Chr12:21844529 [GRCh38]
Chr12:21997463 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1619-2A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001962063] |
Chr12:21895317 [GRCh38]
Chr12:22048251 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-3C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001979420] |
Chr12:21848249 [GRCh38]
Chr12:22001183 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1164+4T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002324366]|Dilated cardiomyopathy 1O [RCV001962722] |
Chr12:21910822 [GRCh38]
Chr12:22063756 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+780C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001888337] |
Chr12:21805218 [GRCh38]
Chr12:21958152 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3923A>G (p.Gln1308Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001918701] |
Chr12:21815863 [GRCh38]
Chr12:21968797 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2795T>G (p.Leu932Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303679]|Dilated cardiomyopathy 1O [RCV002036878] |
Chr12:21848221 [GRCh38]
Chr12:22001155 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.35C>T (p.Ser12Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001921731] |
Chr12:21936640 [GRCh38]
Chr12:22089574 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772A>C (p.Ile1258Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002037995] |
Chr12:21817307 [GRCh38]
Chr12:21970241 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1736A>G (p.His579Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002038788]|not provided [RCV003481254] |
Chr12:21894098 [GRCh38]
Chr12:22047032 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1182A>C (p.Lys394Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001943729] |
Chr12:21910295 [GRCh38]
Chr12:22063229 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1912-5T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001997087] |
Chr12:21882878 [GRCh38]
Chr12:22035812 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1164+1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002035708] |
Chr12:21910825 [GRCh38]
Chr12:22063759 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3883G>A (p.Gly1295Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002000720] |
Chr12:21817196 [GRCh38]
Chr12:21970130 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.595C>A (p.Pro199Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359411]|Dilated cardiomyopathy 1O [RCV001943035] |
Chr12:21915889 [GRCh38]
Chr12:22068823 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4493G>A (p.Arg1498Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001954179] |
Chr12:21806017 [GRCh38]
Chr12:21958951 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4024-12C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001954415] |
Chr12:21814734 [GRCh38]
Chr12:21967668 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001917845]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002490189] |
Chr12:21926053 [GRCh38]
Chr12:22078987 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.48C>A (p.Asn16Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002030762] |
Chr12:21936627 [GRCh38]
Chr12:22089561 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.307C>T (p.His103Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002013305] |
Chr12:21926041 [GRCh38]
Chr12:22078975 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2199-1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001954495] |
Chr12:21864478 [GRCh38]
Chr12:22017412 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2703C>A (p.Thr901=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001920557] |
Chr12:21852163 [GRCh38]
Chr12:22005097 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4280T>C (p.Leu1427Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001990005] |
Chr12:21809887 [GRCh38]
Chr12:21962821 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.817-12T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001956541] |
Chr12:21913078 [GRCh38]
Chr12:22066012 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NC_000012.11:g.(?_21590665)_(22089608_?)dup |
duplication |
Dilated cardiomyopathy 1O [RCV001958184]|not provided [RCV001958183] |
Chr12:21590665..22089608 [GRCh37]
Chr12:12p12.1 |
uncertain significance|no classifications from unflagged records |
| NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001916998]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002484559] |
Chr12:21895277 [GRCh38]
Chr12:22048211 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4237T>G (p.Cys1413Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001867755] |
Chr12:21809930 [GRCh38]
Chr12:21962864 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4166T>C (p.Leu1389Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002046213] |
Chr12:21812094 [GRCh38]
Chr12:21965028 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.854_856dup (p.Ile285_Trp286insLeu) |
duplication |
Dilated cardiomyopathy 1O [RCV001973398] |
Chr12:21913026..21913027 [GRCh38]
Chr12:22065960..22065961 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_22078856)_(22079017_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV001992955] |
Chr12:22078856..22079017 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2606T>A (p.Val869Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002028918] |
Chr12:21852405 [GRCh38]
Chr12:22005339 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3669+4C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001902874] |
Chr12:21828954 [GRCh38]
Chr12:21981888 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1321-2A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002030384] |
Chr12:21908213 [GRCh38]
Chr12:22061147 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3461G>C (p.Arg1154Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001901407] |
Chr12:21842326 [GRCh38]
Chr12:21995260 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1022_1032dup (p.Lys345fs) |
duplication |
Dilated cardiomyopathy 1O [RCV001884941] |
Chr12:21910957..21910958 [GRCh38]
Chr12:22063891..22063892 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.407-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002324414]|Dilated cardiomyopathy 1O [RCV001960854] |
Chr12:21917108 [GRCh38]
Chr12:22070042 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3894T>A (p.Asp1298Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003167159]|Dilated cardiomyopathy 1O [RCV001925715] |
Chr12:21815892 [GRCh38]
Chr12:21968826 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3316-7C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002028351] |
Chr12:21842478 [GRCh38]
Chr12:21995412 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1011+6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001955900] |
Chr12:21912866 [GRCh38]
Chr12:22065800 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1320+9A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001976881] |
Chr12:21910148 [GRCh38]
Chr12:22063082 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3096+4del |
deletion |
Dilated cardiomyopathy 1O [RCV001924089] |
Chr12:21845599 [GRCh38]
Chr12:21998533 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.268_269delinsTT (p.Gly90Phe) |
indel |
Dilated cardiomyopathy 1O [RCV001878202] |
Chr12:21933797..21933798 [GRCh38]
Chr12:22086731..22086732 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.867G>A (p.Met289Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001924836] |
Chr12:21913016 [GRCh38]
Chr12:22065950 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+747G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001901251] |
Chr12:21805251 [GRCh38]
Chr12:21958185 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2290G>T (p.Ala764Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001934519] |
Chr12:21863002 [GRCh38]
Chr12:22015936 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1927A>C (p.Asn643His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001923645] |
Chr12:21882858 [GRCh38]
Chr12:22035792 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3329_3332del (p.Thr1110fs) |
deletion |
Dilated cardiomyopathy 1O [RCV002032335] |
Chr12:21842455..21842458 [GRCh38]
Chr12:21995389..21995392 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2416G>A (p.Gly806Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002019801] |
Chr12:21860979 [GRCh38]
Chr12:22013913 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2090C>T (p.Thr697Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001898977] |
Chr12:21875656 [GRCh38]
Chr12:22028590 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.895C>T (p.Leu299Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001938645] |
Chr12:21912988 [GRCh38]
Chr12:22065922 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.21dup (p.Asn8Ter) |
duplication |
Cardiovascular phenotype [RCV002425181]|Dilated cardiomyopathy 1O [RCV001884057] |
Chr12:21936653..21936654 [GRCh38]
Chr12:22089587..22089588 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2768del (p.Lys923fs) |
deletion |
Cardiovascular phenotype [RCV002440985]|Dilated cardiomyopathy 1O [RCV001884727]|not provided [RCV002223320] |
Chr12:21852098 [GRCh38]
Chr12:22005032 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1319del (p.Gln440fs) |
deletion |
Dilated cardiomyopathy 1O [RCV001939935] |
Chr12:21910158 [GRCh38]
Chr12:22063092 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.809A>C (p.Glu270Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001999295] |
Chr12:21915675 [GRCh38]
Chr12:22068609 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4411A>T (p.Ile1471Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001924260] |
Chr12:21807384 [GRCh38]
Chr12:21960318 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.55G>A (p.Val19Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001960249] |
Chr12:21936620 [GRCh38]
Chr12:22089554 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2340-7C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001960093] |
Chr12:21861062 [GRCh38]
Chr12:22013996 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.686G>T (p.Trp229Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001918440] |
Chr12:21915798 [GRCh38]
Chr12:22068732 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3459_3460delinsAA (p.Phe1153Leu) |
indel |
Dilated cardiomyopathy 1O [RCV002051418] |
Chr12:21842327..21842328 [GRCh38]
Chr12:21995261..21995262 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2506-4G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001884407] |
Chr12:21852509 [GRCh38]
Chr12:22005443 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.4512+737G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001990865] |
Chr12:21805261 [GRCh38]
Chr12:21958195 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1659+18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001956477] |
Chr12:21895257 [GRCh38]
Chr12:22048191 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.983C>A (p.Thr328Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002047234] |
Chr12:21912900 [GRCh38]
Chr12:22065834 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1861A>G (p.Thr621Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001904188] |
Chr12:21887876 [GRCh38]
Chr12:22040810 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3845T>C (p.Val1282Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001866279] |
Chr12:21817234 [GRCh38]
Chr12:21970168 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2182A>G (p.Lys728Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001957893] |
Chr12:21872641 [GRCh38]
Chr12:22025575 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2309T>C (p.Ile770Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001917028] |
Chr12:21862983 [GRCh38]
Chr12:22015917 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3892+6G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001919628] |
Chr12:21817181 [GRCh38]
Chr12:21970115 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+3A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001881274] |
Chr12:21852094 [GRCh38]
Chr12:22005028 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-8T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001900989] |
Chr12:21817315 [GRCh38]
Chr12:21970249 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.284+6T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001916027] |
Chr12:21933776 [GRCh38]
Chr12:22086710 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3556C>A (p.Arg1186=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458908]|Dilated cardiomyopathy 1O [RCV001995189] |
Chr12:21838088 [GRCh38]
Chr12:21991022 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.4211+2T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001866740] |
Chr12:21812047 [GRCh38]
Chr12:21964981 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2440G>T (p.Gly814Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001994105] |
Chr12:21859651 [GRCh38]
Chr12:22012585 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3956T>G (p.Val1319Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001957272] |
Chr12:21815830 [GRCh38]
Chr12:21968764 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3473+2T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002026783] |
Chr12:21842312 [GRCh38]
Chr12:21995246 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.974T>C (p.Val325Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV001881774] |
Chr12:21912909 [GRCh38]
Chr12:22065843 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1165-20del |
deletion |
Dilated cardiomyopathy 1O [RCV002147428]|not specified [RCV002222758] |
Chr12:21910332 [GRCh38]
Chr12:22063266 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1788C>T (p.Val596=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002185846] |
Chr12:21894046 [GRCh38]
Chr12:22046980 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2401G>A (p.Asp801Asn) |
single nucleotide variant |
not provided [RCV002224434] |
Chr12:21860994 [GRCh38]
Chr12:22013928 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2238-18_2238-17del |
deletion |
Dilated cardiomyopathy 1O [RCV002075863] |
Chr12:21863071..21863072 [GRCh38]
Chr12:22016005..22016006 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4162A>G (p.Arg1388Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003101269]|not provided [RCV002224455] |
Chr12:21812098 [GRCh38]
Chr12:21965032 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1659+12_1659+14dup |
duplication |
Dilated cardiomyopathy 1O [RCV002105793] |
Chr12:21895260..21895261 [GRCh38]
Chr12:22048194..22048195 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-14T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002130442] |
Chr12:21806074 [GRCh38]
Chr12:21959008 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2424+16T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002090918] |
Chr12:21860955 [GRCh38]
Chr12:22013889 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3759G>C (p.Leu1253=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002165362] |
Chr12:21818162 [GRCh38]
Chr12:21971096 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1165-20C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002086365] |
Chr12:21910332 [GRCh38]
Chr12:22063266 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4309G>T (p.Gly1437Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003164315]|not provided [RCV002224472] |
Chr12:21809858 [GRCh38]
Chr12:21962792 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4013C>A (p.Pro1338His) |
single nucleotide variant |
not provided [RCV002224907] |
Chr12:21815773 [GRCh38]
Chr12:21968707 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+666_4512+668del |
microsatellite |
Dilated cardiomyopathy 1O [RCV002127997] |
Chr12:21805330..21805332 [GRCh38]
Chr12:21958264..21958266 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3915T>C (p.His1305=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372857]|Dilated cardiomyopathy 1O [RCV002190351] |
Chr12:21815871 [GRCh38]
Chr12:21968805 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2238-9A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002130778] |
Chr12:21863063 [GRCh38]
Chr12:22015997 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2815C>A (p.Arg939=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002126432] |
Chr12:21848201 [GRCh38]
Chr12:22001135 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.900T>C (p.Ser300=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372843]|Dilated cardiomyopathy 1O [RCV002170017] |
Chr12:21912983 [GRCh38]
Chr12:22065917 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002075933] |
Chr12:21913084 [GRCh38]
Chr12:22066018 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1165-16T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002210166] |
Chr12:21910328 [GRCh38]
Chr12:22063262 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4103-12T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002186868] |
Chr12:21812169 [GRCh38]
Chr12:21965103 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1674T>C (p.His558=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002090608] |
Chr12:21894160 [GRCh38]
Chr12:22047094 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3957C>T (p.Val1319=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002145654] |
Chr12:21815829 [GRCh38]
Chr12:21968763 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3096+1G>T |
single nucleotide variant |
not provided [RCV002224269] |
Chr12:21845602 [GRCh38]
Chr12:21998536 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3990G>A (p.Lys1330=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002186263] |
Chr12:21815796 [GRCh38]
Chr12:21968730 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1011+2T>A |
single nucleotide variant |
not provided [RCV002224575] |
Chr12:21912870 [GRCh38]
Chr12:22065804 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4014del (p.Gly1339fs) |
deletion |
Hypertrichotic osteochondrodysplasia Cantu type [RCV002496156]|not provided [RCV002224397] |
Chr12:21815772 [GRCh38]
Chr12:21968706 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.407-13T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002091006] |
Chr12:21917116 [GRCh38]
Chr12:22070050 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3474-10T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002107881] |
Chr12:21838180 [GRCh38]
Chr12:21991114 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3204T>C (p.Leu1068=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002111929] |
Chr12:21844808 [GRCh38]
Chr12:21997742 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3772-10C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002171592] |
Chr12:21817317 [GRCh38]
Chr12:21970251 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1802+8C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002207818] |
Chr12:21894024 [GRCh38]
Chr12:22046958 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-5T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002212400] |
Chr12:21864482 [GRCh38]
Chr12:22017416 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2487C>T (p.Asn829=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002116604] |
Chr12:21859604 [GRCh38]
Chr12:22012538 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1659+9C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002194057] |
Chr12:21895266 [GRCh38]
Chr12:22048200 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-14T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002171019] |
Chr12:21829074 [GRCh38]
Chr12:21982008 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4392C>G (p.Val1464=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331722]|Dilated cardiomyopathy 1O [RCV002095448] |
Chr12:21807403 [GRCh38]
Chr12:21960337 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3075C>T (p.Asn1025=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002196883] |
Chr12:21845624 [GRCh38]
Chr12:21998558 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4091A>G (p.Asp1364Gly) |
single nucleotide variant |
not provided [RCV002223662] |
Chr12:21814655 [GRCh38]
Chr12:21967589 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.846T>C (p.Thr282=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002078758] |
Chr12:21913037 [GRCh38]
Chr12:22065971 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-20T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002130922] |
Chr12:21913086 [GRCh38]
Chr12:22066020 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1980G>A (p.Arg660=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416500]|Dilated cardiomyopathy 1O [RCV002148513] |
Chr12:21882805 [GRCh38]
Chr12:22035739 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4023+12C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002135008] |
Chr12:21815751 [GRCh38]
Chr12:21968685 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1878T>A (p.Leu626=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002197308] |
Chr12:21887859 [GRCh38]
Chr12:22040793 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.142+17C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002094298] |
Chr12:21936516 [GRCh38]
Chr12:22089450 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2409T>A (p.Thr803=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002170624] |
Chr12:21860986 [GRCh38]
Chr12:22013920 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3566+18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002080626] |
Chr12:21838060 [GRCh38]
Chr12:21990994 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3012G>A (p.Lys1004=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002089414] |
Chr12:21845687 [GRCh38]
Chr12:21998621 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1737T>C (p.His579=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002174739] |
Chr12:21894097 [GRCh38]
Chr12:22047031 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2644-12C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002193158] |
Chr12:21852234 [GRCh38]
Chr12:22005168 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2769+16T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002196520] |
Chr12:21852081 [GRCh38]
Chr12:22005015 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2020-4G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002213971] |
Chr12:21875730 [GRCh38]
Chr12:22028664 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.471G>A (p.Gln157=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002084828] |
Chr12:21917039 [GRCh38]
Chr12:22069973 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.653C>T (p.Pro218Leu) |
single nucleotide variant |
not provided [RCV002223533] |
Chr12:21915831 [GRCh38]
Chr12:22068765 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2093-19C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002108042] |
Chr12:21872749 [GRCh38]
Chr12:22025683 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.804T>C (p.Tyr268=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002133505] |
Chr12:21915680 [GRCh38]
Chr12:22068614 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2340-6C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002093435] |
Chr12:21861061 [GRCh38]
Chr12:22013995 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3606G>C (p.Thr1202=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454390]|Dilated cardiomyopathy 1O [RCV002212228] |
Chr12:21829021 [GRCh38]
Chr12:21981955 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3942A>C (p.Ile1314=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002213599] |
Chr12:21815844 [GRCh38]
Chr12:21968778 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1619-14A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002093692] |
Chr12:21895329 [GRCh38]
Chr12:22048263 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.106T>C (p.Phe36Leu) |
single nucleotide variant |
not provided [RCV002224476] |
Chr12:21936569 [GRCh38]
Chr12:22089503 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.345T>C (p.Thr115=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454329]|Dilated cardiomyopathy 1O [RCV002092341] |
Chr12:21926003 [GRCh38]
Chr12:22078937 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.177C>T (p.His59=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409553]|Dilated cardiomyopathy 1O [RCV002094537] |
Chr12:21933889 [GRCh38]
Chr12:22086823 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.407-12T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002136961] |
Chr12:21917115 [GRCh38]
Chr12:22070049 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4245T>C (p.Asp1415=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002135650] |
Chr12:21809922 [GRCh38]
Chr12:21962856 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2340-9C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002121855] |
Chr12:21861064 [GRCh38]
Chr12:22013998 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1152T>C (p.Arg384=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002102341] |
Chr12:21910838 [GRCh38]
Chr12:22063772 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3201T>C (p.Asn1067=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325633]|Dilated cardiomyopathy 1O [RCV002119920] |
Chr12:21844811 [GRCh38]
Chr12:21997745 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3804C>T (p.Asn1268=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002082082] |
Chr12:21817275 [GRCh38]
Chr12:21970209 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1401G>A (p.Ala467=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391281]|Dilated cardiomyopathy 1O [RCV002160392] |
Chr12:21908131 [GRCh38]
Chr12:22061065 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3097-12G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002098699] |
Chr12:21844927 [GRCh38]
Chr12:21997861 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3480C>T (p.Leu1160=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002199006] |
Chr12:21838164 [GRCh38]
Chr12:21991098 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2625T>C (p.Tyr875=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002202908] |
Chr12:21852386 [GRCh38]
Chr12:22005320 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3566+2212G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002217961] |
Chr12:21835866 [GRCh38]
Chr12:21988800 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2346A>G (p.Lys782=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002156221] |
Chr12:21861049 [GRCh38]
Chr12:22013983 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-17_817-15del |
deletion |
Dilated cardiomyopathy 1O [RCV002179430] |
Chr12:21913081..21913083 [GRCh38]
Chr12:22066015..22066017 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-7C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002198246] |
Chr12:21864484 [GRCh38]
Chr12:22017418 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3336A>G (p.Glu1112=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002216990] |
Chr12:21842451 [GRCh38]
Chr12:21995385 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4315+20T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002218867] |
Chr12:21809832 [GRCh38]
Chr12:21962766 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2238-17dup |
duplication |
Dilated cardiomyopathy 1O [RCV002156904] |
Chr12:21863070..21863071 [GRCh38]
Chr12:22016004..22016005 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.2020-15A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002182361] |
Chr12:21875741 [GRCh38]
Chr12:22028675 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-17G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002144127] |
Chr12:21864494 [GRCh38]
Chr12:22017428 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2198+19G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002162585] |
Chr12:21872606 [GRCh38]
Chr12:22025540 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2769+20A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002218135] |
Chr12:21852077 [GRCh38]
Chr12:22005011 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2093-15G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002101768] |
Chr12:21872745 [GRCh38]
Chr12:22025679 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4209T>C (p.Ile1403=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002155910] |
Chr12:21812051 [GRCh38]
Chr12:21964985 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2198+20G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002182304] |
Chr12:21872605 [GRCh38]
Chr12:22025539 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1038A>G (p.Glu346=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002158087] |
Chr12:21910952 [GRCh38]
Chr12:22063886 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.751T>C (p.Leu251=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002198528] |
Chr12:21915733 [GRCh38]
Chr12:22068667 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2454G>A (p.Gln818=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427708]|Dilated cardiomyopathy 1O [RCV002158503] |
Chr12:21859637 [GRCh38]
Chr12:22012571 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-6dup |
duplication |
Dilated cardiomyopathy 1O [RCV002154761] |
Chr12:21913071..21913072 [GRCh38]
Chr12:22066005..22066006 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893-7C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002162047]|not provided [RCV003326604] |
Chr12:21815900 [GRCh38]
Chr12:21968834 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.3772-7G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002176734] |
Chr12:21817314 [GRCh38]
Chr12:21970248 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1863T>C (p.Thr621=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002182906] |
Chr12:21887874 [GRCh38]
Chr12:22040808 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3771+17A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002184846] |
Chr12:21818133 [GRCh38]
Chr12:21971067 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.354G>A (p.Ser118=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337275]|Dilated cardiomyopathy 1O [RCV002119562] |
Chr12:21925994 [GRCh38]
Chr12:22078928 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4492C>A (p.Arg1498=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002177342] |
Chr12:21806018 [GRCh38]
Chr12:21958952 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4315+19A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002119526] |
Chr12:21809833 [GRCh38]
Chr12:21962767 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893-19_3893-15del |
deletion |
Dilated cardiomyopathy 1O [RCV002183206] |
Chr12:21815908..21815912 [GRCh38]
Chr12:21968842..21968846 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-17_4450-16insA |
insertion |
Dilated cardiomyopathy 1O [RCV002219500] |
Chr12:21806076..21806077 [GRCh38]
Chr12:21959010..21959011 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2867-18A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002143905] |
Chr12:21845850 [GRCh38]
Chr12:21998784 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3963T>C (p.Tyr1321=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002219824] |
Chr12:21815823 [GRCh38]
Chr12:21968757 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2020-17G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002157286] |
Chr12:21875743 [GRCh38]
Chr12:22028677 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2886T>C (p.Asp962=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002441292]|Dilated cardiomyopathy 1O [RCV002204686] |
Chr12:21845813 [GRCh38]
Chr12:21998747 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-20A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002122258] |
Chr12:21864497 [GRCh38]
Chr12:22017431 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4102+9C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002204880] |
Chr12:21814635 [GRCh38]
Chr12:21967569 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-16T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002220065] |
Chr12:21913082 [GRCh38]
Chr12:22066016 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3364C>T (p.Leu1122=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002103144] |
Chr12:21842423 [GRCh38]
Chr12:21995357 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NC_000012.11:g.(?_21918657)_(22017431_?)dup |
duplication |
Brugada syndrome [RCV003113622]|Dilated cardiomyopathy 1O [RCV003113621] |
Chr12:21918657..22017431 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_21971064)_(21971205_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV003116413] |
Chr12:21971064..21971205 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_22059040)_(22063266_?)del |
deletion |
Dilated cardiomyopathy 1O [RCV003116414] |
Chr12:22059040..22063266 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NC_000012.11:g.(?_21958108)_(22089608_?)dup |
duplication |
Dilated cardiomyopathy 1O [RCV003116415] |
Chr12:21958108..22089608 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1912-4G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003111986] |
Chr12:21882877 [GRCh38]
Chr12:22035811 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1218G>A (p.Gly406=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003117193] |
Chr12:21910259 [GRCh38]
Chr12:22063193 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1719T>C (p.Ala573=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003115638] |
Chr12:21894115 [GRCh38]
Chr12:22047049 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3674A>G (p.Tyr1225Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619757]|not specified [RCV002246931] |
Chr12:21818247 [GRCh38]
Chr12:21971181 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4006A>C (p.Ile1336Leu) |
single nucleotide variant |
not provided [RCV003154349] |
Chr12:21815780 [GRCh38]
Chr12:21968714 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4059A>T (p.Ser1353=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003296972]|Dilated cardiomyopathy 1O [RCV003509797] |
Chr12:21814687 [GRCh38]
Chr12:21967621 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1023C>T (p.Thr341=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003296973] |
Chr12:21910967 [GRCh38]
Chr12:22063901 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2496T>C (p.Ile832=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003296974]|Dilated cardiomyopathy 1O [RCV003777157] |
Chr12:21859595 [GRCh38]
Chr12:22012529 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4628C>G (p.Ser1543Cys) |
single nucleotide variant |
not provided [RCV003231939] |
Chr12:21801066 [GRCh38]
Chr12:21954000 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3749T>C (p.Leu1250Ser) |
single nucleotide variant |
not provided [RCV002275386] |
Chr12:21818172 [GRCh38]
Chr12:21971106 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1118A>T (p.Tyr373Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435278] |
Chr12:21910872 [GRCh38]
Chr12:22063806 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2511_2513delinsCCA (p.Pro838Gln) |
indel |
not provided [RCV002293756] |
Chr12:21852498..21852500 [GRCh38]
Chr12:22005432..22005434 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1578A>G (p.Leu526=) |
single nucleotide variant |
not provided [RCV002275979] |
Chr12:21906166 [GRCh38]
Chr12:22059100 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.410T>A (p.Leu137Gln) |
single nucleotide variant |
not provided [RCV002281512] |
Chr12:21917100 [GRCh38]
Chr12:22070034 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.375C>T (p.Ile125=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349347] |
Chr12:21925973 [GRCh38]
Chr12:22078907 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3004C>T (p.Leu1002Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435698]|Dilated cardiomyopathy 1O [RCV003111555] |
Chr12:21845695 [GRCh38]
Chr12:21998629 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 |
copy number loss |
not provided [RCV002292878] |
Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.2116del (p.Gln706fs) |
deletion |
Dilated cardiomyopathy 1O [RCV002288255] |
Chr12:21872707 [GRCh38]
Chr12:22025641 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3490G>A (p.Asp1164Asn) |
single nucleotide variant |
not provided [RCV002267478] |
Chr12:21838154 [GRCh38]
Chr12:21991088 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3931G>C (p.Glu1311Gln) |
single nucleotide variant |
not provided [RCV002292019] |
Chr12:21815855 [GRCh38]
Chr12:21968789 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3414T>C (p.Ala1138=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452181] |
Chr12:21842373 [GRCh38]
Chr12:21995307 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3612A>G (p.Thr1204=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452221] |
Chr12:21829015 [GRCh38]
Chr12:21981949 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1006A>G (p.Thr336Ala) |
single nucleotide variant |
not specified [RCV002282877] |
Chr12:21912877 [GRCh38]
Chr12:22065811 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2854G>A (p.Asp952Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435410]|Dilated cardiomyopathy 1O [RCV003102793] |
Chr12:21848162 [GRCh38]
Chr12:22001096 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2444G>C (p.Gly815Ala) |
single nucleotide variant |
not provided [RCV002293799] |
Chr12:21859647 [GRCh38]
Chr12:22012581 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.3660G>A (p.Glu1220=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452566] |
Chr12:21828967 [GRCh38]
Chr12:21981901 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1266T>A (p.Asn422Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002297186] |
Chr12:21910211 [GRCh38]
Chr12:22063145 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2048G>A (p.Ser683Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420031]|Dilated cardiomyopathy 1O [RCV003774612] |
Chr12:21875698 [GRCh38]
Chr12:22028632 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3364C>G (p.Leu1122Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454780]|Dilated cardiomyopathy 1O [RCV003775601] |
Chr12:21842423 [GRCh38]
Chr12:21995357 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2994T>C (p.Ile998=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435528] |
Chr12:21845705 [GRCh38]
Chr12:21998639 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+738G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002297405] |
Chr12:21805260 [GRCh38]
Chr12:21958194 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.743T>C (p.Ile248Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385069] |
Chr12:21915741 [GRCh38]
Chr12:22068675 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3024T>C (p.Ile1008=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435925] |
Chr12:21845675 [GRCh38]
Chr12:21998609 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.258A>G (p.Glu86=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452882] |
Chr12:21933808 [GRCh38]
Chr12:22086742 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1955T>G (p.Leu652Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421610]|Dilated cardiomyopathy 1O [RCV003619793] |
Chr12:21882830 [GRCh38]
Chr12:22035764 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2898C>G (p.Asn966Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437994] |
Chr12:21845801 [GRCh38]
Chr12:21998735 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2506-1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619762]|Intellectual disability and myopathy syndrome [RCV002283779] |
Chr12:21852506 [GRCh38]
Chr12:22005440 [GRCh37]
Chr12:12p12.1 |
pathogenic|uncertain significance |
| NM_020297.4(ABCC9):c.1188T>C (p.Leu396=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002351283] |
Chr12:21910289 [GRCh38]
Chr12:22063223 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2886T>G (p.Asp962Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437855]|Dilated cardiomyopathy 1O [RCV003102830] |
Chr12:21845813 [GRCh38]
Chr12:21998747 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2033A>T (p.Tyr678Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419814]|Dilated cardiomyopathy 1O [RCV003619795] |
Chr12:21875713 [GRCh38]
Chr12:22028647 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.496C>T (p.Arg166Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002351345]|Dilated cardiomyopathy 1O [RCV003776004] |
Chr12:21917014 [GRCh38]
Chr12:22069948 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.969G>A (p.Gln323=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002387009] |
Chr12:21912914 [GRCh38]
Chr12:22065848 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2739T>C (p.Leu913=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437576] |
Chr12:21852127 [GRCh38]
Chr12:22005061 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe) |
single nucleotide variant |
Hypertrichotic osteochondrodysplasia Cantu type [RCV002466804] |
Chr12:21807420 [GRCh38]
Chr12:21960354 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.4512+693_4512+694del |
microsatellite |
Dilated cardiomyopathy 1O [RCV002858300] |
Chr12:21805304..21805305 [GRCh38]
Chr12:21958238..21958239 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.792G>C (p.Leu264=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416785] |
Chr12:21915692 [GRCh38]
Chr12:22068626 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1938G>A (p.Gln646=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411030] |
Chr12:21882847 [GRCh38]
Chr12:22035781 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2014A>G (p.Ile672Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002417386]|Dilated cardiomyopathy 1O [RCV003097424] |
Chr12:21882771 [GRCh38]
Chr12:22035705 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.454T>G (p.Leu152Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002467473] |
Chr12:21917056 [GRCh38]
Chr12:22069990 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.523A>C (p.Ile175Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002302929] |
Chr12:21916987 [GRCh38]
Chr12:22069921 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4603dup (p.Ala1535fs) |
duplication |
See cases [RCV003128472] |
Chr12:21801090..21801091 [GRCh38]
Chr12:21954024..21954025 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1643T>C (p.Ile548Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002837985] |
Chr12:21895291 [GRCh38]
Chr12:22048225 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.150G>T (p.Gly50=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392179] |
Chr12:21933916 [GRCh38]
Chr12:22086850 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1703C>G (p.Pro568Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002295616] |
Chr12:21894131 [GRCh38]
Chr12:22047065 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4393C>G (p.Arg1465Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002333661] |
Chr12:21807402 [GRCh38]
Chr12:21960336 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1288C>T (p.Leu430=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383234]|Dilated cardiomyopathy 1O [RCV003619788] |
Chr12:21910189 [GRCh38]
Chr12:22063123 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.336C>T (p.Phe112=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451715]|Dilated cardiomyopathy 1O [RCV003099431] |
Chr12:21926012 [GRCh38]
Chr12:22078946 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.58C>T (p.Leu20=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355686]|Dilated cardiomyopathy 1O [RCV003098044] |
Chr12:21936617 [GRCh38]
Chr12:22089551 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1769C>T (p.Thr590Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401778]|Dilated cardiomyopathy 1O [RCV003774490] |
Chr12:21894065 [GRCh38]
Chr12:22046999 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1592C>G (p.Thr531Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398459] |
Chr12:21906152 [GRCh38]
Chr12:22059086 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.872G>C (p.Arg291Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373501] |
Chr12:21913011 [GRCh38]
Chr12:22065945 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.511G>A (p.Gly171Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336055] |
Chr12:21916999 [GRCh38]
Chr12:22069933 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.632T>G (p.Leu211Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354026] |
Chr12:21915852 [GRCh38]
Chr12:22068786 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3039T>C (p.Tyr1013=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443964] |
Chr12:21845660 [GRCh38]
Chr12:21998594 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3470C>G (p.Ser1157Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457286] |
Chr12:21842317 [GRCh38]
Chr12:21995251 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3056_3059delinsT (p.Thr1019_Ser1020delinsMet) |
indel |
Cardiovascular phenotype [RCV002444146] |
Chr12:21845640..21845643 [GRCh38]
Chr12:21998574..21998577 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3769dup (p.Thr1257fs) |
duplication |
Cardiovascular phenotype [RCV002363856] |
Chr12:21818151..21818152 [GRCh38]
Chr12:21971085..21971086 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2493C>T (p.Asn831=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430970] |
Chr12:21859598 [GRCh38]
Chr12:22012532 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1086T>C (p.Leu362=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425878] |
Chr12:21910904 [GRCh38]
Chr12:22063838 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4497C>A (p.Thr1499=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328648] |
Chr12:21806013 [GRCh38]
Chr12:21958947 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1012delA (p.Ile338fs) |
deletion |
Cardiovascular phenotype [RCV002353017] |
Chr12:21910978 [GRCh38]
Chr12:22063912 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1092G>A (p.Leu364=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448201] |
Chr12:21910898 [GRCh38]
Chr12:22063832 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1413C>T (p.Tyr471=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002389557] |
Chr12:21908119 [GRCh38]
Chr12:22061053 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2215C>A (p.Pro739Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425917] |
Chr12:21864461 [GRCh38]
Chr12:22017395 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2505+4A>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002431135]|Dilated cardiomyopathy 1O [RCV003101903] |
Chr12:21859582 [GRCh38]
Chr12:22012516 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1455+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002394678]|Dilated cardiomyopathy 1O [RCV003095188] |
Chr12:21908076 [GRCh38]
Chr12:22061010 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1802G>T (p.Ser601Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410023] |
Chr12:21894032 [GRCh38]
Chr12:22046966 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2139T>C (p.Ser713=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430490] |
Chr12:21872684 [GRCh38]
Chr12:22025618 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+732T>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002340182]|Dilated cardiomyopathy 1O [RCV003094758] |
Chr12:21805266 [GRCh38]
Chr12:21958200 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2238-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002428318] |
Chr12:21863059 [GRCh38]
Chr12:22015993 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2723A>G (p.Glu908Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431310] |
Chr12:21852143 [GRCh38]
Chr12:22005077 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2653A>G (p.Met885Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002428691]|Dilated cardiomyopathy 1O [RCV003509762] |
Chr12:21852213 [GRCh38]
Chr12:22005147 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1023C>G (p.Thr341=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378556]|Dilated cardiomyopathy 1O [RCV003509742] |
Chr12:21910967 [GRCh38]
Chr12:22063901 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1519T>C (p.Leu507=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392382]|Dilated cardiomyopathy 1O [RCV003095281] |
Chr12:21906225 [GRCh38]
Chr12:22059159 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1587C>G (p.Leu529=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398340] |
Chr12:21906157 [GRCh38]
Chr12:22059091 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2451G>A (p.Arg817=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430701]|Dilated cardiomyopathy 1O [RCV003775258] |
Chr12:21859640 [GRCh38]
Chr12:22012574 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4015G>T (p.Gly1339Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359447] |
Chr12:21815771 [GRCh38]
Chr12:21968705 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1044T>A (p.Leu348=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403391] |
Chr12:21910946 [GRCh38]
Chr12:22063880 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2137T>C (p.Ser713Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430464] |
Chr12:21872686 [GRCh38]
Chr12:22025620 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2448G>A (p.Gln816=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455415]|Dilated cardiomyopathy 1O [RCV003111540] |
Chr12:21859643 [GRCh38]
Chr12:22012577 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2915G>C (p.Arg972Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002297920] |
Chr12:21845784 [GRCh38]
Chr12:21998718 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1629T>C (p.Asn543=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401225]|Dilated cardiomyopathy 1O [RCV003097034]|not specified [RCV003317601] |
Chr12:21895305 [GRCh38]
Chr12:22048239 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2363G>A (p.Cys788Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450124] |
Chr12:21861032 [GRCh38]
Chr12:22013966 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4092T>A (p.Asp1364Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323251] |
Chr12:21814654 [GRCh38]
Chr12:21967588 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.704T>C (p.Ile235Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364975]|Dilated cardiomyopathy 1O [RCV003619777] |
Chr12:21915780 [GRCh38]
Chr12:22068714 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1012-2A>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002337567] |
Chr12:21910980 [GRCh38]
Chr12:22063914 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4257G>C (p.Trp1419Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329910] |
Chr12:21809910 [GRCh38]
Chr12:21962844 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2474C>A (p.Ala825Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450631] |
Chr12:21859617 [GRCh38]
Chr12:22012551 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1731C>G (p.Leu577=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399187] |
Chr12:21894103 [GRCh38]
Chr12:22047037 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1915C>T (p.Pro639Ser) |
single nucleotide variant |
not provided [RCV002300775] |
Chr12:21882870 [GRCh38]
Chr12:22035804 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1689A>G (p.Gly563=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406129]|Dilated cardiomyopathy 1O [RCV003108082] |
Chr12:21894145 [GRCh38]
Chr12:22047079 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1878T>C (p.Leu626=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415246]|Dilated cardiomyopathy 1O [RCV003100909] |
Chr12:21887859 [GRCh38]
Chr12:22040793 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2363G>T (p.Cys788Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450125] |
Chr12:21861032 [GRCh38]
Chr12:22013966 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2556G>C (p.Gln852His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433341] |
Chr12:21852455 [GRCh38]
Chr12:22005389 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2661T>C (p.Asp887=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002428749]|Dilated cardiomyopathy 1O [RCV003619801] |
Chr12:21852205 [GRCh38]
Chr12:22005139 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2631G>T (p.Thr877=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002428564]|Dilated cardiomyopathy 1O [RCV003619800] |
Chr12:21852380 [GRCh38]
Chr12:22005314 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1602A>G (p.Leu534=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398710]|Dilated cardiomyopathy 1O [RCV003619791] |
Chr12:21906142 [GRCh38]
Chr12:22059076 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.408C>T (p.Ala136=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323193]|Dilated cardiomyopathy 1O [RCV003094518] |
Chr12:21917102 [GRCh38]
Chr12:22070036 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3328_3332delinsC (p.Thr1110fs) |
indel |
Cardiovascular phenotype [RCV002326443] |
Chr12:21842455..21842459 [GRCh38]
Chr12:21995389..21995393 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4437T>A (p.Ile1479=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328248]|Dilated cardiomyopathy 1O [RCV003094700] |
Chr12:21807358 [GRCh38]
Chr12:21960292 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4357C>T (p.Gln1453Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332304] |
Chr12:21807438 [GRCh38]
Chr12:21960372 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4119T>C (p.Asp1373=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323466]|Dilated cardiomyopathy 1O [RCV003094535] |
Chr12:21812141 [GRCh38]
Chr12:21965075 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1858C>A (p.Arg620=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413132]|Dilated cardiomyopathy 1O [RCV003097302] |
Chr12:21887879 [GRCh38]
Chr12:22040813 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.986A>C (p.Gln329Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002294889] |
Chr12:21912897 [GRCh38]
Chr12:22065831 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.352T>C (p.Ser118Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002459402] |
Chr12:21925996 [GRCh38]
Chr12:22078930 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.367C>T (p.His123Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346689] |
Chr12:21925981 [GRCh38]
Chr12:22078915 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.382T>C (p.Ser128Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364028]|Dilated cardiomyopathy 1O [RCV003094386] |
Chr12:21925966 [GRCh38]
Chr12:22078900 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3129T>C (p.Cys1043=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320559] |
Chr12:21844883 [GRCh38]
Chr12:21997817 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3213C>T (p.Asn1071=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002324617]|Dilated cardiomyopathy 1O [RCV003099303] |
Chr12:21844799 [GRCh38]
Chr12:21997733 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1545C>T (p.Cys515=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403242]|Dilated cardiomyopathy 1O [RCV003095320] |
Chr12:21906199 [GRCh38]
Chr12:22059133 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.-4A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002343031] |
Chr12:21936678 [GRCh38]
Chr12:22089612 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1638T>A (p.Ile546=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403499] |
Chr12:21895296 [GRCh38]
Chr12:22048230 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+743T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002342101] |
Chr12:21805255 [GRCh38]
Chr12:21958189 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA |
indel |
Cardiovascular phenotype [RCV002342398]|Dilated cardiomyopathy 1O [RCV003094784]|not provided [RCV002473369] |
Chr12:21805220..21805221 [GRCh38]
Chr12:21958154..21958155 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3684T>G (p.Ala1228=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346710] |
Chr12:21818237 [GRCh38]
Chr12:21971171 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512T>C (p.Ala1504=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339933]|Dilated cardiomyopathy 1O [RCV003509716] |
Chr12:21805998 [GRCh38]
Chr12:21958932 [GRCh37]
Chr12:12p12.1 |
likely benign|uncertain significance |
| NM_020297.4(ABCC9):c.1320+2T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002861919] |
Chr12:21910155 [GRCh38]
Chr12:22063089 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4316-19G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003095343] |
Chr12:21807498 [GRCh38]
Chr12:21960432 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.407-15T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002861691] |
Chr12:21917118 [GRCh38]
Chr12:22070052 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1164+5G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003013241] |
Chr12:21910821 [GRCh38]
Chr12:22063755 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2032T>C (p.Tyr678His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002838665] |
Chr12:21875714 [GRCh38]
Chr12:22028648 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1619-14_1619-11del |
deletion |
Dilated cardiomyopathy 1O [RCV002837988] |
Chr12:21895326..21895329 [GRCh38]
Chr12:22048260..22048263 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2530A>G (p.Ile844Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003377819]|Dilated cardiomyopathy 1O [RCV002971229] |
Chr12:21852481 [GRCh38]
Chr12:22005415 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.289C>G (p.Arg97Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003014984] |
Chr12:21926059 [GRCh38]
Chr12:22078993 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2238T>G (p.Ser746Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002815331] |
Chr12:21863054 [GRCh38]
Chr12:22015988 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.869A>T (p.Tyr290Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002968046] |
Chr12:21913014 [GRCh38]
Chr12:22065948 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2060C>T (p.Thr687Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003077058] |
Chr12:21875686 [GRCh38]
Chr12:22028620 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2866+3A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003075953] |
Chr12:21848147 [GRCh38]
Chr12:22001081 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1845T>G (p.Gly615=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003013254] |
Chr12:21887892 [GRCh38]
Chr12:22040826 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.758T>C (p.Ile253Thr) |
single nucleotide variant |
not provided [RCV002462497] |
Chr12:21915726 [GRCh38]
Chr12:22068660 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1012-10T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003017681] |
Chr12:21910988 [GRCh38]
Chr12:22063922 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4405A>T (p.Ile1469Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002837987] |
Chr12:21807390 [GRCh38]
Chr12:21960324 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1143T>C (p.Ile381=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003076002] |
Chr12:21910847 [GRCh38]
Chr12:22063781 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1306G>A (p.Ala436Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002842580] |
Chr12:21910171 [GRCh38]
Chr12:22063105 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4037G>T (p.Gly1346Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002819467] |
Chr12:21814709 [GRCh38]
Chr12:21967643 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2898C>T (p.Asn966=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002730584] |
Chr12:21845801 [GRCh38]
Chr12:21998735 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3895C>G (p.Pro1299Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002843485] |
Chr12:21815891 [GRCh38]
Chr12:21968825 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.259dup (p.Ile87fs) |
duplication |
Dilated cardiomyopathy 1O [RCV002995528] |
Chr12:21933806..21933807 [GRCh38]
Chr12:22086740..22086741 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3169G>A (p.Val1057Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002730298] |
Chr12:21844843 [GRCh38]
Chr12:21997777 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2184A>G (p.Lys728=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002750169] |
Chr12:21872639 [GRCh38]
Chr12:22025573 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2058T>G (p.Ala686=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002903815] |
Chr12:21875688 [GRCh38]
Chr12:22028622 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2625T>A (p.Tyr875Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002816021] |
Chr12:21852386 [GRCh38]
Chr12:22005320 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1274T>C (p.Met425Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002730947] |
Chr12:21910203 [GRCh38]
Chr12:22063137 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.732T>C (p.Asp244=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002730198] |
Chr12:21915752 [GRCh38]
Chr12:22068686 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3231C>A (p.Ile1077=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002861260] |
Chr12:21844781 [GRCh38]
Chr12:21997715 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3315+8A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002685875] |
Chr12:21844475 [GRCh38]
Chr12:21997409 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.261A>C (p.Ile87=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003015102] |
Chr12:21933805 [GRCh38]
Chr12:22086739 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+801A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002617590] |
Chr12:21805197 [GRCh38]
Chr12:21958131 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+748T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002843506] |
Chr12:21805250 [GRCh38]
Chr12:21958184 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3892+16T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002997006] |
Chr12:21817171 [GRCh38]
Chr12:21970105 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2913G>C (p.Met971Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003015452] |
Chr12:21845786 [GRCh38]
Chr12:21998720 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3315+10T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002815332] |
Chr12:21844473 [GRCh38]
Chr12:21997407 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.712G>C (p.Ala238Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002842853] |
Chr12:21915772 [GRCh38]
Chr12:22068706 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-16A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002994604] |
Chr12:21848262 [GRCh38]
Chr12:22001196 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.874G>A (p.Ala292Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002971898] |
Chr12:21913009 [GRCh38]
Chr12:22065943 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-4A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002880592] |
Chr12:21817311 [GRCh38]
Chr12:21970245 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1164+6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002881838] |
Chr12:21910820 [GRCh38]
Chr12:22063754 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3473+4A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003079266] |
Chr12:21842310 [GRCh38]
Chr12:21995244 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2867-20C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002640628] |
Chr12:21845852 [GRCh38]
Chr12:21998786 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.729del (p.Ile243fs) |
deletion |
Dilated cardiomyopathy 1O [RCV002870826] |
Chr12:21915755 [GRCh38]
Chr12:22068689 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2062T>C (p.Leu688=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003080480] |
Chr12:21875684 [GRCh38]
Chr12:22028618 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3315+7A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003018364] |
Chr12:21844476 [GRCh38]
Chr12:21997410 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+769A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002740271] |
Chr12:21805229 [GRCh38]
Chr12:21958163 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1892G>A (p.Cys631Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002663159] |
Chr12:21887845 [GRCh38]
Chr12:22040779 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2816G>A (p.Arg939Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003055707] |
Chr12:21848200 [GRCh38]
Chr12:22001134 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2432A>G (p.Asn811Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002820217] |
Chr12:21859659 [GRCh38]
Chr12:22012593 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.576A>G (p.Arg192=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002871426] |
Chr12:21915908 [GRCh38]
Chr12:22068842 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.512G>C (p.Gly171Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002910002] |
Chr12:21916998 [GRCh38]
Chr12:22069932 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4449+7G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002866651] |
Chr12:21807339 [GRCh38]
Chr12:21960273 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3669+5G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002886067] |
Chr12:21828953 [GRCh38]
Chr12:21981887 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+668_4512+672del |
deletion |
Dilated cardiomyopathy 1O [RCV003077791] |
Chr12:21805326..21805330 [GRCh38]
Chr12:21958260..21958264 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1069C>T (p.Leu357Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002923639] |
Chr12:21910921 [GRCh38]
Chr12:22063855 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2791A>G (p.Thr931Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003020311] |
Chr12:21848225 [GRCh38]
Chr12:22001159 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3246-12T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003078661] |
Chr12:21844564 [GRCh38]
Chr12:21997498 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1864G>C (p.Gly622Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003019880] |
Chr12:21887873 [GRCh38]
Chr12:22040807 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2238-19_2238-17del |
deletion |
Dilated cardiomyopathy 1O [RCV003019883] |
Chr12:21863071..21863073 [GRCh38]
Chr12:22016005..22016007 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2715G>C (p.Glu905Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002820208] |
Chr12:21852151 [GRCh38]
Chr12:22005085 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.406+4A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619810]|Intellectual disability and myopathy syndrome [RCV002795927] |
Chr12:21925938 [GRCh38]
Chr12:22078872 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3693C>T (p.Val1231=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003080095] |
Chr12:21818228 [GRCh38]
Chr12:21971162 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+672T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002797081] |
Chr12:21805326 [GRCh38]
Chr12:21958260 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1219del (p.Glu407fs) |
deletion |
Dilated cardiomyopathy 1O [RCV003080400] |
Chr12:21910258 [GRCh38]
Chr12:22063192 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.88A>G (p.Asn30Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003078248] |
Chr12:21936587 [GRCh38]
Chr12:22089521 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1859G>T (p.Arg620Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002637629] |
Chr12:21887878 [GRCh38]
Chr12:22040812 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+824G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002927306] |
Chr12:21805174 [GRCh38]
Chr12:21958108 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.142+13G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002867039] |
Chr12:21936520 [GRCh38]
Chr12:22089454 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+720G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003054838] |
Chr12:21805278 [GRCh38]
Chr12:21958212 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3893-12C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002909462] |
Chr12:21815905 [GRCh38]
Chr12:21968839 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3388_3389insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAAATCAATTCAAGATGGGATGATTTCTT (p.Tyr1130delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLysLeuAlaSerHisMetTer) |
insertion |
Dilated cardiomyopathy 1O [RCV003036299] |
Chr12:21842398..21842399 [GRCh38]
Chr12:21995332..21995333 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2592G>A (p.Arg864=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003078667] |
Chr12:21852419 [GRCh38]
Chr12:22005353 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2505+11G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003053303] |
Chr12:21859575 [GRCh38]
Chr12:22012509 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.284+10C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002637344] |
Chr12:21933772 [GRCh38]
Chr12:22086706 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3316-19T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002760235] |
Chr12:21842490 [GRCh38]
Chr12:21995424 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1701A>G (p.Lys567=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002913592] |
Chr12:21894133 [GRCh38]
Chr12:22047067 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2643+12G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002848304] |
Chr12:21852356 [GRCh38]
Chr12:22005290 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-18T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002705917] |
Chr12:21818269 [GRCh38]
Chr12:21971203 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3434C>T (p.Ala1145Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002824252] |
Chr12:21842353 [GRCh38]
Chr12:21995287 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3729G>C (p.Ser1243=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002590626] |
Chr12:21818192 [GRCh38]
Chr12:21971126 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2140C>A (p.Leu714Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002668039] |
Chr12:21872683 [GRCh38]
Chr12:22025617 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3402G>A (p.Val1134=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002745764] |
Chr12:21842385 [GRCh38]
Chr12:21995319 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4147C>T (p.His1383Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003085859] |
Chr12:21812113 [GRCh38]
Chr12:21965047 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1912-6A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002627180] |
Chr12:21882879 [GRCh38]
Chr12:22035813 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+673A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002576023] |
Chr12:21805325 [GRCh38]
Chr12:21958259 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+818C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002642352] |
Chr12:21805180 [GRCh38]
Chr12:21958114 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.25A>C (p.Asn9His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002644462] |
Chr12:21936650 [GRCh38]
Chr12:22089584 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.977A>G (p.Asn326Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003005577] |
Chr12:21912906 [GRCh38]
Chr12:22065840 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.565C>T (p.Arg189Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002957229] |
Chr12:21916945 [GRCh38]
Chr12:22069879 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-7dup |
duplication |
Dilated cardiomyopathy 1O [RCV003082470] |
Chr12:21829066..21829067 [GRCh38]
Chr12:21982000..21982001 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.1012-18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002985447] |
Chr12:21910996 [GRCh38]
Chr12:22063930 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2986C>T (p.Leu996=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002917676] |
Chr12:21845713 [GRCh38]
Chr12:21998647 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4464A>G (p.Gln1488=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002766321] |
Chr12:21806046 [GRCh38]
Chr12:21958980 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1320+17A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003022691] |
Chr12:21910140 [GRCh38]
Chr12:22063074 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4341G>A (p.Glu1447=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003057199] |
Chr12:21807454 [GRCh38]
Chr12:21960388 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2025A>G (p.Thr675=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003057747] |
Chr12:21875721 [GRCh38]
Chr12:22028655 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2340-9C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003039899] |
Chr12:21861064 [GRCh38]
Chr12:22013998 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+667T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002711502] |
Chr12:21805331 [GRCh38]
Chr12:21958265 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3565A>G (p.Arg1189Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002711819] |
Chr12:21838079 [GRCh38]
Chr12:21991013 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2643+5G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002643793] |
Chr12:21852363 [GRCh38]
Chr12:22005297 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2802G>A (p.Arg934=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002876533] |
Chr12:21848214 [GRCh38]
Chr12:22001148 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-10T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002575896] |
Chr12:21806070 [GRCh38]
Chr12:21959004 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4315+17G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002701453] |
Chr12:21809835 [GRCh38]
Chr12:21962769 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4023+13T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002932936] |
Chr12:21815750 [GRCh38]
Chr12:21968684 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893-18C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002871737] |
Chr12:21815911 [GRCh38]
Chr12:21968845 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2121A>G (p.Val707=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002928323] |
Chr12:21872702 [GRCh38]
Chr12:22025636 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3670-20T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002572827] |
Chr12:21818271 [GRCh38]
Chr12:21971205 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1137T>A (p.Thr379=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002851745] |
Chr12:21910853 [GRCh38]
Chr12:22063787 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1911+13T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002830158] |
Chr12:21887813 [GRCh38]
Chr12:22040747 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1199C>T (p.Thr400Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003042587] |
Chr12:21910278 [GRCh38]
Chr12:22063212 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.284+13A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003007252] |
Chr12:21933769 [GRCh38]
Chr12:22086703 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.284C>T (p.Ser95Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002790720] |
Chr12:21933782 [GRCh38]
Chr12:22086716 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4254C>G (p.Leu1418=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003059042] |
Chr12:21809913 [GRCh38]
Chr12:21962847 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2339+16T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002596123] |
Chr12:21862937 [GRCh38]
Chr12:22015871 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2990T>C (p.Met997Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003005503] |
Chr12:21845709 [GRCh38]
Chr12:21998643 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1166C>T (p.Ala389Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003059093] |
Chr12:21910311 [GRCh38]
Chr12:22063245 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1697T>C (p.Leu566Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002767894] |
Chr12:21894137 [GRCh38]
Chr12:22047071 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2589_2590del (p.Arg864fs) |
deletion |
Dilated cardiomyopathy 1O [RCV002852468] |
Chr12:21852421..21852422 [GRCh38]
Chr12:22005355..22005356 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2375C>T (p.Pro792Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003377913]|Dilated cardiomyopathy 1O [RCV002624871] |
Chr12:21861020 [GRCh38]
Chr12:22013954 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.409C>T (p.Leu137=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003086730] |
Chr12:21917101 [GRCh38]
Chr12:22070035 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4512+708G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002580148] |
Chr12:21805290 [GRCh38]
Chr12:21958224 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2230A>G (p.Thr744Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002650000] |
Chr12:21864446 [GRCh38]
Chr12:22017380 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2828C>G (p.Ser943Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002833758] |
Chr12:21848188 [GRCh38]
Chr12:22001122 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1923T>C (p.Thr641=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002650998] |
Chr12:21882862 [GRCh38]
Chr12:22035796 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3246-7T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003090992] |
Chr12:21844559 [GRCh38]
Chr12:21997493 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2339+8_2339+9insACAGAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC |
microsatellite |
Dilated cardiomyopathy 1O [RCV002856666] |
Chr12:21862944..21862945 [GRCh38]
Chr12:22015878..22015879 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2425-15G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003065054] |
Chr12:21859681 [GRCh38]
Chr12:22012615 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.232G>A (p.Ala78Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161876]|Dilated cardiomyopathy 1O [RCV002602519] |
Chr12:21933834 [GRCh38]
Chr12:22086768 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3670-16T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003090235] |
Chr12:21818267 [GRCh38]
Chr12:21971201 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3557G>C (p.Arg1186Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003047638] |
Chr12:21838087 [GRCh38]
Chr12:21991021 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2237+3A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003090256] |
Chr12:21864436 [GRCh38]
Chr12:22017370 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3860C>T (p.Thr1287Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003045216] |
Chr12:21817219 [GRCh38]
Chr12:21970153 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3474-11C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003065467] |
Chr12:21838181 [GRCh38]
Chr12:21991115 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3270A>T (p.Gly1090=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003065322] |
Chr12:21844528 [GRCh38]
Chr12:21997462 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2092+7G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002811988] |
Chr12:21875647 [GRCh38]
Chr12:22028581 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3622G>A (p.Ala1208Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002895305] |
Chr12:21829005 [GRCh38]
Chr12:21981939 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3590G>T (p.Arg1197Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003060551] |
Chr12:21829037 [GRCh38]
Chr12:21981971 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3820G>A (p.Val1274Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002597716] |
Chr12:21817259 [GRCh38]
Chr12:21970193 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2020-19C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002649597] |
Chr12:21875745 [GRCh38]
Chr12:22028679 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1320+10T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002933598] |
Chr12:21910147 [GRCh38]
Chr12:22063081 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2224G>C (p.Glu742Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003087180] |
Chr12:21864452 [GRCh38]
Chr12:22017386 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+738G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002628767] |
Chr12:21805260 [GRCh38]
Chr12:21958194 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3473+18C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003046478] |
Chr12:21842296 [GRCh38]
Chr12:21995230 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1802+17C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002963178] |
Chr12:21894015 [GRCh38]
Chr12:22046949 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567G>A (p.Arg1189=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003044577] |
Chr12:21829060 [GRCh38]
Chr12:21981994 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.290G>A (p.Arg97Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002720324] |
Chr12:21926058 [GRCh38]
Chr12:22078992 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2872G>A (p.Glu958Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002671028] |
Chr12:21845827 [GRCh38]
Chr12:21998761 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.849A>G (p.Pro283=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002811992] |
Chr12:21913034 [GRCh38]
Chr12:22065968 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.995C>A (p.Thr332Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002703023] |
Chr12:21912888 [GRCh38]
Chr12:22065822 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3586C>T (p.Gln1196Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002857794] |
Chr12:21829041 [GRCh38]
Chr12:21981975 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.573+13T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003090884] |
Chr12:21916924 [GRCh38]
Chr12:22069858 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2770-20T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003090302] |
Chr12:21848266 [GRCh38]
Chr12:22001200 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-19T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002922631] |
Chr12:21864496 [GRCh38]
Chr12:22017430 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3770C>T (p.Thr1257Met) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002720499] |
Chr12:21818151 [GRCh38]
Chr12:21971085 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3567-19G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002647710] |
Chr12:21829079 [GRCh38]
Chr12:21982013 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4449+18G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002581940] |
Chr12:21807328 [GRCh38]
Chr12:21960262 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3257C>A (p.Thr1086Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002770444] |
Chr12:21844541 [GRCh38]
Chr12:21997475 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4450-17_4450-16del |
deletion |
Dilated cardiomyopathy 1O [RCV003087249] |
Chr12:21806076..21806077 [GRCh38]
Chr12:21959010..21959011 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3567-9T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002671438] |
Chr12:21829069 [GRCh38]
Chr12:21982003 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.870C>T (p.Tyr290=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002959169] |
Chr12:21913013 [GRCh38]
Chr12:22065947 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1555G>A (p.Glu519Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002895223] |
Chr12:21906189 [GRCh38]
Chr12:22059123 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4408C>T (p.Leu1470Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003063754] |
Chr12:21807387 [GRCh38]
Chr12:21960321 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3895C>T (p.Pro1299Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002634050] |
Chr12:21815891 [GRCh38]
Chr12:21968825 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3153T>C (p.Leu1051=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003050081] |
Chr12:21844859 [GRCh38]
Chr12:21997793 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1455+19A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003092878] |
Chr12:21908058 [GRCh38]
Chr12:22060992 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-19C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003066535] |
Chr12:21806079 [GRCh38]
Chr12:21959013 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+4A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002634279] |
Chr12:21915664 [GRCh38]
Chr12:22068598 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3096+18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002584937] |
Chr12:21845585 [GRCh38]
Chr12:21998519 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199T>C (p.Asn733=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003069394] |
Chr12:21864477 [GRCh38]
Chr12:22017411 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2028T>C (p.Asn676=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003050745] |
Chr12:21875718 [GRCh38]
Chr12:22028652 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+12T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002586608] |
Chr12:21915656 [GRCh38]
Chr12:22068590 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2315T>C (p.Phe772Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003070251] |
Chr12:21862977 [GRCh38]
Chr12:22015911 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3246-5C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002585857] |
Chr12:21844557 [GRCh38]
Chr12:21997491 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-8T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002814415] |
Chr12:21806068 [GRCh38]
Chr12:21959002 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2666G>A (p.Ser889Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002657765] |
Chr12:21852200 [GRCh38]
Chr12:22005134 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.286C>T (p.Arg96Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003072989] |
Chr12:21926062 [GRCh38]
Chr12:22078996 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2339+20A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003068703] |
Chr12:21862933 [GRCh38]
Chr12:22015867 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2199-18T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002605950] |
Chr12:21864495 [GRCh38]
Chr12:22017429 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+684C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002607799] |
Chr12:21805314 [GRCh38]
Chr12:21958248 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.820A>G (p.Lys274Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002605996] |
Chr12:21913063 [GRCh38]
Chr12:22065997 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+17G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002582299] |
Chr12:21805981 [GRCh38]
Chr12:21958915 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2505+19C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003051377] |
Chr12:21859567 [GRCh38]
Chr12:22012501 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3096+6A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002588299] |
Chr12:21845597 [GRCh38]
Chr12:21998531 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.531T>A (p.Asn177Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002633486] |
Chr12:21916979 [GRCh38]
Chr12:22069913 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3316-3T>C |
single nucleotide variant |
Cardiomyopathy [RCV003150749] |
Chr12:21842474 [GRCh38]
Chr12:21995408 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3157A>C (p.Thr1053Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003050035] |
Chr12:21844855 [GRCh38]
Chr12:21997789 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2271A>G (p.Gln757=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002654570] |
Chr12:21863021 [GRCh38]
Chr12:22015955 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1619-12T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003067117] |
Chr12:21895327 [GRCh38]
Chr12:22048261 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4044T>A (p.Thr1348=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003049579] |
Chr12:21814702 [GRCh38]
Chr12:21967636 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.198T>G (p.Phe66Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV002633358] |
Chr12:21933868 [GRCh38]
Chr12:22086802 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.143-1G>C |
single nucleotide variant |
not specified [RCV003155811] |
Chr12:21933924 [GRCh38]
Chr12:22086858 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 |
copy number gain |
Pallister-Killian syndrome [RCV003154827] |
Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.51T>C (p.Asp17=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003216434] |
Chr12:21936624 [GRCh38]
Chr12:22089558 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2244C>T (p.Asn748=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168121] |
Chr12:21863048 [GRCh38]
Chr12:22015982 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1110G>A (p.Gln370=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168122] |
Chr12:21910880 [GRCh38]
Chr12:22063814 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2499C>G (p.Val833=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003176731] |
Chr12:21859592 [GRCh38]
Chr12:22012526 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.142+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV003176733] |
Chr12:21936531 [GRCh38]
Chr12:22089465 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1854T>C (p.Ser618=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003176734] |
Chr12:21887883 [GRCh38]
Chr12:22040817 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3893A>T (p.Asp1298Val) |
single nucleotide variant |
not provided [RCV003139496] |
Chr12:21815893 [GRCh38]
Chr12:21968827 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.828A>G (p.Ala276=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168123] |
Chr12:21913055 [GRCh38]
Chr12:22065989 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1317T>G (p.Val439=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168124]|Dilated cardiomyopathy 1O [RCV003778964] |
Chr12:21910160 [GRCh38]
Chr12:22063094 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.990T>A (p.Asn330Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168125] |
Chr12:21912893 [GRCh38]
Chr12:22065827 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.146G>A (p.Trp49Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168126] |
Chr12:21933920 [GRCh38]
Chr12:22086854 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3838_3841delinsGTTTCCTGCACCAGATGGGTGC (p.Lys1280_Lys1281delinsValSerCysThrArgTrpValGln) |
indel |
not provided [RCV003225563] |
Chr12:21817238..21817241 [GRCh38]
Chr12:21970172..21970175 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1390G>T (p.Val464Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380033] |
Chr12:21908142 [GRCh38]
Chr12:22061076 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4112T>G (p.Val1371Gly) |
single nucleotide variant |
not specified [RCV003331623] |
Chr12:21812148 [GRCh38]
Chr12:21965082 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+733C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003380030]|Dilated cardiomyopathy 1O [RCV003509816] |
Chr12:21805265 [GRCh38]
Chr12:21958199 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4317T>G (p.Asp1439Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380031]|Dilated cardiomyopathy 1O [RCV003778128] |
Chr12:21807478 [GRCh38]
Chr12:21960412 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.146G>T (p.Trp49Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380032] |
Chr12:21933920 [GRCh38]
Chr12:22086854 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2946C>G (p.Cys982Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380034] |
Chr12:21845753 [GRCh38]
Chr12:21998687 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1213A>G (p.Met405Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380035] |
Chr12:21910264 [GRCh38]
Chr12:22063198 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2598C>T (p.Leu866=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003379794] |
Chr12:21852413 [GRCh38]
Chr12:22005347 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1963T>A (p.Tyr655Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003379804] |
Chr12:21882822 [GRCh38]
Chr12:22035756 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+746_4512+747del |
deletion |
not provided [RCV003396270] |
Chr12:21805251..21805252 [GRCh38]
Chr12:21958185..21958186 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3031A>G (p.Ile1011Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003355177] |
Chr12:21845668 [GRCh38]
Chr12:21998602 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.566G>A (p.Arg189Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511216] |
Chr12:21916944 [GRCh38]
Chr12:22069878 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.144G>A (p.Gly48=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511243] |
Chr12:21933922 [GRCh38]
Chr12:22086856 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.411G>C (p.Leu137=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003873980] |
Chr12:21917099 [GRCh38]
Chr12:22070033 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1141A>G (p.Ile381Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003874196] |
Chr12:21910849 [GRCh38]
Chr12:22063783 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1659+19C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003874747] |
Chr12:21895256 [GRCh38]
Chr12:22048190 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3892+7C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003875472] |
Chr12:21817180 [GRCh38]
Chr12:21970114 [GRCh37]
Chr12:12p12.1 |
likely benign |
| Single allele |
duplication |
not provided [RCV003448692] |
Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p12.1(chr12:21764770-22085125)x3 |
copy number gain |
not provided [RCV003484865] |
Chr12:21764770..22085125 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1012-13C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511374] |
Chr12:21910991 [GRCh38]
Chr12:22063925 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2966G>A (p.Gly989Glu) |
single nucleotide variant |
ABCC9-related condition [RCV003391620] |
Chr12:21845733 [GRCh38]
Chr12:21998667 [GRCh37]
Chr12:12p12.1 |
likely pathogenic |
| NM_020297.4(ABCC9):c.4512+743_4512+744insAAA |
insertion |
Dilated cardiomyopathy 1O [RCV003509823]|not provided [RCV003396272] |
Chr12:21805254..21805255 [GRCh38]
Chr12:21958188..21958189 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2231C>A (p.Thr744Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003778383]|not provided [RCV003390191] |
Chr12:21864445 [GRCh38]
Chr12:22017379 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+745T>G |
single nucleotide variant |
not provided [RCV003396271] |
Chr12:21805253 [GRCh38]
Chr12:21958187 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1257T>C (p.Ile419=) |
single nucleotide variant |
not provided [RCV003396274] |
Chr12:21910220 [GRCh38]
Chr12:22063154 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.907T>C (p.Phe303Leu) |
single nucleotide variant |
not specified [RCV003388444] |
Chr12:21912976 [GRCh38]
Chr12:22065910 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.525_563del (p.Leu176_Ile188del) |
deletion |
ABCC9-related condition [RCV003414297] |
Chr12:21916947..21916985 [GRCh38]
Chr12:22069881..22069919 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2291C>T (p.Ala764Val) |
single nucleotide variant |
not provided [RCV003396273] |
Chr12:21863001 [GRCh38]
Chr12:22015935 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1803-8T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510066] |
Chr12:21887942 [GRCh38]
Chr12:22040876 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1164+20A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003848905] |
Chr12:21910806 [GRCh38]
Chr12:22063740 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4376T>G (p.Leu1459Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510369] |
Chr12:21807419 [GRCh38]
Chr12:21960353 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2107A>T (p.Ile703Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511202] |
Chr12:21872716 [GRCh38]
Chr12:22025650 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2151C>T (p.Ala717=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510500] |
Chr12:21872672 [GRCh38]
Chr12:22025606 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2553G>A (p.Met851Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510536] |
Chr12:21852458 [GRCh38]
Chr12:22005392 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.248A>G (p.His83Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511442] |
Chr12:21933818 [GRCh38]
Chr12:22086752 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1150C>T (p.Arg384Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510590] |
Chr12:21910840 [GRCh38]
Chr12:22063774 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2339+14T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509221] |
Chr12:21862939 [GRCh38]
Chr12:22015873 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1662A>G (p.Thr554=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509298] |
Chr12:21894172 [GRCh38]
Chr12:22047106 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1945A>G (p.Arg649Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509870] |
Chr12:21882840 [GRCh38]
Chr12:22035774 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+671C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509950] |
Chr12:21805327 [GRCh38]
Chr12:21958261 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.816+14T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510579] |
Chr12:21915654 [GRCh38]
Chr12:22068588 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.537C>A (p.Leu179=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511152] |
Chr12:21916973 [GRCh38]
Chr12:22069907 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2505+18C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509966] |
Chr12:21859568 [GRCh38]
Chr12:22012502 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2512C>T (p.Pro838Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510598] |
Chr12:21852499 [GRCh38]
Chr12:22005433 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2255T>C (p.Val752Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510027] |
Chr12:21863037 [GRCh38]
Chr12:22015971 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3316-7C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510028] |
Chr12:21842478 [GRCh38]
Chr12:21995412 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1012-4C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511212] |
Chr12:21910982 [GRCh38]
Chr12:22063916 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.817-17_817-14del |
deletion |
Dilated cardiomyopathy 1O [RCV003511262] |
Chr12:21913080..21913083 [GRCh38]
Chr12:22066014..22066017 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.819A>G (p.Lys273=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510197] |
Chr12:21913064 [GRCh38]
Chr12:22065998 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3670-15C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511459] |
Chr12:21818266 [GRCh38]
Chr12:21971200 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3494A>G (p.Asp1165Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509377] |
Chr12:21838150 [GRCh38]
Chr12:21991084 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3648C>G (p.Asn1216Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510304] |
Chr12:21828979 [GRCh38]
Chr12:21981913 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4316-15C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510405] |
Chr12:21807494 [GRCh38]
Chr12:21960428 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.866T>C (p.Met289Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511106] |
Chr12:21913017 [GRCh38]
Chr12:22065951 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3993C>A (p.His1331Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510308] |
Chr12:21815793 [GRCh38]
Chr12:21968727 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3091G>T (p.Asp1031Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510309] |
Chr12:21845608 [GRCh38]
Chr12:21998542 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1251C>A (p.Val417=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510379] |
Chr12:21910226 [GRCh38]
Chr12:22063160 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1577T>C (p.Leu526Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510416] |
Chr12:21906167 [GRCh38]
Chr12:22059101 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3539_3541del (p.Glu1180del) |
deletion |
Dilated cardiomyopathy 1O [RCV003511066] |
Chr12:21838103..21838105 [GRCh38]
Chr12:21991037..21991039 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3347G>C (p.Arg1116Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509850] |
Chr12:21842440 [GRCh38]
Chr12:21995374 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.406+3A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511358] |
Chr12:21925939 [GRCh38]
Chr12:22078873 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3542G>A (p.Gly1181Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510624] |
Chr12:21838102 [GRCh38]
Chr12:21991036 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1908A>G (p.Gly636=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509167] |
Chr12:21887829 [GRCh38]
Chr12:22040763 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+8T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509174] |
Chr12:21805990 [GRCh38]
Chr12:21958924 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3023T>C (p.Ile1008Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510662] |
Chr12:21845676 [GRCh38]
Chr12:21998610 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3168T>C (p.Thr1056=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509219] |
Chr12:21844844 [GRCh38]
Chr12:21997778 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3315+13G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509242] |
Chr12:21844470 [GRCh38]
Chr12:21997404 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.709T>C (p.Ser237Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510153] |
Chr12:21915775 [GRCh38]
Chr12:22068709 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.492C>T (p.Asn164=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509289] |
Chr12:21917018 [GRCh38]
Chr12:22069952 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2769+19G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003875973] |
Chr12:21852078 [GRCh38]
Chr12:22005012 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.746G>A (p.Gly249Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510203] |
Chr12:21915738 [GRCh38]
Chr12:22068672 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3175T>C (p.Trp1059Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510850] |
Chr12:21844837 [GRCh38]
Chr12:21997771 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2950C>G (p.Arg984Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509466] |
Chr12:21845749 [GRCh38]
Chr12:21998683 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1318C>G (p.Gln440Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510076] |
Chr12:21910159 [GRCh38]
Chr12:22063093 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4223A>G (p.Asp1408Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510679] |
Chr12:21809944 [GRCh38]
Chr12:21962878 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2019+8T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003880948] |
Chr12:21882758 [GRCh38]
Chr12:22035692 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.573G>A (p.Arg191=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003876111] |
Chr12:21916937 [GRCh38]
Chr12:22069871 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.327G>T (p.Val109=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510808] |
Chr12:21926021 [GRCh38]
Chr12:22078955 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.841C>T (p.Arg281Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510820] |
Chr12:21913042 [GRCh38]
Chr12:22065976 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4212-15A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510821] |
Chr12:21809970 [GRCh38]
Chr12:21962904 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.238C>T (p.Leu80=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511255] |
Chr12:21933828 [GRCh38]
Chr12:22086762 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4449+18G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509231] |
Chr12:21807328 [GRCh38]
Chr12:21960262 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2005G>A (p.Asp669Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510865] |
Chr12:21882780 [GRCh38]
Chr12:22035714 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.142+13G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003876655] |
Chr12:21936520 [GRCh38]
Chr12:22089454 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4316-11C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509361] |
Chr12:21807490 [GRCh38]
Chr12:21960424 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2424+16T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510509] |
Chr12:21860955 [GRCh38]
Chr12:22013889 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1190G>C (p.Arg397Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510510] |
Chr12:21910287 [GRCh38]
Chr12:22063221 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3868T>C (p.Ser1290Pro) |
single nucleotide variant |
not specified [RCV003489667] |
Chr12:21817211 [GRCh38]
Chr12:21970145 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2020-24_2020-20del |
microsatellite |
Dilated cardiomyopathy 1O [RCV003509408] |
Chr12:21875746..21875750 [GRCh38]
Chr12:22028680..22028684 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.406+16T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509328] |
Chr12:21925926 [GRCh38]
Chr12:22078860 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2832A>G (p.Arg944=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509178] |
Chr12:21848184 [GRCh38]
Chr12:22001118 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2170A>T (p.Thr724Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511418] |
Chr12:21872653 [GRCh38]
Chr12:22025587 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1463C>G (p.Ser488Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509473] |
Chr12:21906281 [GRCh38]
Chr12:22059215 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3741G>C (p.Leu1247Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509302] |
Chr12:21818180 [GRCh38]
Chr12:21971114 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2161G>A (p.Glu721Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510386] |
Chr12:21872662 [GRCh38]
Chr12:22025596 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-6del |
deletion |
Dilated cardiomyopathy 1O [RCV003510623] |
Chr12:21848252 [GRCh38]
Chr12:22001186 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.285-15_285-14dup |
duplication |
Dilated cardiomyopathy 1O [RCV003511033] |
Chr12:21926076..21926077 [GRCh38]
Chr12:22079010..22079011 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4389del (p.Phe1463fs) |
deletion |
Dilated cardiomyopathy 1O [RCV003509841] |
Chr12:21807406 [GRCh38]
Chr12:21960340 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510638] |
Chr12:21936672 [GRCh38]
Chr12:22089606 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3415C>G (p.Leu1139Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003875930] |
Chr12:21842372 [GRCh38]
Chr12:21995306 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1928A>G (p.Asn643Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509925] |
Chr12:21882857 [GRCh38]
Chr12:22035791 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2642G>T (p.Trp881Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510703] |
Chr12:21852369 [GRCh38]
Chr12:22005303 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+17C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509936] |
Chr12:21852080 [GRCh38]
Chr12:22005014 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1943G>A (p.Gly648Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509961] |
Chr12:21882842 [GRCh38]
Chr12:22035776 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.91C>G (p.Leu31Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003511141] |
Chr12:21936584 [GRCh38]
Chr12:22089518 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3430G>A (p.Val1144Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003509988] |
Chr12:21842357 [GRCh38]
Chr12:21995291 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+15T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510077] |
Chr12:21852082 [GRCh38]
Chr12:22005016 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1928A>T (p.Asn643Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510009] |
Chr12:21882857 [GRCh38]
Chr12:22035791 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2092+19G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510151] |
Chr12:21875635 [GRCh38]
Chr12:22028569 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2841A>G (p.Lys947=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003510023] |
Chr12:21848175 [GRCh38]
Chr12:22001109 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2130G>A (p.Gly710=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619313] |
Chr12:21872693 [GRCh38]
Chr12:22025627 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3773T>A (p.Ile1258Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003855554] |
Chr12:21817306 [GRCh38]
Chr12:21970240 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4024-3T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620783] |
Chr12:21814725 [GRCh38]
Chr12:21967659 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2424+20A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619485] |
Chr12:21860951 [GRCh38]
Chr12:22013885 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3246G>T (p.Arg1082Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619511] |
Chr12:21844552 [GRCh38]
Chr12:21997486 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1142T>C (p.Ile381Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619952] |
Chr12:21910848 [GRCh38]
Chr12:22063782 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2900T>C (p.Met967Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619573] |
Chr12:21845799 [GRCh38]
Chr12:21998733 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1619-9_1619-6del |
microsatellite |
Dilated cardiomyopathy 1O [RCV003620806] |
Chr12:21895321..21895324 [GRCh38]
Chr12:22048255..22048258 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+815C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620654] |
Chr12:21805183 [GRCh38]
Chr12:21958117 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1802+7A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620014] |
Chr12:21894025 [GRCh38]
Chr12:22046959 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2866+7C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003832604] |
Chr12:21848143 [GRCh38]
Chr12:22001077 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4262_4267del (p.Ala1421_Leu1422del) |
deletion |
Dilated cardiomyopathy 1O [RCV003620680] |
Chr12:21809900..21809905 [GRCh38]
Chr12:21962834..21962839 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1165G>T (p.Ala389Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620851] |
Chr12:21910312 [GRCh38]
Chr12:22063246 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-15C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620059] |
Chr12:21848261 [GRCh38]
Chr12:22001195 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2456G>T (p.Arg819Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620070] |
Chr12:21859635 [GRCh38]
Chr12:22012569 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1802+1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620702] |
Chr12:21894031 [GRCh38]
Chr12:22046965 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.594T>A (p.Asn198Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619202] |
Chr12:21915890 [GRCh38]
Chr12:22068824 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.495G>A (p.Leu165=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619544] |
Chr12:21917015 [GRCh38]
Chr12:22069949 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3210C>T (p.His1070=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620430] |
Chr12:21844802 [GRCh38]
Chr12:21997736 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2511T>C (p.Asp837=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620716] |
Chr12:21852500 [GRCh38]
Chr12:22005434 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3473+19C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620887] |
Chr12:21842295 [GRCh38]
Chr12:21995229 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2433C>T (p.Asn811=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619333] |
Chr12:21859658 [GRCh38]
Chr12:22012592 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2092+18T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619564] |
Chr12:21875636 [GRCh38]
Chr12:22028570 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3344C>G (p.Thr1115Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003856469] |
Chr12:21842443 [GRCh38]
Chr12:21995377 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-3C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620728] |
Chr12:21817310 [GRCh38]
Chr12:21970244 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4454A>G (p.Asn1485Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620734] |
Chr12:21806056 [GRCh38]
Chr12:21958990 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2392C>T (p.Pro798Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620893] |
Chr12:21861003 [GRCh38]
Chr12:22013937 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-7A>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619625] |
Chr12:21848253 [GRCh38]
Chr12:22001187 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2005G>C (p.Asp669His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620208] |
Chr12:21882780 [GRCh38]
Chr12:22035714 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.17del (p.Cys6fs) |
deletion |
Dilated cardiomyopathy 1O [RCV003620480] |
Chr12:21936658 [GRCh38]
Chr12:22089592 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3552C>G (p.Thr1184=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620908] |
Chr12:21838092 [GRCh38]
Chr12:21991026 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3892+20T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620242] |
Chr12:21817167 [GRCh38]
Chr12:21970101 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1321-5T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620909] |
Chr12:21908216 [GRCh38]
Chr12:22061150 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3473+6T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620911] |
Chr12:21842308 [GRCh38]
Chr12:21995242 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.883C>A (p.Arg295=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619222] |
Chr12:21913000 [GRCh38]
Chr12:22065934 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3597G>A (p.Leu1199=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620387] |
Chr12:21829030 [GRCh38]
Chr12:21981964 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4211+4G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620388] |
Chr12:21812045 [GRCh38]
Chr12:21964979 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3561C>A (p.Ala1187=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620392] |
Chr12:21838083 [GRCh38]
Chr12:21991017 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2399G>C (p.Gly800Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003814037] |
Chr12:21860996 [GRCh38]
Chr12:22013930 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2811C>G (p.Leu937=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619163] |
Chr12:21848205 [GRCh38]
Chr12:22001139 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4315+7T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620293] |
Chr12:21809845 [GRCh38]
Chr12:21962779 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3474-11C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620523] |
Chr12:21838181 [GRCh38]
Chr12:21991115 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3498T>C (p.Ser1166=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619356] |
Chr12:21838146 [GRCh38]
Chr12:21991080 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2092+20C>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620128] |
Chr12:21875634 [GRCh38]
Chr12:22028568 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3474-15C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620146] |
Chr12:21838185 [GRCh38]
Chr12:21991119 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-18A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620547] |
Chr12:21806078 [GRCh38]
Chr12:21959012 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3772-11A>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620636] |
Chr12:21817318 [GRCh38]
Chr12:21970252 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2092+9_2092+11dup |
duplication |
Dilated cardiomyopathy 1O [RCV003620641] |
Chr12:21875642..21875643 [GRCh38]
Chr12:22028576..22028577 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1802+16T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620647] |
Chr12:21894016 [GRCh38]
Chr12:22046950 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3762T>C (p.Tyr1254=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619430] |
Chr12:21818159 [GRCh38]
Chr12:21971093 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3771G>A (p.Thr1257=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619439] |
Chr12:21818150 [GRCh38]
Chr12:21971084 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2709T>C (p.Asp903=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619453] |
Chr12:21852157 [GRCh38]
Chr12:22005091 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3566G>A (p.Arg1189Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620177] |
Chr12:21838078 [GRCh38]
Chr12:21991012 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.143-5T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619320] |
Chr12:21933928 [GRCh38]
Chr12:22086862 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3946G>A (p.Asp1316Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619386] |
Chr12:21815840 [GRCh38]
Chr12:21968774 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770G>A (p.Asp924Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619569] |
Chr12:21848246 [GRCh38]
Chr12:22001180 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3582T>C (p.Phe1194=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619576] |
Chr12:21829045 [GRCh38]
Chr12:21981979 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2775G>C (p.Met925Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620221] |
Chr12:21848241 [GRCh38]
Chr12:22001175 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1921A>G (p.Thr641Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619508] |
Chr12:21882864 [GRCh38]
Chr12:22035798 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2757A>C (p.Gln919His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619629] |
Chr12:21852109 [GRCh38]
Chr12:22005043 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3670-15C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619645] |
Chr12:21818266 [GRCh38]
Chr12:21971200 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1165-20_1165-19del |
microsatellite |
Dilated cardiomyopathy 1O [RCV003619639] |
Chr12:21910331..21910332 [GRCh38]
Chr12:22063265..22063266 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2186T>A (p.Val729Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619584] |
Chr12:21872637 [GRCh38]
Chr12:22025571 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2038T>C (p.Ser680Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619611] |
Chr12:21875708 [GRCh38]
Chr12:22028642 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2020-15A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003817142] |
Chr12:21875741 [GRCh38]
Chr12:22028675 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1618+1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619914] |
Chr12:21906125 [GRCh38]
Chr12:22059059 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-8_3772-5dup |
duplication |
Dilated cardiomyopathy 1O [RCV003620301] |
Chr12:21817311..21817312 [GRCh38]
Chr12:21970245..21970246 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.284+9T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619160] |
Chr12:21933773 [GRCh38]
Chr12:22086707 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.246G>A (p.Val82=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619881] |
Chr12:21933820 [GRCh38]
Chr12:22086754 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1911+8C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620003] |
Chr12:21887818 [GRCh38]
Chr12:22040752 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3085A>G (p.Lys1029Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620297] |
Chr12:21845614 [GRCh38]
Chr12:21998548 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2770-10T>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620025] |
Chr12:21848256 [GRCh38]
Chr12:22001190 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3036C>T (p.Asp1012=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619166] |
Chr12:21845663 [GRCh38]
Chr12:21998597 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2424+15G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619926] |
Chr12:21860956 [GRCh38]
Chr12:22013890 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2659G>C (p.Asp887His) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620008] |
Chr12:21852207 [GRCh38]
Chr12:22005141 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1549A>T (p.Ser517Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619970] |
Chr12:21906195 [GRCh38]
Chr12:22059129 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2644-11G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620445] |
Chr12:21852233 [GRCh38]
Chr12:22005167 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2851G>A (p.Glu951Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620356] |
Chr12:21848165 [GRCh38]
Chr12:22001099 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2711T>C (p.Val904Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620453] |
Chr12:21852155 [GRCh38]
Chr12:22005089 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1913A>T (p.Gln638Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620456] |
Chr12:21882872 [GRCh38]
Chr12:22035806 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1889C>T (p.Ser630Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620594] |
Chr12:21887848 [GRCh38]
Chr12:22040782 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2191T>G (p.Trp731Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619219] |
Chr12:21872632 [GRCh38]
Chr12:22025566 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4450-11T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620054] |
Chr12:21806071 [GRCh38]
Chr12:21959005 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2867-14T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003620604] |
Chr12:21845846 [GRCh38]
Chr12:21998780 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4101T>A (p.Asp1367Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003852223] |
Chr12:21814645 [GRCh38]
Chr12:21967579 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.684C>T (p.Tyr228=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619239] |
Chr12:21915800 [GRCh38]
Chr12:22068734 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.419A>T (p.Tyr140Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619174] |
Chr12:21917091 [GRCh38]
Chr12:22070025 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2216C>T (p.Pro739Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003619196] |
Chr12:21864460 [GRCh38]
Chr12:22017394 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1660-11T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621471] |
Chr12:21894185 [GRCh38]
Chr12:22047119 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.641G>A (p.Arg214Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621236] |
Chr12:21915843 [GRCh38]
Chr12:22068777 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.284+5G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621275] |
Chr12:21933777 [GRCh38]
Chr12:22086711 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+718T>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003857930] |
Chr12:21805280 [GRCh38]
Chr12:21958214 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3772-16dup |
duplication |
Dilated cardiomyopathy 1O [RCV003846525] |
Chr12:21817322..21817323 [GRCh38]
Chr12:21970256..21970257 [GRCh37]
Chr12:12p12.1 |
benign |
| NM_020297.4(ABCC9):c.4023+15C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003854120] |
Chr12:21815748 [GRCh38]
Chr12:21968682 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2891A>T (p.Asp964Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621215] |
Chr12:21845808 [GRCh38]
Chr12:21998742 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3473+13G>C |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003822656] |
Chr12:21842301 [GRCh38]
Chr12:21995235 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2505+13C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621109] |
Chr12:21859573 [GRCh38]
Chr12:22012507 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3888A>C (p.Thr1296=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621143] |
Chr12:21817191 [GRCh38]
Chr12:21970125 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3705dup (p.Ile1236fs) |
duplication |
Dilated cardiomyopathy 1O [RCV003621303] |
Chr12:21818215..21818216 [GRCh38]
Chr12:21971149..21971150 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4512+713del |
deletion |
Dilated cardiomyopathy 1O [RCV003621342] |
Chr12:21805285 [GRCh38]
Chr12:21958219 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1912-20C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003820809] |
Chr12:21882893 [GRCh38]
Chr12:22035827 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1158T>A (p.Ala386=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003859576] |
Chr12:21910832 [GRCh38]
Chr12:22063766 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1165-20C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621000] |
Chr12:21910332 [GRCh38]
Chr12:22063266 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.105C>G (p.Val35=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621029] |
Chr12:21936570 [GRCh38]
Chr12:22089504 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1817A>G (p.Asn606Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003861308] |
Chr12:21887920 [GRCh38]
Chr12:22040854 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1199C>A (p.Thr400Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621302] |
Chr12:21910278 [GRCh38]
Chr12:22063212 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2866+20T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003867340] |
Chr12:21848130 [GRCh38]
Chr12:22001064 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.422G>C (p.Trp141Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621457] |
Chr12:21917088 [GRCh38]
Chr12:22070022 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1660A>C (p.Thr554Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003870412] |
Chr12:21894174 [GRCh38]
Chr12:22047108 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+10C>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003872226] |
Chr12:21852087 [GRCh38]
Chr12:22005021 [GRCh37]
Chr12:12p12.1 |
likely benign |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 |
copy number gain |
not specified [RCV003986979] |
Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_020297.4(ABCC9):c.2019+13T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621039] |
Chr12:21882753 [GRCh38]
Chr12:22035687 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3772-10C>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621122] |
Chr12:21817317 [GRCh38]
Chr12:21970251 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3096+16T>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621079] |
Chr12:21845587 [GRCh38]
Chr12:21998521 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.353C>T (p.Ser118Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621254] |
Chr12:21925995 [GRCh38]
Chr12:22078929 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| GRCh37/hg19 12p12.1(chr12:22059874-22080237)x1 |
copy number loss |
not specified [RCV003986957] |
Chr12:22059874..22080237 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1266T>G (p.Asn422Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621476] |
Chr12:21910211 [GRCh38]
Chr12:22063145 [GRCh37]
Chr12:12p12.1 |
pathogenic |
| NM_020297.4(ABCC9):c.1164+2dup |
duplication |
Dilated cardiomyopathy 1O [RCV003621491] |
Chr12:21910823..21910824 [GRCh38]
Chr12:22063757..22063758 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2568G>A (p.Leu856=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003823261] |
Chr12:21852443 [GRCh38]
Chr12:22005377 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1645G>A (p.Ala549Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003867814] |
Chr12:21895289 [GRCh38]
Chr12:22048223 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1659+13_1659+14del |
deletion |
Dilated cardiomyopathy 1O [RCV003862986] |
Chr12:21895261..21895262 [GRCh38]
Chr12:22048195..22048196 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3771+4G>A |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003862581] |
Chr12:21818146 [GRCh38]
Chr12:21971080 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1108_1123del (p.Leu369_Gln370insTer) |
deletion |
Dilated cardiomyopathy 1O [RCV003621015] |
Chr12:21910867..21910882 [GRCh38]
Chr12:22063801..22063816 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3413C>T (p.Ala1138Val) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621033] |
Chr12:21842374 [GRCh38]
Chr12:21995308 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2425-16G>T |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621022] |
Chr12:21859682 [GRCh38]
Chr12:22012616 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.2210C>T (p.Ser737Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621164] |
Chr12:21864466 [GRCh38]
Chr12:22017400 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.3820G>T (p.Val1274Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621162] |
Chr12:21817259 [GRCh38]
Chr12:21970193 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2099T>G (p.Leu700Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621175] |
Chr12:21872724 [GRCh38]
Chr12:22025658 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.653C>A (p.Pro218Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003842097] |
Chr12:21915831 [GRCh38]
Chr12:22068765 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2331C>G (p.Asn777Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621339] |
Chr12:21862961 [GRCh38]
Chr12:22015895 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2769+4A>G |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003621296] |
Chr12:21852093 [GRCh38]
Chr12:22005027 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2508T>C (p.Asp836=) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003864373] |
Chr12:21852503 [GRCh38]
Chr12:22005437 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.1580C>A (p.Ser527Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003866419] |
Chr12:21906164 [GRCh38]
Chr12:22059098 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.4391T>G (p.Val1464Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1O [RCV003819925] |
Chr12:21807404 [GRCh38]
Chr12:21960338 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.2867-9dup |
duplication |
ABCC9-related condition [RCV003913883] |
Chr12:21845840..21845841 [GRCh38]
Chr12:21998774..21998775 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.3492_3493del (p.Asp1164fs) |
deletion |
Dilated cardiomyopathy 1O [RCV003984906] |
Chr12:21838151..21838152 [GRCh38]
Chr12:21991085..21991086 [GRCh37]
Chr12:12p12.1 |
uncertain significance |
| NM_020297.4(ABCC9):c.1165-7_1165-6dup |
duplication |
ABCC9-related condition [RCV003924077] |
Chr12:21910317..21910318 [GRCh38]
Chr12:22063251..22063252 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.480G>A (p.Leu160=) |
single nucleotide variant |
ABCC9-related condition [RCV003954697] |
Chr12:21917030 [GRCh38]
Chr12:22069964 [GRCh37]
Chr12:12p12.1 |
likely benign |
| NM_020297.4(ABCC9):c.4450-6_4450-5dup |
duplication |
ABCC9-related condition [RCV003951620] |
Chr12:21806064..21806065 [GRCh38]
Chr12:21958998..21958999 [GRCh37]
Chr12:12p12.1 |
likely benign |
