| NM_000218.3(KCNQ1):c.870G>A (p.Glu290=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377007]|Long QT syndrome [RCV000549258] |
Chr11:2572935 [GRCh38]
Chr11:2594165 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841419]|Long QT syndrome [RCV000530609] |
Chr11:2662015 [GRCh38]
Chr11:2683245 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1823TCA[1] (p.Ile609del) |
microsatellite |
Long QT syndrome [RCV001857945]|not provided [RCV000520401] |
Chr11:2847795..2847797 [GRCh38]
Chr11:2869025..2869027 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.796C>A (p.Leu266Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841878]|Short QT syndrome type 2 [RCV000735250] |
Chr11:2572861 [GRCh38]
Chr11:2594091 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter) |
single nucleotide variant |
Long QT syndrome [RCV000548008] |
Chr11:2572899 [GRCh38]
Chr11:2594129 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.996C>T (p.Phe332=) |
single nucleotide variant |
Long QT syndrome [RCV000550131] |
Chr11:2583509 [GRCh38]
Chr11:2604739 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.230C>T (p.Ser77Phe) |
single nucleotide variant |
Long QT syndrome [RCV001301328]|not provided [RCV000519298] |
Chr11:2445328 [GRCh38]
Chr11:2466558 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) |
deletion |
Atrial fibrillation, familial, 3 [RCV002490900]|Cardiovascular phenotype [RCV000619399]|KCNQ1-related condition [RCV003935379]|Long QT syndrome 1 [RCV003319366]|Long QT syndrome [RCV000552160]|not provided [RCV000519994] |
Chr11:2445295..2445305 [GRCh38]
Chr11:2466525..2466535 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841418]|Long QT syndrome [RCV000554850] |
Chr11:2661992 [GRCh38]
Chr11:2683222 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252730]|Congenital long QT syndrome [RCV000119056]|Long QT syndrome 1 [RCV000030815]|Long QT syndrome [RCV000148547]|not provided [RCV000057723] |
Chr11:2571333 [GRCh38]
Chr11:2592563 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1514+18C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841533]|Long QT syndrome [RCV002054498]|not provided [RCV001610299] |
Chr11:2662099 [GRCh38]
Chr11:2683329 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1590+14T>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000335028]|Cardiac arrhythmia [RCV001841534]|Congenital long QT syndrome [RCV000343301]|Jervell and Lange-Nielsen syndrome 1 [RCV000405757]|Long QT syndrome 1 [RCV000298782]|Long QT syndrome [RCV002054499]|Short QT syndrome type 2 [RCV000283709]|not provided [RCV001355532]|not specified [RCV000035342] |
Chr11:2768933 [GRCh38]
Chr11:2790163 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000360577]|Cardiac arrhythmia [RCV001841535]|Cardiovascular phenotype [RCV000620004]|Jervell and Lange-Nielsen syndrome 1 [RCV000359475]|Long QT syndrome 1 [RCV001094060]|Long QT syndrome [RCV000324628]|Short QT syndrome type 2 [RCV000264808]|not provided [RCV000057650]|not specified [RCV000150875] |
Chr11:2847899 [GRCh38]
Chr11:2869129 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000375847]|Cardiac arrhythmia [RCV001841536]|Cardiovascular phenotype [RCV000622132]|Congenital long QT syndrome [RCV000386352]|Jervell and Lange-Nielsen syndrome 1 [RCV000316585]|Long QT syndrome 1 [RCV001093942]|Long QT syndrome [RCV000229585]|Short QT syndrome type 2 [RCV000281357]|not provided [RCV000057651]|not specified [RCV000216406] |
Chr11:2847914 [GRCh38]
Chr11:2869144 [GRCh37]
Chr11:11p15.4 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618395]|Congenital long QT syndrome [RCV000057792]|Long QT syndrome 1 [RCV000709734]|Long QT syndrome [RCV000030111]|not provided [RCV001532623] |
Chr11:2572970 [GRCh38]
Chr11:2594200 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| KCNQ1, 3-BP DEL |
deletion |
Long QT syndrome 1 [RCV000003259] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057693]|Long QT syndrome 1 [RCV000003260] |
Chr11:2570682 [GRCh38]
Chr11:2591912 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057702]|Long QT syndrome 1 [RCV000003261]|Long QT syndrome [RCV001383882]|not provided [RCV000223880] |
Chr11:2570715 [GRCh38]
Chr11:2591945 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057797]|Long QT syndrome 1 [RCV000003262]|not provided [RCV000182132] |
Chr11:2572981 [GRCh38]
Chr11:2594211 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841222]|Cardiovascular phenotype [RCV002444417]|Congenital long QT syndrome [RCV000057808]|Long QT syndrome 1 [RCV000003263]|Long QT syndrome [RCV001386969]|not provided [RCV000182136] |
Chr11:2583448 [GRCh38]
Chr11:2604678 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841223]|Cardiovascular phenotype [RCV000588393]|Congenital long QT syndrome [RCV000057706]|Long QT syndrome 1 [RCV000003264]|Long QT syndrome [RCV000046088]|not provided [RCV000182086] |
Chr11:2570719 [GRCh38]
Chr11:2591949 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619506]|Congenital long QT syndrome [RCV000057749]|Long QT syndrome 1 [RCV000003265]|Long QT syndrome [RCV000190212]|not provided [RCV000182109] |
Chr11:2572089 [GRCh38]
Chr11:2593319 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620696]|Congenital long QT syndrome [RCV000057769]|Long QT syndrome 1 [RCV000003266]|Long QT syndrome [RCV001192509]|not provided [RCV000182120] |
Chr11:2572882 [GRCh38]
Chr11:2594112 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591617]|Cardiovascular phenotype [RCV000621485]|Congenital long QT syndrome [RCV000057526]|Long QT syndrome 1 [RCV000003267]|Long QT syndrome 1/2, digenic [RCV000003268]|Long QT syndrome [RCV000045932]|not provided [RCV000182154] |
Chr11:2583535 [GRCh38]
Chr11:2604765 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619686]|Long QT syndrome 1 [RCV000003269]|Long QT syndrome [RCV000171124]|not provided [RCV000057528] |
Chr11:2583535 [GRCh38]
Chr11:2604765 [GRCh37]
Chr11:11p15.5 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057536]|Long QT syndrome 1 [RCV000003270]|Long QT syndrome [RCV002512696] |
Chr11:2585213 [GRCh38]
Chr11:2606443 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371756]|Congenital long QT syndrome [RCV000057810]|Long QT syndrome 1 [RCV000003271]|Long QT syndrome [RCV000852434]|not provided [RCV000182137] |
Chr11:2583453 [GRCh38]
Chr11:2604683 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| KCNQ1, 7-BP DEL/8-BP INS, NT1244 |
indel |
Jervell and Lange-Nielsen syndrome [RCV000003272] |
Chr11:11p15.5 |
pathogenic |
| KCNQ1, 1-BP INS, 282G |
insertion |
Jervell and Lange-Nielsen syndrome [RCV000003273] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841224]|Cardiovascular phenotype [RCV000618290]|Congenital long QT syndrome [RCV000057613]|Long QT syndrome 1 [RCV000003274]|Long QT syndrome [RCV000046011]|Prolonged QT interval [RCV000853434]|not provided [RCV000182211] |
Chr11:2776032 [GRCh38]
Chr11:2797262 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622153]|Congenital long QT syndrome [RCV000057796]|Jervell and Lange-Nielsen syndrome 1 [RCV000003275]|Long QT syndrome [RCV001385529]|not provided [RCV000182130] |
Chr11:2572979 [GRCh38]
Chr11:2594209 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001102803]|Cardiac arrhythmia [RCV001841225]|Cardiovascular phenotype [RCV000621158]|Jervell and Lange-Nielsen syndrome 1 [RCV001104722]|Long QT syndrome 1 [RCV000003276]|Long QT syndrome [RCV000541920]|not provided [RCV000057789]|not specified [RCV000182128] |
Chr11:2572963 [GRCh38]
Chr11:2594193 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| KCNQ1, 3-BP DEL, PHE339DEL |
deletion |
Long QT syndrome 1 [RCV000003277] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) |
microsatellite |
Atrial fibrillation, familial, 3 [RCV002476915]|Cardiovascular phenotype [RCV002415390]|Long QT syndrome 1 [RCV000003278]|Long QT syndrome [RCV000692974]|not provided [RCV001567589] |
Chr11:2445300..2445308 [GRCh38]
Chr11:2466530..2466538 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841226]|Cardiovascular phenotype [RCV000251958]|Conduction disorder of the heart [RCV001256915]|Congenital long QT syndrome [RCV000614524]|Jervell and Lange-Nielsen syndrome 1 [RCV001847566]|KCNQ1-Related Disorders [RCV000779058]|Long QT syndrome 1 [RCV000515748]|Long QT syndrome 1, recessive [RCV000003279]|Long QT syndrome [RCV000148548]|not provided [RCV000182196]|not specified [RCV000999897] |
Chr11:2768881 [GRCh38]
Chr11:2790111 [GRCh37]
Chr11:11p15.5 |
pathogenic|benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622131]|Congenital long QT syndrome [RCV000057600]|Long QT syndrome 1, recessive [RCV000003280]|Long QT syndrome [RCV001851605]|not provided [RCV000182202] |
Chr11:2768902 [GRCh38]
Chr11:2790132 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| KCNQ1, 2-BP DEL |
deletion |
Jervell and Lange-Nielsen syndrome [RCV000003281] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.922-1G>C |
single nucleotide variant |
Long QT syndrome 1 [RCV000003282]|Long QT syndrome [RCV002512697] |
Chr11:2583434 [GRCh38]
Chr11:2604664 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) |
single nucleotide variant |
Beckwith-Wiedemann syndrome [RCV002247243]|Cardiovascular phenotype [RCV000621184]|Long QT syndrome 1 [RCV000003283]|Long QT syndrome 2 [RCV000498423]|Long QT syndrome [RCV000045941]|not provided [RCV000182159] |
Chr11:2583545 [GRCh38]
Chr11:2604775 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| KNCQ1, 1-BP INS |
insertion |
Long QT syndrome 1 [RCV000003284] |
Chr11:11p15.5 |
pathogenic |
| KCNQ1, 20-BP DEL, NT1892 |
deletion |
Jervell and Lange-Nielsen syndrome [RCV000003285] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619349]|Congenital long QT syndrome [RCV000057632]|Jervell and Lange-Nielsen syndrome 1 [RCV000003286]|Long QT syndrome 1 [RCV003319300]|Long QT syndrome [RCV000046026]|not provided [RCV000182221] |
Chr11:2778003 [GRCh38]
Chr11:2799233 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| KCNQ1, IVS1 |
variation |
Jervell and Lange-Nielsen syndrome 1 [RCV000003287] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841227]|Cardiovascular phenotype [RCV000622145]|Congenital long QT syndrome [RCV000057633]|Jervell and Lange-Nielsen syndrome 1 [RCV000003289]|Long QT syndrome 1 [RCV000003288]|Long QT syndrome 1 [RCV001258106]|Long QT syndrome [RCV000699476]|not provided [RCV000182223] |
Chr11:2778009 [GRCh38]
Chr11:2799239 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057662]|Long QT syndrome 1 [RCV000003290]|Long QT syndrome [RCV001349040] |
Chr11:2445448 [GRCh38]
Chr11:2466678 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) |
single nucleotide variant |
Acquired susceptibility to long QT syndrome 1 [RCV000003292]|Atrial fibrillation, familial, 3 [RCV000762837]|Cardiac arrhythmia [RCV003591618]|Congenital long QT syndrome [RCV000057628]|KCNQ1-Related Disorders [RCV001824559]|Long QT syndrome 1 [RCV000003291]|Long QT syndrome [RCV001851606]|not provided [RCV000182219] |
Chr11:2777990 [GRCh38]
Chr11:2799220 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|risk factor|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000762834]|Cardiovascular phenotype [RCV002408447]|Congenital long QT syndrome [RCV000057765]|Long QT syndrome 1 [RCV000003294]|Long QT syndrome [RCV000477568]|not provided [RCV000182118]|not specified [RCV001002562] |
Chr11:2572870 [GRCh38]
Chr11:2594100 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415391]|Congenital long QT syndrome [RCV000057766]|KCNQ1-related condition [RCV003982822]|Long QT syndrome 1 [RCV000003295]|Long QT syndrome [RCV000046133]|not provided [RCV000182119] |
Chr11:2572871 [GRCh38]
Chr11:2594101 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| KCNQ1, 1-BP DEL/2-BP INS, NT533 |
indel |
Long QT syndrome 1 [RCV000003297] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.919G>C (p.Val307Leu) |
single nucleotide variant |
Short QT syndrome [RCV000057800]|Short QT syndrome type 2 [RCV000003298] |
Chr11:2572984 [GRCh38]
Chr11:2594214 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| KCNQ1, 1-BP DEL, 562T |
deletion |
Long QT syndrome 1/2, digenic [RCV000003299] |
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057743]|Long QT syndrome 1/2, digenic [RCV000003300] |
Chr11:2572057 [GRCh38]
Chr11:2593287 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1128+5G>T |
single nucleotide variant |
not provided [RCV000729900] |
Chr11:2585312 [GRCh38]
Chr11:2606542 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1686-9T>C |
single nucleotide variant |
Jervell and Lange-Nielsen syndrome 1 [RCV001290956] |
Chr11:2776977 [GRCh38]
Chr11:2798207 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter) |
single nucleotide variant |
Jervell and Lange-Nielsen syndrome 1 [RCV000656433] |
Chr11:2445213 [GRCh38]
Chr11:2466443 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs) |
duplication |
Long QT syndrome 1 [RCV000520192] |
Chr11:2775977..2775978 [GRCh38]
Chr11:2797207..2797208 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1707G>A (p.Lys569=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841422]|Long QT syndrome [RCV000549768] |
Chr11:2777007 [GRCh38]
Chr11:2798237 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.862G>A (p.Val288Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841416]|not provided [RCV000521140] |
Chr11:2572927 [GRCh38]
Chr11:2594157 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg) |
single nucleotide variant |
Long QT syndrome [RCV003647781]|not provided [RCV000521673] |
Chr11:2570676 [GRCh38]
Chr11:2591906 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly) |
single nucleotide variant |
Atrial fibrillation [RCV000057673]|Atrial fibrillation, familial, 3 [RCV000003293] |
Chr11:2527959 [GRCh38]
Chr11:2549189 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| KCNQ1, 9-BP DUP |
duplication |
Atrial fibrillation, familial, 3 [RCV000114749] |
|
pathogenic |
| NM_000218.3(KCNQ1):c.1008del (p.Ile337fs) |
deletion |
not provided [RCV000493679] |
Chr11:2583520 [GRCh38]
Chr11:2604750 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057523]|Long QT syndrome [RCV000045928] |
Chr11:2583526 [GRCh38]
Chr11:2604756 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336178]|Congenital long QT syndrome [RCV000057525]|Long QT syndrome 1 [RCV000515709]|Long QT syndrome [RCV002514220]|not provided [RCV000182311] |
Chr11:2583529 [GRCh38]
Chr11:2604759 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) |
microsatellite |
Atrial fibrillation, familial, 3 [RCV002496698]|Cardiovascular phenotype [RCV000621148]|Long QT syndrome [RCV000045930]|not provided [RCV000505797] |
Chr11:2583527..2583529 [GRCh38]
Chr11:2604757..2604759 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del) |
deletion |
Long QT syndrome 1 [RCV000003277] |
Chr11:2583531..2583533 [GRCh38]
Chr11:2604761..2604763 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617516]|Congenital long QT syndrome [RCV000057529]|Long QT syndrome [RCV000845338]|not provided [RCV000182312] |
Chr11:2583537 [GRCh38]
Chr11:2604767 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362679]|Congenital long QT syndrome [RCV000057530]|Long QT syndrome [RCV001387951] |
Chr11:2583540 [GRCh38]
Chr11:2604770 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1028C>G (p.Pro343Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057531] |
Chr11:2583541 [GRCh38]
Chr11:2604771 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591636]|Cardiovascular phenotype [RCV002381340]|Congenital long QT syndrome [RCV000057534]|Long QT syndrome 1 [RCV002470738]|Long QT syndrome [RCV001384422]|not provided [RCV000223824] |
Chr11:2583544 [GRCh38]
Chr11:2604774 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1032+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003162395]|Long QT syndrome [RCV000190169]|not provided [RCV000182161] |
Chr11:2583546 [GRCh38]
Chr11:2604776 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1032+5G>A |
single nucleotide variant |
Long QT syndrome 1 [RCV000577113] |
Chr11:2583550 [GRCh38]
Chr11:2604780 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=) |
single nucleotide variant |
not provided [RCV000182160] |
Chr11:2583545 [GRCh38]
Chr11:2604775 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057535]|Long QT syndrome [RCV000045943] |
Chr11:2585212 [GRCh38]
Chr11:2606442 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057537]|Long QT syndrome [RCV001378980] |
Chr11:2585224 [GRCh38]
Chr11:2606454 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162396]|Congenital long QT syndrome [RCV000057538]|Long QT syndrome [RCV001377773]|not provided [RCV000182330] |
Chr11:2585225 [GRCh38]
Chr11:2606455 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1048G>C (p.Gly350Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057540] |
Chr11:2585227 [GRCh38]
Chr11:2606457 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1052T>C (p.Phe351Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057541] |
Chr11:2585231 [GRCh38]
Chr11:2606461 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1058T>C (p.Leu353Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057542]|Long QT syndrome [RCV001340231]|not provided [RCV000182166] |
Chr11:2585237 [GRCh38]
Chr11:2606467 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV003155055]|Cardiovascular phenotype [RCV002408545]|Long QT syndrome 1 [RCV000678957]|Long QT syndrome 1 [RCV001258105]|Long QT syndrome [RCV000045950]|not provided [RCV000182167] |
Chr11:2585245 [GRCh38]
Chr11:2606475 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del) |
deletion |
KCNQ1-related condition [RCV003415798]|Long QT syndrome 1 [RCV000577802]|Long QT syndrome [RCV001229325] |
Chr11:2585244..2585249 [GRCh38]
Chr11:2606474..2606479 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1070A>G (p.Gln357Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841621]|Congenital long QT syndrome [RCV000057544]|Long QT syndrome [RCV001368548] |
Chr11:2585249 [GRCh38]
Chr11:2606479 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1067AGCAGA[1] (p.Lys358_Gln359del) |
microsatellite |
Long QT syndrome 1 [RCV000577138] |
Chr11:2585246..2585251 [GRCh38]
Chr11:2606476..2606481 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002496699]|Cardiac arrhythmia [RCV001841622]|Cardiovascular phenotype [RCV000617465]|Long QT syndrome 1 [RCV003319304]|Long QT syndrome [RCV000045954]|not provided [RCV000223715] |
Chr11:2585254 [GRCh38]
Chr11:2606484 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.1079G>C (p.Arg360Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057546]|Inborn genetic diseases [RCV002514221] |
Chr11:2585258 [GRCh38]
Chr11:2606488 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1083_1088dup (p.Lys362_His363insGlnLys) |
duplication |
Long QT syndrome 1 [RCV000577377] |
Chr11:2585258..2585259 [GRCh38]
Chr11:2606488..2606489 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000762835]|Atrial fibrillation, familial, 3 [RCV003330078]|Atrial fibrillation, familial, 3 [RCV003448253]|Cardiac arrhythmia [RCV001841623]|Cardiovascular phenotype [RCV003162397]|Congenital long QT syndrome [RCV000057548]|KCNQ1-Related Disorders [RCV003335077]|Long QT syndrome 1 [RCV000851291]|Long QT syndrome [RCV000045957]|Polyhydramnios [RCV000735400]|not provided [RCV000223836] |
Chr11:2585264 [GRCh38]
Chr11:2606494 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1087C>A (p.His363Asn) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057549]|Long QT syndrome [RCV001306051]|not provided [RCV000182172] |
Chr11:2585266 [GRCh38]
Chr11:2606496 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617196]|Congenital long QT syndrome [RCV000057551]|Long QT syndrome 1 [RCV000496023]|Long QT syndrome [RCV000045959]|not provided [RCV000182173] |
Chr11:2585275 [GRCh38]
Chr11:2606505 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057552]|Jervell and Lange-Nielsen syndrome 1 [RCV002251734]|Long QT syndrome 1 [RCV002054871]|Long QT syndrome [RCV001384915]|not provided [RCV000786152] |
Chr11:2585276 [GRCh38]
Chr11:2606506 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057553]|Long QT syndrome [RCV002514222] |
Chr11:2585276 [GRCh38]
Chr11:2606506 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057554]|Long QT syndrome [RCV001350647] |
Chr11:2585280 [GRCh38]
Chr11:2606510 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057555] |
Chr11:2585290 [GRCh38]
Chr11:2606520 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1115C>A (p.Ala372Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057556] |
Chr11:2585294 [GRCh38]
Chr11:2606524 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841624]|Cardiovascular phenotype [RCV000618916]|Congenital long QT syndrome [RCV000057558]|Long QT syndrome [RCV000045965]|not provided [RCV000721103] |
Chr11:2585300 [GRCh38]
Chr11:2606530 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) |
deletion |
Cardiovascular phenotype [RCV000588183]|Long QT syndrome 1 [RCV002054872]|Long QT syndrome [RCV003531941]|not provided [RCV000182278] |
Chr11:2585300..2585303 [GRCh38]
Chr11:2606530..2606533 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1128+1G>T |
single nucleotide variant |
Long QT syndrome 1 [RCV000576927]|not provided [RCV002223777] |
Chr11:2585308 [GRCh38]
Chr11:2606538 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453353]|Congenital long QT syndrome [RCV000057563]|Long QT syndrome 1 [RCV003319305]|Long QT syndrome [RCV000045968] |
Chr11:2587581 [GRCh38]
Chr11:2608811 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1149dup (p.Ala384fs) |
duplication |
Jervell and Lange-Nielsen syndrome 1 [RCV000577305] |
Chr11:2587589..2587590 [GRCh38]
Chr11:2608819..2608820 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1166C>A (p.Ser389Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057566]|not provided [RCV001753462] |
Chr11:2587607 [GRCh38]
Chr11:2608837 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1172C>T (p.Thr391Ile) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057567] |
Chr11:2587613 [GRCh38]
Chr11:2608843 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1174_1176dup (p.Trp392_Lys393insTrp) |
duplication |
Long QT syndrome 1 [RCV000577639] |
Chr11:2587614..2587615 [GRCh38]
Chr11:2608844..2608845 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841625]|Congenital long QT syndrome [RCV000057569]|Long QT syndrome [RCV000045973]|not provided [RCV000218718] |
Chr11:2587619 [GRCh38]
Chr11:2608849 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002467560]|Cardiac arrhythmia [RCV001841626]|Cardiovascular phenotype [RCV000619428]|Congenital long QT syndrome [RCV000057571]|Familial atrial fibrillation [RCV000356516]|Jervell and Lange-Nielsen syndrome [RCV000265217]|Long QT syndrome 1 [RCV000203070]|Long QT syndrome [RCV000148545]|Wolff-Parkinson-White pattern [RCV000656189]|not provided [RCV000182181]|not specified [RCV000825350] |
Chr11:2587630 [GRCh38]
Chr11:2608860 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1189del (p.Arg397fs) |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV000577453] |
Chr11:2587629 [GRCh38]
Chr11:2608859 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) |
duplication |
Cardiac arrhythmia [RCV001841627]|Cardiovascular phenotype [RCV000253347]|Long QT syndrome [RCV001213769]|not provided [RCV000182279] |
Chr11:2587636..2587637 [GRCh38]
Chr11:2608866..2608867 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) |
deletion |
Cardiac arrhythmia [RCV001841628]|Cardiovascular phenotype [RCV002444506]|Long QT syndrome 1 [RCV001248795]|Long QT syndrome [RCV000045977]|not provided [RCV000627414] |
Chr11:2588719 [GRCh38]
Chr11:2609949 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) |
duplication |
Atrial fibrillation, familial, 3 [RCV002477153]|Cardiovascular phenotype [RCV002444507]|Ear malformation [RCV001814030]|Jervell and Lange-Nielsen syndrome [RCV003318348]|Long QT syndrome 1 [RCV002288546]|Long QT syndrome 1 [RCV003227628]|Long QT syndrome [RCV003531942]|not provided [RCV000523754] |
Chr11:2588718..2588719 [GRCh38]
Chr11:2609948..2609949 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1291dup (p.Val431fs) |
duplication |
Cardiac arrhythmia [RCV001841629]|Long QT syndrome 1 [RCV000577086] |
Chr11:2588748..2588749 [GRCh38]
Chr11:2609978..2609979 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1293dup (p.Thr432fs) |
duplication |
Long QT syndrome 1 [RCV000577727] |
Chr11:2588753..2588754 [GRCh38]
Chr11:2609983..2609984 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) |
deletion |
Cardiac arrhythmia [RCV001841630]|Cardiovascular phenotype [RCV002381341]|Long QT syndrome 1 [RCV003319306]|Long QT syndrome [RCV001380029] |
Chr11:2588799 [GRCh38]
Chr11:2610029 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) |
duplication |
Atrial fibrillation, familial, 3 [RCV002496700]|Congenital long QT syndrome [RCV001449696]|Inborn genetic diseases [RCV002514223]|Long QT syndrome 1 [RCV003319307]|Long QT syndrome [RCV000045982]|not provided [RCV000182282] |
Chr11:2588798..2588799 [GRCh38]
Chr11:2610028..2610029 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1345dup (p.Glu449fs) |
duplication |
Long QT syndrome 1 [RCV000577672] |
Chr11:2588805..2588806 [GRCh38]
Chr11:2610035..2610036 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000764974]|Cardiac arrhythmia [RCV001841631]|Cardiovascular phenotype [RCV000621439]|Congenital long QT syndrome [RCV000057582]|Long QT syndrome 1 [RCV001248784]|Long QT syndrome [RCV000148551]|not provided [RCV000224680] |
Chr11:2588815 [GRCh38]
Chr11:2610045 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1363C>T (p.His455Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057584] |
Chr11:2588824 [GRCh38]
Chr11:2610054 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483048]|Cardiovascular phenotype [RCV000620799]|Congenital long QT syndrome [RCV000057585]|Long QT syndrome 1 [RCV000678936]|Long QT syndrome [RCV001852969]|not provided [RCV000223932]|not specified [RCV000182238] |
Chr11:2445234 [GRCh38]
Chr11:2466464 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) |
microsatellite |
Cardiac arrhythmia [RCV001841632]|Cardiovascular phenotype [RCV002390192]|KCNQ1-related epilepsy [RCV001838979]|Long QT syndrome [RCV001852970]|not provided [RCV000520593] |
Chr11:2662051..2662052 [GRCh38]
Chr11:2683281..2683282 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390193]|Congenital long QT syndrome [RCV000614087]|Long QT syndrome 1 [RCV000577463]|Long QT syndrome [RCV000622334]|not provided [RCV001659985] |
Chr11:2662080 [GRCh38]
Chr11:2683310 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1513_1514del (p.Gln505fs) |
microsatellite |
not provided [RCV000182283] |
Chr11:2662078..2662079 [GRCh38]
Chr11:2683308..2683309 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1514+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000617855]|Long QT syndrome 1 [RCV000577184] |
Chr11:2662082 [GRCh38]
Chr11:2683312 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.151dup (p.Tyr51fs) |
duplication |
Long QT syndrome 1 [RCV000577438] |
Chr11:2445248..2445249 [GRCh38]
Chr11:2466478..2466479 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1539del (p.Ile514fs) |
deletion |
Long QT syndrome 1 [RCV000577134] |
Chr11:2768867 [GRCh38]
Chr11:2790097 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841633]|Cardiovascular phenotype [RCV002399405]|Long QT syndrome [RCV000045993]|not provided [RCV000182246] |
Chr11:2445251 [GRCh38]
Chr11:2466481 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1541T>C (p.Ile514Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057590]|Long QT syndrome 1 [RCV000790440] |
Chr11:2768870 [GRCh38]
Chr11:2790100 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057592]|Long QT syndrome 1 [RCV000735257]|Long QT syndrome [RCV000045995] |
Chr11:2768881 [GRCh38]
Chr11:2790111 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1553G>C (p.Arg518Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057594]|not provided [RCV000182198] |
Chr11:2768882 [GRCh38]
Chr11:2790112 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621710]|Congenital long QT syndrome [RCV000057597]|Long QT syndrome [RCV000045999]|not provided [RCV000182199] |
Chr11:2768888 [GRCh38]
Chr11:2790118 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057599]|Long QT syndrome [RCV000046000]|not provided [RCV000182201] |
Chr11:2768900 [GRCh38]
Chr11:2790130 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057602]|Long QT syndrome [RCV000148558]|not provided [RCV000182203] |
Chr11:2768905 [GRCh38]
Chr11:2790135 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000515204]|Cardiac arrhythmia [RCV001841634]|Cardiovascular phenotype [RCV000619891]|Jervell and Lange-Nielsen syndrome 1 [RCV001847642]|KCNQ1-related condition [RCV003398622]|Long QT syndrome 1 [RCV001029805]|Long QT syndrome [RCV000046003]|not provided [RCV000182204] |
Chr11:2768917 [GRCh38]
Chr11:2790147 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter) |
single nucleotide variant |
Long QT syndrome [RCV001857383]|not provided [RCV000182320] |
Chr11:2775977 [GRCh38]
Chr11:2797207 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000762836]|Cardiovascular phenotype [RCV002390194]|Congenital long QT syndrome [RCV000057604]|Long QT syndrome 1 [RCV001248800]|Long QT syndrome [RCV000046006]|not provided [RCV000223851] |
Chr11:2775984 [GRCh38]
Chr11:2797214 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs) |
indel |
Jervell and Lange-Nielsen syndrome 1 [RCV000003272] |
Chr11:2775999..2776004 [GRCh38]
Chr11:2797229..2797234 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841635]|Cardiovascular phenotype [RCV000619557]|Congenital long QT syndrome [RCV000057608]|Long QT syndrome 1 [RCV001807769]|Long QT syndrome [RCV000046008]|not provided [RCV000182209] |
Chr11:2776006 [GRCh38]
Chr11:2797236 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1643G>A (p.Gly548Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057610]|Long QT syndrome [RCV001340232] |
Chr11:2776012 [GRCh38]
Chr11:2797242 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1661T>C (p.Val554Ala) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057611] |
Chr11:2776030 [GRCh38]
Chr11:2797260 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483049]|Cardiac arrhythmia [RCV003591637]|Cardiovascular phenotype [RCV000619418]|Congenital long QT syndrome [RCV000057614]|Long QT syndrome 1 [RCV003319308]|Long QT syndrome [RCV000046012]|not provided [RCV000182212] |
Chr11:2776033 [GRCh38]
Chr11:2797263 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1686-1G>A |
single nucleotide variant |
Jervell and Lange-Nielsen syndrome 1 [RCV000577159] |
Chr11:2776985 [GRCh38]
Chr11:2798215 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591638]|Congenital long QT syndrome [RCV000057618]|Long QT syndrome [RCV000046014]|not provided [RCV000505737] |
Chr11:2776997 [GRCh38]
Chr11:2798227 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002504937]|Cardiovascular phenotype [RCV002399406]|Congenital long QT syndrome [RCV000057619]|Long QT syndrome 1 [RCV000477954]|Long QT syndrome [RCV000046015]|not provided [RCV000223686]|not specified [RCV000678814] |
Chr11:2776997 [GRCh38]
Chr11:2798227 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841636]|Cardiovascular phenotype [RCV002399407]|Congenital long QT syndrome [RCV000057620]|Long QT syndrome 1 [RCV001258363]|Long QT syndrome [RCV000046016]|not provided [RCV000182217] |
Chr11:2777000 [GRCh38]
Chr11:2798230 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1700T>G (p.Ile567Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057621] |
Chr11:2777000 [GRCh38]
Chr11:2798230 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002496701]|Cardiovascular phenotype [RCV000250706]|Congenital long QT syndrome [RCV000057622]|Long QT syndrome [RCV001192510]|not provided [RCV000505735]|not specified [RCV000678815] |
Chr11:2777002 [GRCh38]
Chr11:2798232 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408546]|Congenital long QT syndrome [RCV000057623]|Long QT syndrome 1 [RCV000239705] |
Chr11:2777003 [GRCh38]
Chr11:2798233 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1710del (p.Ser571fs) |
deletion |
Long QT syndrome 1 [RCV000577806]|Long QT syndrome [RCV003531943] |
Chr11:2777008 [GRCh38]
Chr11:2798238 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1719C>A (p.Phe573Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057627] |
Chr11:2777019 [GRCh38]
Chr11:2798249 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1725_1728del (p.Val576fs) |
deletion |
Long QT syndrome 1 [RCV000577815] |
Chr11:2777023..2777026 [GRCh38]
Chr11:2798253..2798256 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.1756A>G (p.Asn586Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057631] |
Chr11:2777999 [GRCh38]
Chr11:2799229 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841637]|Congenital long QT syndrome [RCV000057634]|Long QT syndrome 1 [RCV001027732]|Long QT syndrome [RCV001852971]|not provided [RCV000182224]|not specified [RCV000223805] |
Chr11:2778011 [GRCh38]
Chr11:2799241 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841638]|Congenital long QT syndrome [RCV000057635]|Long QT syndrome [RCV002513651]|not provided [RCV002223778] |
Chr11:2778014 [GRCh38]
Chr11:2799244 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399408]|Congenital long QT syndrome [RCV000057636]|Long QT syndrome 1 [RCV000678914]|Long QT syndrome [RCV001388792]|not provided [RCV000505785] |
Chr11:2778015 [GRCh38]
Chr11:2799245 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002496702]|Atrial fibrillation, familial, 3 [RCV003224128]|Cardiac arrhythmia [RCV003591639]|Cardiovascular phenotype [RCV000247524]|Congenital long QT syndrome [RCV000057637]|Long QT syndrome 1 [RCV001258107]|Long QT syndrome 1 [RCV001731336]|Long QT syndrome [RCV000046031]|not provided [RCV000182228] |
Chr11:2778024 [GRCh38]
Chr11:2799254 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620919]|Congenital long QT syndrome [RCV000057638]|Long QT syndrome [RCV000046032]|not provided [RCV000182324] |
Chr11:2778024 [GRCh38]
Chr11:2799254 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1842_1844del (p.His614del) |
deletion |
Cardiac arrhythmia [RCV001841639] |
Chr11:2847812..2847814 [GRCh38]
Chr11:2869042..2869044 [GRCh37]
Chr11:11p15.4 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001106172]|Congenital long QT syndrome [RCV000057645]|Jervell and Lange-Nielsen syndrome 1 [RCV001105020]|Long QT syndrome 1 [RCV001106171]|Short QT syndrome type 2 [RCV001105021]|not provided [RCV000522648] |
Chr11:2847827 [GRCh38]
Chr11:2869057 [GRCh37]
Chr11:11p15.4 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591640]|Cardiovascular phenotype [RCV000620378]|Congenital long QT syndrome [RCV000057647]|Long QT syndrome 1 [RCV000755677]|Long QT syndrome [RCV001852972]|not provided [RCV000182325] |
Chr11:2847848 [GRCh38]
Chr11:2869078 [GRCh37]
Chr11:11p15.4 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) |
deletion |
Cardiac arrhythmia [RCV001841640]|Long QT syndrome 1 [RCV000577521] |
Chr11:2847843..2847860 [GRCh38]
Chr11:2869073..2869090 [GRCh37]
Chr11:11p15.4 |
uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1888C>G (p.Pro630Ala) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057648]|Long QT syndrome [RCV003531944] |
Chr11:2847860 [GRCh38]
Chr11:2869090 [GRCh37]
Chr11:11p15.4 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) |
deletion |
Atrial fibrillation, familial, 3 [RCV002490606]|Cardiac arrhythmia [RCV003591641]|Cardiovascular phenotype [RCV002408547]|Jervell and Lange-Nielsen syndrome 1 [RCV000003285]|KCNQ1-related condition [RCV003915012]|Long QT syndrome [RCV001386478]|not provided [RCV000182287] |
Chr11:2847863..2847882 [GRCh38]
Chr11:2869093..2869112 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1893del (p.Arg632fs) |
deletion |
Cardiac arrhythmia [RCV001841641]|Long QT syndrome [RCV000046039]|not provided [RCV001787845] |
Chr11:2847859 [GRCh38]
Chr11:2869089 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) |
duplication |
Cardiac arrhythmia [RCV001841642]|Cardiovascular phenotype [RCV000622116]|Congenital long QT syndrome [RCV001195549]|Long QT syndrome 1 [RCV000003284]|Long QT syndrome 1 [RCV002288547]|Long QT syndrome [RCV000046040]|not provided [RCV000182288] |
Chr11:2847858..2847859 [GRCh38]
Chr11:2869088..2869089 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483050]|Congenital long QT syndrome [RCV000057653]|Long QT syndrome 1 [RCV000495985]|Long QT syndrome [RCV001305107]|not provided [RCV002223779]|not specified [RCV000454712] |
Chr11:2445117 [GRCh38]
Chr11:2466347 [GRCh37]
Chr11:11p15.5 |
pathogenic|benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.2025dup (p.Ser676fs) |
duplication |
Long QT syndrome [RCV001852973]|not provided [RCV000182289] |
Chr11:2847993..2847994 [GRCh38]
Chr11:2869223..2869224 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) |
microsatellite |
Atrial fibrillation, familial, 3 [RCV002483051]|Cardiovascular phenotype [RCV003362680]|Long QT syndrome 1 [RCV000576974]|Long QT syndrome [RCV001852974]|not specified [RCV001280649] |
Chr11:2445299..2445300 [GRCh38]
Chr11:2466529..2466530 [GRCh37]
Chr11:11p15.5 |
uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002477154]|Cardiovascular phenotype [RCV000620808]|Congenital long QT syndrome [RCV000057655]|Long QT syndrome 1 [RCV000415657]|Long QT syndrome [RCV000627157]|Short QT syndrome type 2 [RCV000415717]|not provided [RCV001579481]|not specified [RCV003155056] |
Chr11:2445315 [GRCh38]
Chr11:2466545 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.287del (p.Thr96fs) |
deletion |
Long QT syndrome 1 [RCV000577358] |
Chr11:2445385 [GRCh38]
Chr11:2466615 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057656] |
Chr11:2445100 [GRCh38]
Chr11:2466330 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) |
single nucleotide variant |
Long QT syndrome [RCV000046047]|not provided [RCV000057658]|not specified [RCV000182259] |
Chr11:2445426 [GRCh38]
Chr11:2466656 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321544]|Congenital long QT syndrome [RCV000057659]|Long QT syndrome [RCV002513652]|not provided [RCV000182260] |
Chr11:2445430 [GRCh38]
Chr11:2466660 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453354]|Congenital long QT syndrome [RCV000057660]|Long QT syndrome [RCV001378785] |
Chr11:2445439 [GRCh38]
Chr11:2466669 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453355]|Congenital long QT syndrome [RCV000057661]|Long QT syndrome [RCV001312785] |
Chr11:2445442 [GRCh38]
Chr11:2466672 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.363dup (p.Cys122fs) |
duplication |
Long QT syndrome 1 [RCV000577527] |
Chr11:2445458..2445459 [GRCh38]
Chr11:2466688..2466689 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057664]|Long QT syndrome [RCV001368545]|not provided [RCV000182262] |
Chr11:2445463 [GRCh38]
Chr11:2466693 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841643]|Congenital long QT syndrome [RCV000057667]|Long QT syndrome [RCV001852975] |
Chr11:2527935 [GRCh38]
Chr11:2549165 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.407G>T (p.Cys136Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057670] |
Chr11:2527948 [GRCh38]
Chr11:2549178 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057671]|Long QT syndrome [RCV001852976]|not provided [RCV000182252] |
Chr11:2527950 [GRCh38]
Chr11:2549180 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841644]|Congenital long QT syndrome [RCV000057676]|Long QT syndrome [RCV001341212]|not provided [RCV001556734] |
Chr11:2527977 [GRCh38]
Chr11:2549207 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.449C>G (p.Ala150Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057678] |
Chr11:2527990 [GRCh38]
Chr11:2549220 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV000003281]|Long QT syndrome [RCV001061673]|not provided [RCV000182294] |
Chr11:2527992..2527993 [GRCh38]
Chr11:2549222..2549223 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.470T>G (p.Phe157Cys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057680]|Long QT syndrome [RCV002514224] |
Chr11:2528011 [GRCh38]
Chr11:2549241 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.477+5G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841645]|Cardiovascular phenotype [RCV002336179]|Congenital long QT syndrome [RCV000826192]|Long QT syndrome 1 [RCV000851189]|Long QT syndrome 1 [RCV002288548]|Long QT syndrome [RCV000046061]|not provided [RCV000182254]|not specified [RCV000506366] |
Chr11:2528023 [GRCh38]
Chr11:2549253 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.477+5G>C |
single nucleotide variant |
not provided [RCV000493008] |
Chr11:2528023 [GRCh38]
Chr11:2549253 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336180]|Congenital long QT syndrome [RCV000057681]|Long QT syndrome [RCV002514225] |
Chr11:2570628 [GRCh38]
Chr11:2591858 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.488del (p.Leu163fs) |
deletion |
Cardiovascular phenotype [RCV000618367]|Congenital long QT syndrome [RCV000217623]|Long QT syndrome 1 [RCV000709731]|Long QT syndrome [RCV001215919]|not provided [RCV000182264] |
Chr11:2570638 [GRCh38]
Chr11:2591868 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) |
deletion |
Long QT syndrome 1 [RCV000003259] |
Chr11:2570650..2570652 [GRCh38]
Chr11:2591880..2591882 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841646]|Cardiovascular phenotype [RCV000588586]|Congenital long QT syndrome [RCV000057684]|Long QT syndrome 1 [RCV000234807]|Long QT syndrome [RCV000046066]|not provided [RCV000223900] |
Chr11:2570652 [GRCh38]
Chr11:2591882 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618982]|Congenital long QT syndrome [RCV000057685]|Long QT syndrome [RCV000627154]|not provided [RCV000182077] |
Chr11:2570652 [GRCh38]
Chr11:2591882 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.504del (p.Thr169fs) |
deletion |
Cardiovascular phenotype [RCV002336181]|Long QT syndrome 1 [RCV000577363]|Long QT syndrome [RCV001385526]|not provided [RCV001008071] |
Chr11:2570652 [GRCh38]
Chr11:2591882 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057686]|Long QT syndrome 1 [RCV003319309] |
Chr11:2570656 [GRCh38]
Chr11:2591886 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002490607]|Long QT syndrome [RCV000046070] |
Chr11:2570663 [GRCh38]
Chr11:2591893 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057688]|Recurrent spontaneous abortion [RCV001530975] |
Chr11:2570668 [GRCh38]
Chr11:2591898 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002504938]|Cardiac arrhythmia [RCV001841647]|Cardiovascular phenotype [RCV002345338]|Congenital long QT syndrome [RCV000057689]|Long QT syndrome 1 [RCV000587627]|Long QT syndrome [RCV000046072]|not provided [RCV000182078] |
Chr11:2570670 [GRCh38]
Chr11:2591900 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002496703]|Cardiovascular phenotype [RCV002336182]|Congenital long QT syndrome [RCV000057690]|Long QT syndrome 1 [RCV000984322]|Long QT syndrome [RCV001386000]|not provided [RCV000223741] |
Chr11:2570671 [GRCh38]
Chr11:2591901 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162398]|Congenital long QT syndrome [RCV000057691] |
Chr11:2570671 [GRCh38]
Chr11:2591901 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591642]|Cardiovascular phenotype [RCV000244422]|Congenital long QT syndrome [RCV000057692]|Long QT syndrome 1 [RCV001028063]|Long QT syndrome 1 [RCV001258060]|Long QT syndrome [RCV000148553]|not provided [RCV000182081] |
Chr11:2570682 [GRCh38]
Chr11:2591912 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs) |
indel |
Long QT syndrome 1 [RCV000003297] |
Chr11:2570683 [GRCh38]
Chr11:2591913 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841648]|Cardiovascular phenotype [RCV000620835]|Congenital long QT syndrome [RCV000057694]|KCNQ1-related condition [RCV003982867]|Long QT syndrome 1 [RCV000234794]|Long QT syndrome [RCV000148544]|not provided [RCV000505781] |
Chr11:2570685 [GRCh38]
Chr11:2591915 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345339]|Congenital long QT syndrome [RCV000057698]|Long QT syndrome 1 [RCV000988472] |
Chr11:2570701 [GRCh38]
Chr11:2591931 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057700]|Long QT syndrome [RCV001379025]|not provided [RCV002223780] |
Chr11:2570706 [GRCh38]
Chr11:2591936 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057701]|Long QT syndrome 1 [RCV003319310]|Long QT syndrome [RCV000046081]|not provided [RCV000182084] |
Chr11:2570710 [GRCh38]
Chr11:2591940 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.562del (p.Trp188fs) |
deletion |
Long QT syndrome 1/2, digenic [RCV000003299] |
Chr11:2570712 [GRCh38]
Chr11:2591942 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.566G>A (p.Gly189Glu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057704] |
Chr11:2570716 [GRCh38]
Chr11:2591946 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) |
duplication |
Cardiovascular phenotype [RCV000617403]|Jervell and Lange-Nielsen syndrome 1 [RCV000003273]|Long QT syndrome 1 [RCV003319311]|Long QT syndrome [RCV000046086]|not provided [RCV000182266] |
Chr11:2570712..2570713 [GRCh38]
Chr11:2591942..2591943 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000244400]|Congenital long QT syndrome [RCV000057705]|Long QT syndrome 1 [RCV002259313]|Long QT syndrome [RCV001380572]|not provided [RCV001705704] |
Chr11:2570718 [GRCh38]
Chr11:2591948 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.572T>C (p.Leu191Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057708] |
Chr11:2570722 [GRCh38]
Chr11:2591952 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) |
deletion |
Cardiac arrhythmia [RCV003591643]|Cardiovascular phenotype [RCV000590377]|Congenital long QT syndrome [RCV000602841]|Jervell and Lange-Nielsen syndrome 1 [RCV000144973]|KCNQ1-Related Disorders [RCV003335078]|Long QT syndrome 1 [RCV000853261]|Long QT syndrome 1 [RCV001258104]|Long QT syndrome [RCV000233139]|not provided [RCV000182268] |
Chr11:2570720..2570724 [GRCh38]
Chr11:2591950..2591954 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.575G>C (p.Arg192Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057710]|Long QT syndrome [RCV001320479]|not provided [RCV001753463] |
Chr11:2570725 [GRCh38]
Chr11:2591955 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.577T>C (p.Phe193Leu) |
single nucleotide variant |
Long QT syndrome 1 [RCV000576965] |
Chr11:2570727 [GRCh38]
Chr11:2591957 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057712]|Long QT syndrome [RCV001349042]|not provided [RCV000223826] |
Chr11:2570730 [GRCh38]
Chr11:2591960 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.585del (p.Lys196fs) |
deletion |
Cardiac arrhythmia [RCV003591644]|Cardiovascular phenotype [RCV002354240]|Congenital long QT syndrome [RCV000599840]|Long QT syndrome [RCV000196205]|not provided [RCV000182269] |
Chr11:2570734 [GRCh38]
Chr11:2591964 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483052]|Cardiac arrhythmia [RCV003591645]|Cardiovascular phenotype [RCV000620936]|Congenital long QT syndrome [RCV000057718]|Jervell and Lange-Nielsen syndrome [RCV003492374]|Long QT syndrome 1 [RCV003236664]|Long QT syndrome [RCV001379267]|not provided [RCV000182091] |
Chr11:2570754 [GRCh38]
Chr11:2591984 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.610A>T (p.Ile204Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057721] |
Chr11:2571330 [GRCh38]
Chr11:2592560 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057722]|Long QT syndrome [RCV000046098]|not provided [RCV001507784] |
Chr11:2571332 [GRCh38]
Chr11:2592562 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.626C>T (p.Ser209Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057726] |
Chr11:2571346 [GRCh38]
Chr11:2592576 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591646]|Congenital long QT syndrome [RCV000057727]|Long QT syndrome 1 [RCV003485533]|Long QT syndrome [RCV001295604]|not provided [RCV000255103] |
Chr11:2571363 [GRCh38]
Chr11:2592593 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.663_664dup (p.Phe222fs) |
microsatellite |
Long QT syndrome 1 [RCV000577090] |
Chr11:2571380..2571381 [GRCh38]
Chr11:2592610..2592611 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002504939]|Cardiac arrhythmia [RCV001841649]|Cardiovascular phenotype [RCV002362677]|Congenital long QT syndrome [RCV000057730]|KCNQ1-Related Disorders [RCV003335079]|Long QT syndrome 1 [RCV001256914]|Long QT syndrome [RCV000046103]|not provided [RCV000182302] |
Chr11:2571394 [GRCh38]
Chr11:2592624 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.683+5G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841650]|Cardiovascular phenotype [RCV002362678]|Long QT syndrome 1 [RCV002267608]|Long QT syndrome [RCV001389794]|not provided [RCV000182098]|not specified [RCV001255476] |
Chr11:2571408 [GRCh38]
Chr11:2592638 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000115009]|Congenital long QT syndrome [RCV000057732]|KCNQ1-Related Disorders [RCV003335080]|Long QT syndrome [RCV001320480]|not provided [RCV000182099] |
Chr11:2572015 [GRCh38]
Chr11:2593245 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591647]|Cardiovascular phenotype [RCV002362679]|Congenital long QT syndrome [RCV000057733]|Long QT syndrome 1 [RCV000240642]|Long QT syndrome [RCV001385527]|not provided [RCV000182100] |
Chr11:2572020 [GRCh38]
Chr11:2593250 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000115007]|Atrial fibrillation, familial, 3 [RCV000762833]|Cardiovascular phenotype [RCV002371883]|Congenital long QT syndrome [RCV000057734]|Long QT syndrome 1 [RCV000115008]|Long QT syndrome [RCV000046107]|not provided [RCV000182101] |
Chr11:2572021 [GRCh38]
Chr11:2593251 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841651]|Congenital long QT syndrome [RCV000057735]|Long QT syndrome [RCV000046108] |
Chr11:2572033 [GRCh38]
Chr11:2593263 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371884]|Congenital long QT syndrome [RCV000057736] |
Chr11:2572045 [GRCh38]
Chr11:2593275 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371885]|Congenital long QT syndrome [RCV000057738]|Long QT syndrome 1 [RCV003319312]|Long QT syndrome [RCV000046110]|Wolff-Parkinson-White pattern [RCV000656159]|not provided [RCV000182103] |
Chr11:2572053 [GRCh38]
Chr11:2593283 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591648]|Cardiovascular phenotype [RCV002381342]|Congenital long QT syndrome [RCV000057741]|Long QT syndrome [RCV000046111]|not provided [RCV000255620] |
Chr11:2572056 [GRCh38]
Chr11:2593286 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841652]|Cardiovascular phenotype [RCV002381343]|Congenital long QT syndrome [RCV000057742]|Jervell and Lange-Nielsen syndrome 1 [RCV001807770]|Jervell and Lange-Nielsen syndrome [RCV003482908]|KCNQ1-related condition [RCV003964901]|Long QT syndrome [RCV001385528] |
Chr11:2572057 [GRCh38]
Chr11:2593287 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.743_744delinsTC (p.Trp248Phe) |
indel |
Jervell and Lange-Nielsen syndrome 1 [RCV000576986] |
Chr11:2572072..2572073 [GRCh38]
Chr11:2593302..2593303 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.749T>A (p.Leu250His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057746] |
Chr11:2572078 [GRCh38]
Chr11:2593308 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057748]|Long QT syndrome 1 [RCV001258361]|Long QT syndrome [RCV001852977]|not provided [RCV000182106] |
Chr11:2572081 [GRCh38]
Chr11:2593311 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620025]|Congenital long QT syndrome [RCV000057751] |
Chr11:2572089 [GRCh38]
Chr11:2593319 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.760_768del (p.Val254_Phe256del) |
deletion |
not provided [RCV000182332] |
Chr11:2572088..2572096 [GRCh38]
Chr11:2593318..2593326 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.772C>A (p.His258Asn) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057752] |
Chr11:2572101 [GRCh38]
Chr11:2593331 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.773A>G (p.His258Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057754]|not provided [RCV000182111] |
Chr11:2572102 [GRCh38]
Chr11:2593332 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619999]|Congenital long QT syndrome [RCV000057755]|Long QT syndrome 1 [RCV000678929]|Long QT syndrome [RCV000046123]|not provided [RCV000223916] |
Chr11:2572104 [GRCh38]
Chr11:2593334 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001814031]|Cardiac arrhythmia [RCV001841653]|Cardiovascular phenotype [RCV002408548]|Congenital long QT syndrome [RCV000057756]|KCNQ1-Related Disorders [RCV001813753]|Long QT syndrome 1 [RCV000709733]|Long QT syndrome [RCV000046124]|Short QT syndrome type 2 [RCV001843471]|not provided [RCV000182113] |
Chr11:2572105 [GRCh38]
Chr11:2593335 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408549]|Congenital long QT syndrome [RCV000057757]|Long QT syndrome [RCV001390400]|not provided [RCV000182114] |
Chr11:2572105 [GRCh38]
Chr11:2593335 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057758]|Long QT syndrome [RCV001368546] |
Chr11:2572846 [GRCh38]
Chr11:2594076 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057760]|Long QT syndrome [RCV001381194] |
Chr11:2572848 [GRCh38]
Chr11:2594078 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.784C>G (p.Leu262Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057761]|not provided [RCV001753464] |
Chr11:2572849 [GRCh38]
Chr11:2594079 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.794C>T (p.Thr265Ile) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057762]|not provided [RCV000182115] |
Chr11:2572859 [GRCh38]
Chr11:2594089 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.796del (p.Leu266fs) |
deletion |
Atrial fibrillation, familial, 3 [RCV002504940]|Cardiovascular phenotype [RCV002415499]|Long QT syndrome 1 [RCV000735818]|Long QT syndrome [RCV001038095]|not provided [RCV000182270] |
Chr11:2572859 [GRCh38]
Chr11:2594089 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483053]|Cardiovascular phenotype [RCV000250332]|Congenital long QT syndrome [RCV000057763]|Long QT syndrome [RCV000046131]|not provided [RCV000182116] |
Chr11:2572862 [GRCh38]
Chr11:2594092 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002490608]|Cardiovascular phenotype [RCV002415500]|Congenital long QT syndrome [RCV000057767]|Long QT syndrome [RCV000046134]|not provided [RCV000523854] |
Chr11:2572880 [GRCh38]
Chr11:2594110 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057770]|Long QT syndrome [RCV001852978] |
Chr11:2572883 [GRCh38]
Chr11:2594113 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.824T>C (p.Phe275Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057772] |
Chr11:2572889 [GRCh38]
Chr11:2594119 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) |
microsatellite |
Long QT syndrome 1 [RCV000239632]|Long QT syndrome [RCV001346356]|not provided [RCV001588868] |
Chr11:2572886..2572888 [GRCh38]
Chr11:2594116..2594118 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.2(KCNQ1):c.826_828delTCC (p.Ser277del) |
deletion |
Long QT syndrome, LQT1 subtype [RCV000046139] |
Chr11:2572891..2572893 [GRCh38]
Chr11:2594121..2594123 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) |
microsatellite |
Long QT syndrome 1 [RCV000239635]|Long QT syndrome [RCV001209649]|not provided [RCV000182333]|not specified [RCV000678811] |
Chr11:2572890..2572892 [GRCh38]
Chr11:2594120..2594122 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057774]|Long QT syndrome [RCV000046141]|not provided [RCV000182308] |
Chr11:2572895 [GRCh38]
Chr11:2594125 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591649]|Cardiovascular phenotype [RCV000619785]|Congenital long QT syndrome [RCV000057775]|KCNQ1-related condition [RCV003398623]|Long QT syndrome 1 [RCV003319313]|Long QT syndrome [RCV000046142]|not provided [RCV000182123] |
Chr11:2572895 [GRCh38]
Chr11:2594125 [GRCh37]
Chr11:11p15.5 |
pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841654]|Congenital long QT syndrome [RCV000057777]|Long QT syndrome [RCV000046143] |
Chr11:2572904 [GRCh38]
Chr11:2594134 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841655]|Cardiovascular phenotype [RCV000618222]|Congenital long QT syndrome [RCV000057782]|Long QT syndrome [RCV001316443]|not provided [RCV001588869]|not specified [RCV000150869] |
Chr11:2572925 [GRCh38]
Chr11:2594155 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) |
deletion |
Cardiac arrhythmia [RCV001841656]|Cardiovascular phenotype [RCV002371886]|Long QT syndrome [RCV001050219]|not provided [RCV000182271] |
Chr11:2572923..2572941 [GRCh38]
Chr11:2594153..2594171 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001102801]|Atrial fibrillation, familial, 3 [RCV002504941]|Cardiac arrhythmia [RCV001841657]|Congenital long QT syndrome [RCV000057783]|Jervell and Lange-Nielsen syndrome 1 [RCV001102800]|Long QT syndrome 1 [RCV001102798]|Long QT syndrome [RCV001852979]|Short QT syndrome type 2 [RCV001102799]|not specified [RCV000455757] |
Chr11:2572933 [GRCh38]
Chr11:2594163 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.904G>A (p.Ala302Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057790] |
Chr11:2572969 [GRCh38]
Chr11:2594199 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057794]|Long QT syndrome [RCV003531945] |
Chr11:2572975 [GRCh38]
Chr11:2594205 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.913T>C (p.Trp305Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057795] |
Chr11:2572978 [GRCh38]
Chr11:2594208 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002496704]|Cardiac arrhythmia [RCV001841658]|Cardiovascular phenotype [RCV000619717]|Congenital long QT syndrome [RCV000826193]|Long QT syndrome [RCV000046150]|not provided [RCV000254708] |
Chr11:2572979 [GRCh38]
Chr11:2594209 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.917G>T (p.Gly306Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057799] |
Chr11:2572982 [GRCh38]
Chr11:2594212 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.921+1G>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002496705]|Cardiovascular phenotype [RCV002444508]|Long QT syndrome [RCV001377884]|not provided [RCV000182134] |
Chr11:2572987 [GRCh38]
Chr11:2594217 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.921G>A (p.Val307=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371887]|not provided [RCV000182133] |
Chr11:2572986 [GRCh38]
Chr11:2594216 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.921_921+2del |
microsatellite |
Long QT syndrome 1 [RCV000577248] |
Chr11:2572983..2572985 [GRCh38]
Chr11:2594213..2594215 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.922-2A>C |
single nucleotide variant |
Long QT syndrome 1 [RCV000577617] |
Chr11:2583433 [GRCh38]
Chr11:2604663 [GRCh37]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.923T>A (p.Val308Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057801] |
Chr11:2583436 [GRCh38]
Chr11:2604666 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.926C>G (p.Thr309Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057802] |
Chr11:2583439 [GRCh38]
Chr11:2604669 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057803]|Long QT syndrome [RCV001379437] |
Chr11:2583439 [GRCh38]
Chr11:2604669 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591650]|Congenital long QT syndrome [RCV000057804]|Long QT syndrome [RCV001852980]|not provided [RCV000520168] |
Chr11:2583441 [GRCh38]
Chr11:2604671 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057807]|Long QT syndrome 1 [RCV003319314]|Long QT syndrome [RCV002513653] |
Chr11:2583445 [GRCh38]
Chr11:2604675 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.939C>G (p.Ile313Met) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057809] |
Chr11:2583452 [GRCh38]
Chr11:2604682 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621036]|Congenital long QT syndrome [RCV000057811] |
Chr11:2583453 [GRCh38]
Chr11:2604683 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.940G>T (p.Gly314Cys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057812] |
Chr11:2583453 [GRCh38]
Chr11:2604683 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444509]|Congenital long QT syndrome [RCV000057813]|Long QT syndrome [RCV002514226]|not provided [RCV001555578] |
Chr11:2583454 [GRCh38]
Chr11:2604684 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371888]|Congenital long QT syndrome [RCV000057815]|Long QT syndrome [RCV001387949]|not provided [RCV003156223] |
Chr11:2583457 [GRCh38]
Chr11:2604687 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619103]|Congenital long QT syndrome [RCV000057816]|Long QT syndrome 1 [RCV000709732]|Long QT syndrome [RCV000678812]|not provided [RCV000182138] |
Chr11:2583457 [GRCh38]
Chr11:2604687 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057817]|Long QT syndrome [RCV003531946] |
Chr11:2583457 [GRCh38]
Chr11:2604687 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057818]|Long QT syndrome 1 [RCV003327365]|Long QT syndrome [RCV001368547]|not provided [RCV000182139] |
Chr11:2583459 [GRCh38]
Chr11:2604689 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.946G>C (p.Gly316Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057819] |
Chr11:2583459 [GRCh38]
Chr11:2604689 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.947G>A (p.Gly316Glu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057820] |
Chr11:2583460 [GRCh38]
Chr11:2604690 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV000586037]|Congenital long QT syndrome [RCV000057822]|Long QT syndrome [RCV001389796]|not provided [RCV000182310] |
Chr11:2583462 [GRCh38]
Chr11:2604692 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.954G>C (p.Lys318Asn) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057825]|not provided [RCV000182142] |
Chr11:2583467 [GRCh38]
Chr11:2604697 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.958C>G (p.Pro320Ala) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057826] |
Chr11:2583471 [GRCh38]
Chr11:2604701 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.959C>A (p.Pro320His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057828]|Long QT syndrome [RCV001387950] |
Chr11:2583472 [GRCh38]
Chr11:2604702 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381344]|Congenital long QT syndrome [RCV000057829]|Long QT syndrome 1 [RCV001258360]|Long QT syndrome [RCV001386679]|not provided [RCV000182147] |
Chr11:2583477 [GRCh38]
Chr11:2604707 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057830]|Long QT syndrome 1 [RCV000853590] |
Chr11:2583478 [GRCh38]
Chr11:2604708 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247480]|Congenital long QT syndrome [RCV000057831]|Long QT syndrome [RCV000190213]|not provided [RCV000182149] |
Chr11:2583478 [GRCh38]
Chr11:2604708 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371889]|Congenital long QT syndrome [RCV000057832]|Long QT syndrome 1 [RCV001248782]|Long QT syndrome [RCV000046184]|not provided [RCV000182150] |
Chr11:2583486 [GRCh38]
Chr11:2604716 [GRCh37]
Chr11:11p15.5 |
pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) |
microsatellite |
Atrial fibrillation, familial, 3 [RCV002496706]|Cardiovascular phenotype [RCV003298093]|Long QT syndrome [RCV001382530]|not provided [RCV000182273] |
Chr11:2583508..2583509 [GRCh38]
Chr11:2604738..2604739 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000331626]|Cardiac arrhythmia [RCV001841555]|Cardiovascular phenotype [RCV000242188]|Jervell and Lange-Nielsen syndrome 1 [RCV000383717]|Long QT syndrome 1 [RCV001093936]|Long QT syndrome [RCV000203763]|Short QT syndrome type 2 [RCV000274151]|not provided [RCV000057573]|not specified [RCV000035339] |
Chr11:2587663 [GRCh38]
Chr11:2608893 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000218.3(KCNQ1):c.1394-14C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000265135]|Cardiac arrhythmia [RCV001841556]|Congenital long QT syndrome [RCV000259662]|Jervell and Lange-Nielsen syndrome 1 [RCV000317977]|Long QT syndrome 1 [RCV000358014]|Long QT syndrome [RCV002054558]|Short QT syndrome type 2 [RCV000374940]|not provided [RCV001636619]|not specified [RCV000035340] |
Chr11:2661947 [GRCh38]
Chr11:2683177 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000347940]|Cardiac arrhythmia [RCV001841557]|Cardiovascular phenotype [RCV000252365]|Congenital long QT syndrome [RCV000308018]|Jervell and Lange-Nielsen syndrome 1 [RCV000341890]|Long QT syndrome 1 [RCV001093940]|Long QT syndrome [RCV000290497]|Short QT syndrome type 2 [RCV000394385]|not provided [RCV000589971]|not specified [RCV000035341] |
Chr11:2662022 [GRCh38]
Chr11:2683252 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) |
duplication |
Atrial fibrillation, familial, 3 [RCV000114749]|Cardiovascular phenotype [RCV000250643]|KCNQ1-related condition [RCV003914916]|Long QT syndrome [RCV001080143]|Ventricular fibrillation [RCV000852643]|not provided [RCV001719723]|not specified [RCV000035343] |
Chr11:2445250..2445251 [GRCh38]
Chr11:2466480..2466481 [GRCh37]
Chr11:11p15.5 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000300054]|Cardiac arrhythmia [RCV001841558]|Cardiovascular phenotype [RCV000253955]|Congenital long QT syndrome [RCV000397505]|Jervell and Lange-Nielsen syndrome 1 [RCV000397478]|Long QT syndrome 1 [RCV001094058]|Long QT syndrome [RCV000368527]|Short QT syndrome type 2 [RCV000315174]|not specified [RCV000035344] |
Chr11:2776007 [GRCh38]
Chr11:2797237 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000330439]|Cardiac arrhythmia [RCV001841559]|Cardiovascular phenotype [RCV000245782]|Congenital long QT syndrome [RCV000356002]|Jervell and Lange-Nielsen syndrome 1 [RCV000276443]|Long QT syndrome 1 [RCV001093984]|Long QT syndrome [RCV000389609]|Short QT syndrome type 2 [RCV000275123]|not provided [RCV000757421]|not specified [RCV000035345] |
Chr11:2847958 [GRCh38]
Chr11:2869188 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.478-10G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000398075]|Cardiac arrhythmia [RCV001841560]|Congenital long QT syndrome [RCV000315237]|Jervell and Lange-Nielsen syndrome 1 [RCV000299402]|Long QT syndrome 1 [RCV001094024]|Long QT syndrome [RCV000354280]|Short QT syndrome type 2 [RCV000399181]|not provided [RCV001705644]|not specified [RCV000035346] |
Chr11:2570618 [GRCh38]
Chr11:2591848 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.478-8C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841561]|Congenital long QT syndrome [RCV000271606]|Familial atrial fibrillation [RCV000330352]|Jervell and Lange-Nielsen syndrome [RCV000366245]|Long QT syndrome [RCV000369903]|Short QT syndrome [RCV000275258]|not specified [RCV000035347] |
Chr11:2570620 [GRCh38]
Chr11:2591850 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841562]|KCNQ1-related condition [RCV003914917]|Long QT syndrome [RCV001083578]|not provided [RCV000057724]|not specified [RCV000035348] |
Chr11:2571339 [GRCh38]
Chr11:2592569 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.720C>T (p.His240=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000312089]|Cardiac arrhythmia [RCV001841563]|Cardiovascular phenotype [RCV000250450]|Jervell and Lange-Nielsen syndrome 1 [RCV000395472]|Long QT syndrome 1 [RCV001094029]|Long QT syndrome [RCV000204862]|Short QT syndrome type 2 [RCV000308709]|not provided [RCV000756283]|not specified [RCV000035349] |
Chr11:2572049 [GRCh38]
Chr11:2593279 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 |
copy number gain |
See cases [RCV000050947] |
Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 |
copy number gain |
See cases [RCV000050927] |
Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:2521466-2891378)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051694]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051694]|See cases [RCV000051694] |
Chr11:2521466..2891378 [GRCh38]
Chr11:2542696..2912608 [GRCh37]
Chr11:2499272..2869184 [NCBI36]
Chr11:11p15.5-15.4 |
uncertain significance |
| GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 |
copy number gain |
See cases [RCV000053614] |
Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] |
Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.2(KCNQ1):c.1137G>A (p.Trp379Ter) |
single nucleotide variant |
Malignant melanoma [RCV000069306] |
Chr11:2587578 [GRCh38]
Chr11:2608808 [GRCh37]
Chr11:2565384 [NCBI36]
Chr11:11p15.5 |
not provided |
| NM_000218.2(KCNQ1):c.1288G>A (p.Gly430Arg) |
single nucleotide variant |
Malignant melanoma [RCV000069307] |
Chr11:2588749 [GRCh38]
Chr11:2609979 [GRCh37]
Chr11:2566555 [NCBI36]
Chr11:11p15.5 |
not provided |
| NM_000218.3(KCNQ1):c.925A>T (p.Thr309Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000059355] |
Chr11:2583438 [GRCh38]
Chr11:2604668 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1003T>C (p.Phe335Leu) |
single nucleotide variant |
not provided [RCV000057522] |
Chr11:2583516 [GRCh38]
Chr11:2604746 [GRCh37]
Chr11:11p15.5 |
benign|not provided |
| NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057524]|Long QT syndrome 1 [RCV000755757]|Long QT syndrome [RCV000703853] |
Chr11:2583529 [GRCh38]
Chr11:2604759 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057527]|Long QT syndrome 1 [RCV003333023]|Long QT syndrome [RCV002513746]|not provided [RCV000182145] |
Chr11:2583535 [GRCh38]
Chr11:2604765 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1028C>T (p.Pro343Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057532] |
Chr11:2583541 [GRCh38]
Chr11:2604771 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617913]|Congenital long QT syndrome [RCV000057533]|Long QT syndrome [RCV001212181]|not specified [RCV000223742] |
Chr11:2583544 [GRCh38]
Chr11:2604774 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1048G>A (p.Gly350Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057539] |
Chr11:2585227 [GRCh38]
Chr11:2606457 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1061A>G (p.Lys354Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057543] |
Chr11:2585240 [GRCh38]
Chr11:2606470 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1078A>G (p.Arg360Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057545] |
Chr11:2585257 [GRCh38]
Chr11:2606487 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1079G>T (p.Arg360Met) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057547] |
Chr11:2585258 [GRCh38]
Chr11:2606488 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1093A>C (p.Asn365His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057550] |
Chr11:2585272 [GRCh38]
Chr11:2606502 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1117T>C (p.Ser373Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057557] |
Chr11:2585296 [GRCh38]
Chr11:2606526 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg) |
single nucleotide variant |
Long QT syndrome [RCV000462343]|SUDDEN INFANT DEATH SYNDROME [RCV000057559]|not provided [RCV000505766] |
Chr11:2587576 [GRCh38]
Chr11:2608806 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1135T>G (p.Trp379Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057560]|not provided [RCV001753473] |
Chr11:2587576 [GRCh38]
Chr11:2608806 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1136G>C (p.Trp379Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057561] |
Chr11:2587577 [GRCh38]
Chr11:2608807 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1138A>G (p.Arg380Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321555]|Congenital long QT syndrome [RCV000057562] |
Chr11:2587579 [GRCh38]
Chr11:2608809 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1153G>A (p.Glu385Lys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057564]|Long QT syndrome [RCV001223785]|not provided [RCV002054903] |
Chr11:2587594 [GRCh38]
Chr11:2608824 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1165T>C (p.Ser389Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057565] |
Chr11:2587606 [GRCh38]
Chr11:2608836 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057568]|not provided [RCV001701653] |
Chr11:2587615 [GRCh38]
Chr11:2608845 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000305127]|Cardiac arrhythmia [RCV001841659]|Cardiomyopathy [RCV000852645]|Cardiovascular phenotype [RCV002336208]|Congenital long QT syndrome [RCV000394039]|Jervell and Lange-Nielsen syndrome 1 [RCV000306809]|Long QT syndrome 1 [RCV001094051]|Long QT syndrome [RCV000148543]|Short QT syndrome type 2 [RCV000394030]|not provided [RCV000057570]|not specified [RCV000154657] |
Chr11:2587620 [GRCh38]
Chr11:2608850 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483091]|Cardiac arrhythmia [RCV001841660]|Cardiovascular phenotype [RCV003298104]|Congenital long QT syndrome [RCV000057572]|Long QT syndrome [RCV000631637] |
Chr11:2587634 [GRCh38]
Chr11:2608864 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1265A>C (p.Lys422Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057574] |
Chr11:2588726 [GRCh38]
Chr11:2609956 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1283A>G (p.Asp428Gly) |
single nucleotide variant |
not provided [RCV000057575] |
Chr11:2588744 [GRCh38]
Chr11:2609974 [GRCh37]
Chr11:11p15.5 |
benign|not provided |
| NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591655]|Long QT syndrome [RCV000459617]|not provided [RCV000057576]|not specified [RCV000182183] |
Chr11:2588782 [GRCh38]
Chr11:2610012 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841661]|Congenital long QT syndrome [RCV000057577]|Long QT syndrome [RCV001500920] |
Chr11:2588799 [GRCh38]
Chr11:2610029 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001102906]|Cardiac arrhythmia [RCV001841662]|Cardiovascular phenotype [RCV000252693]|Jervell and Lange-Nielsen syndrome 1 [RCV001102907]|Long QT syndrome 1 [RCV001093977]|Long QT syndrome [RCV000171758]|Short QT syndrome type 2 [RCV001102908]|not provided [RCV000057578]|not specified [RCV000155365] |
Chr11:2588804 [GRCh38]
Chr11:2610034 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104827]|Cardiac arrhythmia [RCV001841663]|Congenital long QT syndrome [RCV000057579]|Jervell and Lange-Nielsen syndrome 1 [RCV001104825]|Long QT syndrome 1 [RCV001104826]|Long QT syndrome [RCV001226314]|Short QT syndrome type 2 [RCV001104824]|not provided [RCV000586616]|not specified [RCV000182185] |
Chr11:2588804 [GRCh38]
Chr11:2610034 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002490642]|Cardiac arrhythmia [RCV001841664]|Cardiovascular phenotype [RCV003298105]|Congenital long QT syndrome [RCV000057580]|Long QT syndrome [RCV001226262]|not provided [RCV000182186] |
Chr11:2588812 [GRCh38]
Chr11:2610042 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104829]|Cardiac arrhythmia [RCV001841665]|Cardiovascular phenotype [RCV002381370]|Jervell and Lange-Nielsen syndrome 1 [RCV001104830]|Long QT syndrome 1 [RCV001104828]|Long QT syndrome [RCV000148550]|Short QT syndrome type 2 [RCV001104620]|not provided [RCV000057581] |
Chr11:2588813 [GRCh38]
Chr11:2610043 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000764975]|Atrial fibrillation, familial, 3 [RCV003448257]|Cardiac arrhythmia [RCV001841666]|Cardiovascular phenotype [RCV000246256]|Congenital long QT syndrome [RCV000284895]|Familial atrial fibrillation [RCV000337547]|Jervell and Lange-Nielsen syndrome [RCV000355198]|Long QT syndrome [RCV000297971]|Short QT syndrome [RCV000398200]|not provided [RCV000057583]|not specified [RCV001255594] |
Chr11:2588816 [GRCh38]
Chr11:2610046 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|benign|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841667]|Cardiovascular phenotype [RCV003162435]|Long QT syndrome [RCV000792419]|SUDDEN INFANT DEATH SYNDROME [RCV000148556]|not provided [RCV000057586] |
Chr11:2588839 [GRCh38]
Chr11:2610069 [GRCh37]
Chr11:11p15.5 |
uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1430C>T (p.Pro477Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057587]|Long QT syndrome [RCV000823868] |
Chr11:2661997 [GRCh38]
Chr11:2683227 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1451G>C (p.Ser484Thr) |
single nucleotide variant |
not provided [RCV000057588] |
Chr11:2662018 [GRCh38]
Chr11:2683248 [GRCh37]
Chr11:11p15.5 |
benign|not provided |
| NM_000218.3(KCNQ1):c.1531C>T (p.Arg511Trp) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591656]|Congenital long QT syndrome [RCV000057589]|Long QT syndrome [RCV001209857]|not provided [RCV001507786] |
Chr11:2768860 [GRCh38]
Chr11:2790090 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1550T>C (p.Ile517Thr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057591] |
Chr11:2768879 [GRCh38]
Chr11:2790109 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483092]|Cardiac arrhythmia [RCV001841668]|Cardiovascular phenotype [RCV003162436]|Congenital long QT syndrome [RCV000057593]|Long QT syndrome [RCV000148557]|not provided [RCV000505803]|not specified [RCV001824592] |
Chr11:2768882 [GRCh38]
Chr11:2790112 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000763729]|Cardiac arrhythmia [RCV001841669]|Cardiovascular phenotype [RCV000622251]|Congenital long QT syndrome [RCV000057595]|Long QT syndrome [RCV002514284]|not specified [RCV000454758] |
Chr11:2768884 [GRCh38]
Chr11:2790114 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001106072]|Cardiac arrhythmia [RCV001841670]|Jervell and Lange-Nielsen syndrome 1 [RCV001104917]|KCNQ1-related condition [RCV003390759]|Long QT syndrome 1 [RCV000988473]|Long QT syndrome [RCV000543065]|Short QT syndrome type 2 [RCV001104916]|not provided [RCV000057596] |
Chr11:2768885 [GRCh38]
Chr11:2790115 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399418]|Congenital long QT syndrome [RCV000057598]|not provided [RCV000182200] |
Chr11:2768894 [GRCh38]
Chr11:2790124 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057601]|Long QT syndrome 1 [RCV003319316]|Long QT syndrome [RCV001854180] |
Chr11:2768903 [GRCh38]
Chr11:2790133 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841671]|Cardiovascular phenotype [RCV003162437]|Congenital long QT syndrome [RCV000057603]|Long QT syndrome 1 [RCV000234802]|Long QT syndrome [RCV000456908]|not provided [RCV002223181] |
Chr11:2775966 [GRCh38]
Chr11:2797196 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841672]|Cardiovascular phenotype [RCV000619224]|Congenital long QT syndrome [RCV000057605]|Long QT syndrome 1 [RCV000584804]|Long QT syndrome [RCV000556413]|not provided [RCV000182207] |
Chr11:2775985 [GRCh38]
Chr11:2797215 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841673]|Cardiovascular phenotype [RCV003298106]|Congenital long QT syndrome [RCV000057606]|Long QT syndrome 1 [RCV001089522]|Long QT syndrome [RCV001040145]|Wolff-Parkinson-White pattern [RCV000656140]|not provided [RCV000767088]|not specified [RCV000182208] |
Chr11:2775990 [GRCh38]
Chr11:2797220 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records|not provided |
| NM_000218.3(KCNQ1):c.1627G>A (p.Glu543Lys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057607] |
Chr11:2775996 [GRCh38]
Chr11:2797226 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1640A>G (p.Gln547Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841674]|Congenital long QT syndrome [RCV000057609]|Long QT syndrome [RCV001854181] |
Chr11:2776009 [GRCh38]
Chr11:2797239 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591657]|Congenital long QT syndrome [RCV000057612]|Long QT syndrome [RCV001226497]|not provided [RCV000479287] |
Chr11:2776032 [GRCh38]
Chr11:2797262 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249066]|Congenital long QT syndrome [RCV000057615]|Long QT syndrome [RCV001380059]|not provided [RCV000489493] |
Chr11:2776038 [GRCh38]
Chr11:2797268 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057616]|Long QT syndrome [RCV002513747] |
Chr11:2776054 [GRCh38]
Chr11:2797284 [GRCh37]
Chr11:11p15.5 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1696T>C (p.Ser566Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057617] |
Chr11:2776996 [GRCh38]
Chr11:2798226 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1705A>G (p.Lys569Glu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057624] |
Chr11:2777005 [GRCh38]
Chr11:2798235 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.170G>T (p.Gly57Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057625] |
Chr11:2445268 [GRCh38]
Chr11:2466498 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1712C>T (p.Ser571Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057626]|Long QT syndrome [RCV001320481] |
Chr11:2777012 [GRCh38]
Chr11:2798242 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841675]|Cardiovascular phenotype [RCV003298107]|Congenital long QT syndrome [RCV000057629]|Long QT syndrome 1 [RCV002054904]|Long QT syndrome [RCV000557272]|not provided [RCV000182220] |
Chr11:2777991 [GRCh38]
Chr11:2799221 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002490643]|Cardiac arrhythmia [RCV001841676]|Long QT syndrome [RCV001303652]|SUDDEN INFANT DEATH SYNDROME [RCV000057630] |
Chr11:2777993 [GRCh38]
Chr11:2799223 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1786G>A (p.Glu596Lys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057639]|Long QT syndrome [RCV001366809] |
Chr11:2778029 [GRCh38]
Chr11:2799259 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1793A>G (p.Lys598Arg) |
single nucleotide variant |
SUDDEN INFANT DEATH SYNDROME [RCV000057640]|not provided [RCV003237434] |
Chr11:2778036 [GRCh38]
Chr11:2799266 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841677]|Cardiovascular phenotype [RCV000242195]|Congenital long QT syndrome [RCV000057641]|KCNQ1-related condition [RCV003952480]|Long QT syndrome [RCV000148552]|not provided [RCV000859076] |
Chr11:2847771 [GRCh38]
Chr11:2869001 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1805T>C (p.Leu602Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057642] |
Chr11:2847777 [GRCh38]
Chr11:2869007 [GRCh37]
Chr11:11p15.4 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841678]|Congenital long QT syndrome [RCV000057643]|Long QT syndrome 1 [RCV000755676]|Long QT syndrome [RCV000148559]|not provided [RCV000182235]|not specified [RCV000825351] |
Chr11:2847803 [GRCh38]
Chr11:2869033 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057644]|Long QT syndrome [RCV002513748] |
Chr11:2847803 [GRCh38]
Chr11:2869033 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000763730]|Cardiac arrhythmia [RCV001841679]|Cardiovascular phenotype [RCV003372614]|Long QT syndrome [RCV000471820]|not provided [RCV000057646]|not specified [RCV000484989] |
Chr11:2847833 [GRCh38]
Chr11:2869063 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108389]|Atrial fibrillation, familial, 3 [RCV002498333]|Cardiac arrhythmia [RCV001841680]|Congenital long QT syndrome [RCV000057649]|Jervell and Lange-Nielsen syndrome 1 [RCV001108388]|Long QT syndrome 1 [RCV001108386]|Long QT syndrome [RCV001238350]|Short QT syndrome type 2 [RCV001108387]|not provided [RCV000767093]|not specified [RCV000182236] |
Chr11:2847875 [GRCh38]
Chr11:2869105 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.197C>T (p.Ser66Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057652]|Long QT syndrome [RCV001231381] |
Chr11:2445295 [GRCh38]
Chr11:2466525 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057654] |
Chr11:2445099 [GRCh38]
Chr11:2466329 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.314A>T (p.His105Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057657] |
Chr11:2445412 [GRCh38]
Chr11:2466642 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.356G>A (p.Gly119Asp) |
single nucleotide variant |
not provided [RCV000057663] |
Chr11:2445454 [GRCh38]
Chr11:2466684 [GRCh37]
Chr11:11p15.5 |
benign|not provided |
| NM_000218.3(KCNQ1):c.381C>A (p.Phe127Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057665] |
Chr11:2445479 [GRCh38]
Chr11:2466709 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.385G>A (p.Val129Ile) |
single nucleotide variant |
Long QT syndrome [RCV001854182]|not provided [RCV000057666] |
Chr11:2445483 [GRCh38]
Chr11:2466713 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483093]|Congenital long QT syndrome [RCV000057668]|Long QT syndrome [RCV001367952] |
Chr11:2527938 [GRCh38]
Chr11:2549168 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057669]|Long QT syndrome [RCV001067053]|not provided [RCV000182326] |
Chr11:2527942 [GRCh38]
Chr11:2549172 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.40C>T (p.Arg14Cys) |
single nucleotide variant |
not provided [RCV000057672] |
Chr11:2445138 [GRCh38]
Chr11:2466368 [GRCh37]
Chr11:11p15.5 |
uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) |
single nucleotide variant |
Atrial fibrillation [RCV000057674]|Cardiovascular phenotype [RCV000621525]|Long QT syndrome [RCV000468931]|Short QT syndrome type 2 [RCV000417071]|not provided [RCV000494365] |
Chr11:2527962 [GRCh38]
Chr11:2549192 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618499]|Congenital long QT syndrome [RCV000057675]|Long QT syndrome [RCV000463475]|not provided [RCV000489920] |
Chr11:2527971 [GRCh38]
Chr11:2549201 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.440A>G (p.Gln147Arg) |
single nucleotide variant |
Atrial fibrillation [RCV000057677] |
Chr11:2527981 [GRCh38]
Chr11:2549211 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841681]|Cardiovascular phenotype [RCV000618215]|Hypertrophic cardiomyopathy [RCV000852644]|Long QT syndrome [RCV000148549]|not provided [RCV000057679]|not specified [RCV000433518] |
Chr11:2527999 [GRCh38]
Chr11:2549229 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.479A>T (p.Glu160Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057682] |
Chr11:2570629 [GRCh38]
Chr11:2591859 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841682]|Cardiovascular phenotype [RCV003372615]|Congenital long QT syndrome [RCV000057683]|Long QT syndrome [RCV000468709]|not provided [RCV000767079]|not specified [RCV000223780] |
Chr11:2570634 [GRCh38]
Chr11:2591864 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000764971]|Atrial fibrillation, familial, 3 [RCV001107938]|Cardiac arrhythmia [RCV001841683]|Cardiovascular phenotype [RCV000620765]|Congenital long QT syndrome [RCV000057687]|Jervell and Lange-Nielsen syndrome 1 [RCV001107937]|Long QT syndrome 1 [RCV001102704]|Long QT syndrome [RCV000812759]|Short QT syndrome type 2 [RCV001106436]|not provided [RCV000414067]|not specified [RCV001731350] |
Chr11:2570664 [GRCh38]
Chr11:2591894 [GRCh37]
Chr11:11p15.5 |
pathogenic|benign|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841684]|Cardiovascular phenotype [RCV002345366]|Long QT syndrome [RCV002513749]|not provided [RCV000057695] |
Chr11:2570691 [GRCh38]
Chr11:2591921 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.548A>G (p.Lys183Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057696] |
Chr11:2570698 [GRCh38]
Chr11:2591928 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057697]|Long QT syndrome [RCV001349041]|not provided [RCV000182297] |
Chr11:2570700 [GRCh38]
Chr11:2591930 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057699]|Long QT syndrome 1 [RCV000779057] |
Chr11:2570706 [GRCh38]
Chr11:2591936 [GRCh37]
Chr11:11p15.5 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.565G>C (p.Gly189Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057703] |
Chr11:2570715 [GRCh38]
Chr11:2591945 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841685]|Cardiovascular phenotype [RCV002345367]|Congenital long QT syndrome [RCV000057707]|Long QT syndrome 1 [RCV000678947]|Long QT syndrome [RCV000698459]|not provided [RCV000182299] |
Chr11:2570719 [GRCh38]
Chr11:2591949 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841686]|Cardiovascular phenotype [RCV003162438]|Congenital long QT syndrome [RCV000057709]|Long QT syndrome 1 [RCV001253678]|Long QT syndrome [RCV000530014]|not provided [RCV000182300] |
Chr11:2570725 [GRCh38]
Chr11:2591955 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.579T>A (p.Phe193Leu) |
single nucleotide variant |
not provided [RCV000057711] |
Chr11:2570729 [GRCh38]
Chr11:2591959 [GRCh37]
Chr11:11p15.5 |
likely benign|not provided |
| NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483094]|Cardiac arrhythmia [RCV001841687]|Cardiovascular phenotype [RCV003162439]|Congenital long QT syndrome [RCV000057713]|Long QT syndrome [RCV000148554] |
Chr11:2570733 [GRCh38]
Chr11:2591963 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841688]|Cardiovascular phenotype [RCV000618352]|KCNQ1-Related Disorders [RCV003335087]|KCNQ1-related condition [RCV003407441]|Long QT syndrome [RCV000231075]|not provided [RCV000057714]|not specified [RCV001193175] |
Chr11:2570734 [GRCh38]
Chr11:2591964 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.592A>G (p.Ile198Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057715]|Long QT syndrome [RCV002513750]|not provided [RCV000478676] |
Chr11:2570742 [GRCh38]
Chr11:2591972 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057716]|Long QT syndrome 1 [RCV003227632] |
Chr11:2570745 [GRCh38]
Chr11:2591975 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057717]|not provided [RCV000182240] |
Chr11:2445103 [GRCh38]
Chr11:2466333 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.604G>C (p.Asp202His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057719] |
Chr11:2570754 [GRCh38]
Chr11:2591984 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057720]|Long QT syndrome 1 [RCV003330079] |
Chr11:2571328 [GRCh38]
Chr11:2592558 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro) |
single nucleotide variant |
Atrial fibrillation [RCV000057725]|Atrial fibrillation, familial, 3 [RCV000115006]|Long QT syndrome [RCV000232681] |
Chr11:2571345 [GRCh38]
Chr11:2592575 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.652A>G (p.Lys218Glu) |
single nucleotide variant |
Long QT syndrome [RCV001854183]|Torsades de pointes [RCV000057728]|not provided [RCV000182096] |
Chr11:2571372 [GRCh38]
Chr11:2592602 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841689]|Congenital long QT syndrome [RCV000057729]|Inborn genetic diseases [RCV003242975]|Long QT syndrome [RCV000754820]|not provided [RCV001843472] |
Chr11:2571391 [GRCh38]
Chr11:2592621 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362691]|Congenital long QT syndrome [RCV000057731]|Long QT syndrome [RCV000821599]|not provided [RCV000521709] |
Chr11:2571397 [GRCh38]
Chr11:2592627 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.722T>G (p.Val241Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057737] |
Chr11:2572051 [GRCh38]
Chr11:2593281 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057739]|Long QT syndrome [RCV000476524]|not provided [RCV000182104] |
Chr11:2572053 [GRCh38]
Chr11:2593283 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057740]|Long QT syndrome [RCV000631706] |
Chr11:2572056 [GRCh38]
Chr11:2593286 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057744]|Long QT syndrome [RCV000631660]|not provided [RCV000182105] |
Chr11:2572071 [GRCh38]
Chr11:2593301 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.744G>C (p.Trp248Cys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057745] |
Chr11:2572073 [GRCh38]
Chr11:2593303 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.749T>C (p.Leu250Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057747]|Long QT syndrome [RCV001038670] |
Chr11:2572078 [GRCh38]
Chr11:2593308 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.760G>C (p.Val254Leu) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057750] |
Chr11:2572089 [GRCh38]
Chr11:2593319 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.773A>C (p.His258Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057753]|Long QT syndrome [RCV001854184]|not provided [RCV001545914] |
Chr11:2572102 [GRCh38]
Chr11:2593332 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.781G>C (p.Glu261Gln) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057759]|not provided [RCV000493609] |
Chr11:2572846 [GRCh38]
Chr11:2594076 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.803T>G (p.Ile268Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057764]|Long QT syndrome [RCV000466406]|not provided [RCV000182117] |
Chr11:2572868 [GRCh38]
Chr11:2594098 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.815G>T (p.Gly272Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057768] |
Chr11:2572880 [GRCh38]
Chr11:2594110 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108025]|Cardiac arrhythmia [RCV001841690]|Cardiovascular phenotype [RCV002426616]|Congenital long QT syndrome [RCV000057771]|Jervell and Lange-Nielsen syndrome 1 [RCV001108026]|Long QT syndrome 1 [RCV001102797]|Long QT syndrome [RCV001080930]|SUDDEN INFANT DEATH SYNDROME [RCV000148546]|Short QT syndrome type 2 [RCV001108024]|not provided [RCV000182121]|not specified [RCV000219577] |
Chr11:2572885 [GRCh38]
Chr11:2594115 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.829T>C (p.Ser277Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057773] |
Chr11:2572894 [GRCh38]
Chr11:2594124 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.832T>C (p.Tyr278His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057776] |
Chr11:2572897 [GRCh38]
Chr11:2594127 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.842A>G (p.Tyr281Cys) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057778] |
Chr11:2572907 [GRCh38]
Chr11:2594137 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057779]|Long QT syndrome [RCV001854185] |
Chr11:2572910 [GRCh38]
Chr11:2594140 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057780]|Long QT syndrome [RCV003531950]|not provided [RCV000520786] |
Chr11:2572913 [GRCh38]
Chr11:2594143 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444516]|Congenital long QT syndrome [RCV000057781]|Long QT syndrome [RCV000204994]|not provided [RCV000182125] |
Chr11:2572915 [GRCh38]
Chr11:2594145 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841691]|Cardiovascular phenotype [RCV000621972]|Congenital long QT syndrome [RCV000057784]|Long QT syndrome [RCV000524952]|not provided [RCV000182126] |
Chr11:2572940 [GRCh38]
Chr11:2594170 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001331076]|Cardiac arrhythmia [RCV001841692]|Cardiovascular phenotype [RCV000621242]|Congenital long QT syndrome [RCV000057785]|Long QT syndrome 1 [RCV000678913]|Long QT syndrome [RCV000148555]|not provided [RCV000182127] |
Chr11:2572942 [GRCh38]
Chr11:2594172 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841693]|Long QT syndrome 1 [RCV001258359]|Long QT syndrome [RCV002513751]|not provided [RCV000057786]|not specified [RCV000182309] |
Chr11:2572943 [GRCh38]
Chr11:2594173 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057787]|Long QT syndrome [RCV001044347] |
Chr11:2572952 [GRCh38]
Chr11:2594182 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) |
single nucleotide variant |
Long QT syndrome [RCV001212801]|not provided [RCV000057788]|not specified [RCV001251371] |
Chr11:2572954 [GRCh38]
Chr11:2594184 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371901]|Congenital long QT syndrome [RCV000057791]|Long QT syndrome [RCV000689954]|not provided [RCV000182129] |
Chr11:2572970 [GRCh38]
Chr11:2594200 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057793]|Long QT syndrome [RCV002513752] |
Chr11:2572973 [GRCh38]
Chr11:2594203 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057798]|Long QT syndrome 1 [RCV003159095]|not provided [RCV003317071] |
Chr11:2572981 [GRCh38]
Chr11:2594211 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.929T>A (p.Val310Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057805] |
Chr11:2583442 [GRCh38]
Chr11:2604672 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.931A>G (p.Thr311Ala) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057806] |
Chr11:2583444 [GRCh38]
Chr11:2604674 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.941G>C (p.Gly314Ala) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057814] |
Chr11:2583454 [GRCh38]
Chr11:2604684 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.947G>T (p.Gly316Val) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057821] |
Chr11:2583460 [GRCh38]
Chr11:2604690 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.949G>T (p.Asp317Tyr) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057823] |
Chr11:2583462 [GRCh38]
Chr11:2604692 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly) |
single nucleotide variant |
Congenital long QT syndrome [RCV000057824]|Long QT syndrome [RCV001206137]|not provided [RCV001507785] |
Chr11:2583463 [GRCh38]
Chr11:2604693 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|not provided |
| NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381371]|Congenital long QT syndrome [RCV000057827]|Long QT syndrome 1 [RCV002468561]|Long QT syndrome [RCV000466144]|not provided [RCV000182143]|not specified [RCV000223841] |
Chr11:2583471 [GRCh38]
Chr11:2604701 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000218.2(KCNQ1):c.386+6891G>C |
single nucleotide variant |
Lung cancer [RCV000109956] |
Chr11:2452375 [GRCh38]
Chr11:2473605 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.2(KCNQ1):c.1515-49924G>T |
single nucleotide variant |
Lung cancer [RCV000109969] |
Chr11:2718920 [GRCh38]
Chr11:2740150 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| KCNQ1:c.625T>C (p.Ser209Pro) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000115006] |
Chr11:2571345 [GRCh38]
Chr11:2592575 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| KCNQ1:c.692G>A (p.Arg231His) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000115007]|Long QT syndrome 1 [RCV000115008] |
Chr11:2572021 [GRCh38]
Chr11:2593251 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| KCNQ1:c.686G>A (p.Gly229Asp) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000115009] |
Chr11:2572015 [GRCh38]
Chr11:2593245 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.2(KCNQ1):c.1071G>Y (p.Gln357His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000119061] |
Chr11:2585250 [GRCh38]
Chr11:2606480 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1251+1G>A |
single nucleotide variant |
Long QT syndrome 1 [RCV001003476]|Long QT syndrome [RCV002549213] |
Chr11:2587693 [GRCh38]
Chr11:2608923 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.683+20T>C |
single nucleotide variant |
Long QT syndrome [RCV002055643]|not specified [RCV000126431] |
Chr11:2571423 [GRCh38]
Chr11:2592653 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.2(KCNQ1):c.781-19T>G |
single nucleotide variant |
not provided [RCV000126432] |
Chr11:2572827 [GRCh38]
Chr11:2594057 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108021]|Cardiac arrhythmia [RCV001842425]|Cardiovascular phenotype [RCV000619503]|Jervell and Lange-Nielsen syndrome 1 [RCV001108022]|Long QT syndrome 1 [RCV001108023]|Long QT syndrome [RCV001083007]|Short QT syndrome type 2 [RCV001108020]|not provided [RCV000227652]|not specified [RCV000150868] |
Chr11:2572876 [GRCh38]
Chr11:2594106 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1128+4C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV003591687]|Cardiovascular phenotype [RCV003162568]|Long QT syndrome [RCV000541478]|not specified [RCV000126434] |
Chr11:2585311 [GRCh38]
Chr11:2606541 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.386+16216G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003915261]|not provided [RCV000712131]|not specified [RCV000126435] |
Chr11:2461700 [GRCh38]
Chr11:2482930 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1394-8C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000387984]|Cardiac arrhythmia [RCV001842426]|Congenital long QT syndrome [RCV000295959]|Jervell and Lange-Nielsen syndrome 1 [RCV000348591]|Long QT syndrome 1 [RCV001094054]|Long QT syndrome [RCV000317191]|Short QT syndrome type 2 [RCV000387233]|not provided [RCV000588614]|not specified [RCV000155134] |
Chr11:2661953 [GRCh38]
Chr11:2683183 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002492474]|Cardiac arrhythmia [RCV001842427]|Cardiovascular phenotype [RCV000621444]|Congenital long QT syndrome [RCV000271382]|Familial atrial fibrillation [RCV000325299]|Jervell and Lange-Nielsen syndrome [RCV000369840]|Long QT syndrome [RCV000365855]|Short QT syndrome [RCV000270219]|not specified [RCV000126439] |
Chr11:2777992 [GRCh38]
Chr11:2799222 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1794+11G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000286804]|Congenital long QT syndrome [RCV000321900]|Jervell and Lange-Nielsen syndrome 1 [RCV000372585]|Long QT syndrome 1 [RCV000376494]|Long QT syndrome [RCV002055644]|Short QT syndrome type 2 [RCV000323117]|not specified [RCV000150872] |
Chr11:2778048 [GRCh38]
Chr11:2799278 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1860C>T (p.His620=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842428]|Cardiovascular phenotype [RCV000245982]|KCNQ1-related condition [RCV003945126]|Long QT syndrome [RCV001085293]|not provided [RCV000200765]|not specified [RCV000126441] |
Chr11:2847832 [GRCh38]
Chr11:2869062 [GRCh37]
Chr11:11p15.4 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001105133]|Cardiac arrhythmia [RCV001842429]|Jervell and Lange-Nielsen syndrome 1 [RCV001103215]|Long QT syndrome 1 [RCV001103216]|Long QT syndrome [RCV000631840]|Short QT syndrome type 2 [RCV001105132]|not specified [RCV000126442] |
Chr11:2847916 [GRCh38]
Chr11:2869146 [GRCh37]
Chr11:11p15.4 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.-5T>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000310463]|Cardiovascular phenotype [RCV000242002]|Congenital long QT syndrome [RCV000364999]|Jervell and Lange-Nielsen syndrome 1 [RCV000307327]|Long QT syndrome 1 [RCV000389967]|Short QT syndrome type 2 [RCV000270523]|not provided [RCV000725213]|not specified [RCV000155746] |
Chr11:2445094 [GRCh38]
Chr11:2466324 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000290023]|Cardiovascular phenotype [RCV000622218]|Jervell and Lange-Nielsen syndrome 1 [RCV000293391]|Long QT syndrome 1 [RCV001094038]|Long QT syndrome [RCV000196837]|Short QT syndrome type 2 [RCV000345037]|not provided [RCV001723693]|not specified [RCV000150861] |
Chr11:2445305 [GRCh38]
Chr11:2466535 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842430]|Cardiovascular phenotype [RCV000243561]|Long QT syndrome [RCV000232615]|not specified [RCV000150864] |
Chr11:2527988 [GRCh38]
Chr11:2549218 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000291516]|Cardiac arrhythmia [RCV001842431]|Cardiovascular phenotype [RCV000617278]|Congenital long QT syndrome [RCV000382303]|Jervell and Lange-Nielsen syndrome 1 [RCV000327774]|KCNQ1-related condition [RCV003945127]|Long QT syndrome 1 [RCV001094022]|Long QT syndrome [RCV000226452]|Short QT syndrome type 2 [RCV000331279]|not provided [RCV000126447]|not specified [RCV000180989] |
Chr11:2528000 [GRCh38]
Chr11:2549230 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 |
copy number gain |
See cases [RCV001310286] |
Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404826]|Long QT syndrome [RCV001349126] |
Chr11:2778022 [GRCh38]
Chr11:2799252 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002366107]|Long QT syndrome [RCV001871679]|not provided [RCV001565355] |
Chr11:2572027 [GRCh38]
Chr11:2593257 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841213]|Cardiovascular phenotype [RCV002350645]|Long QT syndrome [RCV001348284] |
Chr11:2570703 [GRCh38]
Chr11:2591933 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-6C>T |
single nucleotide variant |
Long QT syndrome [RCV003647752]|not provided [RCV000173988] |
Chr11:2661955 [GRCh38]
Chr11:2683185 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002485097]|Cardiac arrhythmia [RCV001842520]|Cardiovascular phenotype [RCV002354427]|Long QT syndrome [RCV000631621]|not provided [RCV000171669] |
Chr11:2570740 [GRCh38]
Chr11:2591970 [GRCh37]
Chr11:11p15.5 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372070]|Long QT syndrome [RCV001209970]|not provided [RCV000171670] |
Chr11:2572050 [GRCh38]
Chr11:2593280 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.2(KCNQ1):c.572_576delTGCGC (p.Arg192Cysfs) |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV000144973]|Jervell and Lange-Nielsen syndrome [RCV000144973] |
Chr11:2570722..2570726 [GRCh38]
Chr11:2591952..2591956 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 |
copy number gain |
See cases [RCV000136112] |
Chr11:1975511..2888695 [GRCh38]
Chr11:1996741..2909925 [GRCh37]
Chr11:1953317..2866501 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 |
copy number gain |
See cases [RCV000136847] |
Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 |
copy number loss |
See cases [RCV000137066] |
Chr11:1975511..3624139 [GRCh38]
Chr11:1996741..3645369 [GRCh37]
Chr11:1953317..3601945 [NCBI36]
Chr11:11p15.5-15.4 |
uncertain significance |
| GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3 |
copy number gain |
See cases [RCV000137405] |
Chr11:2149352..2467542 [GRCh38]
Chr11:2170582..2488772 [GRCh37]
Chr11:2127158..2445348 [NCBI36]
Chr11:11p15.5 |
uncertain significance |
| GRCh38/hg38 11p15.5(chr11:2601092-2606236)x1 |
copy number loss |
See cases [RCV000140065] |
Chr11:2601092..2606236 [GRCh38]
Chr11:2622322..2627466 [GRCh37]
Chr11:2578898..2584042 [NCBI36]
Chr11:11p15.5 |
likely benign |
| GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 |
copy number gain |
See cases [RCV000139987] |
Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5(chr11:2454516-2461603)x1 |
copy number loss |
See cases [RCV000141341] |
Chr11:2454516..2461603 [GRCh38]
Chr11:2475746..2482833 [GRCh37]
Chr11:2432322..2439409 [NCBI36]
Chr11:11p15.5 |
pathogenic |
| GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 |
copy number loss |
See cases [RCV000142464] |
Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842952]|Cardiovascular phenotype [RCV002415864]|Long QT syndrome 1 [RCV000203189]|Long QT syndrome [RCV003765309] |
Chr11:2847942 [GRCh38]
Chr11:2869172 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 |
copy number gain |
See cases [RCV000142890] |
Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4 |
pathogenic |
| GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 |
copy number gain |
See cases [RCV000143587] |
Chr11:2106943..2565669 [GRCh38]
Chr11:2128173..2586899 [GRCh37]
Chr11:2084749..2543475 [NCBI36]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104726]|Cardiac arrhythmia [RCV001842489]|Cardiovascular phenotype [RCV002372021]|Jervell and Lange-Nielsen syndrome 1 [RCV001104724]|KCNQ1-related condition [RCV003975218]|Long QT syndrome 1 [RCV001104725]|Long QT syndrome [RCV000227118]|Short QT syndrome type 2 [RCV001104723]|not provided [RCV001711425]|not specified [RCV000156082] |
Chr11:2572965 [GRCh38]
Chr11:2594195 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.225T>C (p.Val75=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618148]|KCNQ1-related condition [RCV003945188]|Long QT syndrome [RCV000458474]|not provided [RCV003129790]|not specified [RCV000150862] |
Chr11:2445323 [GRCh38]
Chr11:2466553 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.781-19TG[2] |
microsatellite |
Cardiac arrhythmia [RCV001842462]|Long QT syndrome [RCV002055974]|not specified [RCV000150867] |
Chr11:2572827..2572828 [GRCh38]
Chr11:2594057..2594058 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1032+11C>T |
single nucleotide variant |
Long QT syndrome [RCV002055975]|not provided [RCV001640189]|not specified [RCV000150870] |
Chr11:2583556 [GRCh38]
Chr11:2604786 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-8C>A |
single nucleotide variant |
Long QT syndrome [RCV001231663]|not specified [RCV000150871] |
Chr11:2661953 [GRCh38]
Chr11:2683183 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1795-5C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842463]|KCNQ1-related condition [RCV003895038]|Long QT syndrome [RCV003531972]|not specified [RCV000150873] |
Chr11:2847762 [GRCh38]
Chr11:2868992 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1794+12C>G |
single nucleotide variant |
Long QT syndrome [RCV003531989]|not specified [RCV000156524] |
Chr11:2778049 [GRCh38]
Chr11:2799279 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.948G>C (p.Gly316=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842495]|Long QT syndrome [RCV002053891]|not specified [RCV000156736] |
Chr11:2583461 [GRCh38]
Chr11:2604691 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000262280]|Cardiac arrhythmia [RCV001842460]|Cardiovascular phenotype [RCV000244395]|Jervell and Lange-Nielsen syndrome 1 [RCV000357067]|Long QT syndrome 1 [RCV001093970]|Long QT syndrome [RCV000205669]|Short QT syndrome type 2 [RCV000276186]|not provided [RCV000858384]|not specified [RCV000150863] |
Chr11:2527976 [GRCh38]
Chr11:2549206 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.477+9C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000284036]|Congenital long QT syndrome [RCV000287919]|Jervell and Lange-Nielsen syndrome 1 [RCV000398061]|Long QT syndrome 1 [RCV001094023]|Long QT syndrome [RCV000203907]|Short QT syndrome type 2 [RCV000342464]|not provided [RCV001706002]|not specified [RCV000150865] |
Chr11:2528027 [GRCh38]
Chr11:2549257 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001102711]|Cardiac arrhythmia [RCV001842461]|Cardiovascular phenotype [RCV002345463]|Jervell and Lange-Nielsen syndrome 1 [RCV001102710]|Long QT syndrome 1 [RCV001102709]|Long QT syndrome [RCV000464601]|Short QT syndrome type 2 [RCV001104619]|not provided [RCV001651012]|not specified [RCV000150866] |
Chr11:2570717 [GRCh38]
Chr11:2591947 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001103104]|Cardiac arrhythmia [RCV001842464]|Cardiovascular phenotype [RCV000251316]|Jervell and Lange-Nielsen syndrome 1 [RCV001105014]|Long QT syndrome 1 [RCV001103103]|Long QT syndrome [RCV000205176]|Short QT syndrome type 2 [RCV001105015]|not provided [RCV001675635]|not specified [RCV000150874] |
Chr11:2847772 [GRCh38]
Chr11:2869002 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.386+16242G>A |
single nucleotide variant |
not provided [RCV001618310]|not specified [RCV000155131] |
Chr11:2461726 [GRCh38]
Chr11:2482956 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000323618]|Cardiac arrhythmia [RCV001842485]|Cardiovascular phenotype [RCV000247674]|Jervell and Lange-Nielsen syndrome 1 [RCV000268526]|KCNQ1-related condition [RCV003937452]|Long QT syndrome 1 [RCV001094042]|Long QT syndrome [RCV000326765]|Short QT syndrome type 2 [RCV000378309]|not provided [RCV000590559]|not specified [RCV000155132] |
Chr11:2570663 [GRCh38]
Chr11:2591893 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.604+12C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002498748]|Long QT syndrome [RCV002056072]|not specified [RCV000155133] |
Chr11:2570766 [GRCh38]
Chr11:2591996 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.347G>A (p.Arg116His) |
single nucleotide variant |
not specified [RCV000155645] |
Chr11:2445445 [GRCh38]
Chr11:2466675 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591726]|Cardiovascular phenotype [RCV000617940]|Long QT syndrome 1 [RCV000477871]|Long QT syndrome [RCV000814153] |
Chr11:2570663 [GRCh38]
Chr11:2591893 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.428C>T (p.Ser143Phe) |
single nucleotide variant |
Long QT syndrome [RCV000167978] |
Chr11:2527969 [GRCh38]
Chr11:2549199 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.826del (p.Ser276fs) |
deletion |
Congenital long QT syndrome [RCV000169662] |
Chr11:2572891 [GRCh38]
Chr11:2594121 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter) |
single nucleotide variant |
not provided [RCV000579254] |
Chr11:2445473 [GRCh38]
Chr11:2466703 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1033-3C>T |
single nucleotide variant |
not specified [RCV000182070] |
Chr11:2585209 [GRCh38]
Chr11:2606439 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000352173]|Atrial fibrillation, familial, 3 [RCV002492807]|Cardiac arrhythmia [RCV001842866]|Cardiovascular phenotype [RCV002426876]|Jervell and Lange-Nielsen syndrome 1 [RCV000385740]|Long QT syndrome 1 [RCV001093991]|Long QT syndrome [RCV000228840]|Short QT syndrome type 2 [RCV000293658]|not specified [RCV000182071] |
Chr11:2585289 [GRCh38]
Chr11:2606519 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001103008]|Cardiac arrhythmia [RCV001842867]|Cardiovascular phenotype [RCV000618365]|Jervell and Lange-Nielsen syndrome 1 [RCV001103009]|Long QT syndrome 1 [RCV001103010]|Long QT syndrome [RCV000472516]|Short QT syndrome type 2 [RCV001103011]|not provided [RCV001701547]|not specified [RCV000182073] |
Chr11:2662043 [GRCh38]
Chr11:2683273 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV003227700]|Cardiac arrhythmia [RCV001842868]|Cardiovascular phenotype [RCV002399648]|Long QT syndrome 1 [RCV000988474]|Long QT syndrome [RCV001048069]|not provided [RCV000767090]|not specified [RCV000182074] |
Chr11:2777026 [GRCh38]
Chr11:2798256 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) |
single nucleotide variant |
Long QT syndrome 1 [RCV003319329]|Long QT syndrome [RCV001852299]|not provided [RCV000182080] |
Chr11:2570671 [GRCh38]
Chr11:2591901 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp) |
single nucleotide variant |
not provided [RCV000182083] |
Chr11:2570700 [GRCh38]
Chr11:2591930 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.587A>C (p.Lys196Thr) |
single nucleotide variant |
Long QT syndrome [RCV001852300]|not provided [RCV000182088] |
Chr11:2570737 [GRCh38]
Chr11:2591967 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.589C>T (p.Pro197Ser) |
single nucleotide variant |
not provided [RCV000182089] |
Chr11:2570739 [GRCh38]
Chr11:2591969 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter) |
single nucleotide variant |
Long QT syndrome [RCV001383970]|not specified [RCV000507298] |
Chr11:2571362 [GRCh38]
Chr11:2592592 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.679A>C (p.Ile227Leu) |
single nucleotide variant |
not provided [RCV000182097] |
Chr11:2571399 [GRCh38]
Chr11:2592629 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) |
single nucleotide variant |
Long QT syndrome 1 [RCV000853596]|Long QT syndrome [RCV001852301]|not provided [RCV000182102] |
Chr11:2572036 [GRCh38]
Chr11:2593266 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) |
single nucleotide variant |
Long QT syndrome [RCV000678810]|not provided [RCV000182107] |
Chr11:2572086 [GRCh38]
Chr11:2593316 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.758C>T (p.Ser253Phe) |
single nucleotide variant |
not provided [RCV000182108] |
Chr11:2572087 [GRCh38]
Chr11:2593317 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408794]|not provided [RCV000182122] |
Chr11:2572892 [GRCh38]
Chr11:2594122 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372111]|Jervell and Lange-Nielsen syndrome 1 [RCV001808461]|Long QT syndrome 1 [RCV000678950]|Long QT syndrome [RCV002515312]|not provided [RCV000182131] |
Chr11:2572979 [GRCh38]
Chr11:2594209 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.922-3C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000620301]|Long QT syndrome [RCV000473556]|not provided [RCV000182135]|not specified [RCV000780365] |
Chr11:2583432 [GRCh38]
Chr11:2604662 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) |
single nucleotide variant |
Long QT syndrome [RCV001852302]|not provided [RCV000182140] |
Chr11:2583459 [GRCh38]
Chr11:2604689 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.953A>C (p.Lys318Thr) |
single nucleotide variant |
not provided [RCV000182141] |
Chr11:2583466 [GRCh38]
Chr11:2604696 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter) |
single nucleotide variant |
Long QT syndrome [RCV001852303]|not provided [RCV000182144] |
Chr11:2583474 [GRCh38]
Chr11:2604704 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.962A>C (p.Gln321Pro) |
single nucleotide variant |
Long QT syndrome [RCV001339199]|not provided [RCV000182146] |
Chr11:2583475 [GRCh38]
Chr11:2604705 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372112]|Long QT syndrome [RCV001852304]|not provided [RCV000182148] |
Chr11:2583478 [GRCh38]
Chr11:2604708 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.974G>A (p.Gly325Glu) |
single nucleotide variant |
not provided [RCV000182151] |
Chr11:2583487 [GRCh38]
Chr11:2604717 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe) |
single nucleotide variant |
Long QT syndrome [RCV001045929]|not provided [RCV000182152] |
Chr11:2583522 [GRCh38]
Chr11:2604752 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1011C>G (p.Ile337Met) |
single nucleotide variant |
not provided [RCV000182153] |
Chr11:2583524 [GRCh38]
Chr11:2604754 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.2(KCNQ1):c.1025T>C (p.Leu342Pro) |
single nucleotide variant |
Cardiac arrhythmia [RCV000182156] |
Chr11:2583538 [GRCh38]
Chr11:2604768 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1033-2A>C |
single nucleotide variant |
Long QT syndrome [RCV003532028]|not provided [RCV000182162] |
Chr11:2585210 [GRCh38]
Chr11:2606440 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1033-2A>G |
single nucleotide variant |
not provided [RCV000182163] |
Chr11:2585210 [GRCh38]
Chr11:2606440 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg) |
single nucleotide variant |
Long QT syndrome [RCV001382717]|not provided [RCV000182164] |
Chr11:2585212 [GRCh38]
Chr11:2606442 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) |
single nucleotide variant |
Long QT syndrome [RCV000845364]|not provided [RCV000182165] |
Chr11:2585228 [GRCh38]
Chr11:2606458 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1078A>T (p.Arg360Trp) |
single nucleotide variant |
not provided [RCV000182170] |
Chr11:2585257 [GRCh38]
Chr11:2606487 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1105C>G (p.Pro369Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV001265670]|not provided [RCV000767085]|not specified [RCV000182174] |
Chr11:2585284 [GRCh38]
Chr11:2606514 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1123A>T (p.Ile375Phe) |
single nucleotide variant |
not provided [RCV000182176] |
Chr11:2585302 [GRCh38]
Chr11:2606532 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1128+5G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000764973]|Cardiac arrhythmia [RCV001842869]|Cardiovascular phenotype [RCV003165390]|Hearing impairment [RCV001375390]|Long QT syndrome [RCV001087240]|not provided [RCV000182177] |
Chr11:2585312 [GRCh38]
Chr11:2606542 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381588]|Long QT syndrome [RCV001068648]|not provided [RCV000182178] |
Chr11:2588844 [GRCh38]
Chr11:2610074 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453655]|Long QT syndrome [RCV002516853]|not provided [RCV000182180] |
Chr11:2587583 [GRCh38]
Chr11:2608813 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1251+2T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001842870]|not provided [RCV000182182] |
Chr11:2587694 [GRCh38]
Chr11:2608924 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002485201]|Cardiac arrhythmia [RCV001842871]|Cardiovascular phenotype [RCV002381589]|Long QT syndrome [RCV001852305]|not provided [RCV000182184] |
Chr11:2588797 [GRCh38]
Chr11:2610027 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1394-1G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842872]|Cardiovascular phenotype [RCV000620890]|Long QT syndrome [RCV000631611]|not provided [RCV000182190] |
Chr11:2661960 [GRCh38]
Chr11:2683190 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1426A>G (p.Met476Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249902]|not provided [RCV000767087]|not specified [RCV000182191] |
Chr11:2661993 [GRCh38]
Chr11:2683223 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842873]|Cardiovascular phenotype [RCV002390457]|Long QT syndrome [RCV000701786]|not provided [RCV000182192] |
Chr11:2662031 [GRCh38]
Chr11:2683261 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) |
single nucleotide variant |
Congenital long QT syndrome [RCV000825591]|not provided [RCV000182193] |
Chr11:2768851 [GRCh38]
Chr11:2790081 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1685+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002399649]|Long QT syndrome 1 [RCV000678937]|Long QT syndrome [RCV000537287]|not provided [RCV000182194] |
Chr11:2776055 [GRCh38]
Chr11:2797285 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn) |
single nucleotide variant |
Long QT syndrome [RCV001852306]|not provided [RCV000182195] |
Chr11:2768874 [GRCh38]
Chr11:2790104 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1660G>A (p.Val554Met) |
single nucleotide variant |
not provided [RCV000182210] |
Chr11:2776029 [GRCh38]
Chr11:2797259 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1682G>A (p.Arg561Lys) |
single nucleotide variant |
not provided [RCV000182213] |
Chr11:2776051 [GRCh38]
Chr11:2797281 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser) |
single nucleotide variant |
Long QT syndrome [RCV002517776]|not provided [RCV000182214] |
Chr11:2776986 [GRCh38]
Chr11:2798216 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) |
single nucleotide variant |
Long QT syndrome 1 [RCV000234786]|Long QT syndrome [RCV002516854]|not provided [RCV000182222] |
Chr11:2778005 [GRCh38]
Chr11:2799235 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) |
single nucleotide variant |
Long QT syndrome 1 [RCV003314573]|Long QT syndrome 1 [RCV003319330]|not provided [RCV000182226] |
Chr11:2778015 [GRCh38]
Chr11:2799245 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399650]|Congenital long QT syndrome [RCV001449795]|Long QT syndrome 1 [RCV000770826]|Long QT syndrome [RCV000815960]|not provided [RCV000182227] |
Chr11:2778023 [GRCh38]
Chr11:2799253 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1787A>G (p.Glu596Gly) |
single nucleotide variant |
not provided [RCV000182229] |
Chr11:2778030 [GRCh38]
Chr11:2799260 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399651]|Long QT syndrome [RCV000805552]|not specified [RCV003235104] |
Chr11:2778037 [GRCh38]
Chr11:2799267 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter) |
single nucleotide variant |
Long QT syndrome [RCV001225064]|not provided [RCV000182232] |
Chr11:2847773 [GRCh38]
Chr11:2869003 [GRCh37]
Chr11:11p15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu) |
single nucleotide variant |
Long QT syndrome [RCV003647759]|not provided [RCV000182233] |
Chr11:2847783 [GRCh38]
Chr11:2869013 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591702]|not provided [RCV000182234] |
Chr11:2847801 [GRCh38]
Chr11:2869031 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842874]|Cardiovascular phenotype [RCV002415772]|Jervell and Lange-Nielsen syndrome 1 [RCV000355003]|KCNQ1-Related Disorders [RCV000301137]|Long QT syndrome [RCV000539698]|Short QT syndrome type 2 [RCV000259965]|not provided [RCV000767094]|not specified [RCV000455796] |
Chr11:2847958 [GRCh38]
Chr11:2869188 [GRCh37]
Chr11:11p15.4 |
pathogenic|benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842875]|Cardiovascular phenotype [RCV002415773]|Long QT syndrome [RCV001852307]|not provided [RCV000182239] |
Chr11:2847971 [GRCh38]
Chr11:2869201 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.8C>G (p.Ala3Gly) |
single nucleotide variant |
not provided [RCV000182241] |
Chr11:2445106 [GRCh38]
Chr11:2466336 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter) |
single nucleotide variant |
not provided [RCV000182243] |
Chr11:2445135 [GRCh38]
Chr11:2466365 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362932]|Long QT syndrome [RCV000794582]|not provided [RCV000182244] |
Chr11:2445162 [GRCh38]
Chr11:2466392 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.81C>A (p.Ser27Arg) |
single nucleotide variant |
not provided [RCV000182245] |
Chr11:2445179 [GRCh38]
Chr11:2466409 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter) |
duplication |
Long QT syndrome [RCV001245469]|not provided [RCV000182247] |
Chr11:2570700..2570701 [GRCh38]
Chr11:2591930..2591931 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.208C>A (p.Pro70Thr) |
single nucleotide variant |
not provided [RCV000182248] |
Chr11:2445306 [GRCh38]
Chr11:2466536 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.387-5T>A |
single nucleotide variant |
Long QT syndrome [RCV000477502] |
Chr11:2527923 [GRCh38]
Chr11:2549153 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.392T>C (p.Leu131Pro) |
single nucleotide variant |
Long QT syndrome [RCV002516855]|not provided [RCV000182251] |
Chr11:2527933 [GRCh38]
Chr11:2549163 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.477+1G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842876]|Cardiovascular phenotype [RCV002326984]|Congenital long QT syndrome [RCV001449695]|Long QT syndrome 1 [RCV000678956]|Long QT syndrome [RCV000473506]|not provided [RCV000182253] |
Chr11:2528019 [GRCh38]
Chr11:2549249 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002478613]|Cardiovascular phenotype [RCV002444731]|Long QT syndrome [RCV003105812]|not provided [RCV000182255] |
Chr11:2445340 [GRCh38]
Chr11:2466570 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.251C>G (p.Pro84Arg) |
single nucleotide variant |
Long QT syndrome [RCV003105813]|not provided [RCV000182256] |
Chr11:2445349 [GRCh38]
Chr11:2466579 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000764970]|Cardiovascular phenotype [RCV002433802]|Long QT syndrome [RCV000801967]|not provided [RCV000182257] |
Chr11:2445394 [GRCh38]
Chr11:2466624 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) |
single nucleotide variant |
Long QT syndrome 1 [RCV000678927] |
Chr11:2445419 [GRCh38]
Chr11:2466649 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
Long QT syndrome [RCV002517777]|not provided [RCV000182261] |
Chr11:2445441 [GRCh38]
Chr11:2466671 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.184G>A (p.Ala62Thr) |
single nucleotide variant |
not specified [RCV000182263] |
Chr11:2445282 [GRCh38]
Chr11:2466512 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.496TTC[1] (p.Phe167del) |
microsatellite |
not provided [RCV000182265] |
Chr11:2570646..2570648 [GRCh38]
Chr11:2591876..2591878 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.569_582del (p.Arg190fs) |
deletion |
not provided [RCV000182267] |
Chr11:2570718..2570731 [GRCh38]
Chr11:2591948..2591961 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.919_921+9del |
deletion |
not provided [RCV000182272] |
Chr11:2572982..2572993 [GRCh38]
Chr11:2594212..2594223 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1446del (p.Asn483fs) |
deletion |
Long QT syndrome [RCV000816739]|not provided [RCV000182275] |
Chr11:2662012 [GRCh38]
Chr11:2683242 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla) |
duplication |
Long QT syndrome [RCV000631646]|not provided [RCV000182276] |
Chr11:2583540..2583541 [GRCh38]
Chr11:2604770..2604771 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1032+5dup |
duplication |
Cardiac arrhythmia [RCV001842877] |
Chr11:2583548..2583549 [GRCh38]
Chr11:2604778..2604779 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1660del (p.Val554fs) |
deletion |
Cardiovascular phenotype [RCV003274058]|Long QT syndrome [RCV002857762] |
Chr11:2776028 [GRCh38]
Chr11:2797258 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1686del |
deletion |
Cardiac arrhythmia [RCV003591703]|Cardiovascular phenotype [RCV002399652]|Congenital long QT syndrome [RCV001449794]|Long QT syndrome [RCV000704132]|not provided [RCV000182285] |
Chr11:2776985 [GRCh38]
Chr11:2798215 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) |
deletion |
Cardiac arrhythmia [RCV001842878]|Long QT syndrome [RCV003114330] |
Chr11:2445260..2445282 [GRCh38]
Chr11:2466490..2466512 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.2(KCNQ1):c.201_221del21 (p.Ala68_Pro74del) |
deletion |
Cardiac arrhythmia [RCV000182291] |
Chr11:2445299..2445319 [GRCh38]
Chr11:2466529..2466549 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.403del (p.Val135fs) |
deletion |
Congenital long QT syndrome [RCV000609648]|Long QT syndrome [RCV003532029]|not provided [RCV000182292] |
Chr11:2527943 [GRCh38]
Chr11:2549173 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.425del (p.Leu142fs) |
deletion |
Long QT syndrome 1 [RCV000709730]|not provided [RCV000182293] |
Chr11:2527966 [GRCh38]
Chr11:2549196 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.969G>A (p.Trp323Ter) |
single nucleotide variant |
not provided [RCV000182296] |
Chr11:2583482 [GRCh38]
Chr11:2604712 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.557G>T (p.Gly186Val) |
single nucleotide variant |
not provided [RCV000182298] |
Chr11:2570707 [GRCh38]
Chr11:2591937 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly) |
single nucleotide variant |
Long QT syndrome [RCV003114331]|not provided [RCV000182301] |
Chr11:2571325 [GRCh38]
Chr11:2592555 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro) |
single nucleotide variant |
not provided [RCV000505717] |
Chr11:2572030 [GRCh38]
Chr11:2593260 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.707T>G (p.Leu236Arg) |
single nucleotide variant |
not provided [RCV000182304] |
Chr11:2572036 [GRCh38]
Chr11:2593266 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.805G>C (p.Gly269Arg) |
single nucleotide variant |
not provided [RCV000182306] |
Chr11:2572870 [GRCh38]
Chr11:2594100 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.806G>T (p.Gly269Val) |
single nucleotide variant |
not provided [RCV000182307] |
Chr11:2572871 [GRCh38]
Chr11:2594101 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly) |
single nucleotide variant |
Long QT syndrome [RCV003532030]|not provided [RCV000182313] |
Chr11:2583544 [GRCh38]
Chr11:2604774 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619144]|Long QT syndrome [RCV000631591] |
Chr11:2585260 [GRCh38]
Chr11:2606490 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1176G>A (p.Trp392Ter) |
single nucleotide variant |
not provided [RCV000182315] |
Chr11:2587617 [GRCh38]
Chr11:2608847 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842879]|Cardiovascular phenotype [RCV002345632]|Long QT syndrome [RCV000706581]|not provided [RCV000726985]|not specified [RCV000182317] |
Chr11:2587642 [GRCh38]
Chr11:2608872 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381590]|Long QT syndrome [RCV001852308]|not provided [RCV000182318] |
Chr11:2588816 [GRCh38]
Chr11:2610046 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1515-2A>G |
single nucleotide variant |
not provided [RCV000182319] |
Chr11:2768842 [GRCh38]
Chr11:2790072 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1631A>T (p.Gln544Leu) |
single nucleotide variant |
not provided [RCV000182321] |
Chr11:2776000 [GRCh38]
Chr11:2797230 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.2(KCNQ1):c.1706A>G (p.Lys569Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV000182322] |
Chr11:2777006 [GRCh38]
Chr11:2798236 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) |
single nucleotide variant |
Long QT syndrome [RCV003532031]|not provided [RCV000182323] |
Chr11:2778006 [GRCh38]
Chr11:2799236 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842880]|Long QT syndrome [RCV000803828] |
Chr11:2527989 [GRCh38]
Chr11:2549219 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.373T>G (p.Tyr125Asp) |
single nucleotide variant |
not provided [RCV000182328] |
Chr11:2445471 [GRCh38]
Chr11:2466701 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.377A>T (p.His126Leu) |
single nucleotide variant |
Long QT syndrome [RCV000631593]|not provided [RCV000182329] |
Chr11:2445475 [GRCh38]
Chr11:2466705 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.603_604+9del |
deletion |
Long QT syndrome 1 [RCV001256916]|Long QT syndrome [RCV002517778]|not provided [RCV000182331] |
Chr11:2570749..2570759 [GRCh38]
Chr11:2591979..2591989 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs) |
deletion |
Long QT syndrome [RCV003857294] |
Chr11:2583516..2583517 [GRCh38]
Chr11:2604746..2604747 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.2(KCNQ1):c.1252delG (p.Val418Terfs) |
deletion |
Cardiac arrhythmia [RCV000182335] |
Chr11:2588713 [GRCh38]
Chr11:2609943 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) |
duplication |
Cardiovascular phenotype [RCV002453656]|KCNQ1-related condition [RCV003390905]|Long QT syndrome 1 [RCV000193564]|Long QT syndrome [RCV001385666]|not provided [RCV000182336] |
Chr11:2445461..2445462 [GRCh38]
Chr11:2466691..2466692 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.683+2T>G |
single nucleotide variant |
Long QT syndrome [RCV000190163] |
Chr11:2571405 [GRCh38]
Chr11:2592635 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.2(KCNQ1):c.584delG (p.Lys196Serfs) |
deletion |
Long QT syndrome [RCV000196205] |
Chr11:2570734 [GRCh38]
Chr11:2591964 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108125]|Cardiac arrhythmia [RCV001842947]|Cardiovascular phenotype [RCV002363014]|Jervell and Lange-Nielsen syndrome 1 [RCV001108127]|Long QT syndrome 1 [RCV001108128]|Long QT syndrome [RCV000198522]|Short QT syndrome type 2 [RCV001108126]|not provided [RCV001682912] |
Chr11:2587593 [GRCh38]
Chr11:2608823 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser) |
single nucleotide variant |
Long QT syndrome 1 [RCV003319344]|not provided [RCV000289174] |
Chr11:2572020 [GRCh38]
Chr11:2593250 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1456G>C (p.Ala486Pro) |
single nucleotide variant |
Long QT syndrome [RCV000205251] |
Chr11:2662023 [GRCh38]
Chr11:2683253 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Long QT syndrome [RCV000206337] |
Chr11:2445099 [GRCh38]
Chr11:2466329 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363026]|Long QT syndrome [RCV000206825] |
Chr11:2572030 [GRCh38]
Chr11:2593260 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591714]|Cardiovascular phenotype [RCV002381704]|Long QT syndrome [RCV000206878] |
Chr11:2588804 [GRCh38]
Chr11:2610034 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 |
copy number gain |
See cases [RCV000446036] |
Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841421]|Cardiovascular phenotype [RCV002395295]|Long QT syndrome [RCV000544013]|not specified [RCV001260414] |
Chr11:2775977 [GRCh38]
Chr11:2797207 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591777]|Cardiovascular phenotype [RCV002406677]|Long QT syndrome [RCV001466223]|not provided [RCV000756286] |
Chr11:2847823 [GRCh38]
Chr11:2869053 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842969]|not specified [RCV000221889] |
Chr11:2587614 [GRCh38]
Chr11:2608844 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842981]|Cardiovascular phenotype [RCV002338680]|Long QT syndrome [RCV003765391]|not provided [RCV000766711]|not specified [RCV000222334] |
Chr11:2587637 [GRCh38]
Chr11:2608867 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.605-11G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842966]|Long QT syndrome [RCV002054374]|not provided [RCV001697213]|not specified [RCV000220112] |
Chr11:2571314 [GRCh38]
Chr11:2592544 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1795-4G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842971]|KCNQ1-related condition [RCV003897470]|Long QT syndrome [RCV000538761]|not specified [RCV000215526] |
Chr11:2847763 [GRCh38]
Chr11:2868993 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1374C>T (p.Val458=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842970]|Long QT syndrome [RCV001506590]|not provided [RCV000864959]|not specified [RCV000215583] |
Chr11:2588835 [GRCh38]
Chr11:2610065 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+7G>T |
single nucleotide variant |
KCNQ1-related condition [RCV003897469]|Long QT syndrome [RCV000866566]|not provided [RCV001310950]|not specified [RCV000218634] |
Chr11:2662088 [GRCh38]
Chr11:2683318 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002485389]|Long QT syndrome [RCV001210394]|not specified [RCV000221061] |
Chr11:2587643 [GRCh38]
Chr11:2608873 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842968]|Cardiovascular phenotype [RCV002399783]|Long QT syndrome [RCV001853414]|not provided [RCV001532624]|not specified [RCV000214712] |
Chr11:2585226 [GRCh38]
Chr11:2606456 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591716]|Cardiovascular phenotype [RCV003165526]|Long QT syndrome [RCV000868953]|not provided [RCV001726049]|not specified [RCV000216531] |
Chr11:2570681 [GRCh38]
Chr11:2591911 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1926C>G (p.Cys642Trp) |
single nucleotide variant |
not specified [RCV000219204] |
Chr11:2847898 [GRCh38]
Chr11:2869128 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro) |
single nucleotide variant |
Long QT syndrome [RCV000230409] |
Chr11:2585290 [GRCh38]
Chr11:2606520 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1537A>T (p.Thr513Ser) |
single nucleotide variant |
Long QT syndrome [RCV002519753]|not specified [RCV000223763] |
Chr11:2768866 [GRCh38]
Chr11:2790096 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000309382]|Cardiac arrhythmia [RCV001842987]|Cardiovascular phenotype [RCV000253803]|Jervell and Lange-Nielsen syndrome 1 [RCV000313609]|KCNQ1-related condition [RCV003919916]|Long QT syndrome 1 [RCV001093997]|Long QT syndrome [RCV000231907]|Short QT syndrome type 2 [RCV000396200]|not provided [RCV000341550]|not specified [RCV002282069] |
Chr11:2847847 [GRCh38]
Chr11:2869077 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1665C>T (p.Arg555=) |
single nucleotide variant |
Long QT syndrome [RCV001495682] |
Chr11:2776034 [GRCh38]
Chr11:2797264 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1515-7_1515-6insGC |
insertion |
Long QT syndrome [RCV000228383] |
Chr11:2768837..2768838 [GRCh38]
Chr11:2790067..2790068 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1836G>A (p.Met612Ile) |
single nucleotide variant |
Long QT syndrome [RCV000228919] |
Chr11:2847808 [GRCh38]
Chr11:2869038 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1205G>A (p.Ser402Asn) |
single nucleotide variant |
Long QT syndrome [RCV000234400] |
Chr11:2587646 [GRCh38]
Chr11:2608876 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842988]|Cardiovascular phenotype [RCV000618387]|Long QT syndrome [RCV000226878]|not provided [RCV001651084] |
Chr11:2847898 [GRCh38]
Chr11:2869128 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) |
deletion |
Cardiac arrhythmia [RCV001842944]|Long QT syndrome 1 [RCV000234787]|Long QT syndrome [RCV002517025] |
Chr11:2527984 [GRCh38]
Chr11:2549214 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys) |
single nucleotide variant |
Long QT syndrome 1 [RCV000234788] |
Chr11:2572087 [GRCh38]
Chr11:2593317 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1733-1G>C |
single nucleotide variant |
Long QT syndrome 1 [RCV000234796]|Long QT syndrome [RCV000461061] |
Chr11:2777975 [GRCh38]
Chr11:2799205 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842943]|Congenital long QT syndrome [RCV000825589]|Long QT syndrome 1 [RCV000234798]|Long QT syndrome [RCV000801452]|not provided [RCV001781560] |
Chr11:2570707 [GRCh38]
Chr11:2591937 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs) |
duplication |
Long QT syndrome 1 [RCV000234800] |
Chr11:2662043..2662044 [GRCh38]
Chr11:2683273..2683274 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) |
single nucleotide variant |
Long QT syndrome 1 [RCV000234806]|Long QT syndrome [RCV001857668]|not provided [RCV001557025] |
Chr11:2585230 [GRCh38]
Chr11:2606460 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1686-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV000621754]|Long QT syndrome 1 [RCV000234808]|Long QT syndrome [RCV000456381]|not provided [RCV000786150] |
Chr11:2776984 [GRCh38]
Chr11:2798214 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) |
single nucleotide variant |
Long QT syndrome [RCV000229159] |
Chr11:2570719 [GRCh38]
Chr11:2591949 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.528G>A (p.Trp176Ter) |
single nucleotide variant |
not provided [RCV000223822] |
Chr11:2570678 [GRCh38]
Chr11:2591908 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1251+13C>A |
single nucleotide variant |
Long QT syndrome [RCV002065274]|not specified [RCV000606380] |
Chr11:2587705 [GRCh38]
Chr11:2608935 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln) |
duplication |
Long QT syndrome [RCV000526331] |
Chr11:2847761..2847762 [GRCh38]
Chr11:2868991..2868992 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841413]|Cardiovascular phenotype [RCV002420315]|Long QT syndrome [RCV001056790]|not provided [RCV000519393] |
Chr11:2847989 [GRCh38]
Chr11:2869219 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) |
duplication |
Long QT syndrome 1 [RCV000239665] |
Chr11:2570664..2570665 [GRCh38]
Chr11:2591894..2591895 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.345G>A (p.Glu115=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002487150]|Cardiovascular phenotype [RCV000246178]|Long QT syndrome [RCV001405895] |
Chr11:2445443 [GRCh38]
Chr11:2466673 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1033-4C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001843013]|Long QT syndrome [RCV001459456]|not provided [RCV000631789]|not specified [RCV000246445] |
Chr11:2585208 [GRCh38]
Chr11:2606438 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843034]|Cardiovascular phenotype [RCV000244135]|Long QT syndrome [RCV001079893]|not provided [RCV000470507]|not specified [RCV001699280] |
Chr11:2583497 [GRCh38]
Chr11:2604727 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1140G>A (p.Arg380=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843014]|Long QT syndrome [RCV001481280]|not specified [RCV000251481] |
Chr11:2587581 [GRCh38]
Chr11:2608811 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591725]|Cardiovascular phenotype [RCV000241770]|Long QT syndrome [RCV001035204] |
Chr11:2588801 [GRCh38]
Chr11:2610031 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242306]|Long QT syndrome [RCV001321514] |
Chr11:2572865 [GRCh38]
Chr11:2594095 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843035]|Cardiovascular phenotype [RCV000252358]|KCNQ1-related condition [RCV003955411]|Long QT syndrome [RCV001457705]|not provided [RCV000631844]|not specified [RCV000589449] |
Chr11:2571362 [GRCh38]
Chr11:2592592 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843031]|Cardiovascular phenotype [RCV000242793]|Long QT syndrome [RCV000631811]|not provided [RCV001709568]|not specified [RCV001193178] |
Chr11:2777016 [GRCh38]
Chr11:2798246 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.2(KCNQ1):c.152_153insCGCGCCCAT (p.Pro56_Gly57insIleAlaPro) |
insertion |
Cardiovascular phenotype [RCV000250126] |
Chr11:2445250..2445251 [GRCh38]
Chr11:2466480..2466481 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup |
duplication |
Long QT syndrome 1 [RCV000496727] |
Chr11:2768843..2778038 [GRCh38]
Chr11:2790073..2799268 [GRCh37]
Chr11:11p15.5-15.4 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1107G>A (p.Pro369=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841417]|Cardiovascular phenotype [RCV002431535]|Long QT syndrome [RCV000529017] |
Chr11:2585286 [GRCh38]
Chr11:2606516 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) |
single nucleotide variant |
Long QT syndrome 1 [RCV000240629] |
Chr11:2445447 [GRCh38]
Chr11:2466677 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His) |
single nucleotide variant |
Long QT syndrome [RCV003532152]|not provided [RCV000521598] |
Chr11:2583456 [GRCh38]
Chr11:2604686 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.629T>C (p.Met210Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243378] |
Chr11:2571349 [GRCh38]
Chr11:2592579 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253252]|Long QT syndrome 1 [RCV003326392]|Long QT syndrome [RCV001859449]|not provided [RCV002464154] |
Chr11:2570714 [GRCh38]
Chr11:2591944 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.*479G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000348924]|Congenital long QT syndrome [RCV000282640]|Jervell and Lange-Nielsen syndrome 1 [RCV000336354]|Long QT syndrome 1 [RCV000278908]|Long QT syndrome [RCV001511444]|Short QT syndrome type 2 [RCV000374654]|not provided [RCV001539784] |
Chr11:2848482 [GRCh38]
Chr11:2869712 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.*392A>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000283408]|Congenital long QT syndrome [RCV000340741]|Jervell and Lange-Nielsen syndrome 1 [RCV000286912]|Long QT syndrome 1 [RCV000335075]|Short QT syndrome type 2 [RCV000378979] |
Chr11:2848395 [GRCh38]
Chr11:2869625 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+22646C>G |
single nucleotide variant |
Congenital long QT syndrome [RCV000378069]|Familial atrial fibrillation [RCV000338590]|Jervell and Lange-Nielsen syndrome [RCV000321060]|Long QT syndrome [RCV000402664]|Short QT syndrome [RCV000281229] |
Chr11:2611500 [GRCh38]
Chr11:2632730 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*731G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000405501]|Congenital long QT syndrome [RCV000302652]|Jervell and Lange-Nielsen syndrome 1 [RCV000342383]|Long QT syndrome 1 [RCV000393993]|Short QT syndrome type 2 [RCV000287340]|not provided [RCV002292516] |
Chr11:2848734 [GRCh38]
Chr11:2869964 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.387-7C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000305874]|Cardiac arrhythmia [RCV001843044]|Congenital long QT syndrome [RCV000360571]|Jervell and Lange-Nielsen syndrome 1 [RCV000302203]|Long QT syndrome 1 [RCV001093927]|Long QT syndrome [RCV000394457]|Short QT syndrome type 2 [RCV000399547]|not provided [RCV001718615] |
Chr11:2527921 [GRCh38]
Chr11:2549151 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.*264T>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000306291]|Congenital long QT syndrome [RCV000363280]|Jervell and Lange-Nielsen syndrome 1 [RCV000302700]|Long QT syndrome 1 [RCV000402708]|Short QT syndrome type 2 [RCV000395954] |
Chr11:2848267 [GRCh38]
Chr11:2869497 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*975C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000333689]|Jervell and Lange-Nielsen syndrome 1 [RCV000269305]|Long QT syndrome 1 [RCV000294017]|Short QT syndrome type 2 [RCV000388321]|not provided [RCV001843507] |
Chr11:2848978 [GRCh38]
Chr11:2870208 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+21538C>T |
single nucleotide variant |
Congenital long QT syndrome [RCV000269668]|Familial atrial fibrillation [RCV000365687]|Jervell and Lange-Nielsen syndrome [RCV000327014]|Long QT syndrome [RCV000287215]|Short QT syndrome [RCV000379257] |
Chr11:2610392 [GRCh38]
Chr11:2631622 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*712G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000325077]|Congenital long QT syndrome [RCV000330457]|Jervell and Lange-Nielsen syndrome 1 [RCV000270086]|Long QT syndrome 1 [RCV000388961]|Short QT syndrome type 2 [RCV000368830] |
Chr11:2848715 [GRCh38]
Chr11:2869945 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*47A>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000296844]|Congenital long QT syndrome [RCV000286698]|Jervell and Lange-Nielsen syndrome 1 [RCV000403539]|Long QT syndrome 1 [RCV000338318]|Short QT syndrome type 2 [RCV000341725] |
Chr11:2848050 [GRCh38]
Chr11:2869280 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*581T>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000287989]|Congenital long QT syndrome [RCV000389335]|Jervell and Lange-Nielsen syndrome 1 [RCV000332360]|Long QT syndrome 1 [RCV000345059]|Short QT syndrome type 2 [RCV000293791] |
Chr11:2848584 [GRCh38]
Chr11:2869814 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+31361T>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000305638]|Familial atrial fibrillation [RCV000363774]|Jervell and Lange-Nielsen syndrome [RCV000306587]|Long QT syndrome [RCV000395156]|Short QT syndrome [RCV000266763] |
Chr11:2620215 [GRCh38]
Chr11:2641445 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4974G>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000384184]|Familial atrial fibrillation [RCV000327250]|Jervell and Lange-Nielsen syndrome [RCV000378240]|Long QT syndrome [RCV000292069]|Short QT syndrome [RCV000346907]|not provided [RCV002262956] |
Chr11:2667055 [GRCh38]
Chr11:2688285 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*391G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000383406]|Congenital long QT syndrome [RCV000287778]|Jervell and Lange-Nielsen syndrome 1 [RCV000389143]|Long QT syndrome 1 [RCV000332475]|Short QT syndrome type 2 [RCV000326444] |
Chr11:2848394 [GRCh38]
Chr11:2869624 [GRCh37]
Chr11:11p15.4 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) |
single nucleotide variant |
Congenital long QT syndrome [RCV000296682]|Familial atrial fibrillation [RCV000288573]|Jervell and Lange-Nielsen syndrome [RCV000403357]|Long QT syndrome [RCV000348188]|Short QT syndrome [RCV000351682] |
Chr11:2847945 [GRCh38]
Chr11:2869175 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*932A>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000328317]|Congenital long QT syndrome [RCV000273314]|Jervell and Lange-Nielsen syndrome 1 [RCV000364323]|Long QT syndrome 1 [RCV000303606]|Long QT syndrome [RCV001511446]|Short QT syndrome type 2 [RCV000358658]|not provided [RCV001683226] |
Chr11:2848935 [GRCh38]
Chr11:2870165 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.*875A>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000403219]|Congenital long QT syndrome [RCV000291070]|Jervell and Lange-Nielsen syndrome 1 [RCV000376159]|Long QT syndrome 1 [RCV000306710]|Long QT syndrome [RCV001511445]|Short QT syndrome type 2 [RCV000345978]|not provided [RCV001718616] |
Chr11:2848878 [GRCh38]
Chr11:2870108 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.*742G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000366680]|Congenital long QT syndrome [RCV000406331]|Jervell and Lange-Nielsen syndrome 1 [RCV000308098]|Long QT syndrome 1 [RCV000362814]|Short QT syndrome type 2 [RCV000277571]|not provided [RCV001636870] |
Chr11:2848745 [GRCh38]
Chr11:2869975 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1251+13C>T |
single nucleotide variant |
Congenital long QT syndrome [RCV000343082]|Familial atrial fibrillation [RCV000325517]|Jervell and Lange-Nielsen syndrome [RCV000291801]|Long QT syndrome [RCV000382413]|Short QT syndrome [RCV000285772]|not specified [RCV000609343] |
Chr11:2587705 [GRCh38]
Chr11:2608935 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.*1055C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000309780]|Congenital long QT syndrome [RCV000364434]|Jervell and Lange-Nielsen syndrome 1 [RCV000406293]|Long QT syndrome 1 [RCV000340232]|Short QT syndrome type 2 [RCV000404322] |
Chr11:2849058 [GRCh38]
Chr11:2870288 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+9C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000389901]|Congenital long QT syndrome [RCV000332919]|Jervell and Lange-Nielsen syndrome 1 [RCV000353824]|Long QT syndrome 1 [RCV001093979]|Long QT syndrome [RCV000261461]|Short QT syndrome type 2 [RCV000274498] |
Chr11:2662090 [GRCh38]
Chr11:2683320 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.*411C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000370070]|Congenital long QT syndrome [RCV000363342]|Jervell and Lange-Nielsen syndrome 1 [RCV000277032]|Long QT syndrome 1 [RCV000306365]|Short QT syndrome type 2 [RCV000271020]|not provided [RCV001653495] |
Chr11:2848414 [GRCh38]
Chr11:2869644 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*877C>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000312614]|Congenital long QT syndrome [RCV000352219]|Jervell and Lange-Nielsen syndrome 1 [RCV000403975]|Long QT syndrome 1 [RCV000263206]|Short QT syndrome type 2 [RCV000367283] |
Chr11:2848880 [GRCh38]
Chr11:2870110 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1794+12C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000293701]|Congenital long QT syndrome [RCV000348633]|Jervell and Lange-Nielsen syndrome 1 [RCV000390755]|Long QT syndrome 1 [RCV000278548]|Short QT syndrome type 2 [RCV000338238] |
Chr11:2778049 [GRCh38]
Chr11:2799279 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*377del |
deletion |
Familial atrial fibrillation [RCV000261614]|Jervell and Lange-Nielsen syndrome [RCV000367323]|Long QT syndrome [RCV000354113]|Short QT syndrome [RCV000319600]|not provided [RCV001731581] |
Chr11:2848376 [GRCh38]
Chr11:2869606 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*897G>T |
single nucleotide variant |
Congenital long QT syndrome [RCV000294638]|Familial atrial fibrillation [RCV000389035]|Jervell and Lange-Nielsen syndrome [RCV000391821]|Long QT syndrome [RCV000300371]|Short QT syndrome [RCV000349594] |
Chr11:2848900 [GRCh38]
Chr11:2870130 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+3G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841255]|Cardiovascular phenotype [RCV002392838]|Congenital long QT syndrome [RCV000394376]|Familial atrial fibrillation [RCV000262598]|Jervell and Lange-Nielsen syndrome [RCV000302307]|Long QT syndrome [RCV000359640]|Short QT syndrome [RCV000301238]|not specified [RCV002265729] |
Chr11:2662084 [GRCh38]
Chr11:2683314 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.*305A>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000344423]|Congenital long QT syndrome [RCV000405723]|Jervell and Lange-Nielsen syndrome 1 [RCV000296440]|Long QT syndrome 1 [RCV000290594]|Short QT syndrome type 2 [RCV000347433] |
Chr11:2848308 [GRCh38]
Chr11:2869538 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*837G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000340166]|Congenital long QT syndrome [RCV000315822]|Jervell and Lange-Nielsen syndrome 1 [RCV000260634]|Long QT syndrome 1 [RCV000285283]|Short QT syndrome type 2 [RCV000379709]|not provided [RCV001778895] |
Chr11:2848840 [GRCh38]
Chr11:2870070 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.*266G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000324733]|Congenital long QT syndrome [RCV000261351]|Jervell and Lange-Nielsen syndrome 1 [RCV000359681]|Long QT syndrome 1 [RCV000353758]|Short QT syndrome type 2 [RCV000267398] |
Chr11:2848269 [GRCh38]
Chr11:2869499 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.*350G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000395384]|Congenital long QT syndrome [RCV000406598]|Jervell and Lange-Nielsen syndrome 1 [RCV000296933]|Long QT syndrome 1 [RCV000303077]|Short QT syndrome type 2 [RCV000360225]|not provided [RCV001843506] |
Chr11:2848353 [GRCh38]
Chr11:2869583 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*904T>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000361985]|Congenital long QT syndrome [RCV000336717]|Jervell and Lange-Nielsen syndrome 1 [RCV000297878]|Long QT syndrome 1 [RCV000403186]|Short QT syndrome type 2 [RCV000402784] |
Chr11:2848907 [GRCh38]
Chr11:2870137 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.*717T>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000385301]|Congenital long QT syndrome [RCV000281678]|Jervell and Lange-Nielsen syndrome 1 [RCV000336506]|Long QT syndrome 1 [RCV000294571]|Short QT syndrome type 2 [RCV000330859] |
Chr11:2848720 [GRCh38]
Chr11:2869950 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.*241G>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000352721]|Familial atrial fibrillation [RCV000293137]|Jervell and Lange-Nielsen syndrome [RCV000282494]|Long QT syndrome [RCV000337482]|Short QT syndrome [RCV000390650] |
Chr11:2848244 [GRCh38]
Chr11:2869474 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.972C>T (p.Val324=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000263393]|Cardiac arrhythmia [RCV001841254]|Cardiovascular phenotype [RCV002374519]|Jervell and Lange-Nielsen syndrome 1 [RCV000322164]|Long QT syndrome 1 [RCV001093990]|Long QT syndrome [RCV000373259]|Short QT syndrome type 2 [RCV000316204] |
Chr11:2583485 [GRCh38]
Chr11:2604715 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.*464G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000323690]|Congenital long QT syndrome [RCV000380600]|Jervell and Lange-Nielsen syndrome 1 [RCV000266189]|Long QT syndrome 1 [RCV000328448]|Short QT syndrome type 2 [RCV000377131]|not provided [RCV001786358] |
Chr11:2848467 [GRCh38]
Chr11:2869697 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*1025G>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000281297]|Congenital long QT syndrome [RCV000375635]|Jervell and Lange-Nielsen syndrome 1 [RCV000285348]|Long QT syndrome 1 [RCV000390924]|Short QT syndrome type 2 [RCV000336315] |
Chr11:2849028 [GRCh38]
Chr11:2870258 [GRCh37]
Chr11:11p15.4 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.781-6G>T |
single nucleotide variant |
Congenital long QT syndrome [RCV000304778]|Familial atrial fibrillation [RCV000270782]|Jervell and Lange-Nielsen syndrome [RCV000361779]|Long QT syndrome [RCV000264807]|Short QT syndrome [RCV000363424] |
Chr11:2572840 [GRCh38]
Chr11:2594070 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*219G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000320850]|Congenital long QT syndrome [RCV000372179]|Jervell and Lange-Nielsen syndrome 1 [RCV000380329]|Long QT syndrome 1 [RCV000285965]|Short QT syndrome type 2 [RCV000336175]|not provided [RCV001577233] |
Chr11:2848222 [GRCh38]
Chr11:2869452 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1685+9G>A |
single nucleotide variant |
Long QT syndrome [RCV002059302]|not provided [RCV000313439] |
Chr11:2776063 [GRCh38]
Chr11:2797293 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.759C>T (p.Ser253=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843042]|Cardiovascular phenotype [RCV002392812]|Long QT syndrome [RCV001489162]|not provided [RCV000726364] |
Chr11:2572088 [GRCh38]
Chr11:2593318 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.879C>A (p.Arg293=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843043]|Cardiovascular phenotype [RCV003165770]|Long QT syndrome [RCV002059270]|not provided [RCV000726365] |
Chr11:2572944 [GRCh38]
Chr11:2594174 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.*889AAT[1] |
microsatellite |
Congenital long QT syndrome [RCV000264691]|Familial atrial fibrillation [RCV000329144]|Jervell and Lange-Nielsen syndrome [RCV000288902]|Long QT syndrome [RCV000343832]|Short QT syndrome [RCV000383802] |
Chr11:2848892..2848894 [GRCh38]
Chr11:2870122..2870124 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.*1088G>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000331127]|Congenital long QT syndrome [RCV000276077]|Jervell and Lange-Nielsen syndrome 1 [RCV000370686]|Long QT syndrome 1 [RCV000367066]|Short QT syndrome type 2 [RCV000306340] |
Chr11:2849091 [GRCh38]
Chr11:2870321 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*171G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000265778]|Congenital long QT syndrome [RCV000329096]|Jervell and Lange-Nielsen syndrome 1 [RCV000383761]|Long QT syndrome 1 [RCV000269073]|Short QT syndrome type 2 [RCV000363652] |
Chr11:2848174 [GRCh38]
Chr11:2869404 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+28111T>G |
single nucleotide variant |
Congenital long QT syndrome [RCV000312501]|Familial atrial fibrillation [RCV000395201]|Jervell and Lange-Nielsen syndrome [RCV000364803]|Long QT syndrome [RCV000351241]|Short QT syndrome [RCV000279834] |
Chr11:2616965 [GRCh38]
Chr11:2638195 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) |
single nucleotide variant |
Congenital long QT syndrome [RCV000278121]|Familial atrial fibrillation [RCV000333235]|Jervell and Lange-Nielsen syndrome [RCV000387615]|Long QT syndrome [RCV000318992]|Short QT syndrome [RCV000373591] |
Chr11:2445164 [GRCh38]
Chr11:2466394 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*482G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000352333]|Congenital long QT syndrome [RCV000403746]|Jervell and Lange-Nielsen syndrome 1 [RCV000313831]|Long QT syndrome 1 [RCV000308155]|Short QT syndrome type 2 [RCV000390839]|not provided [RCV001683225] |
Chr11:2848485 [GRCh38]
Chr11:2869715 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.*806C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000313926]|Congenital long QT syndrome [RCV000319851]|Jervell and Lange-Nielsen syndrome 1 [RCV000374570]|Long QT syndrome 1 [RCV000368716]|Short QT syndrome type 2 [RCV000274123] |
Chr11:2848809 [GRCh38]
Chr11:2870039 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+21526C>T |
single nucleotide variant |
Congenital long QT syndrome [RCV000399389]|Familial atrial fibrillation [RCV000315501]|Jervell and Lange-Nielsen syndrome [RCV000327315]|Long QT syndrome [RCV000366774]|Short QT syndrome [RCV000274570] |
Chr11:2610380 [GRCh38]
Chr11:2631610 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*539G>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000360151]|Congenital long QT syndrome [RCV000267689]|Jervell and Lange-Nielsen syndrome 1 [RCV000303024]|Long QT syndrome 1 [RCV000365278]|Short QT syndrome type 2 [RCV000273039] |
Chr11:2848542 [GRCh38]
Chr11:2869772 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*887_*889del |
deletion |
Congenital long QT syndrome [RCV000268085]|Familial atrial fibrillation [RCV000299683]|Jervell and Lange-Nielsen syndrome [RCV000323257]|Long QT syndrome [RCV000353568]|Short QT syndrome [RCV000377880] |
Chr11:2848889..2848891 [GRCh38]
Chr11:2870119..2870121 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) |
single nucleotide variant |
Congenital long QT syndrome [RCV000374796]|Familial atrial fibrillation [RCV000335358]|Jervell and Lange-Nielsen syndrome [RCV000280258]|Long QT syndrome [RCV000338895]|Short QT syndrome [RCV000283601] |
Chr11:2571370 [GRCh38]
Chr11:2592600 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.493G>A (p.Val165Met) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002506185]|Cardiac arrhythmia [RCV001841401]|Long QT syndrome [RCV001856895]|not provided [RCV002509411] |
Chr11:2570643 [GRCh38]
Chr11:2591873 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1076A>C (p.Gln359Pro) |
single nucleotide variant |
Long QT syndrome [RCV001856912]|not provided [RCV000489458] |
Chr11:2585255 [GRCh38]
Chr11:2606485 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1393+31188T>G |
single nucleotide variant |
not provided [RCV003312185] |
Chr11:2620042 [GRCh38]
Chr11:2641272 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn) |
single nucleotide variant |
not provided [RCV002292787] |
Chr11:2572886 [GRCh38]
Chr11:2594116 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.190C>T (p.Pro64Ser) |
single nucleotide variant |
Long QT syndrome [RCV001854103]|not provided [RCV000595127] |
Chr11:2445288 [GRCh38]
Chr11:2466518 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-18150T>G |
single nucleotide variant |
not provided [RCV003312190] |
Chr11:2643811 [GRCh38]
Chr11:2665041 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+27683G>A |
single nucleotide variant |
not provided [RCV003312192] |
Chr11:2689764 [GRCh38]
Chr11:2710994 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs) |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV000590976] |
Chr11:2661991..2661994 [GRCh38]
Chr11:2683221..2683224 [GRCh37]
Chr11:11p15.5 |
pathogenic|association |
| NM_000218.3(KCNQ1):c.*633G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000408373]|Congenital long QT syndrome [RCV000304589]|Jervell and Lange-Nielsen syndrome 1 [RCV000291460]|Long QT syndrome 1 [RCV000406053]|Short QT syndrome type 2 [RCV000339402] |
Chr11:2848636 [GRCh38]
Chr11:2869866 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) |
single nucleotide variant |
Congenital long QT syndrome [RCV000339887]|Familial atrial fibrillation [RCV000304914]|Jervell and Lange-Nielsen syndrome [RCV000303797]|Long QT syndrome [RCV000402579]|Short QT syndrome [RCV000394371] |
Chr11:2847951 [GRCh38]
Chr11:2869181 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*554T>G |
single nucleotide variant |
Congenital long QT syndrome [RCV000319098]|Familial atrial fibrillation [RCV000315778]|Jervell and Lange-Nielsen syndrome [RCV000385341]|Long QT syndrome [RCV000261686]|Short QT syndrome [RCV000354165] |
Chr11:2848557 [GRCh38]
Chr11:2869787 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter) |
single nucleotide variant |
Long QT syndrome [RCV000631555]|not provided [RCV000627202] |
Chr11:2445192 [GRCh38]
Chr11:2466422 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.-69G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000375118]|Atrial fibrillation, familial, 3 [RCV002480110]|Congenital long QT syndrome [RCV000339099]|Jervell and Lange-Nielsen syndrome 1 [RCV000284085]|Long QT syndrome 1 [RCV000378396]|Short QT syndrome type 2 [RCV000323754] |
Chr11:2445030 [GRCh38]
Chr11:2466260 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*292C>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000388198]|Familial atrial fibrillation [RCV000375595]|Jervell and Lange-Nielsen syndrome [RCV000318949]|Long QT syndrome [RCV000292799]|Short QT syndrome [RCV000331378] |
Chr11:2848295 [GRCh38]
Chr11:2869525 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841423]|Cardiovascular phenotype [RCV000617722]|Long QT syndrome [RCV000551513] |
Chr11:2847874 [GRCh38]
Chr11:2869104 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.396C>T (p.Ile132=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302780]|Long QT syndrome [RCV000529081] |
Chr11:2527937 [GRCh38]
Chr11:2549167 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) |
single nucleotide variant |
Congenital long QT syndrome [RCV000322550]|Familial atrial fibrillation [RCV000376919]|Jervell and Lange-Nielsen syndrome [RCV000361952]|Long QT syndrome [RCV000267409]|Short QT syndrome [RCV000263850] |
Chr11:2445127 [GRCh38]
Chr11:2466357 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*652G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000355917]|Congenital long QT syndrome [RCV000395275]|Jervell and Lange-Nielsen syndrome 1 [RCV000361540]|Long QT syndrome 1 [RCV000298806]|Short QT syndrome type 2 [RCV000263552] |
Chr11:2848655 [GRCh38]
Chr11:2869885 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*398C>T |
single nucleotide variant |
Congenital long QT syndrome [RCV000403422]|Familial atrial fibrillation [RCV000313034]|Jervell and Lange-Nielsen syndrome [RCV000300037]|Long QT syndrome [RCV000338558]|Short QT syndrome [RCV000397713] |
Chr11:2848401 [GRCh38]
Chr11:2869631 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620682] |
Chr11:2572021 [GRCh38]
Chr11:2593251 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1578G>T (p.Lys526Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620758] |
Chr11:2768907 [GRCh38]
Chr11:2790137 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*26C>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000326834]|Familial atrial fibrillation [RCV000290090]|Jervell and Lange-Nielsen syndrome [RCV000340465]|Long QT syndrome [RCV000376447]|Short QT syndrome [RCV000384513] |
Chr11:2848029 [GRCh38]
Chr11:2869259 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*160C>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000312544]|Familial atrial fibrillation [RCV000313543]|Jervell and Lange-Nielsen syndrome [RCV000367249]|Long QT syndrome [RCV000397422]|Short QT syndrome [RCV000277228] |
Chr11:2848163 [GRCh38]
Chr11:2869393 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.-38C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000350171]|Congenital long QT syndrome [RCV000396424]|Jervell and Lange-Nielsen syndrome 1 [RCV000314033]|Long QT syndrome 1 [RCV000335178]|Short QT syndrome type 2 [RCV000280671]|not provided [RCV001612958] |
Chr11:2445061 [GRCh38]
Chr11:2466291 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1129-9C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841502]|Long QT syndrome [RCV001460337]|not provided [RCV001697527] |
Chr11:2587561 [GRCh38]
Chr11:2608791 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) |
duplication |
Atrial fibrillation, familial, 3 [RCV002483364]|Cardiac arrhythmia [RCV003591742]|Long QT syndrome [RCV000527526] |
Chr11:2847874..2847875 [GRCh38]
Chr11:2869104..2869105 [GRCh37]
Chr11:11p15.4 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter) |
single nucleotide variant |
not provided [RCV000579300] |
Chr11:2445222 [GRCh38]
Chr11:2466452 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1534del (p.Ala512fs) |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV000590985] |
Chr11:2768861 [GRCh38]
Chr11:2790091 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.20del (p.Pro7fs) |
deletion |
not provided [RCV000627413] |
Chr11:2445115 [GRCh38]
Chr11:2466345 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.192_221del (p.Ala65_Pro74del) |
deletion |
Cardiovascular phenotype [RCV002413690]|not provided [RCV000599104] |
Chr11:2445280..2445309 [GRCh38]
Chr11:2466510..2466539 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1794+10C>T |
single nucleotide variant |
Long QT syndrome [RCV000550629]|not specified [RCV003987583] |
Chr11:2778047 [GRCh38]
Chr11:2799277 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384282]|Long QT syndrome [RCV001391730]|not provided [RCV000590183] |
Chr11:2588784 [GRCh38]
Chr11:2610014 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841782]|Long QT syndrome [RCV001427756]|not specified [RCV000604417] |
Chr11:2775965 [GRCh38]
Chr11:2797195 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1129-8G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841494]|Long QT syndrome [RCV001504046]|not specified [RCV000605561] |
Chr11:2587562 [GRCh38]
Chr11:2608792 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841785]|Cardiovascular phenotype [RCV000621150]|Long QT syndrome [RCV000818634]|not provided [RCV002281118] |
Chr11:2587639 [GRCh38]
Chr11:2608869 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1190G>A (p.Arg397Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348130]|Long QT syndrome [RCV001320930]|not provided [RCV000414620] |
Chr11:2587631 [GRCh38]
Chr11:2608861 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.858C>T (p.Asp286=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841424]|Cardiovascular phenotype [RCV002448626]|Long QT syndrome [RCV000536743]|not provided [RCV001637066]|not specified [RCV001700200] |
Chr11:2572923 [GRCh38]
Chr11:2594153 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1252-3del |
deletion |
Cardiac arrhythmia [RCV001841877]|Long QT syndrome [RCV001523198]|not specified [RCV000728507] |
Chr11:2588703 [GRCh38]
Chr11:2609933 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002480271]|Cardiac arrhythmia [RCV001841279]|Long QT syndrome [RCV002521457]|not provided [RCV002244862] |
Chr11:2588810 [GRCh38]
Chr11:2610040 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000764972]|Long QT syndrome [RCV000559784] |
Chr11:2571364 [GRCh38]
Chr11:2592594 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1256A>C (p.Lys419Thr) |
single nucleotide variant |
not provided [RCV000594450] |
Chr11:2588717 [GRCh38]
Chr11:2609947 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.922-1G>A |
single nucleotide variant |
not provided [RCV000412764] |
Chr11:2583434 [GRCh38]
Chr11:2604664 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843070]|Cardiovascular phenotype [RCV002356840]|Long QT syndrome [RCV001468367] |
Chr11:2587602 [GRCh38]
Chr11:2608832 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1732G>A (p.Glu578Lys) |
single nucleotide variant |
not specified [RCV000412891] |
Chr11:2777032 [GRCh38]
Chr11:2798262 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 |
copy number gain |
See cases [RCV000449417] |
Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala) |
single nucleotide variant |
not provided [RCV000443073] |
Chr11:2570686 [GRCh38]
Chr11:2591916 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.105C>A (p.Pro35=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411296]|Long QT syndrome [RCV000534159]|not provided [RCV001718838]|not specified [RCV003235207] |
Chr11:2445203 [GRCh38]
Chr11:2466433 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.612C>T (p.Ile204=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356526]|Long QT syndrome [RCV000631871]|not provided [RCV000438019] |
Chr11:2571332 [GRCh38]
Chr11:2592562 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.780+11C>T |
single nucleotide variant |
Long QT syndrome [RCV002061410]|not specified [RCV000445326] |
Chr11:2572120 [GRCh38]
Chr11:2593350 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1383T>C (p.Tyr461=) |
single nucleotide variant |
Long QT syndrome [RCV000546961]|not specified [RCV000417865] |
Chr11:2588844 [GRCh38]
Chr11:2610074 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.129C>T (p.Gly43=) |
single nucleotide variant |
Long QT syndrome [RCV001433151]|not specified [RCV000441889] |
Chr11:2445227 [GRCh38]
Chr11:2466457 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002502473]|Cardiac arrhythmia [RCV001841289]|Cardiovascular phenotype [RCV000618701]|Long QT syndrome [RCV000529652]|not provided [RCV001810889]|not specified [RCV000418035] |
Chr11:2588793 [GRCh38]
Chr11:2610023 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.999T>G (p.Ser333=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841332]|Cardiovascular phenotype [RCV002379377]|Long QT syndrome [RCV000555327]|not provided [RCV000994550] |
Chr11:2583512 [GRCh38]
Chr11:2604742 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.297G>C (p.Pro99=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436343]|Long QT syndrome [RCV001494369]|not specified [RCV000418337] |
Chr11:2445395 [GRCh38]
Chr11:2466625 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+19G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003959896]|Long QT syndrome [RCV002062453]|not specified [RCV000438530] |
Chr11:2662100 [GRCh38]
Chr11:2683330 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.624C>T (p.Ala208=) |
single nucleotide variant |
Long QT syndrome [RCV002522664]|not specified [RCV000418668] |
Chr11:2571344 [GRCh38]
Chr11:2592574 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1656C>T (p.Leu552=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402123]|Long QT syndrome [RCV001398899]|not specified [RCV000428288] |
Chr11:2776025 [GRCh38]
Chr11:2797255 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841323]|Long QT syndrome [RCV002062798]|not provided [RCV000428327] |
Chr11:2847907 [GRCh38]
Chr11:2869137 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.387-18C>T |
single nucleotide variant |
Long QT syndrome [RCV002521526]|not specified [RCV000442457] |
Chr11:2527910 [GRCh38]
Chr11:2549140 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.478-20G>A |
single nucleotide variant |
Long QT syndrome [RCV002058902]|not specified [RCV000442539] |
Chr11:2570608 [GRCh38]
Chr11:2591838 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.802A>G (p.Ile268Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841303]|Long QT syndrome [RCV001865326]|not provided [RCV000442655] |
Chr11:2572867 [GRCh38]
Chr11:2594097 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.672G>A (p.Thr224=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841321]|Long QT syndrome [RCV001502218]|not provided [RCV001703863] |
Chr11:2571392 [GRCh38]
Chr11:2592622 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411325]|Long QT syndrome [RCV003532101]|not specified [RCV000421551] |
Chr11:2847778 [GRCh38]
Chr11:2869008 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.705C>T (p.Ile235=) |
single nucleotide variant |
not specified [RCV000425060] |
Chr11:2572034 [GRCh38]
Chr11:2593264 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1589A>C (p.Gln530Pro) |
single nucleotide variant |
Long QT syndrome [RCV001851087]|not provided [RCV000432094] |
Chr11:2768918 [GRCh38]
Chr11:2790148 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386+16215C>T |
single nucleotide variant |
not specified [RCV000432286] |
Chr11:2461699 [GRCh38]
Chr11:2482929 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.921+7C>T |
single nucleotide variant |
Long QT syndrome [RCV000631873]|not specified [RCV000435631] |
Chr11:2572993 [GRCh38]
Chr11:2594223 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.386+14C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001107835]|Jervell and Lange-Nielsen syndrome 1 [RCV001107836]|Long QT syndrome 1 [RCV001102598]|Long QT syndrome [RCV002061409]|Short QT syndrome type 2 [RCV001102599]|not provided [RCV000726997]|not specified [RCV000422020] |
Chr11:2445498 [GRCh38]
Chr11:2466728 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841331]|Cardiovascular phenotype [RCV002411396]|Long QT syndrome [RCV002060007]|not specified [RCV000425363] |
Chr11:2847856 [GRCh38]
Chr11:2869086 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591731]|Cardiovascular phenotype [RCV002348165]|Long QT syndrome [RCV002061648]|not specified [RCV000436008] |
Chr11:2570702 [GRCh38]
Chr11:2591932 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1795-17T>C |
single nucleotide variant |
not specified [RCV000419532] |
Chr11:2847750 [GRCh38]
Chr11:2868980 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1119A>G (p.Ser373=) |
single nucleotide variant |
not specified [RCV000439763] |
Chr11:2585298 [GRCh38]
Chr11:2606528 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.159C>T (p.Pro53=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402133]|Long QT syndrome [RCV002061581]|not provided [RCV000874174] |
Chr11:2445257 [GRCh38]
Chr11:2466487 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841306]|Cardiovascular phenotype [RCV000617260]|Long QT syndrome [RCV000865787]|not specified [RCV000439906] |
Chr11:2572869 [GRCh38]
Chr11:2594099 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.922-18C>T |
single nucleotide variant |
Long QT syndrome [RCV003532117]|not specified [RCV000436578] |
Chr11:2583417 [GRCh38]
Chr11:2604647 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.957G>T (p.Val319=) |
single nucleotide variant |
not specified [RCV000426402] |
Chr11:2583470 [GRCh38]
Chr11:2604700 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.605-18C>G |
single nucleotide variant |
Long QT syndrome [RCV002063580]|not specified [RCV000444096] |
Chr11:2571307 [GRCh38]
Chr11:2592537 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter) |
single nucleotide variant |
not provided [RCV000433921] |
Chr11:2572908 [GRCh38]
Chr11:2594138 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418339]|Long QT syndrome [RCV001205787]|not provided [RCV000442048] |
Chr11:2572862 [GRCh38]
Chr11:2594092 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile) |
single nucleotide variant |
Short QT syndrome type 2 [RCV000417068] |
Chr11:2572900 [GRCh38]
Chr11:2594130 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002506144]|Cardiac arrhythmia [RCV001841366]|Cardiovascular phenotype [RCV002393183]|Long QT syndrome [RCV001085697]|not provided [RCV000829161] |
Chr11:2661998 [GRCh38]
Chr11:2683228 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.38A>G (p.Lys13Arg) |
single nucleotide variant |
Long QT syndrome [RCV000464010] |
Chr11:2445136 [GRCh38]
Chr11:2466366 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter) |
single nucleotide variant |
Long QT syndrome [RCV000464076]|not provided [RCV000786153] |
Chr11:2587616 [GRCh38]
Chr11:2608846 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.490GTG[3] (p.Val165_Phe166insVal) |
microsatellite |
Long QT syndrome [RCV000465460] |
Chr11:2570637..2570638 [GRCh38]
Chr11:2591867..2591868 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329140]|Long QT syndrome [RCV001039538]|not provided [RCV000482770]|not specified [RCV001248899] |
Chr11:2527978 [GRCh38]
Chr11:2549208 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NC_000011.10:g.(?_2775960)_(2777032_?)del |
deletion |
Long QT syndrome [RCV000466514] |
Chr11:2775960..2777032 [GRCh38]
Chr11:2797190..2798262 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro) |
single nucleotide variant |
Long QT syndrome [RCV000467059] |
Chr11:2572912 [GRCh38]
Chr11:2594142 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro) |
single nucleotide variant |
Long QT syndrome [RCV000467468] |
Chr11:2572883 [GRCh38]
Chr11:2594113 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1236C>T (p.Pro412=) |
single nucleotide variant |
Long QT syndrome [RCV001444369] |
Chr11:2587677 [GRCh38]
Chr11:2608907 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.144C>G (p.Gly48=) |
single nucleotide variant |
Long QT syndrome [RCV001468784] |
Chr11:2445242 [GRCh38]
Chr11:2466472 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1165TCC[3] (p.Ser390_Thr391insSer) |
microsatellite |
Cardiovascular phenotype [RCV002329141]|not provided [RCV000485179] |
Chr11:2587604..2587605 [GRCh38]
Chr11:2608834..2608835 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.10:g.(?_2585212)_(2587692_?)del |
deletion |
Long QT syndrome [RCV000470447] |
Chr11:2585212..2587692 [GRCh38]
Chr11:2606442..2608922 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841364]|Long QT syndrome [RCV000470478] |
Chr11:2662013 [GRCh38]
Chr11:2683243 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV003224284]|Long QT syndrome [RCV000470657]|not provided [RCV001558264] |
Chr11:2572964 [GRCh38]
Chr11:2594194 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379420]|Long QT syndrome [RCV000470879] |
Chr11:2583538 [GRCh38]
Chr11:2604768 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe) |
single nucleotide variant |
Long QT syndrome [RCV000471238] |
Chr11:2572050 [GRCh38]
Chr11:2593280 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.609C>T (p.Leu203=) |
single nucleotide variant |
Long QT syndrome [RCV001474096] |
Chr11:2571329 [GRCh38]
Chr11:2592559 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) |
microsatellite |
Long QT syndrome [RCV000631616]|not provided [RCV000484720] |
Chr11:2528005..2528006 [GRCh38]
Chr11:2549235..2549236 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) |
duplication |
Cardiovascular phenotype [RCV002356776]|Long QT syndrome [RCV000806220]|not provided [RCV000484838] |
Chr11:2445478..2445479 [GRCh38]
Chr11:2466708..2466709 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter) |
single nucleotide variant |
Long QT syndrome [RCV000472268] |
Chr11:2585225 [GRCh38]
Chr11:2606455 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu) |
indel |
Long QT syndrome [RCV000472738] |
Chr11:2572846..2572847 [GRCh38]
Chr11:2594076..2594077 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104624]|Cardiac arrhythmia [RCV001841365]|Cardiovascular phenotype [RCV002367581]|Jervell and Lange-Nielsen syndrome 1 [RCV001104622]|Long QT syndrome 1 [RCV001104621]|Long QT syndrome [RCV001438937]|Short QT syndrome type 2 [RCV001104623]|not specified [RCV000780366] |
Chr11:2571368 [GRCh38]
Chr11:2592598 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs) |
duplication |
not provided [RCV000485081] |
Chr11:2445231..2445232 [GRCh38]
Chr11:2466461..2466462 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1761G>A (p.Thr587=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841367]|Cardiovascular phenotype [RCV002411526]|Long QT syndrome [RCV000475415] |
Chr11:2778004 [GRCh38]
Chr11:2799234 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.478-20_478-19delinsTCAAGG |
indel |
not specified [RCV000486334] |
Chr11:2570608..2570609 [GRCh38]
Chr11:2591838..2591839 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer) |
deletion |
Long QT syndrome [RCV000477059] |
Chr11:2778026 [GRCh38]
Chr11:2799256 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.701A>T (p.Gln234Leu) |
single nucleotide variant |
Long QT syndrome [RCV000477123] |
Chr11:2572030 [GRCh38]
Chr11:2593260 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.657dup (p.Gln220fs) |
duplication |
not provided [RCV000523415] |
Chr11:2571373..2571374 [GRCh38]
Chr11:2592603..2592604 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.622del (p.Ala208fs) |
deletion |
not provided [RCV000486193] |
Chr11:2571341 [GRCh38]
Chr11:2592571 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) |
deletion |
Cardiovascular phenotype [RCV002446944]|Long QT syndrome [RCV001248259]|not provided [RCV000486506] |
Chr11:2572915..2572917 [GRCh38]
Chr11:2594145..2594147 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NC_000011.10:g.(?_2570628)_(2572986_?)del |
deletion |
Long QT syndrome [RCV000456629] |
Chr11:2570628..2572986 [GRCh38]
Chr11:2591858..2594216 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NC_000011.10:g.(?_2583435)_(2583545_?)del |
deletion |
Long QT syndrome [RCV000456847] |
Chr11:2583435..2583545 [GRCh38]
Chr11:2604665..2604775 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002502613]|Atrial fibrillation, familial, 3 [RCV003227751]|Cardiac arrhythmia [RCV001841346]|Cardiovascular phenotype [RCV003372716]|Long QT syndrome 1 [RCV001250549]|Long QT syndrome [RCV000457132]|not provided [RCV003736774] |
Chr11:2570656 [GRCh38]
Chr11:2591886 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620671]|Long QT syndrome [RCV001856813]|not provided [RCV000479776] |
Chr11:2445129 [GRCh38]
Chr11:2466359 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.200del (p.Pro67fs) |
deletion |
Long QT syndrome [RCV000458842] |
Chr11:2445295 [GRCh38]
Chr11:2466525 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter) |
single nucleotide variant |
Long QT syndrome [RCV000459171] |
Chr11:2572062 [GRCh38]
Chr11:2593292 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs) |
duplication |
Long QT syndrome [RCV000459335]|not provided [RCV003126742] |
Chr11:2847865..2847866 [GRCh38]
Chr11:2869095..2869096 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs) |
deletion |
Long QT syndrome 1 [RCV003319353]|Long QT syndrome [RCV000460244] |
Chr11:2572069..2572078 [GRCh38]
Chr11:2593299..2593308 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350108]|not provided [RCV000498958] |
Chr11:2570706 [GRCh38]
Chr11:2591936 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1325del (p.His442fs) |
deletion |
Long QT syndrome 1 [RCV000496806] |
Chr11:2588786 [GRCh38]
Chr11:2610016 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly) |
single nucleotide variant |
Long QT syndrome 1 [RCV000497356]|Long QT syndrome [RCV001856801] |
Chr11:2776991 [GRCh38]
Chr11:2798221 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV000763731]|Brugada syndrome [RCV000498969]|Cardiac arrhythmia [RCV001841402]|Cardiovascular phenotype [RCV003362801]|Long QT syndrome [RCV001856926]|not provided [RCV001591130]|not specified [RCV001002570] |
Chr11:2847857 [GRCh38]
Chr11:2869087 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12 |
pathogenic |
| NM_000218.3(KCNQ1):c.374A>G (p.Tyr125Cys) |
single nucleotide variant |
not provided [RCV000494625] |
Chr11:2445472 [GRCh38]
Chr11:2466702 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.523C>T (p.Leu175Phe) |
single nucleotide variant |
Long QT syndrome 1 [RCV000496010] |
Chr11:2570673 [GRCh38]
Chr11:2591903 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1732+5del |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV000600343] |
Chr11:2777035 [GRCh38]
Chr11:2798265 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1515-2_1515-1del |
deletion |
Long QT syndrome [RCV000698644] |
Chr11:2768842..2768843 [GRCh38]
Chr11:2790072..2790073 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1030G>A (p.Ala344Thr) |
single nucleotide variant |
Long QT syndrome [RCV001851477]|not provided [RCV000523507] |
Chr11:2583543 [GRCh38]
Chr11:2604773 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_000218.3(KCNQ1):c.840G>T (p.Val280=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591743]|Cardiovascular phenotype [RCV002448625]|Long QT syndrome [RCV000560430] |
Chr11:2572905 [GRCh38]
Chr11:2594135 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1768G>C (p.Ala590Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617591] |
Chr11:2778011 [GRCh38]
Chr11:2799241 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys) |
single nucleotide variant |
not provided [RCV000578700] |
Chr11:2445100 [GRCh38]
Chr11:2466330 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser) |
single nucleotide variant |
Long QT syndrome 1 [RCV000625723] |
Chr11:2583447 [GRCh38]
Chr11:2604677 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
Long QT syndrome 1 [RCV000590986] |
Chr11:2445103 [GRCh38]
Chr11:2466333 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841491]|Cardiovascular phenotype [RCV002368032]|Long QT syndrome [RCV000863027]|not provided [RCV001696966]|not specified [RCV000605366] |
Chr11:2571395 [GRCh38]
Chr11:2592625 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841788]|Cardiovascular phenotype [RCV000621426]|Long QT syndrome [RCV002066923]|not provided [RCV001619810] |
Chr11:2588817 [GRCh38]
Chr11:2610047 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1733-16G>A |
single nucleotide variant |
Long QT syndrome [RCV002066781]|not specified [RCV000605864] |
Chr11:2777960 [GRCh38]
Chr11:2799190 [GRCh37]
Chr11:11p15.5 |
likely benign |
| GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) |
copy number gain |
Silver-Russell syndrome 1 [RCV000767567] |
Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3 |
pathogenic |
| NM_000218.3(KCNQ1):c.1069C>G (p.Gln357Glu) |
single nucleotide variant |
Long QT syndrome [RCV000631656] |
Chr11:2585248 [GRCh38]
Chr11:2606478 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.590C>A (p.Pro197His) |
single nucleotide variant |
Long QT syndrome [RCV000631715] |
Chr11:2570740 [GRCh38]
Chr11:2591970 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1591-5C>T |
single nucleotide variant |
Long QT syndrome [RCV000631740] |
Chr11:2775955 [GRCh38]
Chr11:2797185 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.684-5C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841829]|Cardiovascular phenotype [RCV002360514]|Long QT syndrome [RCV000631839] |
Chr11:2572008 [GRCh38]
Chr11:2593238 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NC_000011.10:g.(?_2527908)_(2528038_?)del |
deletion |
Long QT syndrome [RCV000631878] |
Chr11:2527908..2528038 [GRCh38]
Chr11:2549138..2549268 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1257del (p.Lys422fs) |
deletion |
Long QT syndrome [RCV000631589]|not provided [RCV000786149] |
Chr11:2588718 [GRCh38]
Chr11:2609948 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1165_1166inv (p.Ser389Asp) |
inversion |
Long QT syndrome [RCV000631565] |
Chr11:2587606..2587607 [GRCh38]
Chr11:2608836..2608837 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.255G>A (p.Val85=) |
single nucleotide variant |
Long QT syndrome [RCV000631731] |
Chr11:2445353 [GRCh38]
Chr11:2466583 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841812]|Long QT syndrome 1 [RCV003319386]|Long QT syndrome [RCV000631552]|not provided [RCV003441979] |
Chr11:2768861 [GRCh38]
Chr11:2790091 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841816]|Cardiovascular phenotype [RCV002388007]|Long QT syndrome [RCV000631635]|not specified [RCV003323647] |
Chr11:2588849 [GRCh38]
Chr11:2610079 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1941C>T (p.Ser647=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413801]|Long QT syndrome [RCV000631761] |
Chr11:2847913 [GRCh38]
Chr11:2869143 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591764]|Cardiovascular phenotype [RCV003352948]|Long QT syndrome [RCV000631866]|not provided [RCV001811125] |
Chr11:2588847 [GRCh38]
Chr11:2610077 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841804]|Cardiovascular phenotype [RCV000618009]|Long QT syndrome [RCV001208025] |
Chr11:2572059 [GRCh38]
Chr11:2593289 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.-24del |
deletion |
not specified [RCV000607582] |
Chr11:2445074 [GRCh38]
Chr11:2466304 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+9C>A |
single nucleotide variant |
Long QT syndrome [RCV001401419]|not specified [RCV000602505] |
Chr11:2445493 [GRCh38]
Chr11:2466723 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1719C>T (p.Phe573=) |
single nucleotide variant |
Long QT syndrome [RCV001446485]|not specified [RCV000614972] |
Chr11:2777019 [GRCh38]
Chr11:2798249 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.525C>T (p.Leu175=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841819]|Long QT syndrome [RCV000631732] |
Chr11:2570675 [GRCh38]
Chr11:2591905 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1794+10C>G |
single nucleotide variant |
Long QT syndrome [RCV000631737] |
Chr11:2778047 [GRCh38]
Chr11:2799277 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1033-5C>G |
single nucleotide variant |
Cardiac arrhythmia [RCV003591763]|Cardiovascular phenotype [RCV002388012]|Long QT syndrome [RCV000631828] |
Chr11:2585207 [GRCh38]
Chr11:2606437 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.985G>A (p.Ala329Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620557]|Long QT syndrome [RCV001855262] |
Chr11:2583498 [GRCh38]
Chr11:2604728 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002476365]|Cardiac arrhythmia [RCV001841774]|Cardiovascular phenotype [RCV002395620]|Long QT syndrome [RCV000870181]|not specified [RCV000612614] |
Chr11:2662025 [GRCh38]
Chr11:2683255 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1733-3T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001841775]|Cardiovascular phenotype [RCV002404693]|Long QT syndrome [RCV001317641]|not provided [RCV001719074] |
Chr11:2777973 [GRCh38]
Chr11:2799203 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.324C>T (p.Gly108=) |
single nucleotide variant |
Long QT syndrome [RCV003647784]|not specified [RCV000607065] |
Chr11:2445422 [GRCh38]
Chr11:2466652 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) |
deletion |
Abnormality of the cardiovascular system [RCV001814172]|Jervell and Lange-Nielsen syndrome 1 [RCV000625528] |
Chr11:2572061..2572062 [GRCh38]
Chr11:2593291..2593292 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618662]|KCNQ1-related condition [RCV003892396]|Long QT syndrome [RCV001463968] |
Chr11:2847799 [GRCh38]
Chr11:2869029 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) |
deletion |
Cardiovascular phenotype [RCV000619078]|Long QT syndrome [RCV000814151]|not provided [RCV001591385] |
Chr11:2570665..2570675 [GRCh38]
Chr11:2591895..2591905 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1252-15T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001841509]|Long QT syndrome [RCV002531590]|not specified [RCV000616260] |
Chr11:2588698 [GRCh38]
Chr11:2609928 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.175C>G (p.Pro59Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619347] |
Chr11:2445273 [GRCh38]
Chr11:2466503 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1008C>T (p.Ala336=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841505]|Long QT syndrome [RCV002064030]|not specified [RCV000613301] |
Chr11:2583521 [GRCh38]
Chr11:2604751 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.604+16C>T |
single nucleotide variant |
Long QT syndrome [RCV002062186]|not specified [RCV000616567] |
Chr11:2570770 [GRCh38]
Chr11:2592000 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.181C>A (p.Pro61Thr) |
single nucleotide variant |
not provided [RCV001770544]|not specified [RCV000616867] |
Chr11:2445279 [GRCh38]
Chr11:2466509 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1023G>A (p.Ala341=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841510]|Cardiovascular phenotype [RCV002377297]|Long QT syndrome [RCV002064163]|not specified [RCV000608776] |
Chr11:2583536 [GRCh38]
Chr11:2604766 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu) |
single nucleotide variant |
Long QT syndrome [RCV003318431] |
Chr11:2768908 [GRCh38]
Chr11:2790138 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.*19G>A |
single nucleotide variant |
Long QT syndrome [RCV003318451] |
Chr11:2848022 [GRCh38]
Chr11:2869252 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1591-4G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841496]|Cardiovascular phenotype [RCV002404620]|Long QT syndrome [RCV001459470]|not provided [RCV001712613]|not specified [RCV000603846] |
Chr11:2775956 [GRCh38]
Chr11:2797186 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003311291]|Long QT syndrome [RCV003647974] |
Chr11:2587612 [GRCh38]
Chr11:2608842 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1295C>T (p.Thr432Ile) |
single nucleotide variant |
not specified [RCV000611912] |
Chr11:2588756 [GRCh38]
Chr11:2609986 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841420]|Cardiovascular phenotype [RCV003159741]|Long QT syndrome [RCV000536336] |
Chr11:2775965 [GRCh38]
Chr11:2797195 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.713_719del (p.Met238fs) |
deletion |
Cardiovascular phenotype [RCV003311290] |
Chr11:2572041..2572047 [GRCh38]
Chr11:2593271..2593277 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1197C>T (p.Ala399=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003311293]|Long QT syndrome [RCV003777259] |
Chr11:2587638 [GRCh38]
Chr11:2608868 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.183C>T (p.Pro61=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003311294] |
Chr11:2445281 [GRCh38]
Chr11:2466511 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002499001]|Cardiac arrhythmia [RCV001841801]|Cardiovascular phenotype [RCV000619748]|Long QT syndrome 1 [RCV002470932]|Long QT syndrome [RCV000690171] |
Chr11:2768849 [GRCh38]
Chr11:2790079 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.729C>T (p.Arg243=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841822]|Long QT syndrome [RCV000631773] |
Chr11:2572058 [GRCh38]
Chr11:2593288 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.351C>T (p.Pro117=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618645]|Long QT syndrome [RCV002066947] |
Chr11:2445449 [GRCh38]
Chr11:2466679 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.507G>A (p.Thr169=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841490]|Long QT syndrome [RCV001059698]|not specified [RCV000602003] |
Chr11:2570657 [GRCh38]
Chr11:2591887 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.510del (p.Glu170fs) |
deletion |
Cardiovascular phenotype [RCV000620423] |
Chr11:2570660 [GRCh38]
Chr11:2591890 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619330]|Long QT syndrome [RCV001043791] |
Chr11:2572967 [GRCh38]
Chr11:2594197 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 |
copy number gain |
See cases [RCV000512225] |
Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3 |
pathogenic |
| GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 |
copy number gain |
See cases [RCV000512477] |
Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13 |
pathogenic |
| NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841404]|Cardiovascular phenotype [RCV002404324]|Long QT syndrome [RCV003318379]|not provided [RCV000513565] |
Chr11:2775967 [GRCh38]
Chr11:2797197 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617281] |
Chr11:2847794 [GRCh38]
Chr11:2869024 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.192_200dup (p.Ser66_Ala68dup) |
duplication |
Long QT syndrome [RCV000699016] |
Chr11:2445285..2445286 [GRCh38]
Chr11:2466515..2466516 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del |
deletion |
Long QT syndrome 1 [RCV000790439] |
Chr11:2768843..2778038 [GRCh38]
Chr11:2790073..2799268 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002493227]|Cardiac arrhythmia [RCV001841870]|Cardiovascular phenotype [RCV002343532]|Long QT syndrome [RCV000701111]|not specified [RCV000825352] |
Chr11:2570724 [GRCh38]
Chr11:2591954 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.2(KCNQ1):c.1258del (p.Lys422Serfs) |
deletion |
not provided [RCV000681958] |
Chr11:2588719 [GRCh38]
Chr11:2609949 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) |
single nucleotide variant |
Long QT syndrome 1 [RCV001258362]|Long QT syndrome [RCV003647798]|Prolonged QT interval [RCV000678458] |
Chr11:2572850 [GRCh38]
Chr11:2594080 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1996A>C (p.Thr666Pro) |
single nucleotide variant |
Long QT syndrome 1 [RCV000678940] |
Chr11:2847968 [GRCh38]
Chr11:2869198 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) |
single nucleotide variant |
Long QT syndrome 1 [RCV000678948]|Long QT syndrome [RCV000692678]|not provided [RCV003886428] |
Chr11:2445453 [GRCh38]
Chr11:2466683 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) |
single nucleotide variant |
Long QT syndrome 1 [RCV002298736]|Long QT syndrome [RCV000678813] |
Chr11:2583545 [GRCh38]
Chr11:2604775 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 |
copy number gain |
not provided [RCV000683372] |
Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1 |
pathogenic |
| GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 |
copy number gain |
not provided [RCV000683369] |
Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1251+5G>A |
single nucleotide variant |
Long QT syndrome [RCV000685611] |
Chr11:2587697 [GRCh38]
Chr11:2608927 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.274T>C (p.Ser92Pro) |
single nucleotide variant |
Long QT syndrome [RCV000700092] |
Chr11:2445372 [GRCh38]
Chr11:2466602 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs) |
deletion |
Long QT syndrome [RCV000691481]|not provided [RCV002282330] |
Chr11:2572062..2572071 [GRCh38]
Chr11:2593292..2593301 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1286A>G (p.Asn429Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165891]|Long QT syndrome [RCV000703062] |
Chr11:2588747 [GRCh38]
Chr11:2609977 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.922-2A>G |
single nucleotide variant |
Long QT syndrome [RCV000706798] |
Chr11:2583433 [GRCh38]
Chr11:2604663 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.605-1G>C |
single nucleotide variant |
Long QT syndrome [RCV000695220] |
Chr11:2571324 [GRCh38]
Chr11:2592554 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp) |
single nucleotide variant |
Long QT syndrome [RCV000704706] |
Chr11:2587579 [GRCh38]
Chr11:2608809 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.114G>A (p.Leu38=) |
single nucleotide variant |
Long QT syndrome [RCV000695569] |
Chr11:2445212 [GRCh38]
Chr11:2466442 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.317T>A (p.Val106Asp) |
single nucleotide variant |
Long QT syndrome [RCV000695733] |
Chr11:2445415 [GRCh38]
Chr11:2466645 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del) |
microsatellite |
Long QT syndrome [RCV000705141] |
Chr11:2583443..2583445 [GRCh38]
Chr11:2604673..2604675 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg) |
single nucleotide variant |
Long QT syndrome [RCV000691158] |
Chr11:2777002 [GRCh38]
Chr11:2798232 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NC_000011.10:g.(?_2583415)_(2588874_?)del |
deletion |
Long QT syndrome [RCV000708180] |
Chr11:2583415..2588874 [GRCh38]
Chr11:2604645..2610104 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1165T>G (p.Ser389Ala) |
single nucleotide variant |
Long QT syndrome [RCV000696966] |
Chr11:2587606 [GRCh38]
Chr11:2608836 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_2591838)_(2594236_?)dup |
duplication |
Long QT syndrome [RCV000708355] |
Chr11:2570608..2573006 [GRCh38]
Chr11:2591838..2594236 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.684-2A>C |
single nucleotide variant |
Long QT syndrome [RCV000694551] |
Chr11:2572011 [GRCh38]
Chr11:2593241 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1733-7C>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001841864]|Long QT syndrome [RCV000697096]|not provided [RCV001571380] |
Chr11:2777969 [GRCh38]
Chr11:2799199 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1524del (p.Glu508fs) |
deletion |
Long QT syndrome 1 [RCV000714903] |
Chr11:2768852 [GRCh38]
Chr11:2790082 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.682A>T (p.Arg228Trp) |
single nucleotide variant |
Long QT syndrome [RCV003104222] |
Chr11:2571402 [GRCh38]
Chr11:2592632 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.387-17G>A |
single nucleotide variant |
Long QT syndrome [RCV002068755]|not provided [RCV001615107]|not specified [RCV001000621] |
Chr11:2527911 [GRCh38]
Chr11:2549141 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu) |
single nucleotide variant |
Long QT syndrome [RCV001208048]|not specified [RCV001001261] |
Chr11:2585305 [GRCh38]
Chr11:2606535 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5(chr11:2617782-2680815)x3 |
copy number gain |
not provided [RCV000737391] |
Chr11:2617782..2680815 [GRCh37]
Chr11:11p15.5 |
benign |
| GRCh37/hg19 11p15.4(chr11:2870165-2891965)x1 |
copy number loss |
not provided [RCV000737392] |
Chr11:2870165..2891965 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.1092C>T (p.Phe364=) |
single nucleotide variant |
Long QT syndrome [RCV002539583]|not provided [RCV001644371] |
Chr11:2585271 [GRCh38]
Chr11:2606501 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1685+146G>C |
single nucleotide variant |
not provided [RCV001644409] |
Chr11:2776200 [GRCh38]
Chr11:2797430 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.123G>A (p.Ala41=) |
single nucleotide variant |
Long QT syndrome [RCV000874577] |
Chr11:2445221 [GRCh38]
Chr11:2466451 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.10:g.2444990del |
deletion |
not provided [RCV001611289] |
Chr11:2444985 [GRCh38]
Chr11:2466215 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.306G>A (p.Ala102=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444957]|Long QT syndrome [RCV000875361] |
Chr11:2445404 [GRCh38]
Chr11:2466634 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.387-51T>C |
single nucleotide variant |
not provided [RCV001693163] |
Chr11:2527877 [GRCh38]
Chr11:2549107 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842019]|Cardiovascular phenotype [RCV002409012]|Long QT syndrome [RCV000861141] |
Chr11:2847853 [GRCh38]
Chr11:2869083 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1251+209C>T |
single nucleotide variant |
not provided [RCV001585461] |
Chr11:2587901 [GRCh38]
Chr11:2609131 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-30663A>G |
single nucleotide variant |
not provided [RCV003312187] |
Chr11:2631298 [GRCh38]
Chr11:2652528 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter) |
single nucleotide variant |
not provided [RCV000760340] |
Chr11:2572846 [GRCh38]
Chr11:2594076 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1514+36239G>T |
single nucleotide variant |
not provided [RCV003312193] |
Chr11:2698320 [GRCh38]
Chr11:2719550 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter) |
single nucleotide variant |
Long QT syndrome 1 [RCV003319418]|Long QT syndrome [RCV000811148]|not provided [RCV000760553] |
Chr11:2585305 [GRCh38]
Chr11:2606535 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1033-282C>T |
single nucleotide variant |
not provided [RCV001577071] |
Chr11:2584930 [GRCh38]
Chr11:2606160 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1370C>T (p.Ser457Phe) |
single nucleotide variant |
not provided [RCV001550960] |
Chr11:2588831 [GRCh38]
Chr11:2610061 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1686-9_1686-7del |
deletion |
not provided [RCV001572576] |
Chr11:2776975..2776977 [GRCh38]
Chr11:2798205..2798207 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+30401G>T |
single nucleotide variant |
not provided [RCV003312184] |
Chr11:2619255 [GRCh38]
Chr11:2640485 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.160_161insATCGCGCCC (p.Ile54delinsAsnArgAlaLeu) |
insertion |
not provided [RCV001577934] |
Chr11:2445258..2445259 [GRCh38]
Chr11:2466488..2466489 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1709C>T (p.Pro570Leu) |
single nucleotide variant |
Long QT syndrome 1 [RCV000790442] |
Chr11:2777009 [GRCh38]
Chr11:2798239 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.10:g.(?_2847757)_(2848935_?)del |
deletion |
Long QT syndrome [RCV001031160] |
Chr11:2868987..2870165 [GRCh37]
Chr11:11p15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1722C>T (p.Ile574=) |
single nucleotide variant |
not provided [RCV001690407] |
Chr11:2777022 [GRCh38]
Chr11:2798252 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+8160A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003975849]|not provided [RCV001666044] |
Chr11:2670241 [GRCh38]
Chr11:2691471 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.605-113G>A |
single nucleotide variant |
not provided [RCV001576332] |
Chr11:2571212 [GRCh38]
Chr11:2592442 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.10:g.(?_2527918)_(2848935_?)del |
deletion |
Long QT syndrome [RCV001032179] |
Chr11:2549148..2870165 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001105019]|Cardiac arrhythmia [RCV001842570]|Jervell and Lange-Nielsen syndrome 1 [RCV001105017]|Long QT syndrome 1 [RCV001105018]|Long QT syndrome [RCV000926516]|Short QT syndrome type 2 [RCV001105016] |
Chr11:2847802 [GRCh38]
Chr11:2869032 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1335C>T (p.Cys445=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169157]|Long QT syndrome [RCV000869351] |
Chr11:2588796 [GRCh38]
Chr11:2610026 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1263A>G (p.Lys421=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842560]|Long QT syndrome [RCV000904511] |
Chr11:2588724 [GRCh38]
Chr11:2609954 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591796]|Long QT syndrome [RCV001447894] |
Chr11:2847847 [GRCh38]
Chr11:2869077 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591806]|Cardiovascular phenotype [RCV002409185]|Long QT syndrome [RCV002065991] |
Chr11:2847910 [GRCh38]
Chr11:2869140 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1728C>T (p.Val576=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409040]|Long QT syndrome [RCV003532290] |
Chr11:2777028 [GRCh38]
Chr11:2798258 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.177A>G (p.Pro59=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400018]|Long QT syndrome [RCV001476897] |
Chr11:2445275 [GRCh38]
Chr11:2466505 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.363A>G (p.Lys121=) |
single nucleotide variant |
not provided [RCV000922160] |
Chr11:2445461 [GRCh38]
Chr11:2466691 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+9C>A |
single nucleotide variant |
Long QT syndrome [RCV001434524] |
Chr11:2588863 [GRCh38]
Chr11:2610093 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs) |
deletion |
Long QT syndrome 1 [RCV001089525] |
Chr11:2768870..2768879 [GRCh38]
Chr11:2790100..2790109 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_001406838.1(KCNQ1):c.478-12807del |
deletion |
Long QT syndrome 1 [RCV001089527] |
Chr11:2570627 [GRCh38]
Chr11:2591857 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1515-3C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841886] |
Chr11:2768841 [GRCh38]
Chr11:2790071 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.939C>T (p.Ile313=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841891]|Cardiovascular phenotype [RCV002370035]|Long QT syndrome [RCV001490041] |
Chr11:2583452 [GRCh38]
Chr11:2604682 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.192T>C (p.Pro64=) |
single nucleotide variant |
Long QT syndrome [RCV001491776]|not specified [RCV000825177] |
Chr11:2445290 [GRCh38]
Chr11:2466520 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser) |
single nucleotide variant |
Long QT syndrome [RCV001858386]|not specified [RCV000825357] |
Chr11:2847860 [GRCh38]
Chr11:2869090 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001105968]|Cardiac arrhythmia [RCV001841898]|Cardiovascular phenotype [RCV002386338]|Jervell and Lange-Nielsen syndrome 1 [RCV001105971]|Long QT syndrome 1 [RCV001105970]|Long QT syndrome [RCV001071913]|Short QT syndrome type 2 [RCV001105969]|not provided [RCV001772029] |
Chr11:2588836 [GRCh38]
Chr11:2610066 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.176del (p.Pro59fs) |
deletion |
not provided [RCV000786151] |
Chr11:2445271 [GRCh38]
Chr11:2466501 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1591-1G>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000825532]|Long QT syndrome [RCV001388701] |
Chr11:2775959 [GRCh38]
Chr11:2797189 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002487582]|Cardiac arrhythmia [RCV001841903]|Cardiovascular phenotype [RCV002386340]|Long QT syndrome [RCV003532256] |
Chr11:2588838 [GRCh38]
Chr11:2610068 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1256A>G (p.Lys419Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841964] |
Chr11:2588717 [GRCh38]
Chr11:2609947 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1685+2T>C |
single nucleotide variant |
Long QT syndrome 1 [RCV000790441]|not provided [RCV001249429] |
Chr11:2776056 [GRCh38]
Chr11:2797286 [GRCh37]
Chr11:11p15.5 |
pathogenic|not provided |
| NM_000218.3(KCNQ1):c.1394-13_1394-12del |
microsatellite |
Cardiac arrhythmia [RCV001841911]|Long QT syndrome [RCV002067274]|not provided [RCV000829878]|not specified [RCV001700458] |
Chr11:2661945..2661946 [GRCh38]
Chr11:2683175..2683176 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.603C>T (p.Ile201=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841917]|Cardiovascular phenotype [RCV002352283]|Long QT syndrome [RCV001246279] |
Chr11:2570753 [GRCh38]
Chr11:2591983 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841973]|Cardiovascular phenotype [RCV002332570]|Long QT syndrome [RCV002061129]|not provided [RCV003318637]|not specified [RCV000781488] |
Chr11:2527961 [GRCh38]
Chr11:2549191 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1033-12A>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001841920]|Long QT syndrome [RCV002067283]|not provided [RCV001683655]|not specified [RCV003230585] |
Chr11:2585200 [GRCh38]
Chr11:2606430 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.2011G>A (p.Gly671Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841930] |
Chr11:2847983 [GRCh38]
Chr11:2869213 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841931]|Cardiovascular phenotype [RCV002370038]|Long QT syndrome [RCV003532257]|not provided [RCV000827143] |
Chr11:2588742 [GRCh38]
Chr11:2609972 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1128+6G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841944]|Long QT syndrome [RCV001368836] |
Chr11:2585313 [GRCh38]
Chr11:2606543 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.723C>T (p.Val241=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841945]|Long QT syndrome [RCV003532258]|not provided [RCV001592956] |
Chr11:2572052 [GRCh38]
Chr11:2593282 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841967]|Cardiovascular phenotype [RCV002397552]|Long QT syndrome [RCV000807516] |
Chr11:2777020 [GRCh38]
Chr11:2798250 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.880G>A (p.Val294Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841942]|Long QT syndrome [RCV003647805] |
Chr11:2572945 [GRCh38]
Chr11:2594175 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.10:g.2661948_2661949del |
deletion |
not provided [RCV000829878] |
Chr11:11p15.5-15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1498A>C (p.Ile500Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841957] |
Chr11:2662065 [GRCh38]
Chr11:2683295 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002501006]|Cardiac arrhythmia [RCV001841958]|Cardiovascular phenotype [RCV002440609]|Long QT syndrome [RCV001203576]|not provided [RCV001574714] |
Chr11:2585288 [GRCh38]
Chr11:2606518 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1767C>T (p.Gly589=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841963]|Cardiovascular phenotype [RCV002397543]|Long QT syndrome [RCV001049437]|not provided [RCV003392587] |
Chr11:2778010 [GRCh38]
Chr11:2799240 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842011]|Cardiovascular phenotype [RCV002409002]|Long QT syndrome [RCV001427324]|not provided [RCV000827931] |
Chr11:2847910 [GRCh38]
Chr11:2869140 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.495_497del (p.Phe167del) |
deletion |
Long QT syndrome [RCV000810023] |
Chr11:2570644..2570646 [GRCh38]
Chr11:2591874..2591876 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.604+9T>C |
single nucleotide variant |
Long QT syndrome [RCV001479977] |
Chr11:2570763 [GRCh38]
Chr11:2591993 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1251+9C>A |
single nucleotide variant |
Long QT syndrome [RCV000874211] |
Chr11:2587701 [GRCh38]
Chr11:2608931 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1350G>A (p.Glu450=) |
single nucleotide variant |
Long QT syndrome [RCV001418909] |
Chr11:2588811 [GRCh38]
Chr11:2610041 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1770C>A (p.Ala590=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591791]|Long QT syndrome [RCV001426918] |
Chr11:2778013 [GRCh38]
Chr11:2799243 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1197C>A (p.Ala399=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842548]|Cardiovascular phenotype [RCV002336839]|Long QT syndrome [RCV002064734] |
Chr11:2587638 [GRCh38]
Chr11:2608868 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.618C>T (p.Val206=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591792]|Long QT syndrome [RCV001489602] |
Chr11:2571338 [GRCh38]
Chr11:2592568 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.475A>T (p.Met159Leu) |
single nucleotide variant |
Long QT syndrome [RCV000822410] |
Chr11:2528016 [GRCh38]
Chr11:2549246 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1515-218A>G |
single nucleotide variant |
not provided [RCV000831112] |
Chr11:2768626 [GRCh38]
Chr11:2789856 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1611T>C (p.Asp537=) |
single nucleotide variant |
Long QT syndrome [RCV001490591] |
Chr11:2775980 [GRCh38]
Chr11:2797210 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1794+245T>C |
single nucleotide variant |
not provided [RCV000839597] |
Chr11:2778282 [GRCh38]
Chr11:2799512 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841994]|Long QT syndrome [RCV000814406]|not provided [RCV001569183] |
Chr11:2572924 [GRCh38]
Chr11:2594154 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.563G>C (p.Trp188Ser) |
single nucleotide variant |
Long QT syndrome [RCV000797032] |
Chr11:2570713 [GRCh38]
Chr11:2591943 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.781-117G>A |
single nucleotide variant |
not provided [RCV000833142] |
Chr11:2572729 [GRCh38]
Chr11:2593959 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003279119]|Long QT syndrome [RCV000823765]|not provided [RCV001731948] |
Chr11:2572055 [GRCh38]
Chr11:2593285 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NC_000011.10:g.(?_2587560)_(2587702_?)del |
deletion |
Long QT syndrome [RCV000823249] |
Chr11:2587560..2587702 [GRCh38]
Chr11:2608790..2608932 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg) |
single nucleotide variant |
Long QT syndrome [RCV000817822] |
Chr11:2583486 [GRCh38]
Chr11:2604716 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.478-212C>T |
single nucleotide variant |
not provided [RCV000832408] |
Chr11:2570416 [GRCh38]
Chr11:2591646 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter) |
single nucleotide variant |
Long QT syndrome [RCV000821537] |
Chr11:2445149 [GRCh38]
Chr11:2466379 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842007]|Cardiovascular phenotype [RCV002390718]|Long QT syndrome [RCV003117610]|not specified [RCV000825353] |
Chr11:2662065 [GRCh38]
Chr11:2683295 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg) |
single nucleotide variant |
Long QT syndrome [RCV002536047]|not specified [RCV000825354] |
Chr11:2445383 [GRCh38]
Chr11:2466613 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1685+2T>G |
single nucleotide variant |
Congenital long QT syndrome [RCV000825590] |
Chr11:2776056 [GRCh38]
Chr11:2797286 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.683+1G>A |
single nucleotide variant |
Congenital long QT syndrome [RCV000825588]|Long QT syndrome [RCV000806826]|not provided [RCV002251520] |
Chr11:2571404 [GRCh38]
Chr11:2592634 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1515-31C>G |
single nucleotide variant |
not provided [RCV000834939] |
Chr11:2768813 [GRCh38]
Chr11:2790043 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.604+220A>C |
single nucleotide variant |
not provided [RCV000834985] |
Chr11:2570974 [GRCh38]
Chr11:2592204 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer) |
deletion |
Long QT syndrome [RCV000812459]|not provided [RCV001008040] |
Chr11:2572034 [GRCh38]
Chr11:2593264 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln) |
single nucleotide variant |
Autosomal dominant KCNQ1-related disease [RCV000985037]|Cardiovascular phenotype [RCV002354891] |
Chr11:2570736 [GRCh38]
Chr11:2591966 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.524T>C (p.Leu175Pro) |
single nucleotide variant |
Long QT syndrome [RCV000798912] |
Chr11:2570674 [GRCh38]
Chr11:2591904 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386+16519_386+16522del |
deletion |
not provided [RCV000840761] |
Chr11:2462003..2462006 [GRCh38]
Chr11:2483233..2483236 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+15671G>A |
single nucleotide variant |
not provided [RCV000840785] |
Chr11:2461155 [GRCh38]
Chr11:2482385 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1795-298A>G |
single nucleotide variant |
not provided [RCV000840786] |
Chr11:2847469 [GRCh38]
Chr11:2868699 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.1252-311C>T |
single nucleotide variant |
not provided [RCV000840820] |
Chr11:2588402 [GRCh38]
Chr11:2609632 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1101G>A (p.Gln367=) |
single nucleotide variant |
Long QT syndrome [RCV003648687] |
Chr11:2585280 [GRCh38]
Chr11:2606510 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.605-182T>G |
single nucleotide variant |
not provided [RCV000833648] |
Chr11:2571143 [GRCh38]
Chr11:2592373 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.781-107G>A |
single nucleotide variant |
not provided [RCV000833801] |
Chr11:2572739 [GRCh38]
Chr11:2593969 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.684-234C>T |
single nucleotide variant |
not provided [RCV000838089] |
Chr11:2571779 [GRCh38]
Chr11:2593009 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1732+186A>G |
single nucleotide variant |
not provided [RCV000831113] |
Chr11:2777218 [GRCh38]
Chr11:2798448 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1795-119T>C |
single nucleotide variant |
not provided [RCV000831114] |
Chr11:2847648 [GRCh38]
Chr11:2868878 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.1686-49C>T |
single nucleotide variant |
not provided [RCV000834762] |
Chr11:2776937 [GRCh38]
Chr11:2798167 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1251+248G>A |
single nucleotide variant |
not provided [RCV000838706] |
Chr11:2587940 [GRCh38]
Chr11:2609170 [GRCh37]
Chr11:11p15.5 |
benign |
| NC_000011.10:g.(?_2570608)_(2573006_?)del |
deletion |
Long QT syndrome [RCV000823244] |
Chr11:2570608..2573006 [GRCh38]
Chr11:2591838..2594236 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1923del (p.Cys642fs) |
deletion |
not specified [RCV000825356] |
Chr11:2847893 [GRCh38]
Chr11:2869123 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.477+4C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842009]|Long QT syndrome [RCV002536083]|not provided [RCV000826344] |
Chr11:2528022 [GRCh38]
Chr11:2549252 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.514G>C (p.Val172Leu) |
single nucleotide variant |
Long QT syndrome [RCV000808784] |
Chr11:2570664 [GRCh38]
Chr11:2591894 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386+15841G>A |
single nucleotide variant |
not provided [RCV000840421] |
Chr11:2461325 [GRCh38]
Chr11:2482555 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.478-289_478-254dup |
duplication |
not provided [RCV000840422] |
Chr11:2570329..2570330 [GRCh38]
Chr11:2591559..2591560 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1685+282C>T |
single nucleotide variant |
not provided [RCV000840423] |
Chr11:2776336 [GRCh38]
Chr11:2797566 [GRCh37]
Chr11:11p15.5 |
benign |
| NC_000011.10:g.(?_2775954)_(2777038_?)del |
deletion |
Long QT syndrome [RCV000800044] |
Chr11:2775954..2777038 [GRCh38]
Chr11:2797184..2798268 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.605-24C>T |
single nucleotide variant |
not provided [RCV000833109] |
Chr11:2571301 [GRCh38]
Chr11:2592531 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1252-301T>C |
single nucleotide variant |
not provided [RCV000840756] |
Chr11:2588412 [GRCh38]
Chr11:2609642 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.922-228A>G |
single nucleotide variant |
not provided [RCV000837688] |
Chr11:2583207 [GRCh38]
Chr11:2604437 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.937A>T (p.Ile313Phe) |
single nucleotide variant |
Long QT syndrome [RCV000822437]|not provided [RCV003222147] |
Chr11:2583450 [GRCh38]
Chr11:2604680 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| GRCh37/hg19 11p15.5(chr11:2209396-2520511)x3 |
copy number gain |
not provided [RCV001006373] |
Chr11:2209396..2520511 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter) |
single nucleotide variant |
KCNQ1-Related Disorders [RCV002298855]|Long QT syndrome [RCV001044668] |
Chr11:2572107 [GRCh38]
Chr11:2593337 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.570G>T (p.Arg190=) |
single nucleotide variant |
not provided [RCV000828315] |
Chr11:2570720 [GRCh38]
Chr11:2591950 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.10:g.(?_2583425)_(2583555_?)del |
deletion |
Long QT syndrome [RCV001032005] |
Chr11:2604655..2604785 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) |
single nucleotide variant |
Long QT syndrome [RCV000845367] |
Chr11:2445471 [GRCh38]
Chr11:2466701 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842006]|Cardiovascular phenotype [RCV002399833]|Long QT syndrome [RCV000868615]|not provided [RCV001172044]|not specified [RCV000825176] |
Chr11:2777989 [GRCh38]
Chr11:2799219 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1032+5G>T |
single nucleotide variant |
Long QT syndrome [RCV000794870] |
Chr11:2583550 [GRCh38]
Chr11:2604780 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1128+3G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842577]|Long QT syndrome [RCV001393082] |
Chr11:2585310 [GRCh38]
Chr11:2606540 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-60G>A |
single nucleotide variant |
not provided [RCV000833110] |
Chr11:2588653 [GRCh38]
Chr11:2609883 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.386+16523A>G |
single nucleotide variant |
not provided [RCV000840762] |
Chr11:2462007 [GRCh38]
Chr11:2483237 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+156C>G |
single nucleotide variant |
not provided [RCV000831168] |
Chr11:2662237 [GRCh38]
Chr11:2683467 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1794+102C>G |
single nucleotide variant |
not provided [RCV000831192] |
Chr11:2778139 [GRCh38]
Chr11:2799369 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-41G>C |
single nucleotide variant |
not provided [RCV000835419] |
Chr11:2661920 [GRCh38]
Chr11:2683150 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1251+277A>G |
single nucleotide variant |
not provided [RCV000832739] |
Chr11:2587969 [GRCh38]
Chr11:2609199 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.836T>G (p.Phe279Cys) |
single nucleotide variant |
Long QT syndrome [RCV000821080] |
Chr11:2572901 [GRCh38]
Chr11:2594131 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001107181]|Atrial fibrillation, familial, 3 [RCV002488091]|Cardiovascular phenotype [RCV002327218]|Jervell and Lange-Nielsen syndrome 1 [RCV001107182]|Long QT syndrome 1 [RCV001107183]|Long QT syndrome [RCV001324079]|Short QT syndrome type 2 [RCV001107184]|not provided [RCV000992240] |
Chr11:2445139 [GRCh38]
Chr11:2466369 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer) |
deletion |
not provided [RCV001008058] |
Chr11:2570663 [GRCh38]
Chr11:2591893 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.919G>T (p.Val307Leu) |
single nucleotide variant |
Long QT syndrome [RCV001065918] |
Chr11:2572984 [GRCh38]
Chr11:2594214 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter) |
single nucleotide variant |
KCNQ1-Related Disorders [RCV003336285]|Long QT syndrome [RCV001044364] |
Chr11:2585248 [GRCh38]
Chr11:2606478 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1493C>T (p.Thr498Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843097] |
Chr11:2662060 [GRCh38]
Chr11:2683290 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1590+1G>A |
single nucleotide variant |
Long QT syndrome [RCV001862701]|not provided [RCV001091851] |
Chr11:2768920 [GRCh38]
Chr11:2790150 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002479279]|Long QT syndrome [RCV001045072] |
Chr11:2587591 [GRCh38]
Chr11:2608821 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.501C>T (p.Phe167=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842539]|Cardiovascular phenotype [RCV003307626]|Long QT syndrome [RCV000869595]|not provided [RCV001811524] |
Chr11:2570651 [GRCh38]
Chr11:2591881 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3290A>G |
single nucleotide variant |
Autosomal dominant KCNQ1-related disease [RCV000985027] |
Chr11:2665371 [GRCh38]
Chr11:2686601 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.628A>G (p.Met210Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843143] |
Chr11:2571348 [GRCh38]
Chr11:2592578 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.678C>T (p.Ala226=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843144]|Long QT syndrome [RCV001434971] |
Chr11:2571398 [GRCh38]
Chr11:2592628 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*4G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842625]|KCNQ1-related condition [RCV003898170] |
Chr11:2848007 [GRCh38]
Chr11:2869237 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843184]|Long QT syndrome [RCV001876117] |
Chr11:2571350 [GRCh38]
Chr11:2592580 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843206] |
Chr11:2847900 [GRCh38]
Chr11:2869130 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1926C>A (p.Cys642Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843216] |
Chr11:2847898 [GRCh38]
Chr11:2869128 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002491504]|Cardiac arrhythmia [RCV001842673]|Cardiovascular phenotype [RCV002375064]|Long QT syndrome [RCV003769893] |
Chr11:2587679 [GRCh38]
Chr11:2608909 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1732+1G>A |
single nucleotide variant |
Long QT syndrome [RCV001228784] |
Chr11:2777033 [GRCh38]
Chr11:2798263 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002491830]|Long QT syndrome [RCV001246243]|not provided [RCV003235512] |
Chr11:2847836 [GRCh38]
Chr11:2869066 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414943] |
Chr11:2847834 [GRCh38]
Chr11:2869064 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1764C>T (p.Ile588=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842716]|Long QT syndrome [RCV001434975] |
Chr11:2778007 [GRCh38]
Chr11:2799237 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1379G>A (p.Gly460Asp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842728]|not provided [RCV001773422] |
Chr11:2588840 [GRCh38]
Chr11:2610070 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365980]|Long QT syndrome [RCV001216896] |
Chr11:2445168 [GRCh38]
Chr11:2466398 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.733G>A (p.Gly245Arg) |
single nucleotide variant |
Long QT syndrome [RCV001222321] |
Chr11:2572062 [GRCh38]
Chr11:2593292 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) |
single nucleotide variant |
Long QT syndrome [RCV003318389]|not provided [RCV000845331] |
Chr11:2528008 [GRCh38]
Chr11:2549238 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.584G>C (p.Arg195Pro) |
single nucleotide variant |
Long QT syndrome [RCV000845438] |
Chr11:2570734 [GRCh38]
Chr11:2591964 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1032+2T>C |
single nucleotide variant |
Long QT syndrome 1 [RCV003314678]|Long QT syndrome [RCV001209167] |
Chr11:2583547 [GRCh38]
Chr11:2604777 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1324C>G (p.His442Asp) |
single nucleotide variant |
Long QT syndrome [RCV001238016] |
Chr11:2588785 [GRCh38]
Chr11:2610015 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1207del (p.His403fs) |
deletion |
Long QT syndrome [RCV001241380] |
Chr11:2587647 [GRCh38]
Chr11:2608877 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1694A>C (p.Gln565Pro) |
single nucleotide variant |
Long QT syndrome 1 [RCV003339534]|Long QT syndrome [RCV001210392] |
Chr11:2776994 [GRCh38]
Chr11:2798224 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1664G>T (p.Arg555Leu) |
single nucleotide variant |
Long QT syndrome [RCV001210393] |
Chr11:2776033 [GRCh38]
Chr11:2797263 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843080]|Cardiovascular phenotype [RCV002411684]|Long QT syndrome [RCV002560809]|not provided [RCV001751321] |
Chr11:2847864 [GRCh38]
Chr11:2869094 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) |
single nucleotide variant |
Conduction disorder of the heart [RCV000845349]|Long QT syndrome [RCV001858456] |
Chr11:2445172 [GRCh38]
Chr11:2466402 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-36442A>G |
single nucleotide variant |
not provided [RCV003312186] |
Chr11:2625519 [GRCh38]
Chr11:2646749 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+14652T>A |
single nucleotide variant |
not provided [RCV003312191] |
Chr11:2676733 [GRCh38]
Chr11:2697963 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-20753C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003946483]|not provided [RCV003312188] |
Chr11:2641208 [GRCh38]
Chr11:2662438 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-20528T>A |
single nucleotide variant |
not provided [RCV003312189] |
Chr11:2641433 [GRCh38]
Chr11:2662663 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1356del (p.Leu453fs) |
deletion |
Cardiac arrhythmia [RCV001843139]|Cardiovascular phenotype [RCV002379703] |
Chr11:2588816 [GRCh38]
Chr11:2610046 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002480656]|Cardiovascular phenotype [RCV002418664]|Long QT syndrome [RCV001201661]|not provided [RCV002464410] |
Chr11:2445295 [GRCh38]
Chr11:2466525 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843151]|Long QT syndrome [RCV002559819] |
Chr11:2570641 [GRCh38]
Chr11:2591871 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.-55G>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104128]|Jervell and Lange-Nielsen syndrome 1 [RCV001104129]|Long QT syndrome 1 [RCV001104433]|Short QT syndrome type 2 [RCV001104434] |
Chr11:2445044 [GRCh38]
Chr11:2466274 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001107186]|Jervell and Lange-Nielsen syndrome 1 [RCV001107833]|Long QT syndrome 1 [RCV001107185]|Short QT syndrome type 2 [RCV001107834] |
Chr11:2445285 [GRCh38]
Chr11:2466515 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1837C>T (p.Leu613Phe) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842647] |
Chr11:2847809 [GRCh38]
Chr11:2869039 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842681]|Long QT syndrome [RCV001875842] |
Chr11:2661996 [GRCh38]
Chr11:2683226 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.921+12A>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104728]|Jervell and Lange-Nielsen syndrome 1 [RCV001104729]|Long QT syndrome 1 [RCV001104727]|Long QT syndrome [RCV002069732]|Short QT syndrome type 2 [RCV001105872] |
Chr11:2572998 [GRCh38]
Chr11:2594228 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.465T>A (p.Thr155=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842690] |
Chr11:2528006 [GRCh38]
Chr11:2549236 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002484009]|Cardiac arrhythmia [RCV001843226]|Cardiovascular phenotype [RCV002447008]|Long QT syndrome [RCV002559071] |
Chr11:2572925 [GRCh38]
Chr11:2594155 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs) |
duplication |
Long QT syndrome [RCV002549288]|not provided [RCV001008398] |
Chr11:2572019..2572020 [GRCh38]
Chr11:2593249..2593250 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1257G>A (p.Lys419=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843241]|Long QT syndrome [RCV002068403] |
Chr11:2588718 [GRCh38]
Chr11:2609948 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs) |
duplication |
Cardiac arrhythmia [RCV001841181]|Long QT syndrome [RCV001212928]|not provided [RCV001751353] |
Chr11:2847780..2847781 [GRCh38]
Chr11:2869010..2869011 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.387-12C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001102602]|Jervell and Lange-Nielsen syndrome 1 [RCV001102601]|Long QT syndrome 1 [RCV001102603]|Short QT syndrome type 2 [RCV001102600] |
Chr11:2527916 [GRCh38]
Chr11:2549146 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.898G>T (p.Ala300Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842731] |
Chr11:2572963 [GRCh38]
Chr11:2594193 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1233del (p.Lys411fs) |
deletion |
Long QT syndrome [RCV001047249] |
Chr11:2587672 [GRCh38]
Chr11:2608902 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1032+16G>A |
single nucleotide variant |
Long QT syndrome [RCV003121423] |
Chr11:2583561 [GRCh38]
Chr11:2604791 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.704T>C (p.Ile235Thr) |
single nucleotide variant |
not provided [RCV003127141] |
Chr11:2572033 [GRCh38]
Chr11:2593263 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.683+258G>T |
single nucleotide variant |
not provided [RCV001581053] |
Chr11:2571661 [GRCh38]
Chr11:2592891 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1521G>A (p.Arg507=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842160]|not provided [RCV001564351] |
Chr11:2768850 [GRCh38]
Chr11:2790080 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1101G>C (p.Gln367His) |
single nucleotide variant |
not provided [RCV001569581] |
Chr11:2585280 [GRCh38]
Chr11:2606510 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.922-122C>T |
single nucleotide variant |
not provided [RCV001560252] |
Chr11:2583313 [GRCh38]
Chr11:2604543 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+16066G>A |
single nucleotide variant |
not provided [RCV001713256] |
Chr11:2461550 [GRCh38]
Chr11:2482780 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1732+43T>C |
single nucleotide variant |
not provided [RCV001713257] |
Chr11:2777075 [GRCh38]
Chr11:2798305 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.684-58C>T |
single nucleotide variant |
not provided [RCV001714847] |
Chr11:2571955 [GRCh38]
Chr11:2593185 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1252-102C>T |
single nucleotide variant |
not provided [RCV001568739] |
Chr11:2588611 [GRCh38]
Chr11:2609841 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*7del |
deletion |
Cardiac arrhythmia [RCV003591882]|not provided [RCV001555468] |
Chr11:2848007 [GRCh38]
Chr11:2869237 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1059G>A (p.Leu353=) |
single nucleotide variant |
not provided [RCV001684800] |
Chr11:2585238 [GRCh38]
Chr11:2606468 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.478-73A>C |
single nucleotide variant |
not provided [RCV001556655] |
Chr11:2570555 [GRCh38]
Chr11:2591785 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.478-191G>A |
single nucleotide variant |
not provided [RCV001641929] |
Chr11:2570437 [GRCh38]
Chr11:2591667 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.386+16065C>T |
single nucleotide variant |
not provided [RCV001613846] |
Chr11:2461549 [GRCh38]
Chr11:2482779 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1685+156G>C |
single nucleotide variant |
not provided [RCV001620121] |
Chr11:2776210 [GRCh38]
Chr11:2797440 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.921+17C>T |
single nucleotide variant |
Long QT syndrome [RCV002073001]|not provided [RCV001642149] |
Chr11:2573003 [GRCh38]
Chr11:2594233 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.477+86_477+87del |
deletion |
not provided [RCV001594616] |
Chr11:2528100..2528101 [GRCh38]
Chr11:2549330..2549331 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.780+39G>C |
single nucleotide variant |
not provided [RCV001549487] |
Chr11:2572148 [GRCh38]
Chr11:2593378 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1251+87A>G |
single nucleotide variant |
not provided [RCV001592650] |
Chr11:2587779 [GRCh38]
Chr11:2609009 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+291C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003984047]|not provided [RCV001677713] |
Chr11:2662372 [GRCh38]
Chr11:2683602 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1591-19G>A |
single nucleotide variant |
Long QT syndrome [RCV002072913]|not provided [RCV001609780] |
Chr11:2775941 [GRCh38]
Chr11:2797171 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1685+36A>G |
single nucleotide variant |
Long QT syndrome 1 [RCV003319476]|not provided [RCV001677081] |
Chr11:2776090 [GRCh38]
Chr11:2797320 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1128+13C>A |
single nucleotide variant |
Long QT syndrome [RCV002073126]|not provided [RCV001673672] |
Chr11:2585320 [GRCh38]
Chr11:2606550 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1095C>T (p.Asn365=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169409]|Long QT syndrome [RCV001453833] |
Chr11:2585274 [GRCh38]
Chr11:2606504 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.684-4G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842543]|Cardiovascular phenotype [RCV003169176]|Long QT syndrome [RCV001450159] |
Chr11:2572009 [GRCh38]
Chr11:2593239 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.948G>A (p.Gly316=) |
single nucleotide variant |
Long QT syndrome [RCV001494736] |
Chr11:2583461 [GRCh38]
Chr11:2604691 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842536]|Cardiovascular phenotype [RCV002416032]|Long QT syndrome [RCV001459450] |
Chr11:2847988 [GRCh38]
Chr11:2869218 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.757T>G (p.Ser253Ala) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843256] |
Chr11:2572086 [GRCh38]
Chr11:2593316 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1248G>A (p.Val416=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842737]|Cardiovascular phenotype [RCV002393394] |
Chr11:2587689 [GRCh38]
Chr11:2608919 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1951G>A (p.Glu651Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843047] |
Chr11:2847923 [GRCh38]
Chr11:2869153 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001840972]|Long QT syndrome [RCV001410312] |
Chr11:2847970 [GRCh38]
Chr11:2869200 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1409C>T (p.Thr470Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843048] |
Chr11:2661976 [GRCh38]
Chr11:2683206 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1443A>G (p.Arg481=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841172] |
Chr11:2662010 [GRCh38]
Chr11:2683240 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841173]|Long QT syndrome [RCV001859162] |
Chr11:2587584 [GRCh38]
Chr11:2608814 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1330del (p.Thr444fs) |
deletion |
Cardiac arrhythmia [RCV001840992] |
Chr11:2588791 [GRCh38]
Chr11:2610021 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.653A>C (p.Lys218Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841000] |
Chr11:2571373 [GRCh38]
Chr11:2592603 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.690C>A (p.Ile230=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841014] |
Chr11:2572019 [GRCh38]
Chr11:2593249 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.642C>G (p.Cys214Trp) |
single nucleotide variant |
Long QT syndrome [RCV001212932] |
Chr11:2571362 [GRCh38]
Chr11:2592592 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.936C>T (p.Thr312=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841043]|Long QT syndrome [RCV002069035] |
Chr11:2583449 [GRCh38]
Chr11:2604679 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.851A>G (p.Glu284Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447197]|Long QT syndrome [RCV001239853] |
Chr11:2572916 [GRCh38]
Chr11:2594146 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1919A>T (p.Gln640Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841064] |
Chr11:2847891 [GRCh38]
Chr11:2869121 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.483C>T (p.Ile161=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841065]|Long QT syndrome [RCV002069055]|not provided [RCV001571641] |
Chr11:2570633 [GRCh38]
Chr11:2591863 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter) |
single nucleotide variant |
Long QT syndrome [RCV001239995] |
Chr11:2775960 [GRCh38]
Chr11:2797190 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1394-13A>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108202]|Cardiac arrhythmia [RCV003591844]|Jervell and Lange-Nielsen syndrome 1 [RCV001108205]|Long QT syndrome 1 [RCV001108203]|Short QT syndrome type 2 [RCV001108204] |
Chr11:2661948 [GRCh38]
Chr11:2683178 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.992G>A (p.Cys331Tyr) |
single nucleotide variant |
Long QT syndrome [RCV001036950] |
Chr11:2583505 [GRCh38]
Chr11:2604735 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1284C>T (p.Asp428=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842687] |
Chr11:2588745 [GRCh38]
Chr11:2609975 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1320C>T (p.Val440=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842700] |
Chr11:2588781 [GRCh38]
Chr11:2610011 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*295G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108562]|Jervell and Lange-Nielsen syndrome 1 [RCV001108563]|Long QT syndrome 1 [RCV001108561]|Short QT syndrome type 2 [RCV001108560] |
Chr11:2848298 [GRCh38]
Chr11:2869528 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro) |
single nucleotide variant |
Long QT syndrome [RCV001234269] |
Chr11:2583477 [GRCh38]
Chr11:2604707 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.604+1G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001841096] |
Chr11:2570755 [GRCh38]
Chr11:2591985 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.462G>A (p.Gly154=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841097]|Long QT syndrome [RCV002069095] |
Chr11:2528003 [GRCh38]
Chr11:2549233 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1128G>T (p.Gln376His) |
single nucleotide variant |
not specified [RCV001193176] |
Chr11:2585307 [GRCh38]
Chr11:2606537 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1415T>C (p.Leu472Pro) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841121]|Long QT syndrome [RCV003647832] |
Chr11:2661982 [GRCh38]
Chr11:2683212 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.498C>T (p.Phe166=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841123] |
Chr11:2570648 [GRCh38]
Chr11:2591878 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1713A>G (p.Ser571=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841129]|Long QT syndrome [RCV002069140] |
Chr11:2777013 [GRCh38]
Chr11:2798243 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1196C>T (p.Ala399Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842636]|Long QT syndrome [RCV001238092]|not provided [RCV001806033] |
Chr11:2587637 [GRCh38]
Chr11:2608867 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1211C>G (p.Thr404Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842642] |
Chr11:2587652 [GRCh38]
Chr11:2608882 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1590G>A (p.Gln530=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843069]|Long QT syndrome [RCV003647830] |
Chr11:2768919 [GRCh38]
Chr11:2790149 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.683+4C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001843105]|Cardiovascular phenotype [RCV002365860]|Long QT syndrome [RCV001876040] |
Chr11:2571407 [GRCh38]
Chr11:2592637 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.2007G>C (p.Arg669Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843286] |
Chr11:2847979 [GRCh38]
Chr11:2869209 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841140]|Sudden cardiac death [RCV001290973]|not provided [RCV001572719] |
Chr11:2662016 [GRCh38]
Chr11:2683246 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843189]|Long QT syndrome [RCV003532886] |
Chr11:2847981 [GRCh38]
Chr11:2869211 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1785A>G (p.Val595=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843287]|Cardiovascular phenotype [RCV003293951]|Long QT syndrome [RCV001467977] |
Chr11:2778028 [GRCh38]
Chr11:2799258 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1033-15T>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842757]|Long QT syndrome [RCV002559755]|not provided [RCV001638050] |
Chr11:2585197 [GRCh38]
Chr11:2606427 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1795-6C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001843290]|Long QT syndrome [RCV002559936] |
Chr11:2847761 [GRCh38]
Chr11:2868991 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1213C>T (p.Leu405=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842760] |
Chr11:2587654 [GRCh38]
Chr11:2608884 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.576C>T (p.Arg192=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842768]|Long QT syndrome [RCV002068240] |
Chr11:2570726 [GRCh38]
Chr11:2591956 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.658C>A (p.Gln220Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841142] |
Chr11:2571378 [GRCh38]
Chr11:2592608 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841143]|Cardiovascular phenotype [RCV002418646]|Long QT syndrome [RCV002560112]|not provided [RCV001587213] |
Chr11:2588713 [GRCh38]
Chr11:2609943 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1411C>A (p.Leu471Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841144] |
Chr11:2661978 [GRCh38]
Chr11:2683208 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1662G>A (p.Val554=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841146] |
Chr11:2776031 [GRCh38]
Chr11:2797261 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1249G>A (p.Val417Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841405] |
Chr11:2587690 [GRCh38]
Chr11:2608920 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-8T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001842705]|Long QT syndrome [RCV002068209] |
Chr11:2588705 [GRCh38]
Chr11:2609935 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843298]|Cardiovascular phenotype [RCV003284024]|Long QT syndrome [RCV003647831] |
Chr11:2583483 [GRCh38]
Chr11:2604713 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.683+3G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001843299]|Cardiovascular phenotype [RCV003293952]|Long QT syndrome [RCV001859118] |
Chr11:2571406 [GRCh38]
Chr11:2592636 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841155]|Cardiovascular phenotype [RCV002320423]|not specified [RCV001195498] |
Chr11:2587603 [GRCh38]
Chr11:2608833 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.831G>A (p.Ser277=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841158]|Cardiovascular phenotype [RCV002429844]|Long QT syndrome [RCV002560134]|not provided [RCV001545573] |
Chr11:2572896 [GRCh38]
Chr11:2594126 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*240C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001105210]|Jervell and Lange-Nielsen syndrome 1 [RCV001105211]|Long QT syndrome 1 [RCV001105209]|Short QT syndrome type 2 [RCV001105212] |
Chr11:2848243 [GRCh38]
Chr11:2869473 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002483968]|Cardiac arrhythmia [RCV001842712] |
Chr11:2587618 [GRCh38]
Chr11:2608848 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.553G>A (p.Val185Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842726]|Long QT syndrome [RCV001875885] |
Chr11:2570703 [GRCh38]
Chr11:2591933 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1384G>A (p.Asp462Asn) |
single nucleotide variant |
Long QT syndrome [RCV001210295] |
Chr11:2588845 [GRCh38]
Chr11:2610075 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1512A>C (p.Ser504=) |
single nucleotide variant |
not provided [RCV000911404] |
Chr11:2662079 [GRCh38]
Chr11:2683309 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.663G>A (p.Val221=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842561]|Long QT syndrome [RCV001500985] |
Chr11:2571383 [GRCh38]
Chr11:2592613 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1314C>T (p.Leu438=) |
single nucleotide variant |
not provided [RCV000935027] |
Chr11:2588775 [GRCh38]
Chr11:2610005 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1089C>T (p.His363=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445063]|Long QT syndrome [RCV001400212] |
Chr11:2585268 [GRCh38]
Chr11:2606498 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.168C>T (p.Pro56=) |
single nucleotide variant |
not provided [RCV001569627] |
Chr11:2445266 [GRCh38]
Chr11:2466496 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.683+276del |
deletion |
not provided [RCV001556541] |
Chr11:2571679 [GRCh38]
Chr11:2592909 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-188C>T |
single nucleotide variant |
not provided [RCV001595294] |
Chr11:2588525 [GRCh38]
Chr11:2609755 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.921+316C>G |
single nucleotide variant |
not provided [RCV001570926] |
Chr11:2573302 [GRCh38]
Chr11:2594532 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1795-249A>G |
single nucleotide variant |
not provided [RCV001689421] |
Chr11:2847518 [GRCh38]
Chr11:2868748 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.387-3C>G |
single nucleotide variant |
not provided [RCV001553224] |
Chr11:2527925 [GRCh38]
Chr11:2549155 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1942G>C (p.Val648Leu) |
single nucleotide variant |
not provided [RCV001658567] |
Chr11:2847914 [GRCh38]
Chr11:2869144 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591880]|Cardiovascular phenotype [RCV003298922]|Long QT syndrome [RCV002032550]|not provided [RCV001544877] |
Chr11:2585276 [GRCh38]
Chr11:2606506 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1515-55G>A |
single nucleotide variant |
not provided [RCV001620352] |
Chr11:2768789 [GRCh38]
Chr11:2790019 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.921+88C>T |
single nucleotide variant |
not provided [RCV001555665] |
Chr11:2573074 [GRCh38]
Chr11:2594304 [GRCh37]
Chr11:11p15.5 |
likely benign |
| GRCh37/hg19 11p15.5(chr11:2458744-2616835)x3 |
copy number gain |
not provided [RCV001006374] |
Chr11:2458744..2616835 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs) |
deletion |
Long QT syndrome [RCV001057999]|not provided [RCV001008443] |
Chr11:2570713..2570714 [GRCh38]
Chr11:2591943..2591944 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1733-53T>C |
single nucleotide variant |
not provided [RCV001621474] |
Chr11:2777923 [GRCh38]
Chr11:2799153 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1590+31A>T |
single nucleotide variant |
not provided [RCV001592664] |
Chr11:2768950 [GRCh38]
Chr11:2790180 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.387-97G>C |
single nucleotide variant |
not provided [RCV001716802] |
Chr11:2527831 [GRCh38]
Chr11:2549061 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.386+218_386+219del |
deletion |
not provided [RCV001537194] |
Chr11:2445701..2445702 [GRCh38]
Chr11:2466931..2466932 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1032+15G>A |
single nucleotide variant |
not provided [RCV001693669] |
Chr11:2583560 [GRCh38]
Chr11:2604790 [GRCh37]
Chr11:11p15.5 |
benign |
| GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 |
copy number gain |
not provided [RCV001006372] |
Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13 |
pathogenic |
| NM_000218.3(KCNQ1):c.386+16041T>C |
single nucleotide variant |
not provided [RCV001673619] |
Chr11:2461525 [GRCh38]
Chr11:2482755 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1033-12A>C |
single nucleotide variant |
Cardiac arrhythmia [RCV003591886]|Long QT syndrome [RCV002538656]|not provided [RCV001715654] |
Chr11:2585200 [GRCh38]
Chr11:2606430 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842628]|Cardiovascular phenotype [RCV003293920]|Long QT syndrome [RCV001438948]|not provided [RCV001619893] |
Chr11:2572962 [GRCh38]
Chr11:2594192 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1795-10G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002497619]|Cardiac arrhythmia [RCV001842676]|Long QT syndrome [RCV001497887] |
Chr11:2847757 [GRCh38]
Chr11:2868987 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:2683937-3207439)x3 |
copy number gain |
not provided [RCV001006375] |
Chr11:2683937..3207439 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1686-4C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842694]|Cardiovascular phenotype [RCV002411674]|Long QT syndrome [RCV001431757] |
Chr11:2776982 [GRCh38]
Chr11:2798212 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.678C>G (p.Ala226=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843234]|Long QT syndrome [RCV001452476]|not provided [RCV001692360] |
Chr11:2571398 [GRCh38]
Chr11:2592628 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1209C>T (p.His403=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841016]|Cardiovascular phenotype [RCV002356856] |
Chr11:2587650 [GRCh38]
Chr11:2608880 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1497C>T (p.Pro499=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841028] |
Chr11:2662064 [GRCh38]
Chr11:2683294 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1733-8C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841032] |
Chr11:2777968 [GRCh38]
Chr11:2799198 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002480624]|Cardiac arrhythmia [RCV001841033]|Long QT syndrome [RCV002560015]|not provided [RCV001751341] |
Chr11:2662023 [GRCh38]
Chr11:2683253 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs) |
duplication |
Cardiac arrhythmia [RCV001841047] |
Chr11:2662006..2662007 [GRCh38]
Chr11:2683236..2683237 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.684-15C>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001104626]|Jervell and Lange-Nielsen syndrome 1 [RCV001107367]|Long QT syndrome 1 [RCV001104625]|Short QT syndrome type 2 [RCV001104627] |
Chr11:2571998 [GRCh38]
Chr11:2593228 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*6G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842724] |
Chr11:2848009 [GRCh38]
Chr11:2869239 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs) |
indel |
Cardiac arrhythmia [RCV001842733] |
Chr11:2585222..2585233 [GRCh38]
Chr11:2606452..2606463 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842735]|Long QT syndrome [RCV002068223] |
Chr11:2662034 [GRCh38]
Chr11:2683264 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1338C>A (p.Asp446Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841073]|Long QT syndrome [RCV002069062] |
Chr11:2588799 [GRCh38]
Chr11:2610029 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1246G>A (p.Val416Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841083] |
Chr11:2587687 [GRCh38]
Chr11:2608917 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841084]|Long QT syndrome 1 [RCV003319447]|Long QT syndrome [RCV001862995] |
Chr11:2572924 [GRCh38]
Chr11:2594154 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843269]|Cardiovascular phenotype [RCV002379717]|Long QT syndrome [RCV001314649] |
Chr11:2588806 [GRCh38]
Chr11:2610036 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843272]|Long QT syndrome [RCV002559097]|not provided [RCV003490102] |
Chr11:2662004 [GRCh38]
Chr11:2683234 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843276]|Long QT syndrome [RCV002559924] |
Chr11:2847856 [GRCh38]
Chr11:2869086 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.684-4G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001843280]|Long QT syndrome [RCV002068431] |
Chr11:2572009 [GRCh38]
Chr11:2593239 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1733-9C>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842751] |
Chr11:2777967 [GRCh38]
Chr11:2799197 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1033-13C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841104]|Long QT syndrome [RCV002069113] |
Chr11:2585199 [GRCh38]
Chr11:2606429 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*66C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001106256]|Jervell and Lange-Nielsen syndrome 1 [RCV001106257]|Long QT syndrome 1 [RCV001106255]|Short QT syndrome type 2 [RCV001106258] |
Chr11:2848069 [GRCh38]
Chr11:2869299 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*290A>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001106349]|Jervell and Lange-Nielsen syndrome 1 [RCV001106351]|Long QT syndrome 1 [RCV001106348]|Short QT syndrome type 2 [RCV001106350] |
Chr11:2848293 [GRCh38]
Chr11:2869523 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591832]|Cardiovascular phenotype [RCV003307836]|Long QT syndrome [RCV001044028] |
Chr11:2775964 [GRCh38]
Chr11:2797194 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.780+6T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001842753] |
Chr11:2572115 [GRCh38]
Chr11:2593345 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.966G>A (p.Thr322=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843281]|Long QT syndrome [RCV002068434] |
Chr11:2583479 [GRCh38]
Chr11:2604709 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1583A>G (p.Lys528Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843128] |
Chr11:2768912 [GRCh38]
Chr11:2790142 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1533G>A (p.Arg511=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841108]|Cardiovascular phenotype [RCV002402553]|Long QT syndrome [RCV001406029] |
Chr11:2768862 [GRCh38]
Chr11:2790092 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1098G>A (p.Arg366=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841114]|Long QT syndrome [RCV002559179] |
Chr11:2585277 [GRCh38]
Chr11:2606507 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841116]|Cardiovascular phenotype [RCV002393439]|KCNQ1-related condition [RCV003973131]|Long QT syndrome [RCV002560958] |
Chr11:2662026 [GRCh38]
Chr11:2683256 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1660G>T (p.Val554Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843196] |
Chr11:2776029 [GRCh38]
Chr11:2797259 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1387A>G (p.Ser463Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843201] |
Chr11:2588848 [GRCh38]
Chr11:2610078 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.879C>T (p.Arg293=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843213]|Cardiovascular phenotype [RCV002447005]|Long QT syndrome [RCV002067947] |
Chr11:2572944 [GRCh38]
Chr11:2594174 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1590+13C>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001106074]|Jervell and Lange-Nielsen syndrome 1 [RCV001106073]|Long QT syndrome 1 [RCV001106076]|Short QT syndrome type 2 [RCV001106075] |
Chr11:2768932 [GRCh38]
Chr11:2790162 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.604+3_604+6dup |
duplication |
Long QT syndrome [RCV002069607] |
Chr11:2570754..2570755 [GRCh38]
Chr11:2591984..2591985 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.855G>A (p.Lys285=) |
single nucleotide variant |
Long QT syndrome [RCV002633652] |
Chr11:2572920 [GRCh38]
Chr11:2594150 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*81C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108487]|Jervell and Lange-Nielsen syndrome 1 [RCV001108486]|Long QT syndrome 1 [RCV001108484]|Short QT syndrome type 2 [RCV001108485] |
Chr11:2848084 [GRCh38]
Chr11:2869314 [GRCh37]
Chr11:11p15.4 |
benign|uncertain significance |
| NM_000218.3(KCNQ1):c.*125C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108490]|Jervell and Lange-Nielsen syndrome 1 [RCV001108489]|Long QT syndrome 1 [RCV001108491]|Short QT syndrome type 2 [RCV001108488] |
Chr11:2848128 [GRCh38]
Chr11:2869358 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*730C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001108721]|Jervell and Lange-Nielsen syndrome 1 [RCV001108719]|Long QT syndrome 1 [RCV001108718]|Short QT syndrome type 2 [RCV001108720] |
Chr11:2848733 [GRCh38]
Chr11:2869963 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1320C>A (p.Val440=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842641]|Cardiovascular phenotype [RCV002379676]|Long QT syndrome [RCV002558807] |
Chr11:2588781 [GRCh38]
Chr11:2610011 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002484042]|Cardiac arrhythmia [RCV001841126]|Cardiovascular phenotype [RCV002411719]|Long QT syndrome [RCV001228890] |
Chr11:2847908 [GRCh38]
Chr11:2869138 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NC_000011.10:g.(?_2583425)_(2588864_?)del |
deletion |
Long QT syndrome [RCV001031169] |
Chr11:2604655..2610094 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1968C>T (p.Ser656=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842767] |
Chr11:2847940 [GRCh38]
Chr11:2869170 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1303G>A (p.Glu435Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843169] |
Chr11:2588764 [GRCh38]
Chr11:2609994 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.888C>T (p.Phe296=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843262]|Long QT syndrome [RCV001394368]|not provided [RCV001712876] |
Chr11:2572953 [GRCh38]
Chr11:2594183 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1892C>A (p.Pro631His) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843098] |
Chr11:2847864 [GRCh38]
Chr11:2869094 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1539C>G (p.Thr513=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843301] |
Chr11:2768868 [GRCh38]
Chr11:2790098 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.774C>T (p.His258=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001840968]|Cardiovascular phenotype [RCV002411703]|Long QT syndrome [RCV001431754] |
Chr11:2572103 [GRCh38]
Chr11:2593333 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.573G>T (p.Leu191=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842779] |
Chr11:2570723 [GRCh38]
Chr11:2591953 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn) |
single nucleotide variant |
Cardiac arrhythmia [RCV001840994]|Long QT syndrome [RCV001315852]|not specified [RCV001824929] |
Chr11:2847917 [GRCh38]
Chr11:2869147 [GRCh37]
Chr11:11p15.4 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1442G>A (p.Arg481Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841148] |
Chr11:2662009 [GRCh38]
Chr11:2683239 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.478-8C>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001841160] |
Chr11:2570620 [GRCh38]
Chr11:2591850 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1266G>A (p.Lys422=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843106] |
Chr11:2588727 [GRCh38]
Chr11:2609957 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.867C>T (p.Asn289=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001840971]|Cardiovascular phenotype [RCV003163451]|Long QT syndrome [RCV001429553] |
Chr11:2572932 [GRCh38]
Chr11:2594162 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.861G>A (p.Ala287=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843046]|Long QT syndrome [RCV002068249]|not provided [RCV001732063] |
Chr11:2572926 [GRCh38]
Chr11:2594156 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1469A>G (p.Asp490Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843130] |
Chr11:2662036 [GRCh38]
Chr11:2683266 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1224C>T (p.Pro408=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841165]|Long QT syndrome [RCV003770172] |
Chr11:2587665 [GRCh38]
Chr11:2608895 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1762A>G (p.Ile588Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842659] |
Chr11:2778005 [GRCh38]
Chr11:2799235 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843204]|Cardiovascular phenotype [RCV002339464]|Long QT syndrome [RCV001455505] |
Chr11:2587626 [GRCh38]
Chr11:2608856 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1427T>C (p.Met476Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843205] |
Chr11:2661994 [GRCh38]
Chr11:2683224 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1732+4G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001843207] |
Chr11:2777036 [GRCh38]
Chr11:2798266 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.780+12G>A |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001107368]|Jervell and Lange-Nielsen syndrome 1 [RCV001107369]|Long QT syndrome 1 [RCV001107370]|Long QT syndrome [RCV002067792]|Short QT syndrome type 2 [RCV001108019] |
Chr11:2572121 [GRCh38]
Chr11:2593351 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843118]|Cardiovascular phenotype [RCV002320405]|Long QT syndrome [RCV001481777]|not provided [RCV001732064] |
Chr11:2587572 [GRCh38]
Chr11:2608802 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-6C>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001840977]|Inborn genetic diseases [RCV002560898]|Long QT syndrome [RCV003770090]|not specified [RCV001732067] |
Chr11:2661955 [GRCh38]
Chr11:2683185 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1252-11G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001843051]|Long QT syndrome [RCV003532882] |
Chr11:2588702 [GRCh38]
Chr11:2609932 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1733-4A>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001840979] |
Chr11:2777972 [GRCh38]
Chr11:2799202 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1164C>T (p.Asp388=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842621]|Long QT syndrome [RCV001442105] |
Chr11:2587605 [GRCh38]
Chr11:2608835 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.777C>T (p.Arg259=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842637] |
Chr11:2572106 [GRCh38]
Chr11:2593336 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-3dup |
duplication |
Cardiac arrhythmia [RCV001843218]|Cardiovascular phenotype [RCV002411697]|Long QT syndrome [RCV002068386] |
Chr11:2588702..2588703 [GRCh38]
Chr11:2609932..2609933 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1290G>A (p.Gly430=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843223]|Cardiovascular phenotype [RCV003163438]|Long QT syndrome [RCV001460462] |
Chr11:2588751 [GRCh38]
Chr11:2609981 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1251+3G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001843123] |
Chr11:2587695 [GRCh38]
Chr11:2608925 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV003227924]|Cardiac arrhythmia [RCV001843174]|Long QT syndrome [RCV001876106] |
Chr11:2847896 [GRCh38]
Chr11:2869126 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1252-5T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001843059] |
Chr11:2588708 [GRCh38]
Chr11:2609938 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001102706]|Cardiovascular phenotype [RCV003160632]|Jervell and Lange-Nielsen syndrome 1 [RCV001102705]|Long QT syndrome 1 [RCV001102707]|Long QT syndrome [RCV001433573]|Short QT syndrome type 2 [RCV001102708] |
Chr11:2570684 [GRCh38]
Chr11:2591914 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843146]|Inborn genetic diseases [RCV003293943]|Long QT syndrome [RCV001312765]|not provided [RCV001593314] |
Chr11:2662054 [GRCh38]
Chr11:2683284 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_532616)_(2906985_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032557] |
Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.873A>G (p.Ser291=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843084] |
Chr11:2572938 [GRCh38]
Chr11:2594168 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.906G>A (p.Ala302=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843112]|Long QT syndrome [RCV001494200]|not provided [RCV003222248] |
Chr11:2572971 [GRCh38]
Chr11:2594201 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.496T>G (p.Phe166Val) |
single nucleotide variant |
Long QT syndrome [RCV001049669] |
Chr11:2570646 [GRCh38]
Chr11:2591876 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386+16110G>A |
single nucleotide variant |
not provided [RCV001665974] |
Chr11:2461594 [GRCh38]
Chr11:2482824 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1794+32G>T |
single nucleotide variant |
not provided [RCV001684537] |
Chr11:2778069 [GRCh38]
Chr11:2799299 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843108]|Long QT syndrome [RCV002295332] |
Chr11:2570644 [GRCh38]
Chr11:2591874 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1320C>G (p.Val440=) |
single nucleotide variant |
Long QT syndrome [RCV003647847]|not provided [RCV001702972]|not specified [RCV001699626] |
Chr11:2588781 [GRCh38]
Chr11:2610011 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.275C>G (p.Ser92Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002440818]|not provided [RCV001583380] |
Chr11:2445373 [GRCh38]
Chr11:2466603 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-27C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003910921]|not provided [RCV001587807] |
Chr11:2661934 [GRCh38]
Chr11:2683164 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.780+77A>G |
single nucleotide variant |
not provided [RCV001611481] |
Chr11:2572186 [GRCh38]
Chr11:2593416 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1515-119A>G |
single nucleotide variant |
not provided [RCV001711025] |
Chr11:2768725 [GRCh38]
Chr11:2789955 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) |
duplication |
Cardiovascular phenotype [RCV002414255]|Long QT syndrome 1 [RCV001729942]|not provided [RCV001536818] |
Chr11:2587690..2587691 [GRCh38]
Chr11:2608920..2608921 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1032+165C>T |
single nucleotide variant |
not provided [RCV001583786] |
Chr11:2583710 [GRCh38]
Chr11:2604940 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.10:g.2444714C>G |
single nucleotide variant |
not provided [RCV001566372] |
Chr11:2444714 [GRCh38]
Chr11:2465944 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.10:g.2444986C>A |
single nucleotide variant |
not provided [RCV001611705] |
Chr11:2444986 [GRCh38]
Chr11:2466216 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del) |
deletion |
Long QT syndrome [RCV001067817] |
Chr11:2572875..2572880 [GRCh38]
Chr11:2594105..2594110 [GRCh37]
Chr11:11p15.5 |
pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.560T>G (p.Leu187Arg) |
single nucleotide variant |
Long QT syndrome [RCV001046555] |
Chr11:2570710 [GRCh38]
Chr11:2591940 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.250C>T (p.Pro84Ser) |
single nucleotide variant |
Long QT syndrome [RCV001219735] |
Chr11:2445348 [GRCh38]
Chr11:2466578 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1772G>C (p.Arg591Pro) |
single nucleotide variant |
Long QT syndrome [RCV001060042] |
Chr11:2778015 [GRCh38]
Chr11:2799245 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1132G>T (p.Ala378Ser) |
single nucleotide variant |
Long QT syndrome [RCV001219814] |
Chr11:2587573 [GRCh38]
Chr11:2608803 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.604+2T>C |
single nucleotide variant |
Long QT syndrome 1 [RCV001089535] |
Chr11:2570756 [GRCh38]
Chr11:2591986 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.920T>A (p.Val307Glu) |
single nucleotide variant |
Long QT syndrome [RCV001053051] |
Chr11:2572985 [GRCh38]
Chr11:2594215 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter) |
single nucleotide variant |
Long QT syndrome [RCV001061339] |
Chr11:2572072 [GRCh38]
Chr11:2593302 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.233A>C (p.Asp78Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380885]|Long QT syndrome [RCV001213724] |
Chr11:2445331 [GRCh38]
Chr11:2466561 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.239G>C (p.Gly80Ala) |
single nucleotide variant |
Long QT syndrome [RCV001234051] |
Chr11:2445337 [GRCh38]
Chr11:2466567 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.919G>A (p.Val307Met) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843115] |
Chr11:2572984 [GRCh38]
Chr11:2594214 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1576A>C (p.Lys526Gln) |
single nucleotide variant |
Long QT syndrome 1 [RCV001095740]|Long QT syndrome [RCV001058372] |
Chr11:2768905 [GRCh38]
Chr11:2790135 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386T>C (p.Val129Ala) |
single nucleotide variant |
Long QT syndrome [RCV001216436] |
Chr11:2445484 [GRCh38]
Chr11:2466714 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841183]|Long QT syndrome [RCV001390367] |
Chr11:2445251 [GRCh38]
Chr11:2466481 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs) |
deletion |
Long QT syndrome 1 [RCV001195882] |
Chr11:2588719..2588722 [GRCh38]
Chr11:2609949..2609952 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1794+2_1794+5del |
deletion |
Long QT syndrome 1 [RCV002251758]|Long QT syndrome [RCV001064176] |
Chr11:2778036..2778039 [GRCh38]
Chr11:2799266..2799269 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001106174]|Jervell and Lange-Nielsen syndrome 1 [RCV001108384]|Long QT syndrome 1 [RCV001106173]|Short QT syndrome type 2 [RCV001108385] |
Chr11:2847867 [GRCh38]
Chr11:2869097 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu) |
single nucleotide variant |
Long QT syndrome 1 [RCV001089528] |
Chr11:2585288 [GRCh38]
Chr11:2606518 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro) |
single nucleotide variant |
Long QT syndrome 1 [RCV001089529] |
Chr11:2572105 [GRCh38]
Chr11:2593335 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1733-13T>C |
single nucleotide variant |
Cardiac arrhythmia [RCV001843135] |
Chr11:2777963 [GRCh38]
Chr11:2799193 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.639C>T (p.Leu213=) |
single nucleotide variant |
not specified [RCV001175472] |
Chr11:2571359 [GRCh38]
Chr11:2592589 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1129-8G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001843168]|Long QT syndrome [RCV001506212] |
Chr11:2587562 [GRCh38]
Chr11:2608792 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1795G>T (p.Val599Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843170] |
Chr11:2847767 [GRCh38]
Chr11:2868997 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.*632C>T |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV001103473]|Jervell and Lange-Nielsen syndrome 1 [RCV001103475]|Long QT syndrome 1 [RCV001103472]|Short QT syndrome type 2 [RCV001103474] |
Chr11:2848635 [GRCh38]
Chr11:2869865 [GRCh37]
Chr11:11p15.4 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1181T>C (p.Ile394Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843197] |
Chr11:2587622 [GRCh38]
Chr11:2608852 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.844C>G (p.Leu282Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842669]|not provided [RCV001553100] |
Chr11:2572909 [GRCh38]
Chr11:2594139 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002484008]|Cardiac arrhythmia [RCV001843217]|Long QT syndrome [RCV001233933]|not provided [RCV002224008]|not specified [RCV003317443] |
Chr11:2778008 [GRCh38]
Chr11:2799238 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002480612]|Cardiac arrhythmia [RCV001843225]|Cardiovascular phenotype [RCV002411701]|Long QT syndrome [RCV001360633]|Polymorphic ventricular tachycardia [RCV003163439] |
Chr11:2847876 [GRCh38]
Chr11:2869106 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.906G>T (p.Ala302=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842715]|Long QT syndrome [RCV003769918] |
Chr11:2572971 [GRCh38]
Chr11:2594201 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843257]|Long QT syndrome [RCV002559916] |
Chr11:2847897 [GRCh38]
Chr11:2869127 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1591-4G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003163539]|Long QT syndrome [RCV001203715] |
Chr11:2775956 [GRCh38]
Chr11:2797186 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.10:g.(?_2570618)_(2572996_?)del |
deletion |
Long QT syndrome [RCV001033563] |
Chr11:2591848..2594226 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu) |
single nucleotide variant |
Long QT syndrome [RCV001042344] |
Chr11:2445202 [GRCh38]
Chr11:2466432 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1264A>G (p.Lys422Glu) |
single nucleotide variant |
Long QT syndrome 1 [RCV001003370] |
Chr11:2588725 [GRCh38]
Chr11:2609955 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1809C>A (p.Asp603Glu) |
single nucleotide variant |
Long QT syndrome [RCV001042935] |
Chr11:2847781 [GRCh38]
Chr11:2869011 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+37364_1514+38744del |
deletion |
Silver-Russell syndrome 1 [RCV001254930] |
Chr11:2699444..2700824 [GRCh38]
Chr11:2720674..2722054 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1667_1679del (p.Ile556fs) |
deletion |
Jervell and Lange-Nielsen syndrome 1 [RCV001253269] |
Chr11:2776033..2776045 [GRCh38]
Chr11:2797263..2797275 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1032+1_1129-1del |
deletion |
Long QT syndrome [RCV001254743] |
Chr11:2583545..2587568 [GRCh38]
Chr11:2604775..2608798 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1322C>T (p.Pro441Leu) |
single nucleotide variant |
Long QT syndrome [RCV001254731] |
Chr11:2588783 [GRCh38]
Chr11:2610013 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386T>G (p.Val129Gly) |
single nucleotide variant |
Long QT syndrome [RCV001254733] |
Chr11:2445484 [GRCh38]
Chr11:2466714 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 |
copy number gain |
See cases [RCV001263059] |
Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436982]|Long QT syndrome 1 [RCV001262825]|Long QT syndrome [RCV002541598] |
Chr11:2445385 [GRCh38]
Chr11:2466615 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1278del (p.Asp426fs) |
deletion |
Long QT syndrome 1 [RCV001262863] |
Chr11:2588739 [GRCh38]
Chr11:2609969 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| GRCh37/hg19 11p15.5(chr11:2585399-2669895)x1 |
copy number loss |
not provided [RCV001259593] |
Chr11:2585399..2669895 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1590+2T>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842167] |
Chr11:2768921 [GRCh38]
Chr11:2790151 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1560G>A (p.Met520Ile) |
single nucleotide variant |
Long QT syndrome [RCV001348348]|not provided [RCV001762592] |
Chr11:2768889 [GRCh38]
Chr11:2790119 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr) |
single nucleotide variant |
Long QT syndrome 1 [RCV001258175] |
Chr11:2445124 [GRCh38]
Chr11:2466354 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591850]|Cardiovascular phenotype [RCV003166588]|Long QT syndrome 1 [RCV001258176]|Long QT syndrome 1 [RCV003127738] |
Chr11:2847854 [GRCh38]
Chr11:2869084 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:2314240-2915570)x3 |
copy number gain |
See cases [RCV002285051] |
Chr11:2314240..2915570 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) |
deletion |
Long QT syndrome 1 [RCV001262826]|not provided [RCV003886499] |
Chr11:2570702 [GRCh38]
Chr11:2591932 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841200]|Inborn genetic diseases [RCV001266502]|Long QT syndrome [RCV001294856] |
Chr11:2587636 [GRCh38]
Chr11:2608866 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.1794+16G>A |
single nucleotide variant |
Long QT syndrome [RCV002069382]|not specified [RCV001264480] |
Chr11:2778053 [GRCh38]
Chr11:2799283 [GRCh37]
Chr11:11p15.5 |
benign |
| GRCh37/hg19 11p15.5-15.4(chr11:2629917-2902668)x3 |
copy number gain |
not provided [RCV001260127] |
Chr11:2629917..2902668 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 |
copy number gain |
Silver-Russell syndrome 1 [RCV001263222] |
Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.190_210del (p.Pro64_Pro70del) |
deletion |
Long QT syndrome [RCV001297343]|not provided [RCV001587325] |
Chr11:2445280..2445300 [GRCh38]
Chr11:2466510..2466530 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_298501)_(4113028_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] |
Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu) |
microsatellite |
Cardiovascular phenotype [RCV002393684]|Long QT syndrome [RCV001871637]|Prolonged QT interval [RCV001281521] |
Chr11:2662027..2662028 [GRCh38]
Chr11:2683257..2683258 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.329_330delinsAG (p.Val110Glu) |
indel |
Long QT syndrome [RCV001319791] |
Chr11:2445427..2445428 [GRCh38]
Chr11:2466657..2466658 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1079_1084dup (p.Gln361_Lys362insArgGln) |
duplication |
Long QT syndrome [RCV001312445] |
Chr11:2585252..2585253 [GRCh38]
Chr11:2606482..2606483 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln) |
single nucleotide variant |
Long QT syndrome [RCV001301619] |
Chr11:2572081 [GRCh38]
Chr11:2593311 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1699A>T (p.Ile567Phe) |
single nucleotide variant |
not provided [RCV001310951] |
Chr11:2776999 [GRCh38]
Chr11:2798229 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg) |
single nucleotide variant |
Long QT syndrome [RCV001340233] |
Chr11:2778003 [GRCh38]
Chr11:2799233 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842172] |
Chr11:2527986 [GRCh38]
Chr11:2549216 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1838T>C (p.Leu613Pro) |
single nucleotide variant |
Long QT syndrome [RCV001300208] |
Chr11:2847810 [GRCh38]
Chr11:2869040 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.921+4A>G |
single nucleotide variant |
Long QT syndrome [RCV001368530] |
Chr11:2572990 [GRCh38]
Chr11:2594220 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1998C>G (p.Thr666=) |
single nucleotide variant |
Long QT syndrome [RCV001414535] |
Chr11:2847970 [GRCh38]
Chr11:2869200 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs) |
deletion |
Long QT syndrome 1 [RCV001280836] |
Chr11:2587655..2587656 [GRCh38]
Chr11:2608885..2608886 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1218G>A (p.Leu406=) |
single nucleotide variant |
Long QT syndrome [RCV001396869] |
Chr11:2587659 [GRCh38]
Chr11:2608889 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.232G>C (p.Asp78His) |
single nucleotide variant |
Long QT syndrome [RCV001370135] |
Chr11:2445330 [GRCh38]
Chr11:2466560 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.222A>G (p.Pro74=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003365390]|Long QT syndrome [RCV001423101] |
Chr11:2445320 [GRCh38]
Chr11:2466550 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.342C>A (p.Leu114=) |
single nucleotide variant |
Long QT syndrome [RCV001370539] |
Chr11:2445440 [GRCh38]
Chr11:2466670 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.168C>G (p.Pro56=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003365382]|Long QT syndrome [RCV001415410] |
Chr11:2445266 [GRCh38]
Chr11:2466496 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.917G>A (p.Gly306Glu) |
single nucleotide variant |
Long QT syndrome [RCV001294584] |
Chr11:2572982 [GRCh38]
Chr11:2594212 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.247C>T (p.Pro83Ser) |
single nucleotide variant |
Long QT syndrome [RCV001344695] |
Chr11:2445345 [GRCh38]
Chr11:2466575 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr) |
single nucleotide variant |
Long QT syndrome [RCV001317809] |
Chr11:2768888 [GRCh38]
Chr11:2790118 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.386+16231G>A |
single nucleotide variant |
Long QT syndrome 1 [RCV001328808] |
Chr11:2461715 [GRCh38]
Chr11:2482945 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NC_000011.9:g.(?_2591838)_(2594236_?)dup |
duplication |
Long QT syndrome [RCV001322170] |
Chr11:2591838..2594236 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384404]|Long QT syndrome [RCV001317842] |
Chr11:2588788 [GRCh38]
Chr11:2610018 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380002]|Long QT syndrome [RCV001298493]|not provided [RCV001567242] |
Chr11:2588809 [GRCh38]
Chr11:2610039 [GRCh37]
Chr11:11p15.5 |
benign|likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.83C>G (p.Ala28Gly) |
single nucleotide variant |
Long QT syndrome [RCV001339308] |
Chr11:2445181 [GRCh38]
Chr11:2466411 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341687]|Long QT syndrome [RCV001337314] |
Chr11:2570661 [GRCh38]
Chr11:2591891 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.356G>T (p.Gly119Val) |
single nucleotide variant |
Long QT syndrome [RCV001340330] |
Chr11:2445454 [GRCh38]
Chr11:2466684 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.955G>A (p.Val319Met) |
single nucleotide variant |
Long QT syndrome [RCV001348383] |
Chr11:2583468 [GRCh38]
Chr11:2604698 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu) |
single nucleotide variant |
Long QT syndrome [RCV001341790] |
Chr11:2585291 [GRCh38]
Chr11:2606521 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1436T>A (p.Phe479Tyr) |
single nucleotide variant |
Long QT syndrome [RCV001340552] |
Chr11:2662003 [GRCh38]
Chr11:2683233 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413877]|Jervell and Lange-Nielsen syndrome 1 [RCV003447592]|Long QT syndrome [RCV001367167] |
Chr11:2445285 [GRCh38]
Chr11:2466515 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.348T>C (p.Arg116=) |
single nucleotide variant |
Long QT syndrome [RCV001421267] |
Chr11:2445446 [GRCh38]
Chr11:2466676 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842053]|Long QT syndrome [RCV001501108] |
Chr11:2847932 [GRCh38]
Chr11:2869162 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
not provided [RCV001358438] |
Chr11:2445102 [GRCh38]
Chr11:2466332 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala) |
single nucleotide variant |
Long QT syndrome [RCV001365655] |
Chr11:2583463 [GRCh38]
Chr11:2604693 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1710C>T (p.Pro570=) |
single nucleotide variant |
Long QT syndrome [RCV001396108] |
Chr11:2777010 [GRCh38]
Chr11:2798240 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.170G>A (p.Gly57Asp) |
single nucleotide variant |
Long QT syndrome [RCV001365915] |
Chr11:2445268 [GRCh38]
Chr11:2466498 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1725C>T (p.Ser575=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842061]|Long QT syndrome [RCV002070299] |
Chr11:2777025 [GRCh38]
Chr11:2798255 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1332G>T (p.Thr444=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842072] |
Chr11:2588793 [GRCh38]
Chr11:2610023 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.719A>G (p.His240Arg) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842079] |
Chr11:2572048 [GRCh38]
Chr11:2593278 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del) |
deletion |
Cardiac arrhythmia [RCV001842082]|Cardiovascular phenotype [RCV002384865]|Long QT syndrome [RCV003771584] |
Chr11:2588748..2588759 [GRCh38]
Chr11:2609978..2609989 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414177]|Long QT syndrome [RCV001485470] |
Chr11:2847859 [GRCh38]
Chr11:2869089 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.114G>C (p.Leu38=) |
single nucleotide variant |
Long QT syndrome [RCV001417140] |
Chr11:2445212 [GRCh38]
Chr11:2466442 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-2A>C |
single nucleotide variant |
Long QT syndrome [RCV001378172] |
Chr11:2588711 [GRCh38]
Chr11:2609941 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1590+8C>A |
single nucleotide variant |
Long QT syndrome [RCV001473526] |
Chr11:2768927 [GRCh38]
Chr11:2790157 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1454T>C (p.Phe485Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842127] |
Chr11:2662021 [GRCh38]
Chr11:2683251 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1515-13C>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001842136]|Long QT syndrome [RCV003771609] |
Chr11:2768831 [GRCh38]
Chr11:2790061 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.387-9G>C |
single nucleotide variant |
Long QT syndrome [RCV001471498] |
Chr11:2527919 [GRCh38]
Chr11:2549149 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) |
deletion |
Cardiac arrhythmia [RCV001842086]|Cardiovascular phenotype [RCV002405214]|Long QT syndrome [RCV003771586] |
Chr11:2778035..2778036 [GRCh38]
Chr11:2799265..2799266 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.675G>C (p.Ser225=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368270]|Long QT syndrome [RCV001406087] |
Chr11:2571395 [GRCh38]
Chr11:2592625 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.986C>T (p.Ala329Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842110]|Long QT syndrome [RCV003771597] |
Chr11:2583499 [GRCh38]
Chr11:2604729 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.417C>T (p.Phe139=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842111]|Long QT syndrome [RCV003647839] |
Chr11:2527958 [GRCh38]
Chr11:2549188 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842147]|Long QT syndrome [RCV002568119] |
Chr11:2847992 [GRCh38]
Chr11:2869222 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1356G>A (p.Arg452=) |
single nucleotide variant |
Long QT syndrome [RCV001488931] |
Chr11:2588817 [GRCh38]
Chr11:2610047 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter) |
single nucleotide variant |
Long QT syndrome [RCV001381041] |
Chr11:2777030 [GRCh38]
Chr11:2798260 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.483C>A (p.Ile161=) |
single nucleotide variant |
Long QT syndrome [RCV001411937]|not provided [RCV001638086] |
Chr11:2570633 [GRCh38]
Chr11:2591863 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1341C>T (p.Pro447=) |
single nucleotide variant |
Long QT syndrome [RCV001446030] |
Chr11:2588802 [GRCh38]
Chr11:2610032 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1685+8C>T |
single nucleotide variant |
Long QT syndrome [RCV001394367]|not provided [RCV001713141] |
Chr11:2776062 [GRCh38]
Chr11:2797292 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.975G>A (p.Gly325=) |
single nucleotide variant |
Long QT syndrome [RCV001399413] |
Chr11:2583488 [GRCh38]
Chr11:2604718 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs) |
deletion |
Long QT syndrome [RCV001389871] |
Chr11:2587623 [GRCh38]
Chr11:2608853 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2549148)_(2549258_?)del |
deletion |
Long QT syndrome [RCV001388211] |
Chr11:2549148..2549258 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2797170)_(2798282_?)del |
deletion |
Long QT syndrome [RCV001388212] |
Chr11:2797170..2798282 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2591848)_(2592643_?)del |
deletion |
Long QT syndrome [RCV001388213] |
Chr11:2591848..2592643 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2604665)_(2610084_?)del |
deletion |
Long QT syndrome [RCV001388214] |
Chr11:2604665..2610084 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2606422)_(2608942_?)del |
deletion |
Long QT syndrome [RCV001388215] |
Chr11:2606422..2608942 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.385del (p.Val129fs) |
deletion |
Long QT syndrome [RCV001388735] |
Chr11:2445483 [GRCh38]
Chr11:2466713 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1975C>T (p.Leu659=) |
single nucleotide variant |
Long QT syndrome [RCV001445426] |
Chr11:2847947 [GRCh38]
Chr11:2869177 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.683+171G>A |
single nucleotide variant |
not provided [RCV001534457] |
Chr11:2571574 [GRCh38]
Chr11:2592804 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-1G>C |
single nucleotide variant |
Long QT syndrome [RCV001377231] |
Chr11:2661960 [GRCh38]
Chr11:2683190 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs) |
deletion |
Long QT syndrome [RCV001385612] |
Chr11:2445252..2445267 [GRCh38]
Chr11:2466482..2466497 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.477+4C>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001842096] |
Chr11:2528022 [GRCh38]
Chr11:2549252 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1795-129G>A |
single nucleotide variant |
not provided [RCV001610274] |
Chr11:2847638 [GRCh38]
Chr11:2868868 [GRCh37]
Chr11:11p15.4 |
benign |
| NM_000218.3(KCNQ1):c.301T>C (p.Leu101=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160815]|Long QT syndrome [RCV001450229] |
Chr11:2445399 [GRCh38]
Chr11:2466629 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.605-10C>T |
single nucleotide variant |
Long QT syndrome [RCV001494703] |
Chr11:2571315 [GRCh38]
Chr11:2592545 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.852G>A (p.Glu284=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842128] |
Chr11:2572917 [GRCh38]
Chr11:2594147 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.546C>T (p.Ser182=) |
single nucleotide variant |
not provided [RCV001614947] |
Chr11:2570696 [GRCh38]
Chr11:2591926 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.683+10T>C |
single nucleotide variant |
Long QT syndrome [RCV001450984] |
Chr11:2571413 [GRCh38]
Chr11:2592643 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1079G>A (p.Arg360Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842141] |
Chr11:2585258 [GRCh38]
Chr11:2606488 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1733-17T>G |
single nucleotide variant |
not provided [RCV001713258] |
Chr11:2777959 [GRCh38]
Chr11:2799189 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1096C>A (p.Arg366=) |
single nucleotide variant |
Long QT syndrome [RCV001458603] |
Chr11:2585275 [GRCh38]
Chr11:2606505 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+46A>G |
single nucleotide variant |
not provided [RCV001684601] |
Chr11:2662127 [GRCh38]
Chr11:2683357 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg) |
single nucleotide variant |
Long QT syndrome [RCV003533013]|not provided [RCV001593559] |
Chr11:2585279 [GRCh38]
Chr11:2606509 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1394-41G>T |
single nucleotide variant |
not provided [RCV001593561] |
Chr11:2661920 [GRCh38]
Chr11:2683150 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.165G>T (p.Ala55=) |
single nucleotide variant |
Long QT syndrome [RCV001506701] |
Chr11:2445263 [GRCh38]
Chr11:2466493 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1732+316_1732+317insCTGGGCCTGGGG |
insertion |
not provided [RCV001667000] |
Chr11:2777341..2777342 [GRCh38]
Chr11:2798571..2798572 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1563G>A (p.Gln521=) |
single nucleotide variant |
Long QT syndrome [RCV001496936] |
Chr11:2768892 [GRCh38]
Chr11:2790122 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.477+4901A>G |
single nucleotide variant |
Long QT syndrome [RCV001511443] |
Chr11:2532919 [GRCh38]
Chr11:2554149 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1035G>A (p.Gly345=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842051]|Long QT syndrome [RCV001497039] |
Chr11:2585214 [GRCh38]
Chr11:2606444 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser) |
single nucleotide variant |
not provided [RCV001584993] |
Chr11:2572976 [GRCh38]
Chr11:2594206 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.282C>T (p.Tyr94=) |
single nucleotide variant |
Long QT syndrome [RCV001463247]|not provided [RCV003311993] |
Chr11:2445380 [GRCh38]
Chr11:2466610 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.169_170insATCGCGCCC (p.Gly57delinsAspArgAlaArg) |
insertion |
not provided [RCV001586850] |
Chr11:2445267..2445268 [GRCh38]
Chr11:2466497..2466498 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.531C>G (p.Ser177=) |
single nucleotide variant |
Long QT syndrome [RCV001497870] |
Chr11:2570681 [GRCh38]
Chr11:2591911 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.387-250C>T |
single nucleotide variant |
not provided [RCV001592186] |
Chr11:2527678 [GRCh38]
Chr11:2548908 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1995G>T (p.Leu665=) |
single nucleotide variant |
Long QT syndrome [RCV001484871] |
Chr11:2847967 [GRCh38]
Chr11:2869197 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.781-177G>A |
single nucleotide variant |
not provided [RCV001590605] |
Chr11:2572669 [GRCh38]
Chr11:2593899 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.781-99A>G |
single nucleotide variant |
not provided [RCV001540761] |
Chr11:2572747 [GRCh38]
Chr11:2593977 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.478-7C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842118] |
Chr11:2570621 [GRCh38]
Chr11:2591851 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1911C>T (p.His637=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842123]|Long QT syndrome [RCV003533006] |
Chr11:2847883 [GRCh38]
Chr11:2869113 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.387-3C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842124] |
Chr11:2527925 [GRCh38]
Chr11:2549155 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.2028C>T (p.Ser676=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842129] |
Chr11:2848000 [GRCh38]
Chr11:2869230 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.930C>A (p.Val310=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842131]|Cardiovascular phenotype [RCV002377894] |
Chr11:2583443 [GRCh38]
Chr11:2604673 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1402A>G (p.Ser468Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842133] |
Chr11:2661969 [GRCh38]
Chr11:2683199 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.249G>T (p.Pro83=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432364]|Long QT syndrome [RCV001486022] |
Chr11:2445347 [GRCh38]
Chr11:2466577 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.477+3521G>A |
single nucleotide variant |
Long QT syndrome [RCV001511442] |
Chr11:2531539 [GRCh38]
Chr11:2552769 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842041]|Cardiovascular phenotype [RCV002414110]|Long QT syndrome [RCV001461631]|not specified [RCV002222711] |
Chr11:2847877 [GRCh38]
Chr11:2869107 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1146T>C (p.Tyr382=) |
single nucleotide variant |
Long QT syndrome [RCV001432272] |
Chr11:2587587 [GRCh38]
Chr11:2608817 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1026C>A (p.Leu342=) |
single nucleotide variant |
Long QT syndrome [RCV001500617] |
Chr11:2583539 [GRCh38]
Chr11:2604769 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.267G>A (p.Pro89=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169974]|Long QT syndrome [RCV001398022] |
Chr11:2445365 [GRCh38]
Chr11:2466595 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.780+1G>A |
single nucleotide variant |
Long QT syndrome [RCV001378656] |
Chr11:2572110 [GRCh38]
Chr11:2593340 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1139G>A (p.Arg380Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842062] |
Chr11:2587580 [GRCh38]
Chr11:2608810 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.519C>A (p.Val173=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842068] |
Chr11:2570669 [GRCh38]
Chr11:2591899 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.*2G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842076] |
Chr11:2848005 [GRCh38]
Chr11:2869235 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter) |
single nucleotide variant |
Long QT syndrome [RCV001387614] |
Chr11:2445457 [GRCh38]
Chr11:2466687 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs) |
duplication |
Long QT syndrome [RCV001380620] |
Chr11:2588804..2588805 [GRCh38]
Chr11:2610034..2610035 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.339C>T (p.Phe113=) |
single nucleotide variant |
Long QT syndrome [RCV001426113] |
Chr11:2445437 [GRCh38]
Chr11:2466667 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1870A>G (p.Thr624Ala) |
single nucleotide variant |
Long QT syndrome [RCV002032761]|not provided [RCV001756412] |
Chr11:2847842 [GRCh38]
Chr11:2869072 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.21G>A (p.Pro7=) |
single nucleotide variant |
Long QT syndrome [RCV003104858] |
Chr11:2445119 [GRCh38]
Chr11:2466349 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+34253G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003903659]|not provided [RCV002275487] |
Chr11:2696334 [GRCh38]
Chr11:2717564 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-27826A>T |
single nucleotide variant |
not provided [RCV002275963] |
Chr11:2634135 [GRCh38]
Chr11:2655365 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+27604G>C |
single nucleotide variant |
not provided [RCV002275966] |
Chr11:2689685 [GRCh38]
Chr11:2710915 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+8126G>A |
single nucleotide variant |
not provided [RCV002276365] |
Chr11:2670207 [GRCh38]
Chr11:2691437 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs) |
duplication |
Long QT syndrome [RCV002032853]|not provided [RCV001770709] |
Chr11:2847842..2847843 [GRCh38]
Chr11:2869072..2869073 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002489771]|Cardiovascular phenotype [RCV003163857]|not provided [RCV001765326] |
Chr11:2570709 [GRCh38]
Chr11:2591939 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1529A>C (p.His510Pro) |
single nucleotide variant |
not provided [RCV001774133] |
Chr11:2768858 [GRCh38]
Chr11:2790088 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.134C>G (p.Pro45Arg) |
single nucleotide variant |
Long QT syndrome [RCV001868576]|not provided [RCV001774430] |
Chr11:2445232 [GRCh38]
Chr11:2466462 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.557G>C (p.Gly186Ala) |
single nucleotide variant |
not specified [RCV001779482] |
Chr11:2570707 [GRCh38]
Chr11:2591937 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1794+6C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842198]|Long QT syndrome [RCV001885276] |
Chr11:2778043 [GRCh38]
Chr11:2799273 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.478-7C>G |
single nucleotide variant |
Cardiac arrhythmia [RCV001842210]|Long QT syndrome [RCV002541434] |
Chr11:2570621 [GRCh38]
Chr11:2591851 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.440A>T (p.Gln147Leu) |
single nucleotide variant |
not provided [RCV001763678] |
Chr11:2527981 [GRCh38]
Chr11:2549211 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386+16221C>A |
single nucleotide variant |
not provided [RCV001754366] |
Chr11:2461705 [GRCh38]
Chr11:2482935 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1731A>G (p.Ser577=) |
single nucleotide variant |
not provided [RCV001756729] |
Chr11:2777031 [GRCh38]
Chr11:2798261 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.605-14C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842178] |
Chr11:2571311 [GRCh38]
Chr11:2592541 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1654C>A (p.Leu552Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842174] |
Chr11:2776023 [GRCh38]
Chr11:2797253 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.837T>C (p.Phe279=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842169] |
Chr11:2572902 [GRCh38]
Chr11:2594132 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1134A>T (p.Ala378=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842177] |
Chr11:2587575 [GRCh38]
Chr11:2608805 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842224] |
Chr11:2847830 [GRCh38]
Chr11:2869060 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.605-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002359276]|Long QT syndrome 1 [RCV001839468]|Long QT syndrome [RCV003647857] |
Chr11:2571323 [GRCh38]
Chr11:2592553 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1514+5G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001842197] |
Chr11:2662086 [GRCh38]
Chr11:2683316 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly) |
duplication |
Cardiac arrhythmia [RCV001842219] |
Chr11:2847831..2847832 [GRCh38]
Chr11:2869061..2869062 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1685+18G>T |
single nucleotide variant |
Long QT syndrome [RCV001971544] |
Chr11:2776072 [GRCh38]
Chr11:2797302 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.889G>C (p.Gly297Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002370426]|Long QT syndrome [RCV001914502] |
Chr11:2572954 [GRCh38]
Chr11:2594184 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.605A>T (p.Asp202Val) |
single nucleotide variant |
Long QT syndrome [RCV002040201] |
Chr11:2571325 [GRCh38]
Chr11:2592555 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.921+1G>A |
single nucleotide variant |
Long QT syndrome 1 [RCV003319486]|Long QT syndrome [RCV001895718] |
Chr11:2572987 [GRCh38]
Chr11:2594217 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1591-20C>T |
single nucleotide variant |
Long QT syndrome [RCV002025021] |
Chr11:2775940 [GRCh38]
Chr11:2797170 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn) |
single nucleotide variant |
Long QT syndrome [RCV001983337]|not provided [RCV002280199] |
Chr11:2572859 [GRCh38]
Chr11:2594089 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1949del (p.Pro650fs) |
deletion |
Long QT syndrome [RCV001872955] |
Chr11:2847919 [GRCh38]
Chr11:2869149 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NC_000011.9:g.(?_2591838)_(2604795_?)dup |
duplication |
Long QT syndrome [RCV001872962] |
Chr11:2591838..2604795 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1354del (p.Arg452fs) |
deletion |
Cardiac arrhythmia [RCV003591903]|Long QT syndrome [RCV001929608] |
Chr11:2588815 [GRCh38]
Chr11:2610045 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1754G>A (p.Ser585Asn) |
single nucleotide variant |
Long QT syndrome [RCV001895168] |
Chr11:2777997 [GRCh38]
Chr11:2799227 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.653A>G (p.Lys218Arg) |
single nucleotide variant |
Long QT syndrome [RCV001927463] |
Chr11:2571373 [GRCh38]
Chr11:2592603 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.791C>G (p.Thr264Ser) |
single nucleotide variant |
Long QT syndrome [RCV001914207] |
Chr11:2572856 [GRCh38]
Chr11:2594086 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.599T>A (p.Ile200Asn) |
single nucleotide variant |
Long QT syndrome [RCV002006725] |
Chr11:2570749 [GRCh38]
Chr11:2591979 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1285A>G (p.Asn429Asp) |
single nucleotide variant |
Long QT syndrome [RCV001927314] |
Chr11:2588746 [GRCh38]
Chr11:2609976 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1004T>G (p.Phe335Cys) |
single nucleotide variant |
Long QT syndrome [RCV002006797] |
Chr11:2583517 [GRCh38]
Chr11:2604747 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 |
copy number gain |
not provided [RCV001825269] |
Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4 |
not provided |
| NM_000218.3(KCNQ1):c.477+2T>C |
single nucleotide variant |
Long QT syndrome [RCV002042088] |
Chr11:2528020 [GRCh38]
Chr11:2549250 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.683+5G>C |
single nucleotide variant |
Long QT syndrome [RCV001890993] |
Chr11:2571408 [GRCh38]
Chr11:2592638 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.2013_*7dup (p.Arg669_Ter677=) |
duplication |
Long QT syndrome [RCV001891872] |
Chr11:2847976..2847977 [GRCh38]
Chr11:2869206..2869207 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr) |
single nucleotide variant |
Long QT syndrome [RCV002001638] |
Chr11:2445447 [GRCh38]
Chr11:2466677 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_001406838.1(KCNQ1):c.478-12807_478-12805del |
deletion |
Long QT syndrome [RCV002034720]|not provided [RCV001843982] |
Chr11:2570626..2570628 [GRCh38]
Chr11:2591856..2591858 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591902]|Long QT syndrome [RCV001926405] |
Chr11:2847950 [GRCh38]
Chr11:2869180 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.89T>C (p.Leu30Pro) |
single nucleotide variant |
Long QT syndrome [RCV001987197] |
Chr11:2445187 [GRCh38]
Chr11:2466417 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs) |
duplication |
Cardiac arrhythmia [RCV003591905]|Long QT syndrome [RCV001970148] |
Chr11:2572072..2572073 [GRCh38]
Chr11:2593302..2593303 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1462G>A (p.Asp488Asn) |
single nucleotide variant |
Long QT syndrome [RCV001983553] |
Chr11:2662029 [GRCh38]
Chr11:2683259 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1795-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002405229]|Jervell and Lange-Nielsen syndrome 1 [RCV001822884]|Long QT syndrome [RCV002568952] |
Chr11:2847765 [GRCh38]
Chr11:2868995 [GRCh37]
Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.605-1G>A |
single nucleotide variant |
Long QT syndrome [RCV001984072] |
Chr11:2571324 [GRCh38]
Chr11:2592554 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1462G>C (p.Asp488His) |
single nucleotide variant |
Long QT syndrome [RCV001895164] |
Chr11:2662029 [GRCh38]
Chr11:2683259 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs) |
duplication |
Long QT syndrome [RCV002007227] |
Chr11:2572975..2572976 [GRCh38]
Chr11:2594205..2594206 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.296C>A (p.Pro99Gln) |
single nucleotide variant |
Long QT syndrome [RCV001964505]|not provided [RCV002224101] |
Chr11:2445394 [GRCh38]
Chr11:2466624 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1252-1G>C |
single nucleotide variant |
Long QT syndrome [RCV003772365]|not provided [RCV001840893] |
Chr11:2588712 [GRCh38]
Chr11:2609942 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.345G>C (p.Glu115Asp) |
single nucleotide variant |
not provided [RCV001843882] |
Chr11:2445443 [GRCh38]
Chr11:2466673 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu) |
single nucleotide variant |
Jervell and Lange-Nielsen syndrome 1 [RCV002466703]|not provided [RCV001824495] |
Chr11:2585285 [GRCh38]
Chr11:2606515 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-2A>G |
single nucleotide variant |
Long QT syndrome [RCV002015865] |
Chr11:2661959 [GRCh38]
Chr11:2683189 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.197_198delinsTA (p.Ser66Leu) |
indel |
Long QT syndrome [RCV001940205] |
Chr11:2445295..2445296 [GRCh38]
Chr11:2466525..2466526 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.382G>C (p.Ala128Pro) |
single nucleotide variant |
Long QT syndrome [RCV001992518] |
Chr11:2445480 [GRCh38]
Chr11:2466710 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-3C>T |
single nucleotide variant |
Long QT syndrome [RCV001905948] |
Chr11:2661958 [GRCh38]
Chr11:2683188 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.357C>T (p.Gly119=) |
single nucleotide variant |
Long QT syndrome [RCV001880570] |
Chr11:2445455 [GRCh38]
Chr11:2466685 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs) |
duplication |
Atrial fibrillation, familial, 3 [RCV003458177]|Long QT syndrome [RCV002037701] |
Chr11:2572099..2572100 [GRCh38]
Chr11:2593329..2593330 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs) |
duplication |
Long QT syndrome [RCV001962891] |
Chr11:2587588..2587589 [GRCh38]
Chr11:2608818..2608819 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.62C>T (p.Pro21Leu) |
single nucleotide variant |
Long QT syndrome [RCV001980470] |
Chr11:2445160 [GRCh38]
Chr11:2466390 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.970G>A (p.Val324Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591900]|Long QT syndrome [RCV001886833] |
Chr11:2583483 [GRCh38]
Chr11:2604713 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398049]|Long QT syndrome [RCV002000557] |
Chr11:2775972 [GRCh38]
Chr11:2797202 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_2683171)_(2683331_?)del |
deletion |
Long QT syndrome [RCV001953639] |
Chr11:2683171..2683331 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1408A>G (p.Thr470Ala) |
single nucleotide variant |
Long QT syndrome [RCV001930966] |
Chr11:2661975 [GRCh38]
Chr11:2683205 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002492062]|Long QT syndrome [RCV001955660] |
Chr11:2662068 [GRCh38]
Chr11:2683298 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp) |
single nucleotide variant |
Long QT syndrome [RCV002014518] |
Chr11:2583486 [GRCh38]
Chr11:2604716 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1886G>T (p.Gly629Val) |
single nucleotide variant |
Long QT syndrome [RCV001879179] |
Chr11:2847858 [GRCh38]
Chr11:2869088 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1239del (p.Lys414fs) |
deletion |
Long QT syndrome [RCV001919769] |
Chr11:2587680 [GRCh38]
Chr11:2608910 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1081C>G (p.Gln361Glu) |
single nucleotide variant |
Long QT syndrome [RCV001957208] |
Chr11:2585260 [GRCh38]
Chr11:2606490 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp) |
single nucleotide variant |
Long QT syndrome [RCV001957847] |
Chr11:2571394 [GRCh38]
Chr11:2592624 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn) |
single nucleotide variant |
Long QT syndrome [RCV001934421] |
Chr11:2583456 [GRCh38]
Chr11:2604686 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.804C>A (p.Ile268=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591909]|Long QT syndrome [RCV002050342] |
Chr11:2572869 [GRCh38]
Chr11:2594099 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.858C>A (p.Asp286Glu) |
single nucleotide variant |
Long QT syndrome [RCV002047633] |
Chr11:2572923 [GRCh38]
Chr11:2594153 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1844A>G (p.Gln615Arg) |
single nucleotide variant |
Long QT syndrome [RCV001866838] |
Chr11:2847816 [GRCh38]
Chr11:2869046 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.581C>T (p.Ala194Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359398]|Long QT syndrome [RCV001901696] |
Chr11:2570731 [GRCh38]
Chr11:2591961 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.575G>T (p.Arg192Leu) |
single nucleotide variant |
Long QT syndrome [RCV001935169] |
Chr11:2570725 [GRCh38]
Chr11:2591955 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Long QT syndrome [RCV001920661] |
Chr11:2583472 [GRCh38]
Chr11:2604702 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.2013_*7del (p.Pro672fs) |
deletion |
Long QT syndrome [RCV001881395] |
Chr11:2847977..2848002 [GRCh38]
Chr11:2869207..2869232 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.137C>A (p.Ala46Glu) |
single nucleotide variant |
Long QT syndrome [RCV001982445] |
Chr11:2445235 [GRCh38]
Chr11:2466465 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1377C>G (p.Asp459Glu) |
single nucleotide variant |
Long QT syndrome [RCV001990209] |
Chr11:2588838 [GRCh38]
Chr11:2610068 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.45G>T (p.Trp15Cys) |
single nucleotide variant |
Long QT syndrome [RCV002029920] |
Chr11:2445143 [GRCh38]
Chr11:2466373 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter) |
single nucleotide variant |
Long QT syndrome [RCV001953579] |
Chr11:2445400 [GRCh38]
Chr11:2466630 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1132G>A (p.Ala378Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002324285]|Long QT syndrome [RCV001901030] |
Chr11:2587573 [GRCh38]
Chr11:2608803 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1747C>A (p.Arg583Ser) |
single nucleotide variant |
Long QT syndrome [RCV001915817] |
Chr11:2777990 [GRCh38]
Chr11:2799220 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1127A>G (p.Gln376Arg) |
single nucleotide variant |
Long QT syndrome [RCV001924839] |
Chr11:2585306 [GRCh38]
Chr11:2606536 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.844C>T (p.Leu282=) |
single nucleotide variant |
Long QT syndrome [RCV001955184] |
Chr11:2572909 [GRCh38]
Chr11:2594139 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.9:g.(?_2790054)_(2799287_?)del |
deletion |
Long QT syndrome [RCV001918704] |
Chr11:2790054..2799287 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1128+2T>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002443029]|Long QT syndrome [RCV002015858] |
Chr11:2585309 [GRCh38]
Chr11:2606539 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs) |
deletion |
Long QT syndrome [RCV001939479]|not provided [RCV003222371] |
Chr11:2445458..2445467 [GRCh38]
Chr11:2466688..2466697 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2604645)_(2604795_?)del |
deletion |
Long QT syndrome [RCV001960725] |
Chr11:2604645..2604795 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.837dup (p.Val280fs) |
duplication |
Long QT syndrome [RCV001939513] |
Chr11:2572899..2572900 [GRCh38]
Chr11:2594129..2594130 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1936G>T (p.Gly646Cys) |
single nucleotide variant |
Long QT syndrome [RCV001936759] |
Chr11:2847908 [GRCh38]
Chr11:2869138 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs) |
deletion |
Long QT syndrome [RCV001955483] |
Chr11:2572097..2572100 [GRCh38]
Chr11:2593327..2593330 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs) |
deletion |
Long QT syndrome [RCV001992492] |
Chr11:2587648..2587660 [GRCh38]
Chr11:2608878..2608890 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.770T>G (p.Ile257Ser) |
single nucleotide variant |
Long QT syndrome [RCV002010166] |
Chr11:2572099 [GRCh38]
Chr11:2593329 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_2591848)_(2683321_?)del |
deletion |
Long QT syndrome [RCV001959144] |
Chr11:2591848..2683321 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.386+1G>T |
single nucleotide variant |
Long QT syndrome [RCV002036179] |
Chr11:2445485 [GRCh38]
Chr11:2466715 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1755C>G (p.Ser585Arg) |
single nucleotide variant |
Long QT syndrome [RCV001921193] |
Chr11:2777998 [GRCh38]
Chr11:2799228 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.684-15C>T |
single nucleotide variant |
Long QT syndrome [RCV001940409] |
Chr11:2571998 [GRCh38]
Chr11:2593228 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.686G>T (p.Gly229Val) |
single nucleotide variant |
Long QT syndrome [RCV002049646] |
Chr11:2572015 [GRCh38]
Chr11:2593245 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.919del (p.Val307fs) |
deletion |
Cardiovascular phenotype [RCV002370612]|Long QT syndrome [RCV001953881] |
Chr11:2572979 [GRCh38]
Chr11:2594209 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter) |
single nucleotide variant |
Long QT syndrome [RCV001930382] |
Chr11:2572029 [GRCh38]
Chr11:2593259 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1780C>A (p.Arg594=) |
single nucleotide variant |
Long QT syndrome [RCV002026617] |
Chr11:2778023 [GRCh38]
Chr11:2799253 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu) |
single nucleotide variant |
Long QT syndrome [RCV001976987] |
Chr11:2583531 [GRCh38]
Chr11:2604761 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1733-2A>G |
single nucleotide variant |
Long QT syndrome [RCV001920902] |
Chr11:2777974 [GRCh38]
Chr11:2799204 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.679A>G (p.Ile227Val) |
single nucleotide variant |
Long QT syndrome [RCV001932829] |
Chr11:2571399 [GRCh38]
Chr11:2592629 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs) |
duplication |
Long QT syndrome [RCV001935517] |
Chr11:2583446..2583447 [GRCh38]
Chr11:2604676..2604677 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.335A>G (p.Asn112Ser) |
single nucleotide variant |
not provided [RCV002224287] |
Chr11:2445433 [GRCh38]
Chr11:2466663 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1977G>T (p.Leu659=) |
single nucleotide variant |
Long QT syndrome [RCV002186723] |
Chr11:2847949 [GRCh38]
Chr11:2869179 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1032+7G>A |
single nucleotide variant |
Long QT syndrome [RCV002075996] |
Chr11:2583552 [GRCh38]
Chr11:2604782 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.484G>C (p.Val162Leu) |
single nucleotide variant |
not provided [RCV002224534] |
Chr11:2570634 [GRCh38]
Chr11:2591864 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.111G>C (p.Ser37=) |
single nucleotide variant |
Long QT syndrome [RCV002091111] |
Chr11:2445209 [GRCh38]
Chr11:2466439 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591912]|Long QT syndrome [RCV002209736] |
Chr11:2662061 [GRCh38]
Chr11:2683291 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.207G>A (p.Ala69=) |
single nucleotide variant |
Long QT syndrome [RCV002109577] |
Chr11:2445305 [GRCh38]
Chr11:2466535 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1590+20T>C |
single nucleotide variant |
Long QT syndrome [RCV002128794] |
Chr11:2768939 [GRCh38]
Chr11:2790169 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1590+18C>G |
single nucleotide variant |
Long QT syndrome [RCV002186529] |
Chr11:2768937 [GRCh38]
Chr11:2790167 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.293G>C (p.Arg98Pro) |
single nucleotide variant |
not provided [RCV002224415] |
Chr11:2445391 [GRCh38]
Chr11:2466621 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.604+19G>A |
single nucleotide variant |
Long QT syndrome [RCV002106558] |
Chr11:2570773 [GRCh38]
Chr11:2592003 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1686-18C>G |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV002494377]|Long QT syndrome [RCV002108977] |
Chr11:2776968 [GRCh38]
Chr11:2798198 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.921+13C>T |
single nucleotide variant |
Long QT syndrome [RCV002207743] |
Chr11:2572999 [GRCh38]
Chr11:2594229 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1153G>C (p.Glu385Gln) |
single nucleotide variant |
not provided [RCV002223586] |
Chr11:2587594 [GRCh38]
Chr11:2608824 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.754G>C (p.Gly252Arg) |
single nucleotide variant |
not provided [RCV002223369] |
Chr11:2572083 [GRCh38]
Chr11:2593313 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+9C>T |
single nucleotide variant |
Long QT syndrome [RCV002127951] |
Chr11:2588863 [GRCh38]
Chr11:2610093 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.669C>T (p.Ala223=) |
single nucleotide variant |
Long QT syndrome [RCV002087448] |
Chr11:2571389 [GRCh38]
Chr11:2592619 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.411C>T (p.Leu137=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325668]|Long QT syndrome [RCV002128156] |
Chr11:2527952 [GRCh38]
Chr11:2549182 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1113A>T (p.Ala371=) |
single nucleotide variant |
Long QT syndrome [RCV002076688] |
Chr11:2585292 [GRCh38]
Chr11:2606522 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1032+8C>T |
single nucleotide variant |
Long QT syndrome [RCV002172596] |
Chr11:2583553 [GRCh38]
Chr11:2604783 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1674G>A (p.Glu558=) |
single nucleotide variant |
Long QT syndrome [RCV002172416] |
Chr11:2776043 [GRCh38]
Chr11:2797273 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.478-16C>T |
single nucleotide variant |
Long QT syndrome [RCV002097537] |
Chr11:2570612 [GRCh38]
Chr11:2591842 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1591-18T>C |
single nucleotide variant |
Long QT syndrome [RCV002130993] |
Chr11:2775942 [GRCh38]
Chr11:2797172 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1236C>G (p.Pro412=) |
single nucleotide variant |
Long QT syndrome [RCV002170881] |
Chr11:2587677 [GRCh38]
Chr11:2608907 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+32464G>A |
single nucleotide variant |
Long QT syndrome [RCV002132262] |
Chr11:2477948 [GRCh38]
Chr11:2499178 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+10T>C |
single nucleotide variant |
Long QT syndrome [RCV002113169] |
Chr11:2662091 [GRCh38]
Chr11:2683321 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.387-15G>A |
single nucleotide variant |
Long QT syndrome [RCV002094562] |
Chr11:2527913 [GRCh38]
Chr11:2549143 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454351]|Long QT syndrome [RCV002170039] |
Chr11:2583524 [GRCh38]
Chr11:2604754 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1794+15C>T |
single nucleotide variant |
Long QT syndrome [RCV002107319] |
Chr11:2778052 [GRCh38]
Chr11:2799282 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1732+15C>T |
single nucleotide variant |
Long QT syndrome [RCV002116284] |
Chr11:2777047 [GRCh38]
Chr11:2798277 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1776G>A (p.Leu592=) |
single nucleotide variant |
Long QT syndrome [RCV002196679] |
Chr11:2778019 [GRCh38]
Chr11:2799249 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.408C>T (p.Cys136=) |
single nucleotide variant |
Long QT syndrome [RCV002168126] |
Chr11:2527949 [GRCh38]
Chr11:2549179 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.981C>T (p.Thr327=) |
single nucleotide variant |
Long QT syndrome [RCV002173283] |
Chr11:2583494 [GRCh38]
Chr11:2604724 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.189C>G (p.Pro63=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407331]|Long QT syndrome [RCV002097116] |
Chr11:2445287 [GRCh38]
Chr11:2466517 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.683+19C>T |
single nucleotide variant |
Long QT syndrome [RCV002096403] |
Chr11:2571422 [GRCh38]
Chr11:2592652 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1590+10G>A |
single nucleotide variant |
Long QT syndrome [RCV002093420] |
Chr11:2768929 [GRCh38]
Chr11:2790159 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1032+12G>A |
single nucleotide variant |
Long QT syndrome [RCV002198436] |
Chr11:2583557 [GRCh38]
Chr11:2604787 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1033-5C>T |
single nucleotide variant |
Long QT syndrome [RCV002119291] |
Chr11:2585207 [GRCh38]
Chr11:2606437 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1129-17C>A |
single nucleotide variant |
Long QT syndrome [RCV002154036] |
Chr11:2587553 [GRCh38]
Chr11:2608783 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-18C>G |
single nucleotide variant |
Long QT syndrome [RCV002098363]|not provided [RCV003395385] |
Chr11:2661943 [GRCh38]
Chr11:2683173 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1795-20G>A |
single nucleotide variant |
Long QT syndrome [RCV002183232] |
Chr11:2847747 [GRCh38]
Chr11:2868977 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.683+7C>G |
single nucleotide variant |
Long QT syndrome [RCV002122310] |
Chr11:2571410 [GRCh38]
Chr11:2592640 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1188C>A (p.Ile396=) |
single nucleotide variant |
Long QT syndrome [RCV002159132] |
Chr11:2587629 [GRCh38]
Chr11:2608859 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.147G>T (p.Ala49=) |
single nucleotide variant |
Long QT syndrome [RCV002184346] |
Chr11:2445245 [GRCh38]
Chr11:2466475 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.683+16A>G |
single nucleotide variant |
Long QT syndrome [RCV002180591] |
Chr11:2571419 [GRCh38]
Chr11:2592649 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1449C>T (p.Asn483=) |
single nucleotide variant |
Long QT syndrome [RCV002220764] |
Chr11:2662016 [GRCh38]
Chr11:2683246 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.684-17C>T |
single nucleotide variant |
Long QT syndrome [RCV002200577] |
Chr11:2571996 [GRCh38]
Chr11:2593226 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.225T>G (p.Val75=) |
single nucleotide variant |
Long QT syndrome [RCV002217365] |
Chr11:2445323 [GRCh38]
Chr11:2466553 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8C>G |
single nucleotide variant |
Long QT syndrome [RCV002178584] |
Chr11:2661953 [GRCh38]
Chr11:2683183 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1548C>T (p.Val516=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398180]|Long QT syndrome [RCV002200037] |
Chr11:2768877 [GRCh38]
Chr11:2790107 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.605-18C>A |
single nucleotide variant |
Long QT syndrome [RCV002098514] |
Chr11:2571307 [GRCh38]
Chr11:2592537 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1221A>G (p.Ser407=) |
single nucleotide variant |
Long QT syndrome [RCV002184029] |
Chr11:2587662 [GRCh38]
Chr11:2608892 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+13A>G |
single nucleotide variant |
Long QT syndrome [RCV002201102] |
Chr11:2662094 [GRCh38]
Chr11:2683324 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1685+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002201134] |
Chr11:2776071 [GRCh38]
Chr11:2797301 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.9:g.(?_1278740)_(2906719_?)dup |
duplication |
Autosomal recessive DOPA responsive dystonia [RCV003113999] |
Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NC_000011.9:g.(?_721044)_(3988932_?)dup |
duplication |
not provided [RCV003113442] |
Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1952A>C (p.Glu651Ala) |
single nucleotide variant |
Long QT syndrome [RCV003118847] |
Chr11:2847924 [GRCh38]
Chr11:2869154 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.64G>T (p.Gly22Cys) |
single nucleotide variant |
Long QT syndrome [RCV003121692] |
Chr11:2445162 [GRCh38]
Chr11:2466392 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_2466329)_(2869233_?)del |
deletion |
Long QT syndrome [RCV003122189] |
Chr11:2466329..2869233 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NC_000011.9:g.(?_2466329)_(2466734_?)del |
deletion |
Long QT syndrome [RCV003122190] |
Chr11:2466329..2466734 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2799186)_(2799287_?)del |
deletion |
Long QT syndrome [RCV003122191] |
Chr11:2799186..2799287 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2591838)_(2610104_?)del |
deletion |
Long QT syndrome [RCV003122192] |
Chr11:2591838..2610104 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NC_000011.9:g.(?_2629548)_(2721238_?)dup |
duplication |
Long QT syndrome [RCV003122193] |
Chr11:2629548..2721238 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NC_000011.9:g.(?_2790054)_(2799287_?)dup |
duplication |
Long QT syndrome [RCV003122194] |
Chr11:2790054..2799287 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NC_000011.9:g.(?_2549138)_(2610104_?)dup |
duplication |
Long QT syndrome [RCV003122195] |
Chr11:2549138..2610104 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NC_000011.9:g.(?_2549148)_(2683321_?)dup |
duplication |
Long QT syndrome [RCV003122196] |
Chr11:2549148..2683321 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.9:g.(?_2591838)_(2610104_?)dup |
duplication |
Long QT syndrome [RCV003122197] |
Chr11:2591838..2610104 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1514+19929G>C |
single nucleotide variant |
not provided [RCV002275965] |
Chr11:2682010 [GRCh38]
Chr11:2703240 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+30563C>A |
single nucleotide variant |
not provided [RCV002275967] |
Chr11:2692644 [GRCh38]
Chr11:2713874 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+31090T>C |
single nucleotide variant |
not provided [RCV002275968] |
Chr11:2693171 [GRCh38]
Chr11:2714401 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+2631G>T |
single nucleotide variant |
not provided [RCV002276363] |
Chr11:2664712 [GRCh38]
Chr11:2685942 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+9724A>G |
single nucleotide variant |
not provided [RCV002276366] |
Chr11:2671805 [GRCh38]
Chr11:2693035 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg) |
single nucleotide variant |
Long QT syndrome [RCV003094059]|not provided [RCV002247183] |
Chr11:2572850 [GRCh38]
Chr11:2594080 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1394-18524C>T |
single nucleotide variant |
not provided [RCV002262318] |
Chr11:2643437 [GRCh38]
Chr11:2664667 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-2822A>G |
single nucleotide variant |
not provided [RCV002262326] |
Chr11:2659139 [GRCh38]
Chr11:2680369 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-546T>C |
single nucleotide variant |
not provided [RCV002262330] |
Chr11:2661415 [GRCh38]
Chr11:2682645 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+3964C>T |
single nucleotide variant |
not provided [RCV002262333] |
Chr11:2666045 [GRCh38]
Chr11:2687275 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+6015A>G |
single nucleotide variant |
not provided [RCV002262337] |
Chr11:2668096 [GRCh38]
Chr11:2689326 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+29660G>A |
single nucleotide variant |
not provided [RCV002262346] |
Chr11:2691741 [GRCh38]
Chr11:2712971 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+30869G>A |
single nucleotide variant |
not provided [RCV002262347] |
Chr11:2692950 [GRCh38]
Chr11:2714180 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-33886C>T |
single nucleotide variant |
not provided [RCV002275961] |
Chr11:2628075 [GRCh38]
Chr11:2649305 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-27928A>G |
single nucleotide variant |
not provided [RCV002275962] |
Chr11:2634033 [GRCh38]
Chr11:2655263 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter) |
single nucleotide variant |
Long QT syndrome 1 [RCV002287218] |
Chr11:2662026 [GRCh38]
Chr11:2683256 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1394-15642T>C |
single nucleotide variant |
not provided [RCV002292803] |
Chr11:2646319 [GRCh38]
Chr11:2667549 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-5548C>T |
single nucleotide variant |
not provided [RCV002292810] |
Chr11:2656413 [GRCh38]
Chr11:2677643 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+6606T>G |
single nucleotide variant |
not provided [RCV002292821] |
Chr11:2668687 [GRCh38]
Chr11:2689917 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+24261G>C |
single nucleotide variant |
not provided [RCV002292825] |
Chr11:2686342 [GRCh38]
Chr11:2707572 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+31367T>A |
single nucleotide variant |
not provided [RCV002292790] |
Chr11:2620221 [GRCh38]
Chr11:2641451 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32122dup |
duplication |
KCNQ1-related condition [RCV003960988]|not provided [RCV002292791] |
Chr11:2620970..2620971 [GRCh38]
Chr11:2642200..2642201 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-28889C>T |
single nucleotide variant |
not provided [RCV002292796] |
Chr11:2633072 [GRCh38]
Chr11:2654302 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-16311G>A |
single nucleotide variant |
not provided [RCV002292802] |
Chr11:2645650 [GRCh38]
Chr11:2666880 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-7402G>A |
single nucleotide variant |
not provided [RCV002292807] |
Chr11:2654559 [GRCh38]
Chr11:2675789 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1392C>T |
single nucleotide variant |
not provided [RCV002292815] |
Chr11:2660569 [GRCh38]
Chr11:2681799 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+737G>A |
single nucleotide variant |
not provided [RCV002292817] |
Chr11:2662818 [GRCh38]
Chr11:2684048 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+5497G>A |
single nucleotide variant |
not provided [RCV002292820] |
Chr11:2667578 [GRCh38]
Chr11:2688808 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+22427G>A |
single nucleotide variant |
not provided [RCV002262308] |
Chr11:2611281 [GRCh38]
Chr11:2632511 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32039G>A |
single nucleotide variant |
not provided [RCV002262314] |
Chr11:2620893 [GRCh38]
Chr11:2642123 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-33374G>A |
single nucleotide variant |
not provided [RCV002262317] |
Chr11:2628587 [GRCh38]
Chr11:2649817 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+9977C>G |
single nucleotide variant |
not provided [RCV002262339] |
Chr11:2672058 [GRCh38]
Chr11:2693288 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+10977G>A |
single nucleotide variant |
not provided [RCV002262341] |
Chr11:2673058 [GRCh38]
Chr11:2694288 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+17377T>C |
single nucleotide variant |
not provided [RCV002262343] |
Chr11:2679458 [GRCh38]
Chr11:2700688 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13097G>T |
single nucleotide variant |
not provided [RCV002262323] |
Chr11:2648864 [GRCh38]
Chr11:2670094 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-2500G>A |
single nucleotide variant |
not provided [RCV002262327] |
Chr11:2659461 [GRCh38]
Chr11:2680691 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.268C>T (p.Arg90Cys) |
single nucleotide variant |
Long QT syndrome [RCV003647867]|not provided [RCV002286022] |
Chr11:2445366 [GRCh38]
Chr11:2466596 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+33929C>T |
single nucleotide variant |
not provided [RCV002262315] |
Chr11:2622783 [GRCh38]
Chr11:2644013 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13234C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003933720]|not provided [RCV002262322] |
Chr11:2648727 [GRCh38]
Chr11:2669957 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1572T>A |
single nucleotide variant |
KCNQ1-related condition [RCV003903645]|not provided [RCV002262329] |
Chr11:2660389 [GRCh38]
Chr11:2681619 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+4103G>A |
single nucleotide variant |
not provided [RCV002262334] |
Chr11:2666184 [GRCh38]
Chr11:2687414 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4493A>T |
single nucleotide variant |
KCNQ1-related condition [RCV003960975]|not provided [RCV002262335] |
Chr11:2666574 [GRCh38]
Chr11:2687804 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+20645G>C |
single nucleotide variant |
not provided [RCV002275484] |
Chr11:2609499 [GRCh38]
Chr11:2630729 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+734C>T |
single nucleotide variant |
not provided [RCV002275964] |
Chr11:2662815 [GRCh38]
Chr11:2684045 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31864G>A |
single nucleotide variant |
not provided [RCV002275485] |
Chr11:2620718 [GRCh38]
Chr11:2641948 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-36145G>A |
single nucleotide variant |
not provided [RCV002275486] |
Chr11:2625816 [GRCh38]
Chr11:2647046 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+6535T>A |
single nucleotide variant |
not provided [RCV002276364] |
Chr11:2668616 [GRCh38]
Chr11:2689846 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+24722T>C |
single nucleotide variant |
not provided [RCV002262309] |
Chr11:2613576 [GRCh38]
Chr11:2634806 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31357del |
deletion |
not provided [RCV002262313] |
Chr11:2620211 [GRCh38]
Chr11:2641441 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-34447C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003896096]|not provided [RCV002262316] |
Chr11:2627514 [GRCh38]
Chr11:2648744 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-17191G>A |
single nucleotide variant |
not provided [RCV002262319] |
Chr11:2644770 [GRCh38]
Chr11:2666000 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+25804G>A |
single nucleotide variant |
not provided [RCV002262345] |
Chr11:2687885 [GRCh38]
Chr11:2709115 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.2019T>A (p.Asp673Glu) |
single nucleotide variant |
not provided [RCV002283190] |
Chr11:2847991 [GRCh38]
Chr11:2869221 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1630C>A (p.Gln544Lys) |
single nucleotide variant |
not provided [RCV002283341] |
Chr11:2775999 [GRCh38]
Chr11:2797229 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-17009G>A |
single nucleotide variant |
not provided [RCV002262320] |
Chr11:2644952 [GRCh38]
Chr11:2666182 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-12740A>G |
single nucleotide variant |
not provided [RCV002262324] |
Chr11:2649221 [GRCh38]
Chr11:2670451 [GRCh37]
Chr11:11p15.5 |
benign |
| NC_000011.10:g.(499700_4999400)_(5279346_5279697)del |
deletion |
Thalassemia, gamma-delta-beta [RCV000015529] |
Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1393+30318T>C |
single nucleotide variant |
not provided [RCV002262312] |
Chr11:2619172 [GRCh38]
Chr11:2640402 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13763G>A |
single nucleotide variant |
not provided [RCV002262321] |
Chr11:2648198 [GRCh38]
Chr11:2669428 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+5075T>C |
single nucleotide variant |
not provided [RCV002262336] |
Chr11:2667156 [GRCh38]
Chr11:2688386 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+10580T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003903646]|not provided [RCV002262340] |
Chr11:2672661 [GRCh38]
Chr11:2693891 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-11027T>A |
single nucleotide variant |
KCNQ1-related condition [RCV003933721]|not provided [RCV002262325] |
Chr11:2650934 [GRCh38]
Chr11:2672164 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1573del |
deletion |
KCNQ1-related condition [RCV003916422]|not provided [RCV002262328] |
Chr11:2660387 [GRCh38]
Chr11:2681617 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+3197C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003896097]|not provided [RCV002262332] |
Chr11:2665278 [GRCh38]
Chr11:2686508 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+21257T>C |
single nucleotide variant |
not provided [RCV002292788] |
Chr11:2610111 [GRCh38]
Chr11:2631341 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+33832G>A |
single nucleotide variant |
not provided [RCV002292792] |
Chr11:2622686 [GRCh38]
Chr11:2643916 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-36342del |
deletion |
not provided [RCV002292793] |
Chr11:2625617 [GRCh38]
Chr11:2646847 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-29190G>C |
single nucleotide variant |
not provided [RCV002292795] |
Chr11:2632771 [GRCh38]
Chr11:2654001 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-20851A>G |
single nucleotide variant |
not provided [RCV002292797] |
Chr11:2641110 [GRCh38]
Chr11:2662340 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-19457G>T |
single nucleotide variant |
not provided [RCV002292798] |
Chr11:2642504 [GRCh38]
Chr11:2663734 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-17945C>T |
single nucleotide variant |
not provided [RCV002292799] |
Chr11:2644016 [GRCh38]
Chr11:2665246 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-16888C>T |
single nucleotide variant |
not provided [RCV002292801] |
Chr11:2645073 [GRCh38]
Chr11:2666303 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-10848C>G |
single nucleotide variant |
not provided [RCV002292805] |
Chr11:2651113 [GRCh38]
Chr11:2672343 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-6379G>A |
single nucleotide variant |
not provided [RCV002292808] |
Chr11:2655582 [GRCh38]
Chr11:2676812 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1803G>A |
single nucleotide variant |
not provided [RCV002292813] |
Chr11:2660158 [GRCh38]
Chr11:2681388 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1786T>A |
single nucleotide variant |
not provided [RCV002292814] |
Chr11:2660175 [GRCh38]
Chr11:2681405 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+1081C>T |
single nucleotide variant |
not provided [RCV002292818] |
Chr11:2663162 [GRCh38]
Chr11:2684392 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+3377G>A |
single nucleotide variant |
not provided [RCV002292819] |
Chr11:2665458 [GRCh38]
Chr11:2686688 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+7933G>T |
single nucleotide variant |
not provided [RCV002292822] |
Chr11:2670014 [GRCh38]
Chr11:2691244 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+8013G>T |
single nucleotide variant |
not provided [RCV002292823] |
Chr11:2670094 [GRCh38]
Chr11:2691324 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+26871T>C |
single nucleotide variant |
not provided [RCV002292828] |
Chr11:2688952 [GRCh38]
Chr11:2710182 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+29798G>A |
single nucleotide variant |
not provided [RCV002292830] |
Chr11:2691879 [GRCh38]
Chr11:2713109 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile) |
single nucleotide variant |
Long QT syndrome [RCV003318442] |
Chr11:2572882 [GRCh38]
Chr11:2594112 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 |
copy number gain |
See cases [RCV002286351] |
Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2 |
pathogenic |
| NM_000218.3(KCNQ1):c.1393+24489C>T |
single nucleotide variant |
not provided [RCV002292789] |
Chr11:2613343 [GRCh38]
Chr11:2634573 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-17830A>C |
single nucleotide variant |
not provided [RCV002292800] |
Chr11:2644131 [GRCh38]
Chr11:2665361 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13039T>A |
single nucleotide variant |
not provided [RCV002292804] |
Chr11:2648922 [GRCh38]
Chr11:2670152 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-10092T>G |
single nucleotide variant |
not provided [RCV002292806] |
Chr11:2651869 [GRCh38]
Chr11:2673099 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-5515T>C |
single nucleotide variant |
not provided [RCV002292811] |
Chr11:2656446 [GRCh38]
Chr11:2677676 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-3710T>C |
single nucleotide variant |
not provided [RCV002292812] |
Chr11:2658251 [GRCh38]
Chr11:2679481 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+141C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003933741]|not provided [RCV002292816] |
Chr11:2662222 [GRCh38]
Chr11:2683452 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+13841_1514+13842del |
deletion |
not provided [RCV002292824] |
Chr11:2675921..2675922 [GRCh38]
Chr11:2697151..2697152 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.989C>A (p.Ser330Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002387425] |
Chr11:2583502 [GRCh38]
Chr11:2604732 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-29823G>A |
single nucleotide variant |
not provided [RCV002292794] |
Chr11:2632138 [GRCh38]
Chr11:2653368 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-5806C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003971232]|not provided [RCV002292809] |
Chr11:2656155 [GRCh38]
Chr11:2677385 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+25084C>T |
single nucleotide variant |
not provided [RCV002292826] |
Chr11:2687165 [GRCh38]
Chr11:2708395 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+26113G>A |
single nucleotide variant |
not provided [RCV002292827] |
Chr11:2688194 [GRCh38]
Chr11:2709424 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+27917G>T |
single nucleotide variant |
not provided [RCV002292829] |
Chr11:2689998 [GRCh38]
Chr11:2711228 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591957]|Cardiovascular phenotype [RCV002421622]|Long QT syndrome [RCV003097387] |
Chr11:2847928 [GRCh38]
Chr11:2869158 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+27384G>A |
single nucleotide variant |
not provided [RCV002262310] |
Chr11:2616238 [GRCh38]
Chr11:2637468 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+28622C>T |
single nucleotide variant |
not provided [RCV002262311] |
Chr11:2617476 [GRCh38]
Chr11:2638706 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+623G>A |
single nucleotide variant |
not provided [RCV002262331] |
Chr11:2662704 [GRCh38]
Chr11:2683934 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+8895C>T |
single nucleotide variant |
not provided [RCV002262338] |
Chr11:2670976 [GRCh38]
Chr11:2692206 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+11899GGGGT[3] |
microsatellite |
not provided [RCV002262342] |
Chr11:2673979..2673980 [GRCh38]
Chr11:2695209..2695210 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+20004C>T |
single nucleotide variant |
not provided [RCV002262344] |
Chr11:2682085 [GRCh38]
Chr11:2703315 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+37638_1514+37663del |
deletion |
not provided [RCV002262348] |
Chr11:2699708..2699733 [GRCh38]
Chr11:2720938..2720963 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+37682G>A |
single nucleotide variant |
not provided [RCV002262349] |
Chr11:2699763 [GRCh38]
Chr11:2720993 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.2023G>A (p.Gly675Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419638] |
Chr11:2847995 [GRCh38]
Chr11:2869225 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.354C>T (p.Thr118=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454852]|Long QT syndrome [RCV003775661] |
Chr11:2445452 [GRCh38]
Chr11:2466682 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.2022G>A (p.Glu674=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419620]|Long QT syndrome [RCV003101017] |
Chr11:2847994 [GRCh38]
Chr11:2869224 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.2030G>A (p.Ter677=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419787]|Long QT syndrome [RCV003647928] |
Chr11:2848002 [GRCh38]
Chr11:2869232 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.195G>T (p.Ala65=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421714] |
Chr11:2445293 [GRCh38]
Chr11:2466523 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs) |
duplication |
Long QT syndrome 1 [RCV002288332] |
Chr11:2570663..2570664 [GRCh38]
Chr11:2591893..2591894 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs) |
duplication |
Cardiovascular phenotype [RCV002385621] |
Chr11:2588779..2588780 [GRCh38]
Chr11:2610009..2610010 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.588G>A (p.Lys196=) |
single nucleotide variant |
Long QT syndrome [RCV003012049] |
Chr11:2570738 [GRCh38]
Chr11:2591968 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1922C>T (p.Pro641Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410742] |
Chr11:2847894 [GRCh38]
Chr11:2869124 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.647del (p.Gly216fs) |
deletion |
not provided [RCV002464928] |
Chr11:2571365 [GRCh38]
Chr11:2592595 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| NM_000218.3(KCNQ1):c.598ATC[3] (p.Ile201_Asp202insIle) |
microsatellite |
not provided [RCV002464927] |
Chr11:2570746..2570747 [GRCh38]
Chr11:2591976..2591977 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1259A>G (p.Lys420Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412504] |
Chr11:2588720 [GRCh38]
Chr11:2609950 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591956]|Cardiovascular phenotype [RCV002412938] |
Chr11:2847818 [GRCh38]
Chr11:2869048 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414583] |
Chr11:2776986 [GRCh38]
Chr11:2798216 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.228C>T (p.Ala76=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446215]|Long QT syndrome [RCV003101201] |
Chr11:2445326 [GRCh38]
Chr11:2466556 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1515G>A (p.Gln505=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392308] |
Chr11:2768844 [GRCh38]
Chr11:2790074 [GRCh37]
Chr11:11p15.5 |
likely benign |
| GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 |
copy number gain |
not provided [RCV002472435] |
Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1033-1_1117dup |
duplication |
Cardiac arrhythmia [RCV003591951]|Cardiovascular phenotype [RCV002389178]|Long QT syndrome [RCV003533224] |
Chr11:2585210..2585211 [GRCh38]
Chr11:2606440..2606441 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1703G>A (p.Gly568Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406341] |
Chr11:2777003 [GRCh38]
Chr11:2798233 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.894C>A (p.Ser298Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376199] |
Chr11:2572959 [GRCh38]
Chr11:2594189 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.107dup (p.Ser37fs) |
duplication |
Cardiovascular phenotype [RCV002424342] |
Chr11:2445203..2445204 [GRCh38]
Chr11:2466433..2466434 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.383C>T (p.Ala128Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355437] |
Chr11:2445481 [GRCh38]
Chr11:2466711 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1073A>C (p.Lys358Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416966] |
Chr11:2585252 [GRCh38]
Chr11:2606482 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.221dup (p.Val75fs) |
duplication |
Cardiovascular phenotype [RCV002428060] |
Chr11:2445314..2445315 [GRCh38]
Chr11:2466544..2466545 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1420G>T (p.Val474Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391821] |
Chr11:2661987 [GRCh38]
Chr11:2683217 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1724C>T (p.Ser575Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399100] |
Chr11:2777024 [GRCh38]
Chr11:2798254 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro) |
microsatellite |
Cardiovascular phenotype [RCV002406021] |
Chr11:2445250..2445251 [GRCh38]
Chr11:2466480..2466481 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.30C>G (p.Ala10=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325946] |
Chr11:2445128 [GRCh38]
Chr11:2466358 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter) |
single nucleotide variant |
Long QT syndrome 1 [RCV002308729] |
Chr11:2583481 [GRCh38]
Chr11:2604711 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1457C>T (p.Ala486Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394733] |
Chr11:2662024 [GRCh38]
Chr11:2683254 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1032+3A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002396517] |
Chr11:2583548 [GRCh38]
Chr11:2604778 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1785AGA[1] (p.Glu596del) |
microsatellite |
Cardiovascular phenotype [RCV002404169] |
Chr11:2778028..2778030 [GRCh38]
Chr11:2799258..2799260 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400839]|Long QT syndrome [RCV003100705] |
Chr11:2445250 [GRCh38]
Chr11:2466480 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1990C>T (p.Gln664Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423840] |
Chr11:2847962 [GRCh38]
Chr11:2869192 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.-3G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002321171] |
Chr11:2445096 [GRCh38]
Chr11:2466326 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.960C>T (p.Pro320=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591947]|Cardiovascular phenotype [RCV002374360] |
Chr11:2583473 [GRCh38]
Chr11:2604703 [GRCh37]
Chr11:11p15.5 |
likely benign|uncertain significance |
| NM_000218.3(KCNQ1):c.598A>G (p.Ile200Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357865] |
Chr11:2570748 [GRCh38]
Chr11:2591978 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.909G>A (p.Leu303=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450008] |
Chr11:2572974 [GRCh38]
Chr11:2594204 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455448] |
Chr11:2585278 [GRCh38]
Chr11:2606508 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1908C>G (p.Ala636=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408388] |
Chr11:2847880 [GRCh38]
Chr11:2869110 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.-3G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002375651] |
Chr11:2445096 [GRCh38]
Chr11:2466326 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.504G>A (p.Gly168=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335727] |
Chr11:2570654 [GRCh38]
Chr11:2591884 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.843C>T (p.Tyr281=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445936] |
Chr11:2572908 [GRCh38]
Chr11:2594138 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.848C>T (p.Ala283Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447662] |
Chr11:2572913 [GRCh38]
Chr11:2594143 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.420C>A (p.Ser140Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327927] |
Chr11:2527961 [GRCh38]
Chr11:2549191 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1478G>C (p.Gly493Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397072] |
Chr11:2662045 [GRCh38]
Chr11:2683275 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1685+3G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002414560] |
Chr11:2776057 [GRCh38]
Chr11:2797287 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.847G>T (p.Ala283Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447634] |
Chr11:2572912 [GRCh38]
Chr11:2594142 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.702G>A (p.Gln234=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364924] |
Chr11:2572031 [GRCh38]
Chr11:2593261 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.-4C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002343038] |
Chr11:2445095 [GRCh38]
Chr11:2466325 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NC_000011.10:g.2276821_2491742del |
deletion |
Beckwith-Wiedemann syndrome [RCV002302646]|Long QT syndrome 1 [RCV002302645] |
|
pathogenic |
| NM_000218.3(KCNQ1):c.1128+5G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002444346]|Long QT syndrome [RCV003103034] |
Chr11:2585312 [GRCh38]
Chr11:2606542 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423763]|Long QT syndrome [RCV003533248] |
Chr11:2847959 [GRCh38]
Chr11:2869189 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.605-5C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002358282] |
Chr11:2571320 [GRCh38]
Chr11:2592550 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410448]|Long QT syndrome [RCV003097280] |
Chr11:2847798 [GRCh38]
Chr11:2869028 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.386+6T>G |
single nucleotide variant |
Long QT syndrome 1 [RCV002302844] |
Chr11:2445490 [GRCh38]
Chr11:2466720 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.566G>C (p.Gly189Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347358] |
Chr11:2570716 [GRCh38]
Chr11:2591946 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394323]|Long QT syndrome [RCV003095163] |
Chr11:2662006 [GRCh38]
Chr11:2683236 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1794+3A>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002407779] |
Chr11:2778040 [GRCh38]
Chr11:2799270 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.174C>T (p.Ala58=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401558]|Long QT syndrome [RCV003647923] |
Chr11:2445272 [GRCh38]
Chr11:2466502 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.231C>T (p.Ser77=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448107] |
Chr11:2445329 [GRCh38]
Chr11:2466559 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.222A>C (p.Pro74=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002428201] |
Chr11:2445320 [GRCh38]
Chr11:2466550 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1211C>T (p.Thr404Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355778] |
Chr11:2587652 [GRCh38]
Chr11:2608882 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.788T>A (p.Ile263Lys) |
single nucleotide variant |
not provided [RCV002306147] |
Chr11:2572853 [GRCh38]
Chr11:2594083 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412854] |
Chr11:2847813 [GRCh38]
Chr11:2869043 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1923C>T (p.Pro641=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410760]|Long QT syndrome [RCV003647925] |
Chr11:2847895 [GRCh38]
Chr11:2869125 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.467T>G (p.Leu156Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335205] |
Chr11:2528008 [GRCh38]
Chr11:2549238 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1537A>G (p.Thr513Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403058] |
Chr11:2768866 [GRCh38]
Chr11:2790096 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.172G>A (p.Ala58Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407408] |
Chr11:2445270 [GRCh38]
Chr11:2466500 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.315C>T (p.His105=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320912] |
Chr11:2445413 [GRCh38]
Chr11:2466643 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1738A>G (p.Ser580Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407468] |
Chr11:2777981 [GRCh38]
Chr11:2799211 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1845G>T (p.Gln615His) |
single nucleotide variant |
Long QT syndrome [RCV002302399] |
Chr11:2847817 [GRCh38]
Chr11:2869047 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+8939G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003971308]|not provided [RCV002511688] |
Chr11:2671020 [GRCh38]
Chr11:2692250 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+20395GAGT[7] |
microsatellite |
not provided [RCV002511690] |
Chr11:2682476..2682479 [GRCh38]
Chr11:2703706..2703709 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1672G>A (p.Glu558Lys) |
single nucleotide variant |
Long QT syndrome [RCV002904903] |
Chr11:2776041 [GRCh38]
Chr11:2797271 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+30256G>C |
single nucleotide variant |
not provided [RCV002511664] |
Chr11:2619110 [GRCh38]
Chr11:2640340 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31012T>C |
single nucleotide variant |
not provided [RCV002511665] |
Chr11:2619866 [GRCh38]
Chr11:2641096 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31358_1393+31359insATT |
insertion |
not provided [RCV002511666] |
Chr11:2620211..2620212 [GRCh38]
Chr11:2641441..2641442 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-438C>T |
single nucleotide variant |
not provided [RCV002511680] |
Chr11:2661523 [GRCh38]
Chr11:2682753 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3307del |
deletion |
KCNQ1-related condition [RCV003971307]|not provided [RCV002511683] |
Chr11:2665385 [GRCh38]
Chr11:2686615 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+12777_1514+12779dup |
duplication |
not provided [RCV002511689] |
Chr11:2674832..2674833 [GRCh38]
Chr11:2696062..2696063 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs) |
deletion |
Long QT syndrome [RCV002838428] |
Chr11:2768852..2768871 [GRCh38]
Chr11:2790082..2790101 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1794+18C>T |
single nucleotide variant |
Long QT syndrome [RCV002837578] |
Chr11:2778055 [GRCh38]
Chr11:2799285 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs) |
insertion |
Long QT syndrome [RCV002815925] |
Chr11:2571346..2571347 [GRCh38]
Chr11:2592576..2592577 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.477+16G>C |
single nucleotide variant |
Long QT syndrome [RCV002903701] |
Chr11:2528034 [GRCh38]
Chr11:2549264 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1225del (p.Ser409fs) |
deletion |
not provided [RCV002511651] |
Chr11:2587666 [GRCh38]
Chr11:2608896 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1393+20735_1393+20738del |
microsatellite |
not provided [RCV002511653] |
Chr11:2609584..2609587 [GRCh38]
Chr11:2630814..2630817 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+24215A>G |
single nucleotide variant |
not provided [RCV002511655] |
Chr11:2613069 [GRCh38]
Chr11:2634299 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+27338G>A |
single nucleotide variant |
not provided [RCV002511658] |
Chr11:2616192 [GRCh38]
Chr11:2637422 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+29750T>G |
single nucleotide variant |
not provided [RCV002511661] |
Chr11:2618604 [GRCh38]
Chr11:2639834 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+29814G>A |
single nucleotide variant |
not provided [RCV002511662] |
Chr11:2618668 [GRCh38]
Chr11:2639898 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32716A>G |
single nucleotide variant |
not provided [RCV002511669] |
Chr11:2621570 [GRCh38]
Chr11:2642800 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+19784dup |
duplication |
KCNQ1-related condition [RCV003926400]|not provided [RCV002511652] |
Chr11:2608632..2608633 [GRCh38]
Chr11:2629862..2629863 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+32185G>A |
single nucleotide variant |
not provided [RCV002511667] |
Chr11:2621039 [GRCh38]
Chr11:2642269 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-33298C>T |
single nucleotide variant |
not provided [RCV002511672] |
Chr11:2628663 [GRCh38]
Chr11:2649893 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+22624C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003896212]|not provided [RCV002511691] |
Chr11:2684705 [GRCh38]
Chr11:2705935 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.606C>T (p.Asp202=) |
single nucleotide variant |
Long QT syndrome [RCV003076978] |
Chr11:2571326 [GRCh38]
Chr11:2592556 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.921+8_921+15dup |
duplication |
Long QT syndrome [RCV002819303] |
Chr11:2572993..2572994 [GRCh38]
Chr11:2594223..2594224 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1033-19C>T |
single nucleotide variant |
Long QT syndrome [RCV002863658] |
Chr11:2585193 [GRCh38]
Chr11:2606423 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.921+8G>A |
single nucleotide variant |
Long QT syndrome [RCV002755224] |
Chr11:2572994 [GRCh38]
Chr11:2594224 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1732+12T>C |
single nucleotide variant |
Long QT syndrome [RCV002947983] |
Chr11:2777044 [GRCh38]
Chr11:2798274 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1676T>C (p.Leu559Pro) |
single nucleotide variant |
Long QT syndrome [RCV003017573] |
Chr11:2776045 [GRCh38]
Chr11:2797275 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1733-9C>T |
single nucleotide variant |
Long QT syndrome [RCV002882291] |
Chr11:2777967 [GRCh38]
Chr11:2799197 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.954G>A (p.Lys318=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591978]|Long QT syndrome [RCV003076614] |
Chr11:2583467 [GRCh38]
Chr11:2604697 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+15C>A |
single nucleotide variant |
Long QT syndrome [RCV003075329] |
Chr11:2445499 [GRCh38]
Chr11:2466729 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+22149A>T |
single nucleotide variant |
KCNQ1-related condition [RCV003961058]|not provided [RCV002511654] |
Chr11:2611003 [GRCh38]
Chr11:2632233 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+25378A>G |
single nucleotide variant |
not provided [RCV002511657] |
Chr11:2614232 [GRCh38]
Chr11:2635462 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+29461dup |
duplication |
not provided [RCV002511659] |
Chr11:2618308..2618309 [GRCh38]
Chr11:2639538..2639539 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+30231C>T |
single nucleotide variant |
not provided [RCV002511663] |
Chr11:2619085 [GRCh38]
Chr11:2640315 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+33623A>G |
single nucleotide variant |
not provided [RCV002511670] |
Chr11:2622477 [GRCh38]
Chr11:2643707 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+35447T>C |
single nucleotide variant |
not provided [RCV002511671] |
Chr11:2624301 [GRCh38]
Chr11:2645531 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-32971T>A |
single nucleotide variant |
not provided [RCV002511673] |
Chr11:2628990 [GRCh38]
Chr11:2650220 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8114G>A |
single nucleotide variant |
not provided [RCV002511676] |
Chr11:2653847 [GRCh38]
Chr11:2675077 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-1091A>G |
single nucleotide variant |
not provided [RCV002511679] |
Chr11:2660870 [GRCh38]
Chr11:2682100 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4073G>A |
single nucleotide variant |
not provided [RCV002511684] |
Chr11:2666154 [GRCh38]
Chr11:2687384 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+8888C>T |
single nucleotide variant |
not provided [RCV002511687] |
Chr11:2670969 [GRCh38]
Chr11:2692199 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+23200C>G |
single nucleotide variant |
not provided [RCV002511692] |
Chr11:2685281 [GRCh38]
Chr11:2706511 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37471_1514+37472delinsAA |
indel |
not provided [RCV002511694] |
Chr11:2699552..2699553 [GRCh38]
Chr11:2720782..2720783 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+37609G>A |
single nucleotide variant |
not provided [RCV002511696] |
Chr11:2699690 [GRCh38]
Chr11:2720920 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1129-8G>C |
single nucleotide variant |
Long QT syndrome [RCV003014452] |
Chr11:2587562 [GRCh38]
Chr11:2608792 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8641T>C |
single nucleotide variant |
not provided [RCV002511675] |
Chr11:2653320 [GRCh38]
Chr11:2674550 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+560G>A |
single nucleotide variant |
not provided [RCV002511681] |
Chr11:2662641 [GRCh38]
Chr11:2683871 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+7710C>T |
single nucleotide variant |
not provided [RCV002511686] |
Chr11:2669791 [GRCh38]
Chr11:2691021 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+32412C>T |
single nucleotide variant |
not provided [RCV002511693] |
Chr11:2694493 [GRCh38]
Chr11:2715723 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+37472C>G |
single nucleotide variant |
not provided [RCV002511695] |
Chr11:2699553 [GRCh38]
Chr11:2720783 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1795-5C>A |
single nucleotide variant |
Long QT syndrome [RCV002968119] |
Chr11:2847762 [GRCh38]
Chr11:2868992 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1714C>G (p.Leu572Val) |
single nucleotide variant |
Long QT syndrome [RCV002994408] |
Chr11:2777014 [GRCh38]
Chr11:2798244 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+24554C>T |
single nucleotide variant |
not provided [RCV002511656] |
Chr11:2613408 [GRCh38]
Chr11:2634638 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+29738G>A |
single nucleotide variant |
not provided [RCV002511660] |
Chr11:2618592 [GRCh38]
Chr11:2639822 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32192C>T |
single nucleotide variant |
not provided [RCV002511668] |
Chr11:2621046 [GRCh38]
Chr11:2642276 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-32492C>T |
single nucleotide variant |
not provided [RCV002511674] |
Chr11:2629469 [GRCh38]
Chr11:2650699 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-6817T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003971306]|not provided [RCV002511677] |
Chr11:2655144 [GRCh38]
Chr11:2676374 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-3880G>T |
single nucleotide variant |
not provided [RCV002511678] |
Chr11:2658081 [GRCh38]
Chr11:2679311 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+1083C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003903710]|not provided [RCV002511682] |
Chr11:2663164 [GRCh38]
Chr11:2684394 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+5511T>G |
single nucleotide variant |
not provided [RCV002511685] |
Chr11:2667592 [GRCh38]
Chr11:2688822 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.667G>A (p.Ala223Thr) |
single nucleotide variant |
Long QT syndrome [RCV003034142] |
Chr11:2571387 [GRCh38]
Chr11:2592617 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.583C>G (p.Arg195Gly) |
single nucleotide variant |
Long QT syndrome [RCV003076671] |
Chr11:2570733 [GRCh38]
Chr11:2591963 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1251G>T (p.Val417=) |
single nucleotide variant |
Long QT syndrome [RCV002889590] |
Chr11:2587692 [GRCh38]
Chr11:2608922 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003367977]|Long QT syndrome [RCV003081480] |
Chr11:2847934 [GRCh38]
Chr11:2869164 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1128+15A>G |
single nucleotide variant |
Long QT syndrome [RCV002636627] |
Chr11:2585322 [GRCh38]
Chr11:2606552 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.756C>T (p.Gly252=) |
single nucleotide variant |
Long QT syndrome [RCV003021860] |
Chr11:2572085 [GRCh38]
Chr11:2593315 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.720C>A (p.His240Gln) |
single nucleotide variant |
Long QT syndrome [RCV002846513] |
Chr11:2572049 [GRCh38]
Chr11:2593279 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-12C>T |
single nucleotide variant |
Long QT syndrome [RCV002825475] |
Chr11:2661949 [GRCh38]
Chr11:2683179 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1686-14G>A |
single nucleotide variant |
Long QT syndrome [RCV002914351] |
Chr11:2776972 [GRCh38]
Chr11:2798202 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1437C>G (p.Phe479Leu) |
single nucleotide variant |
Long QT syndrome [RCV003055554] |
Chr11:2662004 [GRCh38]
Chr11:2683234 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1699A>G (p.Ile567Val) |
single nucleotide variant |
Long QT syndrome [RCV002786020] |
Chr11:2776999 [GRCh38]
Chr11:2798229 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1317A>G (p.Thr439=) |
single nucleotide variant |
Long QT syndrome [RCV003079436] |
Chr11:2588778 [GRCh38]
Chr11:2610008 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.99G>A (p.Lys33=) |
single nucleotide variant |
Long QT syndrome [RCV002659367] |
Chr11:2445197 [GRCh38]
Chr11:2466427 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-18T>C |
single nucleotide variant |
Long QT syndrome [RCV002705784] |
Chr11:2588695 [GRCh38]
Chr11:2609925 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.370G>T (p.Val124Phe) |
single nucleotide variant |
Long QT syndrome [RCV002979295] |
Chr11:2445468 [GRCh38]
Chr11:2466698 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.36G>A (p.Arg12=) |
single nucleotide variant |
Long QT syndrome [RCV002620188] |
Chr11:2445134 [GRCh38]
Chr11:2466364 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1794+13G>A |
single nucleotide variant |
Long QT syndrome [RCV002927140] |
Chr11:2778050 [GRCh38]
Chr11:2799280 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.2012G>A (p.Gly671Asp) |
single nucleotide variant |
Long QT syndrome [RCV002756870] |
Chr11:2847984 [GRCh38]
Chr11:2869214 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+17G>T |
single nucleotide variant |
Long QT syndrome [RCV002912935] |
Chr11:2662098 [GRCh38]
Chr11:2683328 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.864G>A (p.Val288=) |
single nucleotide variant |
Long QT syndrome [RCV003001985] |
Chr11:2572929 [GRCh38]
Chr11:2594159 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.197C>G (p.Ser66Cys) |
single nucleotide variant |
Long QT syndrome [RCV002979585] |
Chr11:2445295 [GRCh38]
Chr11:2466525 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1202G>C (p.Arg401Pro) |
single nucleotide variant |
Long QT syndrome [RCV002998890] |
Chr11:2587643 [GRCh38]
Chr11:2608873 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.293G>A (p.Arg98His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003164755]|not provided [RCV002510064] |
Chr11:2445391 [GRCh38]
Chr11:2466621 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.554_575del (p.Val185fs) |
deletion |
Long QT syndrome [RCV003019541] |
Chr11:2570702..2570723 [GRCh38]
Chr11:2591932..2591953 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.136_147dup (p.Ala49_Leu50insAlaGlyGlyAla) |
duplication |
Long QT syndrome [RCV002847264] |
Chr11:2445231..2445232 [GRCh38]
Chr11:2466461..2466462 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1690G>A (p.Asp564Asn) |
single nucleotide variant |
Long QT syndrome [RCV002976120]|not provided [RCV003130797] |
Chr11:2776990 [GRCh38]
Chr11:2798220 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1104C>A (p.Ile368=) |
single nucleotide variant |
Long QT syndrome [RCV002912657] |
Chr11:2585283 [GRCh38]
Chr11:2606513 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1893C>A (p.Pro631=) |
single nucleotide variant |
Long QT syndrome [RCV002638205] |
Chr11:2847865 [GRCh38]
Chr11:2869095 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1540A>G (p.Ile514Val) |
single nucleotide variant |
Long QT syndrome [RCV002761637] |
Chr11:2768869 [GRCh38]
Chr11:2790099 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.636C>T (p.Val212=) |
single nucleotide variant |
Long QT syndrome [RCV003021382] |
Chr11:2571356 [GRCh38]
Chr11:2592586 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.387-20G>C |
single nucleotide variant |
Long QT syndrome [RCV003100280] |
Chr11:2527908 [GRCh38]
Chr11:2549138 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1590+8C>T |
single nucleotide variant |
Long QT syndrome [RCV002867658] |
Chr11:2768927 [GRCh38]
Chr11:2790157 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.352A>C (p.Thr118Pro) |
single nucleotide variant |
Long QT syndrome [RCV003054945] |
Chr11:2445450 [GRCh38]
Chr11:2466680 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys) |
single nucleotide variant |
Long QT syndrome [RCV002824447] |
Chr11:2768888 [GRCh38]
Chr11:2790118 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.194C>T (p.Ala65Val) |
single nucleotide variant |
Long QT syndrome [RCV002766650] |
Chr11:2445292 [GRCh38]
Chr11:2466522 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1872C>T (p.Thr624=) |
single nucleotide variant |
Long QT syndrome [RCV002872322] |
Chr11:2847844 [GRCh38]
Chr11:2869074 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1032+19C>T |
single nucleotide variant |
Long QT syndrome [RCV003056778] |
Chr11:2583564 [GRCh38]
Chr11:2604794 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.240C>T (p.Gly80=) |
single nucleotide variant |
Long QT syndrome [RCV002575493] |
Chr11:2445338 [GRCh38]
Chr11:2466568 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+19G>A |
single nucleotide variant |
Long QT syndrome [RCV002576283] |
Chr11:2445503 [GRCh38]
Chr11:2466733 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.7G>C (p.Ala3Pro) |
single nucleotide variant |
Long QT syndrome [RCV002802099] |
Chr11:2445105 [GRCh38]
Chr11:2466335 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.478-19T>C |
single nucleotide variant |
Long QT syndrome [RCV003057388] |
Chr11:2570609 [GRCh38]
Chr11:2591839 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.265C>A (p.Pro89Thr) |
single nucleotide variant |
Long QT syndrome [RCV002745605] |
Chr11:2445363 [GRCh38]
Chr11:2466593 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser) |
indel |
Long QT syndrome [RCV003040375] |
Chr11:2583470..2583471 [GRCh38]
Chr11:2604700..2604701 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.492G>A (p.Val164=) |
single nucleotide variant |
Long QT syndrome [RCV002625645] |
Chr11:2570642 [GRCh38]
Chr11:2591872 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.509A>G (p.Glu170Gly) |
single nucleotide variant |
Long QT syndrome [RCV003058272] |
Chr11:2570659 [GRCh38]
Chr11:2591889 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.921+15T>C |
single nucleotide variant |
Long QT syndrome [RCV002786155] |
Chr11:2573001 [GRCh38]
Chr11:2594231 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1032+3A>T |
single nucleotide variant |
Long QT syndrome [RCV003057515] |
Chr11:2583548 [GRCh38]
Chr11:2604778 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1032+20G>A |
single nucleotide variant |
Long QT syndrome [RCV002664060] |
Chr11:2583565 [GRCh38]
Chr11:2604795 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe) |
single nucleotide variant |
Long QT syndrome [RCV003057219] |
Chr11:2585299 [GRCh38]
Chr11:2606529 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1251+7A>G |
single nucleotide variant |
Long QT syndrome [RCV002663659] |
Chr11:2587699 [GRCh38]
Chr11:2608929 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1260A>G (p.Lys420=) |
single nucleotide variant |
Long QT syndrome [RCV002932645] |
Chr11:2588721 [GRCh38]
Chr11:2609951 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly) |
single nucleotide variant |
Long QT syndrome [RCV003058273] |
Chr11:2572104 [GRCh38]
Chr11:2593334 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs) |
duplication |
Long QT syndrome [RCV002876361] |
Chr11:2588739..2588740 [GRCh38]
Chr11:2609969..2609970 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe) |
single nucleotide variant |
Long QT syndrome [RCV002894309] |
Chr11:2587607 [GRCh38]
Chr11:2608837 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1685+11C>A |
single nucleotide variant |
Long QT syndrome [RCV002914559] |
Chr11:2776065 [GRCh38]
Chr11:2797295 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.186G>C (p.Ala62=) |
single nucleotide variant |
Long QT syndrome [RCV002853401] |
Chr11:2445284 [GRCh38]
Chr11:2466514 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1673A>G (p.Glu558Gly) |
single nucleotide variant |
Long QT syndrome [RCV003091966] |
Chr11:2776042 [GRCh38]
Chr11:2797272 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.68C>T (p.Ala23Val) |
single nucleotide variant |
Long QT syndrome [RCV003029898] |
Chr11:2445166 [GRCh38]
Chr11:2466396 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1032+1G>T |
single nucleotide variant |
Long QT syndrome [RCV003062314] |
Chr11:2583546 [GRCh38]
Chr11:2604776 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.235C>T (p.Leu79Phe) |
single nucleotide variant |
Long QT syndrome [RCV002580358] |
Chr11:2445333 [GRCh38]
Chr11:2466563 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs) |
insertion |
Long QT syndrome [RCV003044271] |
Chr11:2768911..2768912 [GRCh38]
Chr11:2790141..2790142 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1888C>A (p.Pro630Thr) |
single nucleotide variant |
Long QT syndrome [RCV002601570] |
Chr11:2847860 [GRCh38]
Chr11:2869090 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.891C>A (p.Gly297=) |
single nucleotide variant |
Long QT syndrome [RCV003088074] |
Chr11:2572956 [GRCh38]
Chr11:2594186 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1326T>C (p.His442=) |
single nucleotide variant |
Long QT syndrome [RCV003063461] |
Chr11:2588787 [GRCh38]
Chr11:2610017 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.210C>T (p.Pro70=) |
single nucleotide variant |
Long QT syndrome [RCV002629160] |
Chr11:2445308 [GRCh38]
Chr11:2466538 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+8T>G |
single nucleotide variant |
Long QT syndrome [RCV002599893] |
Chr11:2445492 [GRCh38]
Chr11:2466722 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.780+15T>C |
single nucleotide variant |
Long QT syndrome [RCV002599131] |
Chr11:2572124 [GRCh38]
Chr11:2593354 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser) |
single nucleotide variant |
Long QT syndrome [RCV002877295] |
Chr11:2445430 [GRCh38]
Chr11:2466660 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161857]|Long QT syndrome [RCV002598788] |
Chr11:2847829 [GRCh38]
Chr11:2869059 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.573G>A (p.Leu191=) |
single nucleotide variant |
Long QT syndrome [RCV002937486] |
Chr11:2570723 [GRCh38]
Chr11:2591953 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala) |
single nucleotide variant |
Long QT syndrome [RCV003044588] |
Chr11:2583460 [GRCh38]
Chr11:2604690 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1032+1G>C |
single nucleotide variant |
Long QT syndrome [RCV002856814] |
Chr11:2583546 [GRCh38]
Chr11:2604776 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter) |
single nucleotide variant |
Long QT syndrome [RCV002857006] |
Chr11:2587681 [GRCh38]
Chr11:2608911 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1989G>A (p.Glu663=) |
single nucleotide variant |
Long QT syndrome [RCV002833686] |
Chr11:2847961 [GRCh38]
Chr11:2869191 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1599G>A (p.Arg533=) |
single nucleotide variant |
Long QT syndrome [RCV002580091] |
Chr11:2775968 [GRCh38]
Chr11:2797198 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.105C>T (p.Pro35=) |
single nucleotide variant |
Long QT syndrome [RCV003028315] |
Chr11:2445203 [GRCh38]
Chr11:2466433 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.214G>C (p.Ala72Pro) |
single nucleotide variant |
Long QT syndrome [RCV002578451] |
Chr11:2445312 [GRCh38]
Chr11:2466542 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.426G>A (p.Leu142=) |
single nucleotide variant |
Long QT syndrome [RCV003029251] |
Chr11:2527967 [GRCh38]
Chr11:2549197 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1481A>G (p.Glu494Gly) |
single nucleotide variant |
Long QT syndrome [RCV002921933] |
Chr11:2662048 [GRCh38]
Chr11:2683278 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val) |
single nucleotide variant |
Long QT syndrome [RCV002671553] |
Chr11:2572882 [GRCh38]
Chr11:2594112 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.657G>A (p.Gly219=) |
single nucleotide variant |
Long QT syndrome [RCV003010219] |
Chr11:2571377 [GRCh38]
Chr11:2592607 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-11_1252-9del |
deletion |
Long QT syndrome [RCV002770181] |
Chr11:2588700..2588702 [GRCh38]
Chr11:2609930..2609932 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1200C>T (p.Pro400=) |
single nucleotide variant |
Long QT syndrome [RCV002877294] |
Chr11:2587641 [GRCh38]
Chr11:2608871 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.922-20C>T |
single nucleotide variant |
Long QT syndrome [RCV002671127] |
Chr11:2583415 [GRCh38]
Chr11:2604645 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.85G>A (p.Gly29Ser) |
single nucleotide variant |
Long QT syndrome [RCV002988564] |
Chr11:2445183 [GRCh38]
Chr11:2466413 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1817T>A (p.Leu606Gln) |
single nucleotide variant |
Long QT syndrome [RCV003009763] |
Chr11:2847789 [GRCh38]
Chr11:2869019 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1128+20C>T |
single nucleotide variant |
Long QT syndrome [RCV002582543] |
Chr11:2585327 [GRCh38]
Chr11:2606557 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1591-17G>A |
single nucleotide variant |
Long QT syndrome [RCV002583907] |
Chr11:2775943 [GRCh38]
Chr11:2797173 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1158C>A (p.Asn386Lys) |
single nucleotide variant |
Long QT syndrome [RCV002653076] |
Chr11:2587599 [GRCh38]
Chr11:2608829 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.636C>G (p.Val212=) |
single nucleotide variant |
Long QT syndrome [RCV003068367] |
Chr11:2571356 [GRCh38]
Chr11:2592586 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.918G>A (p.Gly306=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003591980]|Long QT syndrome [RCV003066951] |
Chr11:2572983 [GRCh38]
Chr11:2594213 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1331C>T (p.Thr444Met) |
single nucleotide variant |
Long QT syndrome [RCV003068894] |
Chr11:2588792 [GRCh38]
Chr11:2610022 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.787A>G (p.Ile263Val) |
single nucleotide variant |
Long QT syndrome [RCV002603171] |
Chr11:2572852 [GRCh38]
Chr11:2594082 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg) |
single nucleotide variant |
Long QT syndrome [RCV003051741]|not provided [RCV003134591] |
Chr11:2583472 [GRCh38]
Chr11:2604702 [GRCh37]
Chr11:11p15.5 |
likely pathogenic|uncertain significance |
| NM_000218.3(KCNQ1):c.1854C>T (p.Ser618=) |
single nucleotide variant |
Long QT syndrome [RCV002610100] |
Chr11:2847826 [GRCh38]
Chr11:2869056 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1732+7T>C |
single nucleotide variant |
Long QT syndrome [RCV002585522] |
Chr11:2777039 [GRCh38]
Chr11:2798269 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.684-12T>A |
single nucleotide variant |
Long QT syndrome [RCV003071208] |
Chr11:2572001 [GRCh38]
Chr11:2593231 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.21G>C (p.Pro7=) |
single nucleotide variant |
Long QT syndrome [RCV002588508] |
Chr11:2445119 [GRCh38]
Chr11:2466349 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1014C>T (p.Ser338=) |
single nucleotide variant |
Long QT syndrome [RCV002942820] |
Chr11:2583527 [GRCh38]
Chr11:2604757 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1368C>T (p.Phe456=) |
single nucleotide variant |
Long QT syndrome [RCV002603014] |
Chr11:2588829 [GRCh38]
Chr11:2610059 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1849C>T (p.Leu617Phe) |
single nucleotide variant |
Long QT syndrome [RCV003092383] |
Chr11:2847821 [GRCh38]
Chr11:2869051 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.381C>T (p.Phe127=) |
single nucleotide variant |
Long QT syndrome [RCV002606968] |
Chr11:2445479 [GRCh38]
Chr11:2466709 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278562] |
Chr11:2445307 [GRCh38]
Chr11:2466537 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.86G>T (p.Gly29Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278563] |
Chr11:2445184 [GRCh38]
Chr11:2466414 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1962G>A (p.Leu654=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278564] |
Chr11:2847934 [GRCh38]
Chr11:2869164 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV003228631] |
Chr11:2585269 [GRCh38]
Chr11:2606499 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-21797C>T |
single nucleotide variant |
not provided [RCV003222692] |
Chr11:2640164 [GRCh38]
Chr11:2661394 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-11893C>T |
single nucleotide variant |
not provided [RCV003222697] |
Chr11:2650068 [GRCh38]
Chr11:2671298 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+50C>G |
single nucleotide variant |
not provided [RCV003222698] |
Chr11:2662131 [GRCh38]
Chr11:2683361 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+11391A>G |
single nucleotide variant |
not provided [RCV003222701] |
Chr11:2673472 [GRCh38]
Chr11:2694702 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu) |
single nucleotide variant |
not provided [RCV003229375] |
Chr11:2778024 [GRCh38]
Chr11:2799254 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1514+11901G>T |
single nucleotide variant |
not provided [RCV003222702] |
Chr11:2673982 [GRCh38]
Chr11:2695212 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.634G>T (p.Val212Phe) |
single nucleotide variant |
not provided [RCV003159352] |
Chr11:2571354 [GRCh38]
Chr11:2592584 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-19115T>C |
single nucleotide variant |
not provided [RCV003222693] |
Chr11:2642846 [GRCh38]
Chr11:2664076 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-18136T>G |
single nucleotide variant |
not provided [RCV003222694] |
Chr11:2643825 [GRCh38]
Chr11:2665055 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+36900C>T |
single nucleotide variant |
not provided [RCV003222709] |
Chr11:2698981 [GRCh38]
Chr11:2720211 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+22394C>T |
single nucleotide variant |
not provided [RCV003222690] |
Chr11:2611248 [GRCh38]
Chr11:2632478 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+35888C>G |
single nucleotide variant |
not provided [RCV003222691] |
Chr11:2624742 [GRCh38]
Chr11:2645972 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-12095A>G |
single nucleotide variant |
not provided [RCV003222696] |
Chr11:2649866 [GRCh38]
Chr11:2671096 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+23744C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003966294]|not provided [RCV003222704] |
Chr11:2685825 [GRCh38]
Chr11:2707055 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-16931C>A |
single nucleotide variant |
not provided [RCV003222695] |
Chr11:2645030 [GRCh38]
Chr11:2666260 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln) |
single nucleotide variant |
not provided [RCV003222689] |
Chr11:2572862 [GRCh38]
Chr11:2594092 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1514+4184G>A |
single nucleotide variant |
not provided [RCV003222699] |
Chr11:2666265 [GRCh38]
Chr11:2687495 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+29457A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003928967]|not provided [RCV003222708] |
Chr11:2691538 [GRCh38]
Chr11:2712768 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.387-6394G>C |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV003224696] |
Chr11:2521534 [GRCh38]
Chr11:2542764 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+5115_1514+5116insT |
insertion |
not provided [RCV003222700] |
Chr11:2667196..2667197 [GRCh38]
Chr11:2688426..2688427 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+22071C>T |
single nucleotide variant |
not provided [RCV003222703] |
Chr11:2684152 [GRCh38]
Chr11:2705382 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+23745G>A |
single nucleotide variant |
not provided [RCV003222705] |
Chr11:2685826 [GRCh38]
Chr11:2707056 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.597C>G (p.Ser199=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003182733] |
Chr11:2570747 [GRCh38]
Chr11:2591977 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter) |
single nucleotide variant |
not provided [RCV003146788] |
Chr11:2572980 [GRCh38]
Chr11:2594210 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter) |
single nucleotide variant |
not provided [RCV003146792] |
Chr11:2445417 [GRCh38]
Chr11:2466647 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg) |
single nucleotide variant |
Long QT syndrome 1 [RCV003159082] |
Chr11:2570685 [GRCh38]
Chr11:2591915 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.248del (p.Pro83fs) |
deletion |
Long QT syndrome 1 [RCV003228734] |
Chr11:2445345 [GRCh38]
Chr11:2466575 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1514+28055G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003928966]|not provided [RCV003222706] |
Chr11:2690136 [GRCh38]
Chr11:2711366 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+28271C>T |
single nucleotide variant |
not provided [RCV003222707] |
Chr11:2690352 [GRCh38]
Chr11:2711582 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+37562_1514+37587del |
deletion |
not provided [RCV003222710] |
Chr11:2699618..2699643 [GRCh38]
Chr11:2720848..2720873 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+37637G>C |
single nucleotide variant |
not provided [RCV003222711] |
Chr11:2699718 [GRCh38]
Chr11:2720948 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.931del (p.Thr311fs) |
deletion |
Cardiovascular phenotype [RCV003182734] |
Chr11:2583444 [GRCh38]
Chr11:2604674 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.828C>T (p.Ser276=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003182735] |
Chr11:2572893 [GRCh38]
Chr11:2594123 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1035G>T (p.Gly345=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003182736] |
Chr11:2585214 [GRCh38]
Chr11:2606444 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.567G>C (p.Gly189=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003182737] |
Chr11:2570717 [GRCh38]
Chr11:2591947 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1021G>A (p.Ala341Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003182738] |
Chr11:2583534 [GRCh38]
Chr11:2604764 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly) |
single nucleotide variant |
Long QT syndrome 1 [RCV003319960] |
Chr11:2572975 [GRCh38]
Chr11:2594205 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu) |
single nucleotide variant |
Long QT syndrome 1 [RCV003319961] |
Chr11:2583533 [GRCh38]
Chr11:2604763 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln) |
single nucleotide variant |
Long QT syndrome 1 [RCV003319962] |
Chr11:2572850 [GRCh38]
Chr11:2594080 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NC_000011.9:g.(?_2683186)_(2683314_?)del |
deletion |
Long QT syndrome 1 [RCV003319966] |
Chr11:2683186..2683314 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.387-1G>C |
single nucleotide variant |
Long QT syndrome 1 [RCV003319967] |
Chr11:2527927 [GRCh38]
Chr11:2549157 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.584_604+46del |
deletion |
Long QT syndrome 1 [RCV003319970] |
Chr11:2570732..2570798 [GRCh38]
Chr11:2591962..2592028 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs) |
insertion |
Long QT syndrome 1 [RCV003324633] |
Chr11:2445453..2445454 [GRCh38]
Chr11:2466683..2466684 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1794+1G>A |
single nucleotide variant |
Long QT syndrome 1 [RCV003319963] |
Chr11:2778038 [GRCh38]
Chr11:2799268 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.398del (p.Val133fs) |
deletion |
Long QT syndrome 1 [RCV003319964] |
Chr11:2527939 [GRCh38]
Chr11:2549169 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1487del (p.Leu496fs) |
deletion |
Long QT syndrome 1 [RCV003319965] |
Chr11:2662054 [GRCh38]
Chr11:2683284 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1128+4dup |
duplication |
Long QT syndrome 1 [RCV003319969] |
Chr11:2585310..2585311 [GRCh38]
Chr11:2606540..2606541 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs) |
insertion |
Long QT syndrome 1 [RCV003319971] |
Chr11:2587660..2587661 [GRCh38]
Chr11:2608890..2608891 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del) |
deletion |
Long QT syndrome 1 [RCV003319968] |
Chr11:2585247..2585258 [GRCh38]
Chr11:2606477..2606488 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1394-36112G>A |
single nucleotide variant |
not provided [RCV003326806] |
Chr11:2625849 [GRCh38]
Chr11:2647079 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21161T>C |
single nucleotide variant |
not provided [RCV003326808] |
Chr11:2640800 [GRCh38]
Chr11:2662030 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-16103del |
deletion |
not provided [RCV003326809] |
Chr11:2645857 [GRCh38]
Chr11:2667087 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-15516dup |
duplication |
not provided [RCV003326810] |
Chr11:2646437..2646438 [GRCh38]
Chr11:2667667..2667668 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-4506A>G |
single nucleotide variant |
not provided [RCV003326813] |
Chr11:2657455 [GRCh38]
Chr11:2678685 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-3979C>T |
single nucleotide variant |
not provided [RCV003326814] |
Chr11:2657982 [GRCh38]
Chr11:2679212 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-3158C>T |
single nucleotide variant |
not provided [RCV003326816] |
Chr11:2658803 [GRCh38]
Chr11:2680033 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+1505C>T |
single nucleotide variant |
not provided [RCV003326819] |
Chr11:2663586 [GRCh38]
Chr11:2684816 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+11010C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003928986]|not provided [RCV003326820] |
Chr11:2673091 [GRCh38]
Chr11:2694321 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+29959C>G |
single nucleotide variant |
not provided [RCV003326825] |
Chr11:2692040 [GRCh38]
Chr11:2713270 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+34898dup |
duplication |
not provided [RCV003326826] |
Chr11:2696969..2696970 [GRCh38]
Chr11:2718199..2718200 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+37588G>C |
single nucleotide variant |
not provided [RCV003326827] |
Chr11:2699669 [GRCh38]
Chr11:2720899 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+12752A>T |
single nucleotide variant |
not provided [RCV003326821] |
Chr11:2674833 [GRCh38]
Chr11:2696063 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+13415T>C |
single nucleotide variant |
not provided [RCV003326822] |
Chr11:2675496 [GRCh38]
Chr11:2696726 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+26176G>A |
single nucleotide variant |
not provided [RCV003326824] |
Chr11:2688257 [GRCh38]
Chr11:2709487 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+695T>C |
single nucleotide variant |
not provided [RCV003326818] |
Chr11:2662776 [GRCh38]
Chr11:2684006 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-30776T>A |
single nucleotide variant |
not provided [RCV003326807] |
Chr11:2631185 [GRCh38]
Chr11:2652415 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+18144_1514+18146del |
deletion |
not provided [RCV003326823] |
Chr11:2680207..2680209 [GRCh38]
Chr11:2701437..2701439 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+25307G>A |
single nucleotide variant |
not provided [RCV003326804] |
Chr11:2614161 [GRCh38]
Chr11:2635391 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+21480C>T |
single nucleotide variant |
not provided [RCV003424775] |
Chr11:2610334 [GRCh38]
Chr11:2631564 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+23747A>G |
single nucleotide variant |
not provided [RCV003424780] |
Chr11:2612601 [GRCh38]
Chr11:2633831 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+31362T>A |
single nucleotide variant |
not provided [RCV003424794] |
Chr11:2620216 [GRCh38]
Chr11:2641446 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31365T>A |
single nucleotide variant |
not provided [RCV003424796] |
Chr11:2620219 [GRCh38]
Chr11:2641449 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.195G>C (p.Ala65=) |
single nucleotide variant |
not provided [RCV003326803] |
Chr11:2445293 [GRCh38]
Chr11:2466523 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+25398C>T |
single nucleotide variant |
not provided [RCV003326805] |
Chr11:2614252 [GRCh38]
Chr11:2635482 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-4519A>C |
single nucleotide variant |
not provided [RCV003326812] |
Chr11:2657442 [GRCh38]
Chr11:2678672 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+549T>G |
single nucleotide variant |
KCNQ1-related condition [RCV003936743]|not provided [RCV003326817] |
Chr11:2662630 [GRCh38]
Chr11:2683860 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-3258T>C |
single nucleotide variant |
not provided [RCV003326815] |
Chr11:2658703 [GRCh38]
Chr11:2679933 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-21756C>T |
single nucleotide variant |
not provided [RCV003334129] |
Chr11:2640205 [GRCh38]
Chr11:2661435 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+21881_1393+21891del |
deletion |
not provided [RCV003334126] |
Chr11:2610717..2610727 [GRCh38]
Chr11:2631947..2631957 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+28521A>T |
single nucleotide variant |
not provided [RCV003334127] |
Chr11:2617375 [GRCh38]
Chr11:2638605 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-14063T>A |
single nucleotide variant |
not provided [RCV003334131] |
Chr11:2647898 [GRCh38]
Chr11:2669128 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-7866C>T |
single nucleotide variant |
not provided [RCV003334132] |
Chr11:2654095 [GRCh38]
Chr11:2675325 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+1994C>T |
single nucleotide variant |
not provided [RCV003334133] |
Chr11:2664075 [GRCh38]
Chr11:2685305 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.542G>A (p.Arg181His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360855] |
Chr11:2570692 [GRCh38]
Chr11:2591922 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1670A>G (p.Lys557Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360856] |
Chr11:2776039 [GRCh38]
Chr11:2797269 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-16604C>T |
single nucleotide variant |
not provided [RCV003394698] |
Chr11:2645357 [GRCh38]
Chr11:2666587 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-14441G>A |
single nucleotide variant |
not provided [RCV003394701] |
Chr11:2647520 [GRCh38]
Chr11:2668750 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13692A>T |
single nucleotide variant |
not provided [RCV003394704] |
Chr11:2648269 [GRCh38]
Chr11:2669499 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13142A>G |
single nucleotide variant |
not provided [RCV003394706] |
Chr11:2648819 [GRCh38]
Chr11:2670049 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9949T>C |
single nucleotide variant |
not provided [RCV003394709] |
Chr11:2652012 [GRCh38]
Chr11:2673242 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-8581T>C |
single nucleotide variant |
not provided [RCV003394713] |
Chr11:2653380 [GRCh38]
Chr11:2674610 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-5831T>C |
single nucleotide variant |
not provided [RCV003394714] |
Chr11:2656130 [GRCh38]
Chr11:2677360 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1865C>T |
single nucleotide variant |
not provided [RCV003394720] |
Chr11:2660096 [GRCh38]
Chr11:2681326 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4399C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003954121]|not provided [RCV003394728] |
Chr11:2666480 [GRCh38]
Chr11:2687710 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+4986C>T |
single nucleotide variant |
not provided [RCV003394731] |
Chr11:2667067 [GRCh38]
Chr11:2688297 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+12703G>A |
single nucleotide variant |
not provided [RCV003394737] |
Chr11:2674784 [GRCh38]
Chr11:2696014 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+14332A>G |
single nucleotide variant |
not provided [RCV003394739] |
Chr11:2676413 [GRCh38]
Chr11:2697643 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+21500G>A |
single nucleotide variant |
not provided [RCV003394745] |
Chr11:2683581 [GRCh38]
Chr11:2704811 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+23432G>A |
single nucleotide variant |
not provided [RCV003394746] |
Chr11:2685513 [GRCh38]
Chr11:2706743 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+29267C>A |
single nucleotide variant |
not provided [RCV003394749] |
Chr11:2691348 [GRCh38]
Chr11:2712578 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+31280C>T |
single nucleotide variant |
not provided [RCV003394752] |
Chr11:2693361 [GRCh38]
Chr11:2714591 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+33613G>A |
single nucleotide variant |
not provided [RCV003394755] |
Chr11:2695694 [GRCh38]
Chr11:2716924 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-16988A>G |
single nucleotide variant |
not provided [RCV003394695] |
Chr11:2644973 [GRCh38]
Chr11:2666203 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+863G>C |
single nucleotide variant |
not provided [RCV003394723] |
Chr11:2662944 [GRCh38]
Chr11:2684174 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003350693] |
Chr11:2572976 [GRCh38]
Chr11:2594206 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.465T>G (p.Thr155=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003350694] |
Chr11:2528006 [GRCh38]
Chr11:2549236 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+33133dup |
duplication |
KCNQ1OT1-related condition [RCV003419049] |
Chr11:2621981..2621982 [GRCh38]
Chr11:2643211..2643212 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+25830A>G |
single nucleotide variant |
not provided [RCV003456747] |
Chr11:2614684 [GRCh38]
Chr11:2635914 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13971G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003954219]|not provided [RCV003456752] |
Chr11:2647990 [GRCh38]
Chr11:2669220 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-6914G>A |
single nucleotide variant |
not provided [RCV003456754] |
Chr11:2655047 [GRCh38]
Chr11:2676277 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+8513C>A |
single nucleotide variant |
not provided [RCV003456756] |
Chr11:2670594 [GRCh38]
Chr11:2691824 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+22361G>A |
single nucleotide variant |
not provided [RCV003456757] |
Chr11:2684442 [GRCh38]
Chr11:2705672 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-28351G>A |
single nucleotide variant |
not provided [RCV003456750] |
Chr11:2633610 [GRCh38]
Chr11:2654840 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1252-9T>G |
single nucleotide variant |
not provided [RCV003482750] |
Chr11:2588704 [GRCh38]
Chr11:2609934 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.987C>T (p.Ala329=) |
single nucleotide variant |
Long QT syndrome [RCV003872785] |
Chr11:2583500 [GRCh38]
Chr11:2604730 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-33297G>A |
single nucleotide variant |
not provided [RCV003394682] |
Chr11:2628664 [GRCh38]
Chr11:2649894 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-19958A>G |
single nucleotide variant |
not provided [RCV003394689] |
Chr11:2642003 [GRCh38]
Chr11:2663233 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-14331G>A |
single nucleotide variant |
not provided [RCV003394702] |
Chr11:2647630 [GRCh38]
Chr11:2668860 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-5270T>G |
single nucleotide variant |
not provided [RCV003394716] |
Chr11:2656691 [GRCh38]
Chr11:2677921 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+669_1514+675del |
deletion |
not provided [RCV003394722] |
Chr11:2662748..2662754 [GRCh38]
Chr11:2683978..2683984 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+10930_1514+10933dup |
duplication |
not provided [RCV003394734] |
Chr11:2673010..2673011 [GRCh38]
Chr11:2694240..2694241 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+12602del |
deletion |
not provided [RCV003394736] |
Chr11:2674682 [GRCh38]
Chr11:2695912 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+24815T>C |
single nucleotide variant |
not provided [RCV003394747] |
Chr11:2686896 [GRCh38]
Chr11:2708126 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-21448T>A |
single nucleotide variant |
not provided [RCV003394687] |
Chr11:2640513 [GRCh38]
Chr11:2661743 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+37402C>G |
single nucleotide variant |
not provided [RCV003394757] |
Chr11:2699483 [GRCh38]
Chr11:2720713 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37403C>G |
single nucleotide variant |
not provided [RCV003394758] |
Chr11:2699484 [GRCh38]
Chr11:2720714 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21617T>G |
single nucleotide variant |
not provided [RCV003456751] |
Chr11:2640344 [GRCh38]
Chr11:2661574 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-13764C>T |
single nucleotide variant |
not provided [RCV003456753] |
Chr11:2648197 [GRCh38]
Chr11:2669427 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+26185T>A |
single nucleotide variant |
not provided [RCV003424782] |
Chr11:2615039 [GRCh38]
Chr11:2636269 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+27282A>C |
single nucleotide variant |
not provided [RCV003424784] |
Chr11:2616136 [GRCh38]
Chr11:2637366 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+33589C>A |
single nucleotide variant |
not provided [RCV003424799] |
Chr11:2622443 [GRCh38]
Chr11:2643673 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-34554C>T |
single nucleotide variant |
not provided [RCV003424807] |
Chr11:2627407 [GRCh38]
Chr11:2648637 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-32263T>C |
single nucleotide variant |
not provided [RCV003405220] |
Chr11:2629698 [GRCh38]
Chr11:2650928 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 |
copy number gain |
not provided [RCV003484828] |
Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1514+5462T>C |
single nucleotide variant |
not provided [RCV003390008] |
Chr11:2667543 [GRCh38]
Chr11:2688773 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+15329T>C |
single nucleotide variant |
not provided [RCV003390012] |
Chr11:2677410 [GRCh38]
Chr11:2698640 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+25975C>A |
single nucleotide variant |
not provided [RCV003390014] |
Chr11:2688056 [GRCh38]
Chr11:2709286 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+30194A>G |
single nucleotide variant |
not provided [RCV003390015] |
Chr11:2692275 [GRCh38]
Chr11:2713505 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+33991G>A |
single nucleotide variant |
not provided [RCV003390016] |
Chr11:2696072 [GRCh38]
Chr11:2717302 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-10914C>G |
single nucleotide variant |
not provided [RCV003390001] |
Chr11:2651047 [GRCh38]
Chr11:2672277 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-15976G>A |
single nucleotide variant |
not provided [RCV003390000] |
Chr11:2645985 [GRCh38]
Chr11:2667215 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-16824C>T |
single nucleotide variant |
not provided [RCV003389999] |
Chr11:2645137 [GRCh38]
Chr11:2666367 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-27670G>A |
single nucleotide variant |
not provided [RCV003389998] |
Chr11:2634291 [GRCh38]
Chr11:2655521 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-28905T>A |
single nucleotide variant |
not provided [RCV003389997] |
Chr11:2633056 [GRCh38]
Chr11:2654286 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-35987T>C |
single nucleotide variant |
not provided [RCV003456748] |
Chr11:2625974 [GRCh38]
Chr11:2647204 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-30535dup |
duplication |
not provided [RCV003456749] |
Chr11:2631425..2631426 [GRCh38]
Chr11:2652655..2652656 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+20618A>C |
single nucleotide variant |
KCNQ1-related condition [RCV003938905]|not provided [RCV003424774] |
Chr11:2609472 [GRCh38]
Chr11:2630702 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+31020A>T |
single nucleotide variant |
not provided [RCV003424791] |
Chr11:2619874 [GRCh38]
Chr11:2641104 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+31363T>A |
single nucleotide variant |
not provided [RCV003424795] |
Chr11:2620217 [GRCh38]
Chr11:2641447 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+34768A>G |
single nucleotide variant |
not provided [RCV003424801] |
Chr11:2623622 [GRCh38]
Chr11:2644852 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+35431T>C |
single nucleotide variant |
not provided [RCV003424802] |
Chr11:2624285 [GRCh38]
Chr11:2645515 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-11748C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003901037]|not provided [RCV003394708] |
Chr11:2650213 [GRCh38]
Chr11:2671443 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-3571A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003980871]|not provided [RCV003394719] |
Chr11:2658390 [GRCh38]
Chr11:2679620 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+3779C>T |
single nucleotide variant |
not provided [RCV003394727] |
Chr11:2665860 [GRCh38]
Chr11:2687090 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4764G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003929028]|not provided [RCV003394729] |
Chr11:2666845 [GRCh38]
Chr11:2688075 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+13229T>C |
single nucleotide variant |
not provided [RCV003394738] |
Chr11:2675310 [GRCh38]
Chr11:2696540 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+30767T>C |
single nucleotide variant |
not provided [RCV003394750] |
Chr11:2692848 [GRCh38]
Chr11:2714078 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37575_1514+37600dup |
duplication |
not provided [RCV003394759] |
Chr11:2699643..2699644 [GRCh38]
Chr11:2720873..2720874 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+36728_1514+36729del |
microsatellite |
not provided [RCV003390018] |
Chr11:2698807..2698808 [GRCh38]
Chr11:2720037..2720038 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+2739T>C |
single nucleotide variant |
not provided [RCV003390005] |
Chr11:2664820 [GRCh38]
Chr11:2686050 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-33375T>C |
single nucleotide variant |
not provided [RCV003389996] |
Chr11:2628586 [GRCh38]
Chr11:2649816 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg) |
single nucleotide variant |
Atrial fibrillation, familial, 3 [RCV003448595] |
Chr11:2445383 [GRCh38]
Chr11:2466613 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+27038_1393+27039del |
deletion |
not provided [RCV003424783] |
Chr11:2615891..2615892 [GRCh38]
Chr11:2637121..2637122 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+28822C>G |
single nucleotide variant |
not provided [RCV003424786] |
Chr11:2617676 [GRCh38]
Chr11:2638906 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+29634T>C |
single nucleotide variant |
not provided [RCV003424788] |
Chr11:2618488 [GRCh38]
Chr11:2639718 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+34464G>A |
single nucleotide variant |
not provided [RCV003424800] |
Chr11:2623318 [GRCh38]
Chr11:2644548 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+18086C>T |
single nucleotide variant |
not provided [RCV003390013] |
Chr11:2680167 [GRCh38]
Chr11:2701397 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+4162A>G |
single nucleotide variant |
not provided [RCV003390007] |
Chr11:2666243 [GRCh38]
Chr11:2687473 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-30966C>A |
single nucleotide variant |
not provided [RCV003394684] |
Chr11:2630995 [GRCh38]
Chr11:2652225 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-30041C>T |
single nucleotide variant |
not provided [RCV003394685] |
Chr11:2631920 [GRCh38]
Chr11:2653150 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-18020C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003938906]|not provided [RCV003394692] |
Chr11:2643941 [GRCh38]
Chr11:2665171 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-16873C>T |
single nucleotide variant |
not provided [RCV003394697] |
Chr11:2645088 [GRCh38]
Chr11:2666318 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-13970A>C |
single nucleotide variant |
not provided [RCV003394703] |
Chr11:2647991 [GRCh38]
Chr11:2669221 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-13179A>G |
single nucleotide variant |
not provided [RCV003394705] |
Chr11:2648782 [GRCh38]
Chr11:2670012 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-12553A>G |
single nucleotide variant |
not provided [RCV003394707] |
Chr11:2649408 [GRCh38]
Chr11:2670638 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9811C>T |
single nucleotide variant |
not provided [RCV003394710] |
Chr11:2652150 [GRCh38]
Chr11:2673380 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+973G>C |
single nucleotide variant |
KCNQ1-related condition [RCV003919096]|not provided [RCV003394724] |
Chr11:2663054 [GRCh38]
Chr11:2684284 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+11730T>C |
single nucleotide variant |
not provided [RCV003394735] |
Chr11:2673811 [GRCh38]
Chr11:2695041 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-32417C>T |
single nucleotide variant |
not provided [RCV003394683] |
Chr11:2629544 [GRCh38]
Chr11:2650774 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-21154del |
deletion |
not provided [RCV003394688] |
Chr11:2640807 [GRCh38]
Chr11:2662037 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-18070G>C |
single nucleotide variant |
not provided [RCV003394690] |
Chr11:2643891 [GRCh38]
Chr11:2665121 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-5366C>T |
single nucleotide variant |
not provided [RCV003394715] |
Chr11:2656595 [GRCh38]
Chr11:2677825 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-4746C>G |
single nucleotide variant |
not provided [RCV003394717] |
Chr11:2657215 [GRCh38]
Chr11:2678445 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-3815C>G |
single nucleotide variant |
not provided [RCV003394718] |
Chr11:2658146 [GRCh38]
Chr11:2679376 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+518G>A |
single nucleotide variant |
not provided [RCV003394721] |
Chr11:2662599 [GRCh38]
Chr11:2683829 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+6865_1514+6866del |
deletion |
not provided [RCV003394732] |
Chr11:2668945..2668946 [GRCh38]
Chr11:2690175..2690176 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+19125G>A |
single nucleotide variant |
not provided [RCV003394744] |
Chr11:2681206 [GRCh38]
Chr11:2702436 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-27846C>T |
single nucleotide variant |
not provided [RCV003394686] |
Chr11:2634115 [GRCh38]
Chr11:2655345 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-17468C>T |
single nucleotide variant |
not provided [RCV003394694] |
Chr11:2644493 [GRCh38]
Chr11:2665723 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+1469T>C |
single nucleotide variant |
not provided [RCV003394725] |
Chr11:2663550 [GRCh38]
Chr11:2684780 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+2528C>T |
single nucleotide variant |
not provided [RCV003394726] |
Chr11:2664609 [GRCh38]
Chr11:2685839 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4889G>C |
single nucleotide variant |
not provided [RCV003394730] |
Chr11:2666970 [GRCh38]
Chr11:2688200 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+9244C>T |
single nucleotide variant |
not provided [RCV003394733] |
Chr11:2671325 [GRCh38]
Chr11:2692555 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+17274C>T |
single nucleotide variant |
not provided [RCV003394740] |
Chr11:2679355 [GRCh38]
Chr11:2700585 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+17815T>C |
single nucleotide variant |
not provided [RCV003394741] |
Chr11:2679896 [GRCh38]
Chr11:2701126 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+17876A>C |
single nucleotide variant |
not provided [RCV003394743] |
Chr11:2679957 [GRCh38]
Chr11:2701187 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+28024G>A |
single nucleotide variant |
not provided [RCV003394748] |
Chr11:2690105 [GRCh38]
Chr11:2711335 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+35672_1514+35674del |
microsatellite |
KCNQ1-related condition [RCV003938908]|not provided [RCV003394756] |
Chr11:2697749..2697751 [GRCh38]
Chr11:2718979..2718981 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+31697G>A |
single nucleotide variant |
not provided [RCV003394753] |
Chr11:2693778 [GRCh38]
Chr11:2715008 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+33248TG[12] |
microsatellite |
not provided [RCV003394754] |
Chr11:2695328..2695329 [GRCh38]
Chr11:2716558..2716559 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+23352T>C |
single nucleotide variant |
not provided [RCV003424778] |
Chr11:2612206 [GRCh38]
Chr11:2633436 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+30175C>A |
single nucleotide variant |
not provided [RCV003424789] |
Chr11:2619029 [GRCh38]
Chr11:2640259 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31369del |
deletion |
not provided [RCV003424793] |
Chr11:2620212 [GRCh38]
Chr11:2641442 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32098_1393+32099insGTT |
insertion |
not provided [RCV003424797] |
Chr11:2620950..2620951 [GRCh38]
Chr11:2642180..2642181 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+36170A>G |
single nucleotide variant |
not provided [RCV003424804] |
Chr11:2625024 [GRCh38]
Chr11:2646254 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+36529G>A |
single nucleotide variant |
not provided [RCV003424805] |
Chr11:2625383 [GRCh38]
Chr11:2646613 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-534dup |
duplication |
not provided [RCV003456755] |
Chr11:2661426..2661427 [GRCh38]
Chr11:2682656..2682657 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+31662C>G |
single nucleotide variant |
not provided [RCV003456758] |
Chr11:2693743 [GRCh38]
Chr11:2714973 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+37643_1514+37668del |
deletion |
not provided [RCV003456759] |
Chr11:2699720..2699745 [GRCh38]
Chr11:2720950..2720975 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-15920G>A |
single nucleotide variant |
not provided [RCV003405222] |
Chr11:2646041 [GRCh38]
Chr11:2667271 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+10345C>T |
single nucleotide variant |
not provided [RCV003397868] |
Chr11:2672426 [GRCh38]
Chr11:2693656 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-29092G>T |
single nucleotide variant |
not provided [RCV003405221] |
Chr11:2632869 [GRCh38]
Chr11:2654099 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+27732C>T |
single nucleotide variant |
not provided [RCV003424785] |
Chr11:2616586 [GRCh38]
Chr11:2637816 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31346TA[7] |
microsatellite |
not provided [RCV003424792] |
Chr11:2620199..2620200 [GRCh38]
Chr11:2641429..2641430 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.9G>A (p.Ala3=) |
single nucleotide variant |
not provided [RCV003424773] |
Chr11:2445107 [GRCh38]
Chr11:2466337 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+21883_1393+21891del |
deletion |
not provided [RCV003424776] |
Chr11:2610717..2610725 [GRCh38]
Chr11:2631947..2631955 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+24102T>A |
single nucleotide variant |
not provided [RCV003424781] |
Chr11:2612956 [GRCh38]
Chr11:2634186 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-36384C>T |
single nucleotide variant |
not provided [RCV003424806] |
Chr11:2625577 [GRCh38]
Chr11:2646807 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+22468C>A |
single nucleotide variant |
not provided [RCV003424777] |
Chr11:2611322 [GRCh38]
Chr11:2632552 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+23648_1393+23651del |
microsatellite |
not provided [RCV003424779] |
Chr11:2612497..2612500 [GRCh38]
Chr11:2633727..2633730 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+29271C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003901036]|not provided [RCV003424787] |
Chr11:2618125 [GRCh38]
Chr11:2639355 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+30303T>A |
single nucleotide variant |
not provided [RCV003424790] |
Chr11:2619157 [GRCh38]
Chr11:2640387 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+33491_1393+33494del |
deletion |
not provided [RCV003424798] |
Chr11:2622342..2622345 [GRCh38]
Chr11:2643572..2643575 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+35891C>T |
single nucleotide variant |
not provided [RCV003424803] |
Chr11:2624745 [GRCh38]
Chr11:2645975 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+35889C>T |
single nucleotide variant |
not provided [RCV003390017] |
Chr11:2697970 [GRCh38]
Chr11:2719200 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+2895G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003946517]|not provided [RCV003390006] |
Chr11:2664976 [GRCh38]
Chr11:2686206 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+988_1514+989insTTCTCTGG |
insertion |
not provided [RCV003390004] |
Chr11:2663066..2663067 [GRCh38]
Chr11:2684296..2684297 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+553C>T |
single nucleotide variant |
not provided [RCV003390003] |
Chr11:2662634 [GRCh38]
Chr11:2683864 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-1021C>T |
single nucleotide variant |
not provided [RCV003390002] |
Chr11:2660940 [GRCh38]
Chr11:2682170 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-34090C>T |
single nucleotide variant |
not provided [RCV003394681] |
Chr11:2627871 [GRCh38]
Chr11:2649101 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-18042G>A |
single nucleotide variant |
not provided [RCV003394691] |
Chr11:2643919 [GRCh38]
Chr11:2665149 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-17731_1394-17727dup |
duplication |
not provided [RCV003394693] |
Chr11:2644228..2644229 [GRCh38]
Chr11:2665458..2665459 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-16941T>C |
single nucleotide variant |
not provided [RCV003394696] |
Chr11:2645020 [GRCh38]
Chr11:2666250 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-16460A>G |
single nucleotide variant |
not provided [RCV003394699] |
Chr11:2645501 [GRCh38]
Chr11:2666731 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-15619G>A |
single nucleotide variant |
not provided [RCV003394700] |
Chr11:2646342 [GRCh38]
Chr11:2667572 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9784dup |
duplication |
KCNQ1-related condition [RCV003938907]|not provided [RCV003394711] |
Chr11:2652173..2652174 [GRCh38]
Chr11:2673403..2673404 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9293C>T |
single nucleotide variant |
not provided [RCV003394712] |
Chr11:2652668 [GRCh38]
Chr11:2673898 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+17830dup |
duplication |
not provided [RCV003394742] |
Chr11:2679903..2679904 [GRCh38]
Chr11:2701133..2701134 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+30926C>T |
single nucleotide variant |
not provided [RCV003394751] |
Chr11:2693007 [GRCh38]
Chr11:2714237 [GRCh37]
Chr11:11p15.5 |
benign |
| GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 |
copy number gain |
Russell-Silver syndrome [RCV003444025] |
Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4 |
pathogenic |
| NM_000218.3(KCNQ1):c.1514+5678G>A |
single nucleotide variant |
not provided [RCV003390009] |
Chr11:2667759 [GRCh38]
Chr11:2688989 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+9231G>A |
single nucleotide variant |
not provided [RCV003390010] |
Chr11:2671312 [GRCh38]
Chr11:2692542 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+12311C>T |
single nucleotide variant |
not provided [RCV003390011] |
Chr11:2674392 [GRCh38]
Chr11:2695622 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.387-4G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV003592286] |
Chr11:2527924 [GRCh38]
Chr11:2549154 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.410T>C (p.Leu137Pro) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592287] |
Chr11:2527951 [GRCh38]
Chr11:2549181 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.426G>C (p.Leu142=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592288] |
Chr11:2527967 [GRCh38]
Chr11:2549197 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.601A>G (p.Ile201Val) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592289] |
Chr11:2570751 [GRCh38]
Chr11:2591981 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.682A>C (p.Arg228=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592290] |
Chr11:2571402 [GRCh38]
Chr11:2592632 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.685G>A (p.Gly229Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592291] |
Chr11:2572014 [GRCh38]
Chr11:2593244 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.741C>T (p.Thr247=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592292] |
Chr11:2572070 [GRCh38]
Chr11:2593300 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.754G>A (p.Gly252Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592293] |
Chr11:2572083 [GRCh38]
Chr11:2593313 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.780+7_780+15del |
deletion |
Cardiac arrhythmia [RCV003592294] |
Chr11:2572112..2572120 [GRCh38]
Chr11:2593342..2593350 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.825C>G (p.Phe275Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592295] |
Chr11:2572890 [GRCh38]
Chr11:2594120 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1026C>G (p.Leu342=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592296] |
Chr11:2583539 [GRCh38]
Chr11:2604769 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1134A>G (p.Ala378=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592297] |
Chr11:2587575 [GRCh38]
Chr11:2608805 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1220C>T (p.Ser407Leu) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592298] |
Chr11:2587661 [GRCh38]
Chr11:2608891 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1252-1G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV003592299] |
Chr11:2588712 [GRCh38]
Chr11:2609942 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1301G>C (p.Gly434Ala) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592300] |
Chr11:2588762 [GRCh38]
Chr11:2609992 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1331C>A (p.Thr444Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592301] |
Chr11:2588792 [GRCh38]
Chr11:2610022 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.354C>A (p.Thr118=) |
single nucleotide variant |
Long QT syndrome [RCV003648057] |
Chr11:2445452 [GRCh38]
Chr11:2466682 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.312C>T (p.Thr104=) |
single nucleotide variant |
Long QT syndrome [RCV003648316] |
Chr11:2445410 [GRCh38]
Chr11:2466640 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+1G>A |
single nucleotide variant |
Cardiac arrhythmia [RCV003592303] |
Chr11:2588855 [GRCh38]
Chr11:2610085 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1478G>A (p.Gly493Glu) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592304] |
Chr11:2662045 [GRCh38]
Chr11:2683275 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592305] |
Chr11:2662047 [GRCh38]
Chr11:2683277 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1632G>C (p.Gln544His) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592307] |
Chr11:2776001 [GRCh38]
Chr11:2797231 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.788del (p.Ile263fs) |
deletion |
Long QT syndrome 1 [RCV003485923] |
Chr11:2572853 [GRCh38]
Chr11:2594083 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.135G>C (p.Pro45=) |
single nucleotide variant |
Long QT syndrome [RCV003648358] |
Chr11:2445233 [GRCh38]
Chr11:2466463 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.181C>T (p.Pro61Ser) |
single nucleotide variant |
Long QT syndrome [RCV003648370] |
Chr11:2445279 [GRCh38]
Chr11:2466509 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1432C>A (p.His478Asn) |
single nucleotide variant |
Long QT syndrome [RCV003648434] |
Chr11:2661999 [GRCh38]
Chr11:2683229 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1272G>A (p.Lys424=) |
single nucleotide variant |
Long QT syndrome [RCV003648355] |
Chr11:2588733 [GRCh38]
Chr11:2609963 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1348G>C (p.Glu450Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592302] |
Chr11:2588809 [GRCh38]
Chr11:2610039 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1523A>G (p.Glu508Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592306] |
Chr11:2768852 [GRCh38]
Chr11:2790082 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1721del (p.Ile574fs) |
deletion |
Cardiac arrhythmia [RCV003592309] |
Chr11:2777021 [GRCh38]
Chr11:2798251 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1916C>T (p.Thr639Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592311] |
Chr11:2847888 [GRCh38]
Chr11:2869118 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.130G>C (p.Gly44Arg) |
single nucleotide variant |
not specified [RCV003490836] |
Chr11:2445228 [GRCh38]
Chr11:2466458 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.104C>G (p.Pro35Arg) |
single nucleotide variant |
Long QT syndrome [RCV003648729] |
Chr11:2445202 [GRCh38]
Chr11:2466432 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1546G>A (p.Val516Ile) |
single nucleotide variant |
Long QT syndrome [RCV003648767] |
Chr11:2768875 [GRCh38]
Chr11:2790105 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.972C>G (p.Val324=) |
single nucleotide variant |
Long QT syndrome [RCV003648602] |
Chr11:2583485 [GRCh38]
Chr11:2604715 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.666T>C (p.Phe222=) |
single nucleotide variant |
Long QT syndrome [RCV003648721] |
Chr11:2571386 [GRCh38]
Chr11:2592616 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.135G>A (p.Pro45=) |
single nucleotide variant |
Long QT syndrome [RCV003648735] |
Chr11:2445233 [GRCh38]
Chr11:2466463 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1251+13C>G |
single nucleotide variant |
Long QT syndrome [RCV003824910] |
Chr11:2587705 [GRCh38]
Chr11:2608935 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.562T>C (p.Trp188Arg) |
single nucleotide variant |
Long QT syndrome [RCV003647395] |
Chr11:2570712 [GRCh38]
Chr11:2591942 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser) |
single nucleotide variant |
Long QT syndrome [RCV003647508] |
Chr11:2445453 [GRCh38]
Chr11:2466683 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1038del (p.Gly348fs) |
deletion |
Long QT syndrome [RCV003647625] |
Chr11:2585216 [GRCh38]
Chr11:2606446 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1287T>C (p.Asn429=) |
single nucleotide variant |
Long QT syndrome [RCV003649125] |
Chr11:2588748 [GRCh38]
Chr11:2609978 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.567G>A (p.Gly189=) |
single nucleotide variant |
Long QT syndrome [RCV003648961] |
Chr11:2570717 [GRCh38]
Chr11:2591947 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1431C>G (p.Pro477=) |
single nucleotide variant |
Long QT syndrome [RCV003647680] |
Chr11:2661998 [GRCh38]
Chr11:2683228 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter) |
single nucleotide variant |
Long QT syndrome [RCV003648895] |
Chr11:2445200 [GRCh38]
Chr11:2466430 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1251+9C>T |
single nucleotide variant |
Long QT syndrome [RCV003648936] |
Chr11:2587701 [GRCh38]
Chr11:2608931 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1128+9C>T |
single nucleotide variant |
Long QT syndrome [RCV003828898] |
Chr11:2585316 [GRCh38]
Chr11:2606546 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.382G>A (p.Ala128Thr) |
single nucleotide variant |
Long QT syndrome [RCV003649002] |
Chr11:2445480 [GRCh38]
Chr11:2466710 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1632G>A (p.Gln544=) |
single nucleotide variant |
Long QT syndrome [RCV003648227] |
Chr11:2776001 [GRCh38]
Chr11:2797231 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.922-12C>T |
single nucleotide variant |
Long QT syndrome [RCV003649047] |
Chr11:2583423 [GRCh38]
Chr11:2604653 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.587dup (p.Pro197fs) |
duplication |
Long QT syndrome [RCV003648323] |
Chr11:2570735..2570736 [GRCh38]
Chr11:2591965..2591966 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1047G>C (p.Ser349=) |
single nucleotide variant |
Long QT syndrome [RCV003648343] |
Chr11:2585226 [GRCh38]
Chr11:2606456 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu) |
single nucleotide variant |
Long QT syndrome [RCV003648949] |
Chr11:2572057 [GRCh38]
Chr11:2593287 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys) |
single nucleotide variant |
Long QT syndrome [RCV003648399] |
Chr11:2572980 [GRCh38]
Chr11:2594210 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1505A>C (p.His502Pro) |
single nucleotide variant |
Long QT syndrome [RCV003647708] |
Chr11:2662072 [GRCh38]
Chr11:2683302 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.661G>A (p.Val221Met) |
single nucleotide variant |
Long QT syndrome [RCV003647728] |
Chr11:2571381 [GRCh38]
Chr11:2592611 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592310]|Long QT syndrome [RCV003779315] |
Chr11:2847843 [GRCh38]
Chr11:2869073 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.478-12C>G |
single nucleotide variant |
Long QT syndrome [RCV003878669] |
Chr11:2570616 [GRCh38]
Chr11:2591846 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del) |
deletion |
Long QT syndrome [RCV003648391] |
Chr11:2572048..2572053 [GRCh38]
Chr11:2593278..2593283 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1830C>G (p.Thr610=) |
single nucleotide variant |
Long QT syndrome [RCV003648957] |
Chr11:2847802 [GRCh38]
Chr11:2869032 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.495G>A (p.Val165=) |
single nucleotide variant |
Long QT syndrome [RCV003649077] |
Chr11:2570645 [GRCh38]
Chr11:2591875 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.474G>C (p.Trp158Cys) |
single nucleotide variant |
Long QT syndrome [RCV003649091] |
Chr11:2528015 [GRCh38]
Chr11:2549245 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.468C>T (p.Leu156=) |
single nucleotide variant |
Long QT syndrome [RCV003829370] |
Chr11:2528009 [GRCh38]
Chr11:2549239 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.15C>T (p.Ser5=) |
single nucleotide variant |
Long QT syndrome [RCV003648538] |
Chr11:2445113 [GRCh38]
Chr11:2466343 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.604+7C>T |
single nucleotide variant |
Long QT syndrome [RCV003648591] |
Chr11:2570761 [GRCh38]
Chr11:2591991 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1587C>T (p.Phe529=) |
single nucleotide variant |
Long QT syndrome [RCV003648653] |
Chr11:2768916 [GRCh38]
Chr11:2790146 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1638G>T (p.Ser546=) |
single nucleotide variant |
Long QT syndrome [RCV003648756] |
Chr11:2776007 [GRCh38]
Chr11:2797237 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp) |
indel |
Long QT syndrome [RCV003647685] |
Chr11:2585274..2585275 [GRCh38]
Chr11:2606504..2606505 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.288G>T (p.Thr96=) |
single nucleotide variant |
Long QT syndrome [RCV003648787] |
Chr11:2445386 [GRCh38]
Chr11:2466616 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.28G>A (p.Ala10Thr) |
single nucleotide variant |
Long QT syndrome [RCV003648795] |
Chr11:2445126 [GRCh38]
Chr11:2466356 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1033-14C>A |
single nucleotide variant |
Long QT syndrome [RCV003648845] |
Chr11:2585198 [GRCh38]
Chr11:2606428 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu) |
single nucleotide variant |
Long QT syndrome [RCV003648885] |
Chr11:2583528 [GRCh38]
Chr11:2604758 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1406C>T (p.Pro469Leu) |
single nucleotide variant |
Long QT syndrome [RCV003648690] |
Chr11:2661973 [GRCh38]
Chr11:2683203 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1515-16C>T |
single nucleotide variant |
Long QT syndrome [RCV003880236] |
Chr11:2768828 [GRCh38]
Chr11:2790058 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.66C>A (p.Gly22=) |
single nucleotide variant |
Long QT syndrome [RCV003648049] |
Chr11:2445164 [GRCh38]
Chr11:2466394 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1689G>A (p.Leu563=) |
single nucleotide variant |
Cardiac arrhythmia [RCV003592308]|Long QT syndrome [RCV003647993] |
Chr11:2776989 [GRCh38]
Chr11:2798219 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1783G>T (p.Val595Leu) |
single nucleotide variant |
Long QT syndrome [RCV003647432] |
Chr11:2778026 [GRCh38]
Chr11:2799256 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.869A>G (p.Glu290Gly) |
single nucleotide variant |
Long QT syndrome [RCV003647488] |
Chr11:2572934 [GRCh38]
Chr11:2594164 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1515-10T>C |
single nucleotide variant |
Long QT syndrome [RCV003648670] |
Chr11:2768834 [GRCh38]
Chr11:2790064 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1867A>G (p.Ser623Gly) |
single nucleotide variant |
Long QT syndrome [RCV003648464] |
Chr11:2847839 [GRCh38]
Chr11:2869069 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1947C>A (p.Asp649Glu) |
single nucleotide variant |
Long QT syndrome [RCV003880004] |
Chr11:2847919 [GRCh38]
Chr11:2869149 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.687C>T (p.Gly229=) |
single nucleotide variant |
Long QT syndrome [RCV003648489] |
Chr11:2572016 [GRCh38]
Chr11:2593246 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.2014C>G (p.Pro672Ala) |
single nucleotide variant |
Long QT syndrome [RCV003647307] |
Chr11:2847986 [GRCh38]
Chr11:2869216 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1737G>A (p.Lys579=) |
single nucleotide variant |
Long QT syndrome [RCV003647683] |
Chr11:2777980 [GRCh38]
Chr11:2799210 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.402G>C (p.Leu134=) |
single nucleotide variant |
Long QT syndrome [RCV003647687] |
Chr11:2527943 [GRCh38]
Chr11:2549173 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1375G>T (p.Asp459Tyr) |
single nucleotide variant |
Long QT syndrome [RCV003648219] |
Chr11:2588836 [GRCh38]
Chr11:2610066 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.296C>T (p.Pro99Leu) |
single nucleotide variant |
Long QT syndrome [RCV003648504] |
Chr11:2445394 [GRCh38]
Chr11:2466624 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.294C>A (p.Arg98=) |
single nucleotide variant |
Long QT syndrome [RCV003647333] |
Chr11:2445392 [GRCh38]
Chr11:2466622 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1129-4_1151del |
deletion |
Long QT syndrome [RCV003827451] |
Chr11:2587565..2587591 [GRCh38]
Chr11:2608795..2608821 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.2021A>T (p.Glu674Val) |
single nucleotide variant |
Long QT syndrome [RCV003647707] |
Chr11:2847993 [GRCh38]
Chr11:2869223 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.666del (p.Phe222fs) |
deletion |
Long QT syndrome [RCV003647713] |
Chr11:2571384 [GRCh38]
Chr11:2592614 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.922-7C>T |
single nucleotide variant |
Long QT syndrome [RCV003648336] |
Chr11:2583428 [GRCh38]
Chr11:2604658 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs) |
deletion |
Long QT syndrome [RCV003648338] |
Chr11:2583510..2583513 [GRCh38]
Chr11:2604740..2604743 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.171C>A (p.Gly57=) |
single nucleotide variant |
Long QT syndrome [RCV003648352] |
Chr11:2445269 [GRCh38]
Chr11:2466499 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1876G>C (p.Gly626Arg) |
single nucleotide variant |
Long QT syndrome [RCV003648535] |
Chr11:2847848 [GRCh38]
Chr11:2869078 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter) |
single nucleotide variant |
Long QT syndrome 1 [RCV003485922] |
Chr11:2585297 [GRCh38]
Chr11:2606527 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1739G>A (p.Ser580Asn) |
single nucleotide variant |
Long QT syndrome [RCV003534039] |
Chr11:2777982 [GRCh38]
Chr11:2799212 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.387-12C>G |
single nucleotide variant |
Long QT syndrome [RCV003534096] |
Chr11:2527916 [GRCh38]
Chr11:2549146 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1054G>C (p.Ala352Pro) |
single nucleotide variant |
Long QT syndrome [RCV003532456] |
Chr11:2585233 [GRCh38]
Chr11:2606463 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs) |
deletion |
Long QT syndrome [RCV003534248] |
Chr11:2572855..2572856 [GRCh38]
Chr11:2594085..2594086 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1590+18C>T |
single nucleotide variant |
Long QT syndrome [RCV003534273] |
Chr11:2768937 [GRCh38]
Chr11:2790167 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.615G>A (p.Val205=) |
single nucleotide variant |
Long QT syndrome [RCV003534219] |
Chr11:2571335 [GRCh38]
Chr11:2592565 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1733-10T>A |
single nucleotide variant |
Long QT syndrome [RCV003531507] |
Chr11:2777966 [GRCh38]
Chr11:2799196 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1839T>A (p.Leu613=) |
single nucleotide variant |
Long QT syndrome [RCV003832398] |
Chr11:2847811 [GRCh38]
Chr11:2869041 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.386+18C>A |
single nucleotide variant |
Long QT syndrome [RCV003531635] |
Chr11:2445502 [GRCh38]
Chr11:2466732 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1783G>A (p.Val595Ile) |
single nucleotide variant |
Long QT syndrome [RCV003832434] |
Chr11:2778026 [GRCh38]
Chr11:2799256 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs) |
deletion |
Long QT syndrome [RCV003531690] |
Chr11:2445145..2445146 [GRCh38]
Chr11:2466375..2466376 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.294C>T (p.Arg98=) |
single nucleotide variant |
Long QT syndrome [RCV003531658] |
Chr11:2445392 [GRCh38]
Chr11:2466622 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9T>C |
single nucleotide variant |
Long QT syndrome [RCV003531747] |
Chr11:2661952 [GRCh38]
Chr11:2683182 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+2T>G |
single nucleotide variant |
Long QT syndrome [RCV003531748] |
Chr11:2445486 [GRCh38]
Chr11:2466716 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1122del (p.Ile375fs) |
deletion |
Long QT syndrome [RCV003533868] |
Chr11:2585301 [GRCh38]
Chr11:2606531 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1685+15A>G |
single nucleotide variant |
Long QT syndrome [RCV003531621] |
Chr11:2776069 [GRCh38]
Chr11:2797299 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.901G>T (p.Asp301Tyr) |
single nucleotide variant |
Long QT syndrome [RCV003533893] |
Chr11:2572966 [GRCh38]
Chr11:2594196 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1405C>T (p.Pro469Ser) |
single nucleotide variant |
Long QT syndrome [RCV003531888] |
Chr11:2661972 [GRCh38]
Chr11:2683202 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1301G>A (p.Gly434Glu) |
single nucleotide variant |
Long QT syndrome [RCV003532448] |
Chr11:2588762 [GRCh38]
Chr11:2609992 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1685+16C>T |
single nucleotide variant |
Long QT syndrome [RCV003839226] |
Chr11:2776070 [GRCh38]
Chr11:2797300 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe) |
single nucleotide variant |
Long QT syndrome [RCV003532506] |
Chr11:2776003 [GRCh38]
Chr11:2797233 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1795-3C>T |
single nucleotide variant |
Long QT syndrome [RCV003532529] |
Chr11:2847764 [GRCh38]
Chr11:2868994 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg) |
single nucleotide variant |
Long QT syndrome [RCV003534186] |
Chr11:2572978 [GRCh38]
Chr11:2594208 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.605-18C>T |
single nucleotide variant |
Long QT syndrome [RCV003534218] |
Chr11:2571307 [GRCh38]
Chr11:2592537 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1323C>A (p.Pro441=) |
single nucleotide variant |
Long QT syndrome [RCV003534245] |
Chr11:2588784 [GRCh38]
Chr11:2610014 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1248G>C (p.Val416=) |
single nucleotide variant |
Long QT syndrome [RCV003851885] |
Chr11:2587689 [GRCh38]
Chr11:2608919 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1158C>T (p.Asn386=) |
single nucleotide variant |
Long QT syndrome [RCV003531595] |
Chr11:2587599 [GRCh38]
Chr11:2608829 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.477+1G>C |
single nucleotide variant |
Long QT syndrome [RCV003534268] |
Chr11:2528019 [GRCh38]
Chr11:2549249 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1476del (p.Glu494fs) |
deletion |
Long QT syndrome [RCV003534286] |
Chr11:2662042 [GRCh38]
Chr11:2683272 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser) |
single nucleotide variant |
Long QT syndrome [RCV003531724] |
Chr11:2570677 [GRCh38]
Chr11:2591907 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1597C>G (p.Arg533Gly) |
single nucleotide variant |
Long QT syndrome [RCV003531754] |
Chr11:2775966 [GRCh38]
Chr11:2797196 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1129-18C>T |
single nucleotide variant |
Long QT syndrome [RCV003834018] |
Chr11:2587552 [GRCh38]
Chr11:2608782 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.478-8C>A |
single nucleotide variant |
Long QT syndrome [RCV003531791] |
Chr11:2570620 [GRCh38]
Chr11:2591850 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.865A>G (p.Asn289Asp) |
single nucleotide variant |
Long QT syndrome [RCV003531805] |
Chr11:2572930 [GRCh38]
Chr11:2594160 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1794+17G>A |
single nucleotide variant |
Long QT syndrome [RCV003533914] |
Chr11:2778054 [GRCh38]
Chr11:2799284 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1587C>A (p.Phe529Leu) |
single nucleotide variant |
Long QT syndrome [RCV003532486] |
Chr11:2768916 [GRCh38]
Chr11:2790146 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.200C>G (p.Pro67Arg) |
single nucleotide variant |
Long QT syndrome [RCV003531648] |
Chr11:2445298 [GRCh38]
Chr11:2466528 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1794+5G>A |
single nucleotide variant |
Long QT syndrome [RCV003531629] |
Chr11:2778042 [GRCh38]
Chr11:2799272 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1032+4G>C |
single nucleotide variant |
Long QT syndrome [RCV003855808] |
Chr11:2583549 [GRCh38]
Chr11:2604779 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1223C>G (p.Pro408Arg) |
single nucleotide variant |
Long QT syndrome [RCV003817462] |
Chr11:2587664 [GRCh38]
Chr11:2608894 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.32A>G (p.Glu11Gly) |
single nucleotide variant |
Long QT syndrome [RCV003534092] |
Chr11:2445130 [GRCh38]
Chr11:2466360 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu) |
single nucleotide variant |
Long QT syndrome [RCV003534205] |
Chr11:2570653 [GRCh38]
Chr11:2591883 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala) |
single nucleotide variant |
Long QT syndrome [RCV003531560] |
Chr11:2572904 [GRCh38]
Chr11:2594134 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1055C>A (p.Ala352Asp) |
single nucleotide variant |
Long QT syndrome [RCV003531677] |
Chr11:2585234 [GRCh38]
Chr11:2606464 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs) |
deletion |
Long QT syndrome [RCV003534066] |
Chr11:2768885..2768888 [GRCh38]
Chr11:2790115..2790118 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1795G>C (p.Val599Leu) |
single nucleotide variant |
Long QT syndrome [RCV003534080] |
Chr11:2847767 [GRCh38]
Chr11:2868997 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1359G>A (p.Leu453=) |
single nucleotide variant |
Long QT syndrome [RCV003534201] |
Chr11:2588820 [GRCh38]
Chr11:2610050 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.683+12C>A |
single nucleotide variant |
Long QT syndrome [RCV003531610] |
Chr11:2571415 [GRCh38]
Chr11:2592645 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.386+13A>G |
single nucleotide variant |
Long QT syndrome [RCV003854684] |
Chr11:2445497 [GRCh38]
Chr11:2466727 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1252-20T>C |
single nucleotide variant |
Long QT syndrome [RCV003531790] |
Chr11:2588693 [GRCh38]
Chr11:2609923 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1877G>T (p.Gly626Val) |
single nucleotide variant |
Long QT syndrome [RCV003833208] |
Chr11:2847849 [GRCh38]
Chr11:2869079 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.130G>A (p.Gly44Ser) |
single nucleotide variant |
Long QT syndrome [RCV003814782] |
Chr11:2445228 [GRCh38]
Chr11:2466458 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1252-19G>C |
single nucleotide variant |
Long QT syndrome [RCV003531828] |
Chr11:2588694 [GRCh38]
Chr11:2609924 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+19G>A |
single nucleotide variant |
Long QT syndrome [RCV003820013] |
Chr11:2588873 [GRCh38]
Chr11:2610103 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.134C>T (p.Pro45Leu) |
single nucleotide variant |
Long QT syndrome [RCV003861504] |
Chr11:2445232 [GRCh38]
Chr11:2466462 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.656G>A (p.Gly219Glu) |
single nucleotide variant |
Long QT syndrome [RCV003863353] |
Chr11:2571376 [GRCh38]
Chr11:2592606 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1527C>A (p.His509Gln) |
single nucleotide variant |
Long QT syndrome [RCV003858151] |
Chr11:2768856 [GRCh38]
Chr11:2790086 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1499T>C (p.Ile500Thr) |
single nucleotide variant |
Long QT syndrome [RCV003860968] |
Chr11:2662066 [GRCh38]
Chr11:2683296 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1482G>T (p.Glu494Asp) |
single nucleotide variant |
Long QT syndrome [RCV003822218] |
Chr11:2662049 [GRCh38]
Chr11:2683279 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+37196C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003968902]|not provided [RCV003886743] |
Chr11:2699277 [GRCh38]
Chr11:2720507 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+23871G>C |
single nucleotide variant |
KCNQ1-related condition [RCV003931368]|not provided [RCV003886746] |
Chr11:2685952 [GRCh38]
Chr11:2707182 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.780+11C>G |
single nucleotide variant |
Long QT syndrome [RCV003847830] |
Chr11:2572120 [GRCh38]
Chr11:2593350 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.780+13G>A |
single nucleotide variant |
Long QT syndrome [RCV003847831] |
Chr11:2572122 [GRCh38]
Chr11:2593352 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1129-17C>T |
single nucleotide variant |
Long QT syndrome [RCV003868705] |
Chr11:2587553 [GRCh38]
Chr11:2608783 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+12222G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003949088]|not provided [RCV003885560] |
Chr11:2674303 [GRCh38]
Chr11:2695533 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3851A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003941677] |
Chr11:2665932 [GRCh38]
Chr11:2687162 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1795-14C>G |
single nucleotide variant |
Long QT syndrome [RCV003865259] |
Chr11:2847753 [GRCh38]
Chr11:2868983 [GRCh37]
Chr11:11p15.4 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+36564T>A |
single nucleotide variant |
KCNQ1-related condition [RCV003941357] |
Chr11:2698645 [GRCh38]
Chr11:2719875 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu) |
single nucleotide variant |
Long QT syndrome [RCV003842940] |
Chr11:2572976 [GRCh38]
Chr11:2594206 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.213C>A (p.Ala71=) |
single nucleotide variant |
Long QT syndrome [RCV003848108] |
Chr11:2445311 [GRCh38]
Chr11:2466541 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.2021A>G (p.Glu674Gly) |
single nucleotide variant |
Long QT syndrome [RCV003818661] |
Chr11:2847993 [GRCh38]
Chr11:2869223 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+26983C>T |
single nucleotide variant |
not provided [RCV003886744] |
Chr11:2689064 [GRCh38]
Chr11:2710294 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+32806T>C |
single nucleotide variant |
not provided [RCV003886754] |
Chr11:2621660 [GRCh38]
Chr11:2642890 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-29767_1394-29758del |
deletion |
not provided [RCV003886755] |
Chr11:2632183..2632192 [GRCh38]
Chr11:2653413..2653422 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-16993dup |
duplication |
not provided [RCV003886818] |
Chr11:2644965..2644966 [GRCh38]
Chr11:2666195..2666196 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+10376G>A |
single nucleotide variant |
not provided [RCV003886873] |
Chr11:2672457 [GRCh38]
Chr11:2693687 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+37221G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003912028] |
Chr11:2699302 [GRCh38]
Chr11:2720532 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+24310C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003899209] |
Chr11:2613164 [GRCh38]
Chr11:2634394 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+33248TG[7] |
microsatellite |
KCNQ1-related condition [RCV003919827] |
Chr11:2695329..2695330 [GRCh38]
Chr11:2716559..2716560 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+6788T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003899570] |
Chr11:2668869 [GRCh38]
Chr11:2690099 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+20395GAGT[13] |
microsatellite |
KCNQ1-related condition [RCV003896987] |
Chr11:2682475..2682476 [GRCh38]
Chr11:2703705..2703706 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+28418G>C |
single nucleotide variant |
not provided [RCV003886817] |
Chr11:2690499 [GRCh38]
Chr11:2711729 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+212T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003947379] |
Chr11:2662293 [GRCh38]
Chr11:2683523 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4271T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003924414] |
Chr11:2666352 [GRCh38]
Chr11:2687582 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4281T>A |
single nucleotide variant |
KCNQ1-related condition [RCV003924389] |
Chr11:2666362 [GRCh38]
Chr11:2687592 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+27963C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003982029] |
Chr11:2690044 [GRCh38]
Chr11:2711274 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+1025C>T |
single nucleotide variant |
not provided [RCV003887338] |
Chr11:2663106 [GRCh38]
Chr11:2684336 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+19202C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003982471] |
Chr11:2681283 [GRCh38]
Chr11:2702513 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-11948T>G |
single nucleotide variant |
not provided [RCV003887583] |
Chr11:2650013 [GRCh38]
Chr11:2671243 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+8226G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003949236] |
Chr11:2670307 [GRCh38]
Chr11:2691537 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-354C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003957155] |
Chr11:2661607 [GRCh38]
Chr11:2682837 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4774T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003979079] |
Chr11:2666855 [GRCh38]
Chr11:2688085 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+23043T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003944056] |
Chr11:2685124 [GRCh38]
Chr11:2706354 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-22435G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003983630] |
Chr11:2639526 [GRCh38]
Chr11:2660756 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+1508G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003901958] |
Chr11:2663589 [GRCh38]
Chr11:2684819 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+36433G>T |
single nucleotide variant |
KCNQ1-related condition [RCV003967342] |
Chr11:2625287 [GRCh38]
Chr11:2646517 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+25879A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003896662] |
Chr11:2614733 [GRCh38]
Chr11:2635963 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+36536A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003974629] |
Chr11:2625390 [GRCh38]
Chr11:2646620 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+18145_1514+18146dup |
duplication |
KCNQ1-related condition [RCV003904252] |
Chr11:2680206..2680207 [GRCh38]
Chr11:2701436..2701437 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+19385C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003904426] |
Chr11:2681466 [GRCh38]
Chr11:2702696 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+12751_1514+12753del |
deletion |
KCNQ1-related condition [RCV003959510] |
Chr11:2674832..2674834 [GRCh38]
Chr11:2696062..2696064 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8227A>G |
single nucleotide variant |
not provided [RCV003886751] |
Chr11:2653734 [GRCh38]
Chr11:2674964 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+27378del |
deletion |
not provided [RCV003886767] |
Chr11:2616224 [GRCh38]
Chr11:2637454 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+5344C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003919446] |
Chr11:2667425 [GRCh38]
Chr11:2688655 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+26422T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003981846] |
Chr11:2688503 [GRCh38]
Chr11:2709733 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-34133G>A |
single nucleotide variant |
not provided [RCV003886748] |
Chr11:2627828 [GRCh38]
Chr11:2649058 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-29634A>T |
single nucleotide variant |
not provided [RCV003886757] |
Chr11:2632327 [GRCh38]
Chr11:2653557 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+25752G>C |
single nucleotide variant |
not provided [RCV003886777] |
Chr11:2614606 [GRCh38]
Chr11:2635836 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+35192T>C |
single nucleotide variant |
not provided [RCV003886796] |
Chr11:2624046 [GRCh38]
Chr11:2645276 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+26927G>C |
single nucleotide variant |
KCNQ1-related condition [RCV003981889] |
Chr11:2689008 [GRCh38]
Chr11:2710238 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-27651CCCTCCC[2] |
microsatellite |
KCNQ1-related condition [RCV003936788] |
Chr11:2634310..2634316 [GRCh38]
Chr11:2655540..2655546 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+30767_1514+30768del |
deletion |
KCNQ1-related condition [RCV003899019] |
Chr11:2692847..2692848 [GRCh38]
Chr11:2714077..2714078 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-234C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003977387] |
Chr11:2661727 [GRCh38]
Chr11:2682957 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-18071dup |
duplication |
KCNQ1-related condition [RCV003981932] |
Chr11:2643885..2643886 [GRCh38]
Chr11:2665115..2665116 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37562C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003979013] |
Chr11:2699643 [GRCh38]
Chr11:2720873 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+21863C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003907072] |
Chr11:2683944 [GRCh38]
Chr11:2705174 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9617C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003921778] |
Chr11:2652344 [GRCh38]
Chr11:2673574 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+148C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003966902] |
Chr11:2662229 [GRCh38]
Chr11:2683459 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-5870G>T |
single nucleotide variant |
KCNQ1-related condition [RCV003899800] |
Chr11:2656091 [GRCh38]
Chr11:2677321 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+30338C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003982262] |
Chr11:2692419 [GRCh38]
Chr11:2713649 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21384_1394-21383del |
deletion |
KCNQ1-related condition [RCV003979485] |
Chr11:2640563..2640564 [GRCh38]
Chr11:2661793..2661794 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+17668G>C |
single nucleotide variant |
KCNQ1-related condition [RCV003961972] |
Chr11:2679749 [GRCh38]
Chr11:2700979 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4203G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003937142] |
Chr11:2666284 [GRCh38]
Chr11:2687514 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-9268G>T |
single nucleotide variant |
KCNQ1-related condition [RCV003913845] |
Chr11:2652693 [GRCh38]
Chr11:2673923 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-33873A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003913993] |
Chr11:2628088 [GRCh38]
Chr11:2649318 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9616G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003982444] |
Chr11:2652345 [GRCh38]
Chr11:2673575 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-9510C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003916862] |
Chr11:2652451 [GRCh38]
Chr11:2673681 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13894_1394-13893dup |
duplication |
KCNQ1-related condition [RCV003916839] |
Chr11:2648051..2648052 [GRCh38]
Chr11:2669281..2669282 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+6982A>C |
single nucleotide variant |
KCNQ1-related condition [RCV003974416] |
Chr11:2669063 [GRCh38]
Chr11:2690293 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+36078T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003917040] |
Chr11:2698159 [GRCh38]
Chr11:2719389 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+2636C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003979550] |
Chr11:2664717 [GRCh38]
Chr11:2685947 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21634C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003979209] |
Chr11:2640327 [GRCh38]
Chr11:2661557 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32792C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003983523] |
Chr11:2621646 [GRCh38]
Chr11:2642876 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-515G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003964471] |
Chr11:2661446 [GRCh38]
Chr11:2682676 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4272G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003932010] |
Chr11:2666353 [GRCh38]
Chr11:2687583 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+22706C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003901408] |
Chr11:2684787 [GRCh38]
Chr11:2706017 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8755G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003972228] |
Chr11:2653206 [GRCh38]
Chr11:2674436 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4945C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003957388] |
Chr11:2667026 [GRCh38]
Chr11:2688256 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+7029T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003897242] |
Chr11:2669110 [GRCh38]
Chr11:2690340 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+23631G>C |
single nucleotide variant |
KCNQ1-related condition [RCV003974756] |
Chr11:2612485 [GRCh38]
Chr11:2633715 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+21582A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003927178] |
Chr11:2610436 [GRCh38]
Chr11:2631666 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-34567G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003984671] |
Chr11:2627394 [GRCh38]
Chr11:2648624 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+16295A>T |
single nucleotide variant |
KCNQ1-related condition [RCV003896370] |
Chr11:2678376 [GRCh38]
Chr11:2699606 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+517C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003922054] |
Chr11:2662598 [GRCh38]
Chr11:2683828 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+24568A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003967197] |
Chr11:2613422 [GRCh38]
Chr11:2634652 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+1058C>G |
single nucleotide variant |
not provided [RCV003886752] |
Chr11:2663139 [GRCh38]
Chr11:2684369 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+16327C>T |
single nucleotide variant |
not provided [RCV003886779] |
Chr11:2678408 [GRCh38]
Chr11:2699638 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+8451C>T |
single nucleotide variant |
not provided [RCV003886760] |
Chr11:2670532 [GRCh38]
Chr11:2691762 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+27171A>C |
single nucleotide variant |
not provided [RCV003886778] |
Chr11:2616025 [GRCh38]
Chr11:2637255 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+29608C>A |
single nucleotide variant |
not provided [RCV003886780] |
Chr11:2691689 [GRCh38]
Chr11:2712919 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+5605G>A |
single nucleotide variant |
not provided [RCV003886786] |
Chr11:2667686 [GRCh38]
Chr11:2688916 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+31139G>A |
single nucleotide variant |
not provided [RCV003886802] |
Chr11:2619993 [GRCh38]
Chr11:2641223 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+21G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003959581] |
Chr11:2662102 [GRCh38]
Chr11:2683332 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8944G>C |
single nucleotide variant |
KCNQ1-related condition [RCV003969483] |
Chr11:2653017 [GRCh38]
Chr11:2674247 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+5789T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003917004] |
Chr11:2667870 [GRCh38]
Chr11:2689100 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+3032C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003969803] |
Chr11:2665113 [GRCh38]
Chr11:2686343 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-12958_1394-12957del |
deletion |
KCNQ1-related condition [RCV003964354] |
Chr11:2648982..2648983 [GRCh38]
Chr11:2670212..2670213 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+23479C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003916814] |
Chr11:2685560 [GRCh38]
Chr11:2706790 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31359_1393+31360insA |
insertion |
KCNQ1-related condition [RCV003917053] |
Chr11:2620213..2620214 [GRCh38]
Chr11:2641443..2641444 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-30525dup |
duplication |
KCNQ1-related condition [RCV003917209] |
Chr11:2631426..2631427 [GRCh38]
Chr11:2652656..2652657 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+27511T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003977382] |
Chr11:2689592 [GRCh38]
Chr11:2710822 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32343C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003981773] |
Chr11:2621197 [GRCh38]
Chr11:2642427 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+2565T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003964387] |
Chr11:2664646 [GRCh38]
Chr11:2685876 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+15479C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003893590] |
Chr11:2677560 [GRCh38]
Chr11:2698790 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+2553T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003981958] |
Chr11:2664634 [GRCh38]
Chr11:2685864 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+5130del |
deletion |
KCNQ1-related condition [RCV003904360] |
Chr11:2667207 [GRCh38]
Chr11:2688437 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+9589del |
deletion |
KCNQ1-related condition [RCV003982024] |
Chr11:2671670 [GRCh38]
Chr11:2692900 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-661A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003907392] |
Chr11:2661300 [GRCh38]
Chr11:2682530 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-32353A>G |
single nucleotide variant |
not provided [RCV003886756] |
Chr11:2629608 [GRCh38]
Chr11:2650838 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-30965C>T |
single nucleotide variant |
not provided [RCV003886749] |
Chr11:2630996 [GRCh38]
Chr11:2652226 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-19812A>G |
single nucleotide variant |
not provided [RCV003886750] |
Chr11:2642149 [GRCh38]
Chr11:2663379 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+24587A>G |
single nucleotide variant |
not provided [RCV003886776] |
Chr11:2613441 [GRCh38]
Chr11:2634671 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+23645C>G |
single nucleotide variant |
not provided [RCV003886793] |
Chr11:2612499 [GRCh38]
Chr11:2633729 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-36404C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003977275] |
Chr11:2625557 [GRCh38]
Chr11:2646787 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+19470C>T |
single nucleotide variant |
not provided [RCV003887659] |
Chr11:2681551 [GRCh38]
Chr11:2702781 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+21709T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003893797] |
Chr11:2610563 [GRCh38]
Chr11:2631793 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+18147G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003894496] |
Chr11:2680228 [GRCh38]
Chr11:2701458 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-7850C>G |
single nucleotide variant |
KCNQ1-related condition [RCV003894515] |
Chr11:2654111 [GRCh38]
Chr11:2675341 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+23369del |
deletion |
KCNQ1-related condition [RCV003971884] |
Chr11:2612223 [GRCh38]
Chr11:2633453 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+24883C>A |
single nucleotide variant |
KCNQ1-related condition [RCV003921664] |
Chr11:2613737 [GRCh38]
Chr11:2634967 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1686-6C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003943982] |
Chr11:2776980 [GRCh38]
Chr11:2798210 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+17117T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003896317] |
Chr11:2679198 [GRCh38]
Chr11:2700428 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4000A>G |
single nucleotide variant |
KCNQ1-related condition [RCV003922069] |
Chr11:2666081 [GRCh38]
Chr11:2687311 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-8623C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003967175] |
Chr11:2653338 [GRCh38]
Chr11:2674568 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+7220T>C |
single nucleotide variant |
KCNQ1-related condition [RCV003979644] |
Chr11:2669301 [GRCh38]
Chr11:2690531 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+36979T>A |
single nucleotide variant |
KCNQ1-related condition [RCV003909683] |
Chr11:2699060 [GRCh38]
Chr11:2720290 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4305C>T |
single nucleotide variant |
KCNQ1-related condition [RCV003959004] |
Chr11:2666386 [GRCh38]
Chr11:2687616 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3405G>A |
single nucleotide variant |
KCNQ1-related condition [RCV003917322] |
Chr11:2665486 [GRCh38]
Chr11:2686716 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32098_1393+32099insGT |
insertion |
not provided [RCV003886738] |
Chr11:2620951..2620952 [GRCh38]
Chr11:2642181..2642182 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360858] |
Chr11:2847791 [GRCh38]
Chr11:2869021 [GRCh37]
Chr11:11p15.4 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-12702T>A |
single nucleotide variant |
not provided [RCV003326811] |
Chr11:2649259 [GRCh38]
Chr11:2670489 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-18545G>A |
single nucleotide variant |
not provided [RCV003334130] |
Chr11:2643416 [GRCh38]
Chr11:2664646 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+35379G>A |
single nucleotide variant |
not provided [RCV003334128] |
Chr11:2624233 [GRCh38]
Chr11:2645463 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1794+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV003360857] |
Chr11:2778039 [GRCh38]
Chr11:2799269 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
