| 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.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 |
| NG_008935.1:g.(21725_81488)_(328930_337985)del |
deletion |
Beckwith-Wiedemann syndrome [RCV000006181] |
Chr11:11p15.5 |
pathogenic |
| 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 11p15.5-15.4(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 |
| 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 |
| 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.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.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|no classifications from unflagged records|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|likely 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.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.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.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 |
| 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 11p15.5-15.4(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 11p15.5-15.4(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 |
| 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 |
| 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.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.1394-1G>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001842872]|Cardiovascular phenotype [RCV000620890]|Long QT syndrome 1 [RCV004786497]|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.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.1456G>C (p.Ala486Pro) |
single nucleotide variant |
Long QT syndrome [RCV000205251] |
Chr11:2662023 [GRCh38]
Chr11:2683253 [GRCh37]
Chr11:11p15.5 |
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.1514+7G>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004530296]|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.1480dup (p.Glu494fs) |
duplication |
Long QT syndrome 1 [RCV000234800] |
Chr11:2662043..2662044 [GRCh38]
Chr11:2683273..2683274 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| 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.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]|not provided [RCV004706840] |
Chr11:2611500 [GRCh38]
Chr11:2632730 [GRCh37]
Chr11:11p15.5 |
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]|not provided [RCV004705218] |
Chr11:2610392 [GRCh38]
Chr11:2631622 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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]|not provided [RCV004718419] |
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.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.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.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]|not provided [RCV004718418] |
Chr11:2616965 [GRCh38]
Chr11:2638195 [GRCh37]
Chr11:11p15.5 |
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]|not provided [RCV004705217] |
Chr11:2610380 [GRCh38]
Chr11:2631610 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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.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 |
| 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.1514+19G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004539811]|Long QT syndrome [RCV002062453]|not specified [RCV000438530] |
Chr11:2662100 [GRCh38]
Chr11:2683330 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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.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 |
| GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12 |
pathogenic |
| 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-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.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.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 |
| 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 |
| 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 |
| 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 |
| 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 |
| NM_000218.3(KCNQ1):c.1514+8160A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004542069]|not provided [RCV001666044] |
Chr11:2670241 [GRCh38]
Chr11:2691471 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.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.1394-20753C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540640]|not provided [RCV003312188] |
Chr11:2641208 [GRCh38]
Chr11:2662438 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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.1393+30401G>T |
single nucleotide variant |
not provided [RCV003312184] |
Chr11:2619255 [GRCh38]
Chr11:2640485 [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.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 |
| 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.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.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.1514+156C>G |
single nucleotide variant |
not provided [RCV000831168] |
Chr11:2662237 [GRCh38]
Chr11:2683467 [GRCh37]
Chr11:11p15.5 |
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 |
| 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.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.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.1514+3290A>G |
single nucleotide variant |
Autosomal dominant KCNQ1-related disease [RCV000985027] |
Chr11:2665371 [GRCh38]
Chr11:2686601 [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.1514+291C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004542074]|not provided [RCV001677713] |
Chr11:2662372 [GRCh38]
Chr11:2683602 [GRCh37]
Chr11:11p15.5 |
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.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.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.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.1512A>C (p.Ser504=) |
single nucleotide variant |
not provided [RCV000911404] |
Chr11:2662079 [GRCh38]
Chr11:2683309 [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 |
| 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.1497C>T (p.Pro499=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841028]|Long QT syndrome [RCV004010268] |
Chr11:2662064 [GRCh38]
Chr11:2683294 [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]|Cardiovascular phenotype [RCV004619539]|KCNQ1-related disorder [RCV004733172]|Long QT syndrome [RCV002560015]|not provided [RCV001751341] |
Chr11:2662023 [GRCh38]
Chr11:2683253 [GRCh37]
Chr11:11p15.5 |
likely benign|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.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.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.1469A>G (p.Asp490Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843130]|Long QT syndrome [RCV004807371]|not provided [RCV004702669] |
Chr11:2662036 [GRCh38]
Chr11:2683266 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841116]|Cardiovascular phenotype [RCV002393439]|KCNQ1-related disorder [RCV004545111]|Long QT syndrome [RCV002560958] |
Chr11:2662026 [GRCh38]
Chr11:2683256 [GRCh37]
Chr11:11p15.5 |
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.1394-6C>A |
single nucleotide variant |
Cardiac arrhythmia [RCV001840977]|Cardiovascular phenotype [RCV004033365]|Long QT syndrome [RCV003770090]|not specified [RCV001732067] |
Chr11:2661955 [GRCh38]
Chr11:2683185 [GRCh37]
Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln) |
single nucleotide variant |
Cardiac arrhythmia [RCV001843146]|Cardiovascular phenotype [RCV004033084]|Long QT syndrome [RCV001312765]|not provided [RCV001593314] |
Chr11:2662054 [GRCh38]
Chr11:2683284 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| 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.1394-27C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004536221]|not provided [RCV001587807] |
Chr11:2661934 [GRCh38]
Chr11:2683164 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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.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.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 |
| 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.1514+37364_1514+38744del |
deletion |
Silver-Russell syndrome 1 [RCV001254930] |
Chr11:2699444..2700824 [GRCh38]
Chr11:2720674..2722054 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| 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 |
| 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(chr11:2585399-2669895)x1 |
copy number loss |
not provided [RCV001259593] |
Chr11:2585399..2669895 [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 |
| 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 1 [RCV004799605]|Long QT syndrome [RCV001871637] |
Chr11:2662027..2662028 [GRCh38]
Chr11:2683257..2683258 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+37575_1514+37600del |
deletion |
not provided [RCV004598876] |
Chr11:2699644..2699669 [GRCh38]
Chr11:2720874..2720899 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+28255G>C |
single nucleotide variant |
not provided [RCV004598878] |
Chr11:2690336 [GRCh38]
Chr11:2711566 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+23885G>C |
single nucleotide variant |
not provided [RCV004598884] |
Chr11:2685966 [GRCh38]
Chr11:2707196 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+12838A>G |
single nucleotide variant |
not provided [RCV004598909] |
Chr11:2674919 [GRCh38]
Chr11:2696149 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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 |
| 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.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.1514+46A>G |
single nucleotide variant |
not provided [RCV001684601] |
Chr11:2662127 [GRCh38]
Chr11:2683357 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.1402A>G (p.Ser468Gly) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842133]|Long QT syndrome [RCV004008868] |
Chr11:2661969 [GRCh38]
Chr11:2683199 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-1G>C |
single nucleotide variant |
Long QT syndrome [RCV001377231]|not provided [RCV004801000] |
Chr11:2661960 [GRCh38]
Chr11:2683190 [GRCh37]
Chr11:11p15.5 |
pathogenic|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+27604G>C |
single nucleotide variant |
not provided [RCV002275966] |
Chr11:2689685 [GRCh38]
Chr11:2710915 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.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.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.1449C>G (p.Asn483Lys) |
single nucleotide variant |
Long QT syndrome [RCV004806705] |
Chr11:2662016 [GRCh38]
Chr11:2683246 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1445C>A (p.Thr482Asn) |
single nucleotide variant |
Long QT syndrome [RCV004806704] |
Chr11:2662012 [GRCh38]
Chr11:2683242 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1413G>A (p.Leu471=) |
single nucleotide variant |
Long QT syndrome [RCV004806703] |
Chr11:2661980 [GRCh38]
Chr11:2683210 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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.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.1394-3C>T |
single nucleotide variant |
Long QT syndrome [RCV001905948] |
Chr11:2661958 [GRCh38]
Chr11:2683188 [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 |
| 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.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.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.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.1449C>T (p.Asn483=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004631952]|Long QT syndrome [RCV002220764] |
Chr11:2662016 [GRCh38]
Chr11:2683246 [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.1514+13A>G |
single nucleotide variant |
Long QT syndrome [RCV002201102] |
Chr11:2662094 [GRCh38]
Chr11:2683324 [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 |
| 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.(?_2629548)_(2721238_?)dup |
duplication |
Long QT syndrome [RCV003122193] |
Chr11:2629548..2721238 [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 |
| 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.1394-36145G>A |
single nucleotide variant |
not provided [RCV002275486] |
Chr11:2625816 [GRCh38]
Chr11:2647046 [GRCh37]
Chr11:11p15.5 |
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.1514+31090T>C |
single nucleotide variant |
not provided [RCV002275968] |
Chr11:2693171 [GRCh38]
Chr11:2714401 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.1514+9724A>G |
single nucleotide variant |
not provided [RCV002276366] |
Chr11:2671805 [GRCh38]
Chr11:2693035 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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+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.1394-546T>C |
single nucleotide variant |
not provided [RCV002262330] |
Chr11:2661415 [GRCh38]
Chr11:2682645 [GRCh37]
Chr11:11p15.5 |
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+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.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+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+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.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.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.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.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.1394-6379G>A |
single nucleotide variant |
not provided [RCV002292808] |
Chr11:2655582 [GRCh38]
Chr11:2676812 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.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.1514+27917G>T |
single nucleotide variant |
not provided [RCV002292829] |
Chr11:2689998 [GRCh38]
Chr11:2711228 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32122dup |
duplication |
KCNQ1-related disorder [RCV004545287]|not provided [RCV002292791] |
Chr11:2620970..2620971 [GRCh38]
Chr11:2642200..2642201 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.1394-5806C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004545288]|not provided [RCV002292809] |
Chr11:2656155 [GRCh38]
Chr11:2677385 [GRCh37]
Chr11:11p15.5 |
benign|likely 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|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.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+141C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004534042]|not provided [RCV002292816] |
Chr11:2662222 [GRCh38]
Chr11:2683452 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.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.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+3964C>T |
single nucleotide variant |
not provided [RCV002262333] |
Chr11:2666045 [GRCh38]
Chr11:2687275 [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.1393+31357del |
deletion |
not provided [RCV002262313] |
Chr11:2620211 [GRCh38]
Chr11:2641441 [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|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.1394-18524C>T |
single nucleotide variant |
not provided [RCV002262318] |
Chr11:2643437 [GRCh38]
Chr11:2664667 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13234C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004545269]|not provided [RCV002262322] |
Chr11:2648727 [GRCh38]
Chr11:2669957 [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|likely 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+10580T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004534011]|not provided [RCV002262340] |
Chr11:2672661 [GRCh38]
Chr11:2693891 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+34253G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004534032]|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+734C>T |
single nucleotide variant |
not provided [RCV002275964] |
Chr11:2662815 [GRCh38]
Chr11:2684045 [GRCh37]
Chr11:11p15.5 |
benign|likely 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|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+28622C>T |
single nucleotide variant |
not provided [RCV002262311] |
Chr11:2617476 [GRCh38]
Chr11:2638706 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+33929C>T |
single nucleotide variant |
not provided [RCV002262315] |
Chr11:2622783 [GRCh38]
Chr11:2644013 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-34447C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004534007]|not provided [RCV002262316] |
Chr11:2627514 [GRCh38]
Chr11:2648744 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-1573del |
deletion |
KCNQ1-related disorder [RCV004534008]|not provided [RCV002262328] |
Chr11:2660387 [GRCh38]
Chr11:2681617 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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+37682G>A |
single nucleotide variant |
not provided [RCV002262349] |
Chr11:2699763 [GRCh38]
Chr11:2720993 [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.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.1394-12740A>G |
single nucleotide variant |
not provided [RCV002262324] |
Chr11:2649221 [GRCh38]
Chr11:2670451 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+30318T>C |
single nucleotide variant |
not provided [RCV002262312] |
Chr11:2619172 [GRCh38]
Chr11:2640402 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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.1394-13763G>A |
single nucleotide variant |
not provided [RCV002262321] |
Chr11:2648198 [GRCh38]
Chr11:2669428 [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|likely 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.1394-1572T>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004534009]|not provided [RCV002262329] |
Chr11:2660389 [GRCh38]
Chr11:2681619 [GRCh37]
Chr11:11p15.5 |
benign|likely 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|likely benign |
| NM_000218.3(KCNQ1):c.1394-11027T>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004545270]|not provided [RCV002262325] |
Chr11:2650934 [GRCh38]
Chr11:2672164 [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.1393+24489C>T |
single nucleotide variant |
not provided [RCV002292789] |
Chr11:2613343 [GRCh38]
Chr11:2634573 [GRCh37]
Chr11:11p15.5 |
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.1394-29823G>A |
single nucleotide variant |
not provided [RCV002292794] |
Chr11:2632138 [GRCh38]
Chr11:2653368 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-20851A>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|likely 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.1394-17830A>C |
single nucleotide variant |
not provided [RCV002292800] |
Chr11:2644131 [GRCh38]
Chr11:2665361 [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.1394-15642T>C |
single nucleotide variant |
not provided [RCV002292803] |
Chr11:2646319 [GRCh38]
Chr11:2667549 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-10848C>G |
single nucleotide variant |
not provided [RCV002292805] |
Chr11:2651113 [GRCh38]
Chr11:2672343 [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.1394-3710T>C |
single nucleotide variant |
not provided [RCV002292812] |
Chr11:2658251 [GRCh38]
Chr11:2679481 [GRCh37]
Chr11:11p15.5 |
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.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+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+26113G>A |
single nucleotide variant |
not provided [RCV002292827] |
Chr11:2688194 [GRCh38]
Chr11:2709424 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.1393+31367T>A |
single nucleotide variant |
not provided [RCV002292790] |
Chr11:2620221 [GRCh38]
Chr11:2641451 [GRCh37]
Chr11:11p15.5 |
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.1514+6606T>G |
single nucleotide variant |
not provided [RCV002292821] |
Chr11:2668687 [GRCh38]
Chr11:2689917 [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.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.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.1514+3197C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004534010]|not provided [RCV002262332] |
Chr11:2665278 [GRCh38]
Chr11:2686508 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+4493A>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004545271]|not provided [RCV002262335] |
Chr11:2666574 [GRCh38]
Chr11:2687804 [GRCh37]
Chr11:11p15.5 |
benign|likely 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|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+11899GGGGT[3] |
microsatellite |
not provided [RCV002262342] |
Chr11:2673979..2673980 [GRCh38]
Chr11:2695209..2695210 [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.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+25804G>A |
single nucleotide variant |
not provided [RCV002262345] |
Chr11:2687885 [GRCh38]
Chr11:2709115 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.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.1457C>T (p.Ala486Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394733]|Long QT syndrome [RCV004808307] |
Chr11:2662024 [GRCh38]
Chr11:2683254 [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.1394-438C>T |
single nucleotide variant |
not provided [RCV002511680] |
Chr11:2661523 [GRCh38]
Chr11:2682753 [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.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.1394-3880G>T |
single nucleotide variant |
not provided [RCV002511678] |
Chr11:2658081 [GRCh38]
Chr11:2679311 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3307del |
deletion |
KCNQ1-related disorder [RCV004545333]|not provided [RCV002511683] |
Chr11:2665385 [GRCh38]
Chr11:2686615 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+8939G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004545334]|not provided [RCV002511688] |
Chr11:2671020 [GRCh38]
Chr11:2692250 [GRCh37]
Chr11:11p15.5 |
benign|likely 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+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 disorder [RCV004534113]|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.1394-8641T>C |
single nucleotide variant |
not provided [RCV002511675] |
Chr11:2653320 [GRCh38]
Chr11:2674550 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+22624C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004534115]|not provided [RCV002511691] |
Chr11:2684705 [GRCh38]
Chr11:2705935 [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.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+22149A>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004545331]|not provided [RCV002511654] |
Chr11:2611003 [GRCh38]
Chr11:2632233 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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+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+29814G>A |
single nucleotide variant |
not provided [RCV002511662] |
Chr11:2618668 [GRCh38]
Chr11:2639898 [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.1394-33298C>T |
single nucleotide variant |
not provided [RCV002511672] |
Chr11:2628663 [GRCh38]
Chr11:2649893 [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.1394-6817T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004545332]|not provided [RCV002511677] |
Chr11:2655144 [GRCh38]
Chr11:2676374 [GRCh37]
Chr11:11p15.5 |
benign|likely 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+560G>A |
single nucleotide variant |
not provided [RCV002511681] |
Chr11:2662641 [GRCh38]
Chr11:2683871 [GRCh37]
Chr11:11p15.5 |
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.1393+35447T>C |
single nucleotide variant |
not provided [RCV002511671] |
Chr11:2624301 [GRCh38]
Chr11:2645531 [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.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+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+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.1514+1083C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004534114]|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.1514+20395GAGT[7] |
microsatellite |
not provided [RCV002511690] |
Chr11:2682476..2682479 [GRCh38]
Chr11:2703706..2703709 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.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.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.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.1432del (p.His478fs) |
deletion |
Long QT syndrome 1 [RCV004796585] |
Chr11:2661996 [GRCh38]
Chr11:2683226 [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+11901G>T |
single nucleotide variant |
not provided [RCV003222702] |
Chr11:2673982 [GRCh38]
Chr11:2695212 [GRCh37]
Chr11:11p15.5 |
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+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+37562_1514+37587del |
deletion |
not provided [RCV003222710] |
Chr11:2699618..2699643 [GRCh38]
Chr11:2720848..2720873 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.1514+28055G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004538923]|not provided [RCV003222706] |
Chr11:2690136 [GRCh38]
Chr11:2711366 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+29457A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004538924]|not provided [RCV003222708] |
Chr11:2691538 [GRCh38]
Chr11:2712768 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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.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.1393+22394C>T |
single nucleotide variant |
not provided [RCV003222690] |
Chr11:2611248 [GRCh38]
Chr11:2632478 [GRCh37]
Chr11:11p15.5 |
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.1394-12095A>G |
single nucleotide variant |
not provided [RCV003222696] |
Chr11:2649866 [GRCh38]
Chr11:2671096 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.1394-11893C>T |
single nucleotide variant |
not provided [RCV003222697] |
Chr11:2650068 [GRCh38]
Chr11:2671298 [GRCh37]
Chr11:11p15.5 |
benign |
| 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+37637G>C |
single nucleotide variant |
not provided [RCV003222711] |
Chr11:2699718 [GRCh38]
Chr11:2720948 [GRCh37]
Chr11:11p15.5 |
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|likely benign |
| NM_000218.3(KCNQ1):c.1514+23744C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540631]|not provided [RCV003222704] |
Chr11:2685825 [GRCh38]
Chr11:2707055 [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 |
| 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.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.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 disorder [RCV004538942]|not provided [RCV003326820] |
Chr11:2673091 [GRCh38]
Chr11:2694321 [GRCh37]
Chr11:11p15.5 |
benign|likely 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+29959C>G |
single nucleotide variant |
not provided [RCV003326825] |
Chr11:2692040 [GRCh38]
Chr11:2713270 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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.1394-4506A>G |
single nucleotide variant |
not provided [RCV003326813] |
Chr11:2657455 [GRCh38]
Chr11:2678685 [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.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.1394-4519A>C |
single nucleotide variant |
not provided [RCV003326812] |
Chr11:2657442 [GRCh38]
Chr11:2678672 [GRCh37]
Chr11:11p15.5 |
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.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.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.1394-30776T>A |
single nucleotide variant |
not provided [RCV003326807] |
Chr11:2631185 [GRCh38]
Chr11:2652415 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.1394-15516dup |
duplication |
not provided [RCV003326810] |
Chr11:2646437..2646438 [GRCh38]
Chr11:2667667..2667668 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+549T>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004538941]|not provided [RCV003326817] |
Chr11:2662630 [GRCh38]
Chr11:2683860 [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.1394-36112G>A |
single nucleotide variant |
not provided [RCV003326806] |
Chr11:2625849 [GRCh38]
Chr11:2647079 [GRCh37]
Chr11:11p15.5 |
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.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+24102T>A |
single nucleotide variant |
not provided [RCV003424781] |
Chr11:2612956 [GRCh38]
Chr11:2634186 [GRCh37]
Chr11:11p15.5 |
benign |
| 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+29271C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004536788]|not provided [RCV003424787] |
Chr11:2618125 [GRCh38]
Chr11:2639355 [GRCh37]
Chr11:11p15.5 |
likely 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.1394-3258T>C |
single nucleotide variant |
not provided [RCV003326815] |
Chr11:2658703 [GRCh38]
Chr11:2679933 [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.1394-3979C>T |
single nucleotide variant |
not provided [RCV003326814] |
Chr11:2657982 [GRCh38]
Chr11:2679212 [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.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.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.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.1393+35379G>A |
single nucleotide variant |
not provided [RCV003334128] |
Chr11:2624233 [GRCh38]
Chr11:2645463 [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.1393+28521A>T |
single nucleotide variant |
not provided [RCV003334127] |
Chr11:2617375 [GRCh38]
Chr11:2638605 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-18545G>A |
single nucleotide variant |
not provided [RCV003334130] |
Chr11:2643416 [GRCh38]
Chr11:2664646 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.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.1394-18020C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004536789]|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.1394-16604C>T |
single nucleotide variant |
not provided [RCV003394698] |
Chr11:2645357 [GRCh38]
Chr11:2666587 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.1394-13970A>C |
single nucleotide variant |
not provided [RCV003394703] |
Chr11:2647991 [GRCh38]
Chr11:2669221 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-13142A>G |
single nucleotide variant |
not provided [RCV003394706] |
Chr11:2648819 [GRCh38]
Chr11:2670049 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9811C>T |
single nucleotide variant |
not provided [RCV003394710] |
Chr11:2652150 [GRCh38]
Chr11:2673380 [GRCh37]
Chr11:11p15.5 |
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+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+4986C>T |
single nucleotide variant |
not provided [RCV003394731] |
Chr11:2667067 [GRCh38]
Chr11:2688297 [GRCh37]
Chr11:11p15.5 |
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+28024G>A |
single nucleotide variant |
not provided [RCV003394748] |
Chr11:2690105 [GRCh38]
Chr11:2711335 [GRCh37]
Chr11:11p15.5 |
benign |
| NR_002728.4(KCNQ1OT1):n.78013dup |
duplication |
KCNQ1OT1-related disorder [RCV003419049] |
Chr11:2621981..2621982 [GRCh38]
Chr11:2643211..2643212 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| 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+25830A>G |
single nucleotide variant |
not provided [RCV003456747] |
Chr11:2614684 [GRCh38]
Chr11:2635914 [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.1514+22361G>A |
single nucleotide variant |
not provided [RCV003456757] |
Chr11:2684442 [GRCh38]
Chr11:2705672 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-19958A>G |
single nucleotide variant |
not provided [RCV003394689] |
Chr11:2642003 [GRCh38]
Chr11:2663233 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-18042G>A |
single nucleotide variant |
not provided [RCV003394691] |
Chr11:2643919 [GRCh38]
Chr11:2665149 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-12553A>G |
single nucleotide variant |
not provided [RCV003394707] |
Chr11:2649408 [GRCh38]
Chr11:2670638 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-9784dup |
duplication |
KCNQ1-related disorder [RCV004536791]|not provided [RCV003394711] |
Chr11:2652173..2652174 [GRCh38]
Chr11:2673403..2673404 [GRCh37]
Chr11:11p15.5 |
likely 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.1394-5366C>T |
single nucleotide variant |
not provided [RCV003394715] |
Chr11:2656595 [GRCh38]
Chr11:2677825 [GRCh37]
Chr11:11p15.5 |
likely 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+33613G>A |
single nucleotide variant |
not provided [RCV003394755] |
Chr11:2695694 [GRCh38]
Chr11:2716924 [GRCh37]
Chr11:11p15.5 |
benign|uncertain significance |
| 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+35672_1514+35674del |
microsatellite |
KCNQ1-related disorder [RCV004536794]|not provided [RCV003394756] |
Chr11:2697749..2697751 [GRCh38]
Chr11:2718979..2718981 [GRCh37]
Chr11:11p15.5 |
benign|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 |
| 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.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.1394-13971G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004540682]|not provided [RCV003456752] |
Chr11:2647990 [GRCh38]
Chr11:2669220 [GRCh37]
Chr11:11p15.5 |
benign|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+29634T>C |
single nucleotide variant |
not provided [RCV003424788] |
Chr11:2618488 [GRCh38]
Chr11:2639718 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+33589C>A |
single nucleotide variant |
not provided [RCV003424799] |
Chr11:2622443 [GRCh38]
Chr11:2643673 [GRCh37]
Chr11:11p15.5 |
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.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.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.1394-13764C>T |
single nucleotide variant |
not provided [RCV003456753] |
Chr11:2648197 [GRCh38]
Chr11:2669427 [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|likely 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+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+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+31365T>A |
single nucleotide variant |
not provided [RCV003424796] |
Chr11:2620219 [GRCh38]
Chr11:2641449 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.1394-27846C>T |
single nucleotide variant |
not provided [RCV003394686] |
Chr11:2634115 [GRCh38]
Chr11:2655345 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-16941T>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.1394-14441G>A |
single nucleotide variant |
not provided [RCV003394701] |
Chr11:2647520 [GRCh38]
Chr11:2668750 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-11748C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004536790]|not provided [RCV003394708] |
Chr11:2650213 [GRCh38]
Chr11:2671443 [GRCh37]
Chr11:11p15.5 |
benign|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.1394-3571A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004540657]|not provided [RCV003394719] |
Chr11:2658390 [GRCh38]
Chr11:2679620 [GRCh37]
Chr11:11p15.5 |
benign|likely 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+4399C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540659]|not provided [RCV003394728] |
Chr11:2666480 [GRCh38]
Chr11:2687710 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+4764G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004536793]|not provided [RCV003394729] |
Chr11:2666845 [GRCh38]
Chr11:2688075 [GRCh37]
Chr11:11p15.5 |
benign|likely 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+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+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.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.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+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.1393+36170A>G |
single nucleotide variant |
not provided [RCV003424804] |
Chr11:2625024 [GRCh38]
Chr11:2646254 [GRCh37]
Chr11:11p15.5 |
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.1394-17468C>T |
single nucleotide variant |
not provided [RCV003394694] |
Chr11:2644493 [GRCh38]
Chr11:2665723 [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+973G>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004536792]|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.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.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.1394-13692A>T |
single nucleotide variant |
not provided [RCV003394704] |
Chr11:2648269 [GRCh38]
Chr11:2669499 [GRCh37]
Chr11:11p15.5 |
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|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+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+17830dup |
duplication |
not provided [RCV003394742] |
Chr11:2679903..2679904 [GRCh38]
Chr11:2701133..2701134 [GRCh37]
Chr11:11p15.5 |
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.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.1394-30966C>A |
single nucleotide variant |
not provided [RCV003394684] |
Chr11:2630995 [GRCh38]
Chr11:2652225 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-17731_1394-17727dup |
duplication |
not provided [RCV003394693] |
Chr11:2644228..2644229 [GRCh38]
Chr11:2665458..2665459 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-14331G>A |
single nucleotide variant |
not provided [RCV003394702] |
Chr11:2647630 [GRCh38]
Chr11:2668860 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-5831T>C |
single nucleotide variant |
not provided [RCV003394714] |
Chr11:2656130 [GRCh38]
Chr11:2677360 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1394-3815C>G |
single nucleotide variant |
not provided [RCV003394718] |
Chr11:2658146 [GRCh38]
Chr11:2679376 [GRCh37]
Chr11:11p15.5 |
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+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+17876A>C |
single nucleotide variant |
not provided [RCV003394743] |
Chr11:2679957 [GRCh38]
Chr11:2701187 [GRCh37]
Chr11:11p15.5 |
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.1394-16988A>G |
single nucleotide variant |
not provided [RCV003394695] |
Chr11:2644973 [GRCh38]
Chr11:2666203 [GRCh37]
Chr11:11p15.5 |
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+37569G>A |
single nucleotide variant |
not provided [RCV004585668] |
Chr11:2699650 [GRCh38]
Chr11:2720880 [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.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+31369del |
deletion |
not provided [RCV003424793] |
Chr11:2620212 [GRCh38]
Chr11:2641442 [GRCh37]
Chr11:11p15.5 |
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+34464G>A |
single nucleotide variant |
not provided [RCV003424800] |
Chr11:2623318 [GRCh38]
Chr11:2644548 [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.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.1394-28351G>A |
single nucleotide variant |
not provided [RCV003456750] |
Chr11:2633610 [GRCh38]
Chr11:2654840 [GRCh37]
Chr11:11p15.5 |
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.1394-534dup |
duplication |
not provided [RCV003456755] |
Chr11:2661426..2661427 [GRCh38]
Chr11:2682656..2682657 [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+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.1514+10345C>T |
single nucleotide variant |
not provided [RCV003397868] |
Chr11:2672426 [GRCh38]
Chr11:2693656 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-15920G>A |
single nucleotide variant |
not provided [RCV003405222] |
Chr11:2646041 [GRCh38]
Chr11:2667271 [GRCh37]
Chr11:11p15.5 |
benign |
| 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 |
| 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+34768A>G |
single nucleotide variant |
not provided [RCV003424801] |
Chr11:2623622 [GRCh38]
Chr11:2644852 [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+20618A>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004536787]|not provided [RCV003424774] |
Chr11:2609472 [GRCh38]
Chr11:2630702 [GRCh37]
Chr11:11p15.5 |
benign|likely 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|likely 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|likely 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+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+30303T>A |
single nucleotide variant |
not provided [RCV003424790] |
Chr11:2619157 [GRCh38]
Chr11:2640387 [GRCh37]
Chr11:11p15.5 |
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.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.1514+2895G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004540658]|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|likely 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.1394-33297G>A |
single nucleotide variant |
not provided [RCV003394682] |
Chr11:2628664 [GRCh38]
Chr11:2649894 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-13179A>G |
single nucleotide variant |
not provided [RCV003394705] |
Chr11:2648782 [GRCh38]
Chr11:2670012 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-5270T>G |
single nucleotide variant |
not provided [RCV003394716] |
Chr11:2656691 [GRCh38]
Chr11:2677921 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3779C>T |
single nucleotide variant |
not provided [RCV003394727] |
Chr11:2665860 [GRCh38]
Chr11:2687090 [GRCh37]
Chr11:11p15.5 |
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 |
benign|likely 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+17815T>C |
single nucleotide variant |
not provided [RCV003394741] |
Chr11:2679896 [GRCh38]
Chr11:2701126 [GRCh37]
Chr11:11p15.5 |
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+30926C>T |
single nucleotide variant |
not provided [RCV003394751] |
Chr11:2693007 [GRCh38]
Chr11:2714237 [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|likely benign |
| NM_000218.3(KCNQ1):c.1514+37402C>G |
single nucleotide variant |
not provided [RCV003394757] |
Chr11:2699483 [GRCh38]
Chr11:2720713 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| 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|likely 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.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]|Long QT syndrome [RCV004011477] |
Chr11:2662047 [GRCh38]
Chr11:2683277 [GRCh37]
Chr11:11p15.5 |
pathogenic|likely pathogenic |
| 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.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.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.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.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.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.1476del (p.Glu494fs) |
deletion |
Long QT syndrome [RCV003534286] |
Chr11:2662042 [GRCh38]
Chr11:2683272 [GRCh37]
Chr11:11p15.5 |
pathogenic |
| NM_000218.3(KCNQ1):c.1514+17154C>T |
single nucleotide variant |
not provided [RCV004585646] |
Chr11:2679235 [GRCh38]
Chr11:2700465 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+28809G>A |
single nucleotide variant |
not provided [RCV004585647] |
Chr11:2690890 [GRCh38]
Chr11:2712120 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+13711G>T |
single nucleotide variant |
not provided [RCV004585650] |
Chr11:2675792 [GRCh38]
Chr11:2697022 [GRCh37]
Chr11:11p15.5 |
benign |
| 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.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.1514+23871G>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004539192]|not provided [RCV003886746] |
Chr11:2685952 [GRCh38]
Chr11:2707182 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1514+12222G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004542314]|not provided [RCV003885560] |
Chr11:2674303 [GRCh38]
Chr11:2695533 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+36564T>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004532125] |
Chr11:2698645 [GRCh38]
Chr11:2719875 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+3851A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004532148] |
Chr11:2665932 [GRCh38]
Chr11:2687162 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37196C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004542318]|not provided [RCV003886743] |
Chr11:2699277 [GRCh38]
Chr11:2720507 [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.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+24587A>G |
single nucleotide variant |
not provided [RCV003886776] |
Chr11:2613441 [GRCh38]
Chr11:2634671 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+5605G>A |
single nucleotide variant |
not provided [RCV003886786] |
Chr11:2667686 [GRCh38]
Chr11:2688916 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+24310C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004531840] |
Chr11:2613164 [GRCh38]
Chr11:2634394 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+33248TG[7] |
microsatellite |
KCNQ1-related disorder [RCV004539432] |
Chr11:2695329..2695330 [GRCh38]
Chr11:2716559..2716560 [GRCh37]
Chr11:11p15.5 |
likely 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.1394-29303T>C |
single nucleotide variant |
not provided [RCV003993204] |
Chr11:2632658 [GRCh38]
Chr11:2653888 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-33873A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004539353]|not provided [RCV004810579] |
Chr11:2628088 [GRCh38]
Chr11:2649318 [GRCh37]
Chr11:11p15.5 |
benign|likely benign |
| NM_000218.3(KCNQ1):c.1393+23369del |
deletion |
KCNQ1-related disorder [RCV004540843] |
Chr11:2612223 [GRCh38]
Chr11:2633453 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1471C>G (p.Leu491Val) |
single nucleotide variant |
Long QT syndrome [RCV004009781] |
Chr11:2662038 [GRCh38]
Chr11:2683268 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+19385C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004537089] |
Chr11:2681466 [GRCh38]
Chr11:2702696 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-34811G>C |
single nucleotide variant |
not provided [RCV003993455] |
Chr11:2627150 [GRCh38]
Chr11:2648380 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| 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+4271T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004532114] |
Chr11:2666352 [GRCh38]
Chr11:2687582 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4281T>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004532113] |
Chr11:2666362 [GRCh38]
Chr11:2687592 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+27963C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004542574] |
Chr11:2690044 [GRCh38]
Chr11:2711274 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4890G>A |
single nucleotide variant |
not provided [RCV003993207] |
Chr11:2666971 [GRCh38]
Chr11:2688201 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+35216A>G |
single nucleotide variant |
not provided [RCV003993229] |
Chr11:2697297 [GRCh38]
Chr11:2718527 [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 disorder [RCV004542611] |
Chr11:2681283 [GRCh38]
Chr11:2702513 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21667G>A |
single nucleotide variant |
not provided [RCV003993213] |
Chr11:2640294 [GRCh38]
Chr11:2661524 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+10147A>G |
single nucleotide variant |
not provided [RCV003993217] |
Chr11:2672228 [GRCh38]
Chr11:2693458 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+20104C>G |
single nucleotide variant |
not provided [RCV003993221] |
Chr11:2682185 [GRCh38]
Chr11:2703415 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+5381T>C |
single nucleotide variant |
not provided [RCV003993233] |
Chr11:2667462 [GRCh38]
Chr11:2688692 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+15479C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539195] |
Chr11:2677560 [GRCh38]
Chr11:2698790 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37500G>A |
single nucleotide variant |
not provided [RCV003993230] |
Chr11:2699581 [GRCh38]
Chr11:2720811 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-354C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004545509] |
Chr11:2661607 [GRCh38]
Chr11:2682837 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4774T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004540887] |
Chr11:2666855 [GRCh38]
Chr11:2688085 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-22435G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004544189] |
Chr11:2639526 [GRCh38]
Chr11:2660756 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+1508G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004534578] |
Chr11:2663589 [GRCh38]
Chr11:2684819 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-3914A>G |
single nucleotide variant |
not provided [RCV004546402] |
Chr11:2658047 [GRCh38]
Chr11:2679277 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+8413G>A |
single nucleotide variant |
not provided [RCV004547001] |
Chr11:2670494 [GRCh38]
Chr11:2691724 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+34458G>A |
single nucleotide variant |
not provided [RCV003993454] |
Chr11:2623312 [GRCh38]
Chr11:2644542 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+36433G>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004542519] |
Chr11:2625287 [GRCh38]
Chr11:2646517 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4305C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004544054] |
Chr11:2666386 [GRCh38]
Chr11:2687616 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+36536A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004542556] |
Chr11:2625390 [GRCh38]
Chr11:2646620 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+3405G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004532082] |
Chr11:2665486 [GRCh38]
Chr11:2686716 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+18145_1514+18146dup |
duplication |
KCNQ1-related disorder [RCV004536980] |
Chr11:2680206..2680207 [GRCh38]
Chr11:2701436..2701437 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+12751_1514+12753del |
deletion |
KCNQ1-related disorder [RCV004545554] |
Chr11:2674832..2674834 [GRCh38]
Chr11:2696062..2696064 [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.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.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+5344C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539411]|not provided [RCV004721772] |
Chr11:2667425 [GRCh38]
Chr11:2688655 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+26422T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542561] |
Chr11:2688503 [GRCh38]
Chr11:2709733 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+26983C>T |
single nucleotide variant |
not provided [RCV003886744] |
Chr11:2689064 [GRCh38]
Chr11:2710294 [GRCh37]
Chr11:11p15.5 |
benign|likely 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.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+25752G>C |
single nucleotide variant |
not provided [RCV003886777] |
Chr11:2614606 [GRCh38]
Chr11:2635836 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+212T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004545577] |
Chr11:2662293 [GRCh38]
Chr11:2683523 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+26927G>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542563] |
Chr11:2689008 [GRCh38]
Chr11:2710238 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-27651CCCTCCC[2] |
microsatellite |
KCNQ1-related disorder [RCV004532187] |
Chr11:2634310..2634316 [GRCh38]
Chr11:2655540..2655546 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-234C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004542595] |
Chr11:2661727 [GRCh38]
Chr11:2682957 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-18071dup |
duplication |
KCNQ1-related disorder [RCV004542567] |
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 disorder [RCV004540884] |
Chr11:2699643 [GRCh38]
Chr11:2720873 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+24568A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004540777] |
Chr11:2613422 [GRCh38]
Chr11:2634652 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+21863C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004537004]|not provided [RCV004573420] |
Chr11:2683944 [GRCh38]
Chr11:2705174 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9617C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539319] |
Chr11:2652344 [GRCh38]
Chr11:2673574 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+148C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004545717] |
Chr11:2662229 [GRCh38]
Chr11:2683459 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+30338C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004542583] |
Chr11:2692419 [GRCh38]
Chr11:2713649 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21384_1394-21383del |
deletion |
KCNQ1-related disorder [RCV004542516] |
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 disorder [RCV004545636] |
Chr11:2679749 [GRCh38]
Chr11:2700979 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4203G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004532213] |
Chr11:2666284 [GRCh38]
Chr11:2687514 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+21709T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004539221] |
Chr11:2610563 [GRCh38]
Chr11:2631793 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9616G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004542610] |
Chr11:2652345 [GRCh38]
Chr11:2673575 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-9510C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539385] |
Chr11:2652451 [GRCh38]
Chr11:2673681 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-13894_1394-13893dup |
duplication |
KCNQ1-related disorder [RCV004539384] |
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 disorder [RCV004542546] |
Chr11:2669063 [GRCh38]
Chr11:2690293 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+36078T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004539397] |
Chr11:2698159 [GRCh38]
Chr11:2719389 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+2636C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004542521] |
Chr11:2664717 [GRCh38]
Chr11:2685947 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-21634C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540893] |
Chr11:2640327 [GRCh38]
Chr11:2661557 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32792C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004544171] |
Chr11:2621646 [GRCh38]
Chr11:2642876 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-515G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004540926] |
Chr11:2661446 [GRCh38]
Chr11:2682676 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4272G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004532088] |
Chr11:2666353 [GRCh38]
Chr11:2687583 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8755G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004540875] |
Chr11:2653206 [GRCh38]
Chr11:2674436 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+23043T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542403] |
Chr11:2685124 [GRCh38]
Chr11:2706354 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4945C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004545536] |
Chr11:2667026 [GRCh38]
Chr11:2688256 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+7029T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004536878] |
Chr11:2669110 [GRCh38]
Chr11:2690340 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+21582A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004532043] |
Chr11:2610436 [GRCh38]
Chr11:2631666 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-34567G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004542605] |
Chr11:2627394 [GRCh38]
Chr11:2648624 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+517C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539445] |
Chr11:2662598 [GRCh38]
Chr11:2683828 [GRCh37]
Chr11:11p15.5 |
likely benign |
| 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.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+16327C>T |
single nucleotide variant |
not provided [RCV003886779] |
Chr11:2678408 [GRCh38]
Chr11:2699638 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+36449C>T |
single nucleotide variant |
not provided [RCV004546396] |
Chr11:2698530 [GRCh38]
Chr11:2719760 [GRCh37]
Chr11:11p15.5 |
likely 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.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+21G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004545562] |
Chr11:2662102 [GRCh38]
Chr11:2683332 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8944G>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004540798] |
Chr11:2653017 [GRCh38]
Chr11:2674247 [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+5789T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004539395] |
Chr11:2667870 [GRCh38]
Chr11:2689100 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+3032C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540832] |
Chr11:2665113 [GRCh38]
Chr11:2686343 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+37221G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004537051] |
Chr11:2699302 [GRCh38]
Chr11:2720532 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-12958_1394-12957del |
deletion |
KCNQ1-related disorder [RCV004540899] |
Chr11:2648982..2648983 [GRCh38]
Chr11:2670212..2670213 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+2565T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004540908] |
Chr11:2664646 [GRCh38]
Chr11:2685876 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+25879A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004539283] |
Chr11:2614733 [GRCh38]
Chr11:2635963 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+23479C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539381] |
Chr11:2685560 [GRCh38]
Chr11:2706790 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+31359_1393+31360insA |
insertion |
KCNQ1-related disorder [RCV004539399] |
Chr11:2620213..2620214 [GRCh38]
Chr11:2641443..2641444 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-27827dup |
duplication |
not provided [RCV004546389] |
Chr11:2634133..2634134 [GRCh38]
Chr11:2655363..2655364 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-30525dup |
duplication |
KCNQ1-related disorder [RCV004539408] |
Chr11:2631426..2631427 [GRCh38]
Chr11:2652656..2652657 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+23631G>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542559] |
Chr11:2612485 [GRCh38]
Chr11:2633715 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+27511T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542594] |
Chr11:2689592 [GRCh38]
Chr11:2710822 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+32343C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540984] |
Chr11:2621197 [GRCh38]
Chr11:2642427 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-5870G>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004534547] |
Chr11:2656091 [GRCh38]
Chr11:2677321 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-3227T>C |
single nucleotide variant |
not provided [RCV004546908] |
Chr11:2658734 [GRCh38]
Chr11:2679964 [GRCh37]
Chr11:11p15.5 |
likely 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+2553T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542570] |
Chr11:2664634 [GRCh38]
Chr11:2685864 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+20395GAGT[13] |
microsatellite |
KCNQ1-related disorder [RCV004534457] |
Chr11:2682475..2682476 [GRCh38]
Chr11:2703705..2703706 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+5130del |
deletion |
KCNQ1-related disorder [RCV004537079] |
Chr11:2667207 [GRCh38]
Chr11:2688437 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+31602C>G |
single nucleotide variant |
not provided [RCV004546401] |
Chr11:2693683 [GRCh38]
Chr11:2714913 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+9589del |
deletion |
KCNQ1-related disorder [RCV004542573] |
Chr11:2671670 [GRCh38]
Chr11:2692900 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-3656A>G |
single nucleotide variant |
not provided [RCV004546387] |
Chr11:2658305 [GRCh38]
Chr11:2679535 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-661A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004539469] |
Chr11:2661300 [GRCh38]
Chr11:2682530 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+18147G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004534647] |
Chr11:2680228 [GRCh38]
Chr11:2701458 [GRCh37]
Chr11:11p15.5 |
likely 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.1514+30767_1514+30768del |
deletion |
KCNQ1-related disorder [RCV004531805] |
Chr11:2692847..2692848 [GRCh38]
Chr11:2714077..2714078 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-36404C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004542588] |
Chr11:2625557 [GRCh38]
Chr11:2646787 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+6788T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004534520] |
Chr11:2668869 [GRCh38]
Chr11:2690099 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+8226G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004542328] |
Chr11:2670307 [GRCh38]
Chr11:2691537 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-29213G>A |
single nucleotide variant |
not provided [RCV003993456] |
Chr11:2632748 [GRCh38]
Chr11:2653978 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-7850C>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004534650] |
Chr11:2654111 [GRCh38]
Chr11:2675341 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-9268G>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539331] |
Chr11:2652693 [GRCh38]
Chr11:2673923 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+24883C>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004539301] |
Chr11:2613737 [GRCh38]
Chr11:2634967 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+22706C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004531876] |
Chr11:2684787 [GRCh38]
Chr11:2706017 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+17117T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004539231] |
Chr11:2679198 [GRCh38]
Chr11:2700428 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4000A>G |
single nucleotide variant |
KCNQ1-related disorder [RCV004539449] |
Chr11:2666081 [GRCh38]
Chr11:2687311 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+16295A>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004539241] |
Chr11:2678376 [GRCh38]
Chr11:2699606 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8623C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004540775] |
Chr11:2653338 [GRCh38]
Chr11:2674568 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+7220T>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004542528] |
Chr11:2669301 [GRCh38]
Chr11:2690531 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+36979T>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004537034] |
Chr11:2699060 [GRCh38]
Chr11:2720290 [GRCh37]
Chr11:11p15.5 |
likely 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.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.1394-32353A>G |
single nucleotide variant |
not provided [RCV003886756] |
Chr11:2629608 [GRCh38]
Chr11:2650838 [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+27378del |
deletion |
not provided [RCV003886767] |
Chr11:2616224 [GRCh38]
Chr11:2637454 [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.1393+30898T>C |
single nucleotide variant |
not provided [RCV004585705] |
Chr11:2619752 [GRCh38]
Chr11:2640982 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1403G>T (p.Ser468Ile) |
single nucleotide variant |
Long QT syndrome [RCV004014333] |
Chr11:2661970 [GRCh38]
Chr11:2683200 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1506C>T (p.His502=) |
single nucleotide variant |
Long QT syndrome [RCV004016081] |
Chr11:2662073 [GRCh38]
Chr11:2683303 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1393+33077_1393+33079del |
microsatellite |
not provided [RCV004546392] |
Chr11:2621926..2621928 [GRCh38]
Chr11:2643156..2643158 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+29127G>T |
single nucleotide variant |
not provided [RCV004585632] |
Chr11:2617981 [GRCh38]
Chr11:2639211 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+2290G>C |
single nucleotide variant |
not provided [RCV004585638] |
Chr11:2664371 [GRCh38]
Chr11:2685601 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+20091C>T |
single nucleotide variant |
not provided [RCV004585666] |
Chr11:2682172 [GRCh38]
Chr11:2703402 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-17223C>T |
single nucleotide variant |
not provided [RCV004585685] |
Chr11:2644738 [GRCh38]
Chr11:2665968 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1500C>T (p.Ile500=) |
single nucleotide variant |
Long QT syndrome [RCV004013428] |
Chr11:2662067 [GRCh38]
Chr11:2683297 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NC_000011.9:g.(?_216698)_(2906719_?)dup |
duplication |
Beckwith-Wiedemann syndrome [RCV004580105] |
Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NC_000011.9:g.(?_2466329)_(2869233_?)dup |
duplication |
Long QT syndrome [RCV004580130] |
Chr11:2466329..2869233 [GRCh37]
Chr11:11p15.5-15.4 |
uncertain significance |
| NC_000011.9:g.(?_2683171)_(2799287_?)dup |
duplication |
Long QT syndrome [RCV004580132] |
Chr11:2683171..2799287 [GRCh37]
Chr11:11p15.5 |
likely pathogenic |
| NM_000218.3(KCNQ1):c.1393+27615G>A |
single nucleotide variant |
not provided [RCV004598870] |
Chr11:2616469 [GRCh38]
Chr11:2637699 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+28197T>C |
single nucleotide variant |
not provided [RCV004598877] |
Chr11:2690278 [GRCh38]
Chr11:2711508 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-10394C>T |
single nucleotide variant |
not provided [RCV004585636] |
Chr11:2651567 [GRCh38]
Chr11:2672797 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+2476G>A |
single nucleotide variant |
not provided [RCV004585637] |
Chr11:2664557 [GRCh38]
Chr11:2685787 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-20249C>T |
single nucleotide variant |
not provided [RCV004585683] |
Chr11:2641712 [GRCh38]
Chr11:2662942 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+105A>C |
single nucleotide variant |
not provided [RCV004585915] |
Chr11:2662186 [GRCh38]
Chr11:2683416 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+616G>A |
single nucleotide variant |
not provided [RCV004575320] |
Chr11:2662697 [GRCh38]
Chr11:2683927 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+5934C>T |
single nucleotide variant |
not provided [RCV004585645] |
Chr11:2668015 [GRCh38]
Chr11:2689245 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+5594G>A |
single nucleotide variant |
not provided [RCV004585649] |
Chr11:2667675 [GRCh38]
Chr11:2688905 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+34238C>T |
single nucleotide variant |
not provided [RCV004585667] |
Chr11:2696319 [GRCh38]
Chr11:2717549 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+17320G>A |
single nucleotide variant |
not provided [RCV004585916] |
Chr11:2679401 [GRCh38]
Chr11:2700631 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+34356T>C |
single nucleotide variant |
not provided [RCV004585238] |
Chr11:2696437 [GRCh38]
Chr11:2717667 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+23060del |
deletion |
not provided [RCV004585634] |
Chr11:2611914 [GRCh38]
Chr11:2633144 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+21918C>G |
single nucleotide variant |
not provided [RCV004585639] |
Chr11:2610772 [GRCh38]
Chr11:2632002 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-12529T>G |
single nucleotide variant |
not provided [RCV004585682] |
Chr11:2649432 [GRCh38]
Chr11:2670662 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-19895C>G |
single nucleotide variant |
not provided [RCV004585684] |
Chr11:2642066 [GRCh38]
Chr11:2663296 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+23728T>C |
single nucleotide variant |
not provided [RCV004598886] |
Chr11:2612582 [GRCh38]
Chr11:2633812 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+32677G>A |
single nucleotide variant |
not provided [RCV004598875] |
Chr11:2694758 [GRCh38]
Chr11:2715988 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1410A>G (p.Thr470=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004626587] |
Chr11:2661977 [GRCh38]
Chr11:2683207 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+29804T>A |
single nucleotide variant |
not provided [RCV004810261] |
Chr11:2618658 [GRCh38]
Chr11:2639888 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+30955G>T |
single nucleotide variant |
not provided [RCV004810262] |
Chr11:2619809 [GRCh38]
Chr11:2641039 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-17346C>T |
single nucleotide variant |
not provided [RCV004810263] |
Chr11:2644615 [GRCh38]
Chr11:2665845 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+10154C>A |
single nucleotide variant |
not provided [RCV004810268] |
Chr11:2672235 [GRCh38]
Chr11:2693465 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-15605T>A |
single nucleotide variant |
not provided [RCV004810271] |
Chr11:2646356 [GRCh38]
Chr11:2667586 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+996G>A |
single nucleotide variant |
not provided [RCV004810274] |
Chr11:2663077 [GRCh38]
Chr11:2684307 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+35175T>C |
single nucleotide variant |
not provided [RCV004810277] |
Chr11:2697256 [GRCh38]
Chr11:2718486 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-13589T>G |
single nucleotide variant |
not provided [RCV004810280] |
Chr11:2648372 [GRCh38]
Chr11:2669602 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-8491_1394-8467del |
deletion |
not provided [RCV004810330] |
Chr11:2653456..2653480 [GRCh38]
Chr11:2674686..2674710 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+25673_1514+25675del |
microsatellite |
not provided [RCV004810336] |
Chr11:2687751..2687753 [GRCh38]
Chr11:2708981..2708983 [GRCh37]
Chr11:11p15.5 |
benign |
| NR_002728.4(KCNQ1OT1):n.30932T>C |
single nucleotide variant |
KCNQ1OT1-related disorder [RCV004756677] |
Chr11:2669063 [GRCh38]
Chr11:2690293 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-1870_1394-1863del |
deletion |
not provided [RCV004810255] |
Chr11:2660090..2660097 [GRCh38]
Chr11:2681320..2681327 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1393+27377_1393+27378dup |
duplication |
not provided [RCV004810257] |
Chr11:2616223..2616224 [GRCh38]
Chr11:2637453..2637454 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+1121A>G |
single nucleotide variant |
not provided [RCV004810289] |
Chr11:2663202 [GRCh38]
Chr11:2684432 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-31769_1394-31768del |
deletion |
not provided [RCV004810295] |
Chr11:2630191..2630192 [GRCh38]
Chr11:2651421..2651422 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+24383A>G |
single nucleotide variant |
not provided [RCV004810297] |
Chr11:2686464 [GRCh38]
Chr11:2707694 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+16452G>A |
single nucleotide variant |
not provided [RCV004810311] |
Chr11:2678533 [GRCh38]
Chr11:2699763 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-29606C>T |
single nucleotide variant |
not provided [RCV004810461] |
Chr11:2632355 [GRCh38]
Chr11:2653585 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1394-14811A>G |
single nucleotide variant |
not provided [RCV004810479] |
Chr11:2647150 [GRCh38]
Chr11:2668380 [GRCh37]
Chr11:11p15.5 |
uncertain significance |
| NM_000218.3(KCNQ1):c.1514+16318C>T |
single nucleotide variant |
not provided [RCV004727240] |
Chr11:2678399 [GRCh38]
Chr11:2699629 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1514+4974G>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004733721] |
Chr11:2667055 [GRCh38]
Chr11:2688285 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-1594C>T |
single nucleotide variant |
not provided [RCV004727247] |
Chr11:2660367 [GRCh38]
Chr11:2681597 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+4306G>A |
single nucleotide variant |
not provided [RCV004727251] |
Chr11:2666387 [GRCh38]
Chr11:2687617 [GRCh37]
Chr11:11p15.5 |
benign |
| NM_000218.3(KCNQ1):c.1394-24784C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004733681] |
Chr11:2637177 [GRCh38]
Chr11:2658407 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-7930G>A |
single nucleotide variant |
KCNQ1-related disorder [RCV004733868] |
Chr11:2654031 [GRCh38]
Chr11:2675261 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+31368_1393+31369del |
deletion |
not provided [RCV004812285] |
Chr11:2620212..2620213 [GRCh38]
Chr11:2641442..2641443 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1514+20431G>C |
single nucleotide variant |
not provided [RCV004812286] |
Chr11:2682512 [GRCh38]
Chr11:2703742 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1393+27598C>T |
single nucleotide variant |
KCNQ1-related disorder [RCV004733920] |
Chr11:2616452 [GRCh38]
Chr11:2637682 [GRCh37]
Chr11:11p15.5 |
likely benign |
| NM_000218.3(KCNQ1):c.1394-32867A>C |
single nucleotide variant |
KCNQ1-related disorder [RCV004733725] |
Chr11:2629094 [GRCh38]
Chr11:2650324 [GRCh37]
Chr11:11p15.5 |
likely benign |
