KCNQ1-AS1 (KCNQ1 antisense RNA 1) - Rat Genome Database

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Gene: KCNQ1-AS1 (KCNQ1 antisense RNA 1) Homo sapiens
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Symbol: KCNQ1-AS1
Name: KCNQ1 antisense RNA 1
RGD ID: 5688621
HGNC Page HGNC:42790
Description: ASSOCIATED WITH Arrhythmia; Beckwith-Wiedemann syndrome; Brugada syndrome; INTERACTS WITH aflatoxin B1; Aflatoxin B2 alpha; benzo[e]pyrene
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38112,840,135 - 2,861,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl112,840,135 - 2,871,662 (-)EnsemblGRCh38hg38GRCh38
GRCh37112,861,365 - 2,882,799 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map11p15.4NCBI
CHM1_1112,860,240 - 2,881,672 (-)NCBICHM1_1
T2T-CHM13v2.0112,929,449 - 2,950,789 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations

Genomics

Variants

.
Variants in KCNQ1-AS1
211 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) single nucleotide variant Atrial fibrillation, familial, 3 [RCV000330439]|Cardiac arrhythmia [RCV001841559]|Cardiovascular phenotype [RCV000245782]|Congenital long QT syndrome [RCV000356002]|Jervell and Lange-Nielsen syndrome 1 [RCV000276443]|Long QT syndrome 1 [RCV001093984]|Long QT syndrome [RCV000389609]|Short QT syndrome type 2 [RCV000275123]|not provided [RCV000757421]|not specified [RCV000035345] Chr11:2847958 [GRCh38]
Chr11:2869188 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) duplication Atrial fibrillation, familial, 3 [RCV002483364]|Cardiac arrhythmia [RCV003591742]|Long QT syndrome [RCV000527526] Chr11:2847874..2847875 [GRCh38]
Chr11:2869104..2869105 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn) single nucleotide variant Cardiac arrhythmia [RCV001841413]|Cardiovascular phenotype [RCV002420315]|Long QT syndrome [RCV001056790]|not provided [RCV000519393] Chr11:2847989 [GRCh38]
Chr11:2869219 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln) duplication Long QT syndrome [RCV000526331] Chr11:2847761..2847762 [GRCh38]
Chr11:2868991..2868992 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1823TCA[1] (p.Ile609del) microsatellite Long QT syndrome [RCV001857945]|not provided [RCV000520401] Chr11:2847795..2847797 [GRCh38]
Chr11:2869025..2869027 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser) single nucleotide variant Cardiac arrhythmia [RCV001842952]|Cardiovascular phenotype [RCV002415864]|Long QT syndrome 1 [RCV000203189]|Long QT syndrome [RCV003765309] Chr11:2847942 [GRCh38]
Chr11:2869172 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) single nucleotide variant Atrial fibrillation, familial, 3 [RCV000763730]|Cardiac arrhythmia [RCV001841679]|Cardiovascular phenotype [RCV003372614]|Long QT syndrome [RCV000471820]|not provided [RCV000057646]|not specified [RCV000484989] Chr11:2847833 [GRCh38]
Chr11:2869063 [GRCh37]
Chr11:11p15.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) single nucleotide variant Cardiac arrhythmia [RCV001842428]|Cardiovascular phenotype [RCV000245982]|KCNQ1-related disorder [RCV004544260]|Long QT syndrome [RCV001085293]|not provided [RCV000200765]|not specified [RCV000126441] Chr11:2847832 [GRCh38]
Chr11:2869062 [GRCh37]
Chr11:11p15.4		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) single nucleotide variant Atrial fibrillation, familial, 3 [RCV001105133]|Cardiac arrhythmia [RCV001842429]|Cardiovascular phenotype [RCV004019719]|Jervell and Lange-Nielsen syndrome 1 [RCV001103215]|Long QT syndrome 1 [RCV001103216]|Long QT syndrome [RCV000631840]|Short QT syndrome type 2 [RCV001105132]|not specified [RCV000126442] Chr11:2847916 [GRCh38]
Chr11:2869146 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) duplication Cardiac arrhythmia [RCV001841642]|Cardiovascular phenotype [RCV000622116]|Congenital long QT syndrome [RCV001195549]|Long QT syndrome 1 [RCV000003284]|Long QT syndrome [RCV000046040]|not provided [RCV000182288] Chr11:2847858..2847859 [GRCh38]
Chr11:2869088..2869089 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) deletion Atrial fibrillation, familial, 3 [RCV002490606]|Cardiac arrhythmia [RCV003591641]|Cardiovascular phenotype [RCV002408547]|Jervell and Lange-Nielsen syndrome 1 [RCV000003285]|KCNQ1-related disorder [RCV004537220]|Long QT syndrome [RCV001386478]|not provided [RCV000182287] Chr11:2847863..2847882 [GRCh38]
Chr11:2869093..2869112 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|not provided
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) single nucleotide variant Atrial fibrillation, familial, 3 [RCV000360577]|Cardiac arrhythmia [RCV001841535]|Cardiovascular phenotype [RCV000620004]|Jervell and Lange-Nielsen syndrome 1 [RCV000359475]|Long QT syndrome 1 [RCV001094060]|Long QT syndrome [RCV000324628]|Short QT syndrome type 2 [RCV000264808]|not provided [RCV000057650]|not specified [RCV000150875] Chr11:2847899 [GRCh38]
Chr11:2869129 [GRCh37]
Chr11:11p15.4		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) single nucleotide variant Atrial fibrillation, familial, 3 [RCV000375847]|Cardiac arrhythmia [RCV001841536]|Cardiovascular phenotype [RCV000622132]|Congenital long QT syndrome [RCV000386352]|Jervell and Lange-Nielsen syndrome 1 [RCV000316585]|Long QT syndrome 1 [RCV001093942]|Long QT syndrome [RCV000229585]|Short QT syndrome type 2 [RCV000281357]|not provided [RCV000057651]|not specified [RCV000216406] Chr11:2847914 [GRCh38]
Chr11:2869144 [GRCh37]
Chr11:11p15.4		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000218.3(KCNQ1):c.1842_1844del (p.His614del) deletion Cardiac arrhythmia [RCV001841639] Chr11:2847812..2847814 [GRCh38]
Chr11:2869042..2869044 [GRCh37]
Chr11:11p15.4		 pathogenic|not provided
NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met) single nucleotide variant Atrial fibrillation, familial, 3 [RCV001106172]|Cardiovascular phenotype [RCV004018945]|Congenital long QT syndrome [RCV000057645]|Jervell and Lange-Nielsen syndrome 1 [RCV001105020]|Long QT syndrome 1 [RCV001106171]|Long QT syndrome [RCV003996474]|Short QT syndrome type 2 [RCV001105021]|not provided [RCV000522648] Chr11:2847827 [GRCh38]
Chr11:2869057 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) single nucleotide variant Cardiac arrhythmia [RCV003591640]|Cardiovascular phenotype [RCV000620378]|Congenital long QT syndrome [RCV000057647]|Long QT syndrome 1 [RCV000755677]|Long QT syndrome [RCV001852972]|not provided [RCV000182325] Chr11:2847848 [GRCh38]
Chr11:2869078 [GRCh37]
Chr11:11p15.4		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) deletion Cardiac arrhythmia [RCV001841640]|Long QT syndrome 1 [RCV000577521] Chr11:2847843..2847860 [GRCh38]
Chr11:2869073..2869090 [GRCh37]
Chr11:11p15.4		 uncertain significance|not provided
NM_000218.3(KCNQ1):c.1888C>G (p.Pro630Ala) single nucleotide variant Congenital long QT syndrome [RCV000057648]|Long QT syndrome [RCV003531944] Chr11:2847860 [GRCh38]
Chr11:2869090 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs) deletion Cardiac arrhythmia [RCV001841641]|Long QT syndrome 1 [RCV004576918]|Long QT syndrome [RCV000046039]|not provided [RCV001787845] Chr11:2847859 [GRCh38]
Chr11:2869089 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|not provided
NM_000218.3(KCNQ1):c.2025dup (p.Ser676fs) duplication Long QT syndrome [RCV001852973]|not provided [RCV000182289] Chr11:2847993..2847994 [GRCh38]
Chr11:2869223..2869224 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) single nucleotide variant Cardiac arrhythmia [RCV001841677]|Cardiovascular phenotype [RCV000242195]|Congenital long QT syndrome [RCV000057641]|KCNQ1-related disorder [RCV004542725]|Long QT syndrome [RCV000148552]|not provided [RCV000859076]|not specified [RCV004700359] Chr11:2847771 [GRCh38]
Chr11:2869001 [GRCh37]
Chr11:11p15.4		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1805T>C (p.Leu602Pro) single nucleotide variant Congenital long QT syndrome [RCV000057642] Chr11:2847777 [GRCh38]
Chr11:2869007 [GRCh37]
Chr11:11p15.4		 pathogenic|not provided
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) single nucleotide variant Cardiac arrhythmia [RCV001841678]|Cardiovascular phenotype [RCV004018995]|Congenital long QT syndrome [RCV000057643]|KCNQ1-related disorder [RCV004732646]|Long QT syndrome 1 [RCV000755676]|Long QT syndrome [RCV000148559]|not provided [RCV000182235]|not specified [RCV000825351] Chr11:2847803 [GRCh38]
Chr11:2869033 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) single nucleotide variant Congenital long QT syndrome [RCV000057644]|Long QT syndrome [RCV002513748] Chr11:2847803 [GRCh38]
Chr11:2869033 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) single nucleotide variant Atrial fibrillation, familial, 3 [RCV001108389]|Atrial fibrillation, familial, 3 [RCV002498333]|Cardiac arrhythmia [RCV001841680]|Cardiovascular phenotype [RCV004018996]|Congenital long QT syndrome [RCV000057649]|Jervell and Lange-Nielsen syndrome 1 [RCV001108388]|Long QT syndrome 1 [RCV001108386]|Long QT syndrome [RCV001238350]|Short QT syndrome type 2 [RCV001108387]|not provided [RCV000767093]|not specified [RCV000182236] Chr11:2847875 [GRCh38]
Chr11:2869105 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000218.3(KCNQ1):c.1795-5C>T single nucleotide variant Cardiac arrhythmia [RCV001842463]|KCNQ1-related disorder [RCV004532674]|Long QT syndrome [RCV003531972]|not specified [RCV000150873] Chr11:2847762 [GRCh38]
Chr11:2868992 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) single nucleotide variant Atrial fibrillation, familial, 3 [RCV001103104]|Cardiac arrhythmia [RCV001842464]|Cardiovascular phenotype [RCV000251316]|Jervell and Lange-Nielsen syndrome 1 [RCV001105014]|Long QT syndrome 1 [RCV001103103]|Long QT syndrome [RCV000205176]|Short QT syndrome type 2 [RCV001105015]|not provided [RCV001675635]|not specified [RCV000150874] Chr11:2847772 [GRCh38]
Chr11:2869002 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(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(chr11:196966-3624139)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
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(chr11:1975511-2888695)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 11p15.5-15.1(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(chr11:1537379-3360769)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(chr11:2521466-2891378)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(chr11:196966-4435344)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(chr11:196966-3377077)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
NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter) single nucleotide variant Long QT syndrome [RCV001225064]|not provided [RCV000182232] Chr11:2847773 [GRCh38]
Chr11:2869003 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu) single nucleotide variant Long QT syndrome [RCV003647759]|not provided [RCV000182233] Chr11:2847783 [GRCh38]
Chr11:2869013 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) single nucleotide variant Cardiac arrhythmia [RCV003591702]|Long QT syndrome [RCV003996712]|not provided [RCV000182234] Chr11:2847801 [GRCh38]
Chr11:2869031 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) single nucleotide variant Cardiac arrhythmia [RCV001842874]|Cardiovascular phenotype [RCV002415772]|Jervell and Lange-Nielsen syndrome 1 [RCV000355003]|KCNQ1-related disorder [RCV000301137]|Long QT syndrome [RCV000539698]|Short QT syndrome type 2 [RCV000259965]|not provided [RCV000767094]|not specified [RCV000455796] Chr11:2847958 [GRCh38]
Chr11:2869188 [GRCh37]
Chr11:11p15.4		 pathogenic|benign|likely benign|uncertain significance
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) single nucleotide variant Cardiac arrhythmia [RCV001842875]|Cardiovascular phenotype [RCV002415773]|Long QT syndrome [RCV001852307]|not provided [RCV000182239] Chr11:2847971 [GRCh38]
Chr11:2869201 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-4G>A single nucleotide variant Cardiac arrhythmia [RCV001842971]|KCNQ1-related disorder [RCV004530297]|Long QT syndrome [RCV000538761]|not specified [RCV000215526] Chr11:2847763 [GRCh38]
Chr11:2868993 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_000218.3(KCNQ1):c.1926C>G (p.Cys642Trp) single nucleotide variant not specified [RCV000219204] Chr11:2847898 [GRCh38]
Chr11:2869128 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) single nucleotide variant Atrial fibrillation, familial, 3 [RCV000309382]|Cardiac arrhythmia [RCV001842987]|Cardiovascular phenotype [RCV000253803]|Jervell and Lange-Nielsen syndrome 1 [RCV000313609]|KCNQ1-related disorder [RCV004532836]|Long QT syndrome 1 [RCV001093997]|Long QT syndrome [RCV000231907]|Short QT syndrome type 2 [RCV000396200]|not provided [RCV000341550]|not specified [RCV002282069] Chr11:2847847 [GRCh38]
Chr11:2869077 [GRCh37]
Chr11:11p15.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000218.3(KCNQ1):c.1836G>A (p.Met612Ile) single nucleotide variant Long QT syndrome [RCV000228919] Chr11:2847808 [GRCh38]
Chr11:2869038 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) single nucleotide variant Cardiac arrhythmia [RCV001842988]|Cardiovascular phenotype [RCV000618387]|Long QT syndrome [RCV000226878]|not provided [RCV001651084] Chr11:2847898 [GRCh38]
Chr11:2869128 [GRCh37]
Chr11:11p15.4		 benign|likely benign
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.*479G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000348924]|Congenital long QT syndrome [RCV000282640]|Jervell and Lange-Nielsen syndrome 1 [RCV000336354]|Long QT syndrome 1 [RCV000278908]|Long QT syndrome [RCV001511444]|Short QT syndrome type 2 [RCV000374654]|not provided [RCV001539784] Chr11:2848482 [GRCh38]
Chr11:2869712 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.*392A>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000283408]|Congenital long QT syndrome [RCV000340741]|Jervell and Lange-Nielsen syndrome 1 [RCV000286912]|Long QT syndrome 1 [RCV000335075]|Short QT syndrome type 2 [RCV000378979] Chr11:2848395 [GRCh38]
Chr11:2869625 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*731G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000405501]|Congenital long QT syndrome [RCV000302652]|Jervell and Lange-Nielsen syndrome 1 [RCV000342383]|Long QT syndrome 1 [RCV000393993]|Short QT syndrome type 2 [RCV000287340]|not provided [RCV002292516] Chr11:2848734 [GRCh38]
Chr11:2869964 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*264T>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000306291]|Congenital long QT syndrome [RCV000363280]|Jervell and Lange-Nielsen syndrome 1 [RCV000302700]|Long QT syndrome 1 [RCV000402708]|Short QT syndrome type 2 [RCV000395954]|not provided [RCV004705219] Chr11:2848267 [GRCh38]
Chr11:2869497 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*975C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV000333689]|Jervell and Lange-Nielsen syndrome 1 [RCV000269305]|Long QT syndrome 1 [RCV000294017]|Short QT syndrome type 2 [RCV000388321]|not provided [RCV001843507] Chr11:2848978 [GRCh38]
Chr11:2870208 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*712G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000325077]|Congenital long QT syndrome [RCV000330457]|Jervell and Lange-Nielsen syndrome 1 [RCV000270086]|Long QT syndrome 1 [RCV000388961]|Short QT syndrome type 2 [RCV000368830] Chr11:2848715 [GRCh38]
Chr11:2869945 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*47A>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000296844]|Congenital long QT syndrome [RCV000286698]|Jervell and Lange-Nielsen syndrome 1 [RCV000403539]|Long QT syndrome 1 [RCV000338318]|Short QT syndrome type 2 [RCV000341725] Chr11:2848050 [GRCh38]
Chr11:2869280 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*581T>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000287989]|Congenital long QT syndrome [RCV000389335]|Jervell and Lange-Nielsen syndrome 1 [RCV000332360]|Long QT syndrome 1 [RCV000345059]|Short QT syndrome type 2 [RCV000293791] Chr11:2848584 [GRCh38]
Chr11:2869814 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*391G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000383406]|Congenital long QT syndrome [RCV000287778]|Jervell and Lange-Nielsen syndrome 1 [RCV000389143]|Long QT syndrome 1 [RCV000332475]|Short QT syndrome type 2 [RCV000326444] Chr11:2848394 [GRCh38]
Chr11:2869624 [GRCh37]
Chr11:11p15.4		 benign|uncertain significance
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) single nucleotide variant Congenital long QT syndrome [RCV000296682]|Familial atrial fibrillation [RCV000288573]|Jervell and Lange-Nielsen syndrome [RCV000403357]|Long QT syndrome [RCV000348188]|Short QT syndrome [RCV000351682] Chr11:2847945 [GRCh38]
Chr11:2869175 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*932A>G single nucleotide variant Atrial fibrillation, familial, 3 [RCV000328317]|Congenital long QT syndrome [RCV000273314]|Jervell and Lange-Nielsen syndrome 1 [RCV000364323]|Long QT syndrome 1 [RCV000303606]|Long QT syndrome [RCV001511446]|Short QT syndrome type 2 [RCV000358658]|not provided [RCV001683226] Chr11:2848935 [GRCh38]
Chr11:2870165 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.*875A>G single nucleotide variant Atrial fibrillation, familial, 3 [RCV000403219]|Congenital long QT syndrome [RCV000291070]|Jervell and Lange-Nielsen syndrome 1 [RCV000376159]|Long QT syndrome 1 [RCV000306710]|Long QT syndrome [RCV001511445]|Short QT syndrome type 2 [RCV000345978]|not provided [RCV001718616] Chr11:2848878 [GRCh38]
Chr11:2870108 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.*742G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000366680]|Congenital long QT syndrome [RCV000406331]|Jervell and Lange-Nielsen syndrome 1 [RCV000308098]|Long QT syndrome 1 [RCV000362814]|Short QT syndrome type 2 [RCV000277571]|not provided [RCV001636870] Chr11:2848745 [GRCh38]
Chr11:2869975 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*1055C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV000309780]|Congenital long QT syndrome [RCV000364434]|Jervell and Lange-Nielsen syndrome 1 [RCV000406293]|Long QT syndrome 1 [RCV000340232]|Short QT syndrome type 2 [RCV000404322] Chr11:2849058 [GRCh38]
Chr11:2870288 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*411C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV000370070]|Congenital long QT syndrome [RCV000363342]|Jervell and Lange-Nielsen syndrome 1 [RCV000277032]|Long QT syndrome 1 [RCV000306365]|Short QT syndrome type 2 [RCV000271020]|not provided [RCV001653495] Chr11:2848414 [GRCh38]
Chr11:2869644 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*877C>G single nucleotide variant Atrial fibrillation, familial, 3 [RCV000312614]|Congenital long QT syndrome [RCV000352219]|Jervell and Lange-Nielsen syndrome 1 [RCV000403975]|Long QT syndrome 1 [RCV000263206]|Short QT syndrome type 2 [RCV000367283] Chr11:2848880 [GRCh38]
Chr11:2870110 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*377del deletion Familial atrial fibrillation [RCV000261614]|Jervell and Lange-Nielsen syndrome [RCV000367323]|Long QT syndrome [RCV000354113]|Short QT syndrome [RCV000319600]|not provided [RCV001731581] Chr11:2848376 [GRCh38]
Chr11:2869606 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*897G>T single nucleotide variant Congenital long QT syndrome [RCV000294638]|Familial atrial fibrillation [RCV000389035]|Jervell and Lange-Nielsen syndrome [RCV000391821]|Long QT syndrome [RCV000300371]|Short QT syndrome [RCV000349594] Chr11:2848900 [GRCh38]
Chr11:2870130 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*305A>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000344423]|Congenital long QT syndrome [RCV000405723]|Jervell and Lange-Nielsen syndrome 1 [RCV000296440]|Long QT syndrome 1 [RCV000290594]|Short QT syndrome type 2 [RCV000347433] Chr11:2848308 [GRCh38]
Chr11:2869538 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*837G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000340166]|Congenital long QT syndrome [RCV000315822]|Jervell and Lange-Nielsen syndrome 1 [RCV000260634]|Long QT syndrome 1 [RCV000285283]|Short QT syndrome type 2 [RCV000379709]|not provided [RCV001778895] Chr11:2848840 [GRCh38]
Chr11:2870070 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*266G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000324733]|Congenital long QT syndrome [RCV000261351]|Jervell and Lange-Nielsen syndrome 1 [RCV000359681]|Long QT syndrome 1 [RCV000353758]|Short QT syndrome type 2 [RCV000267398] Chr11:2848269 [GRCh38]
Chr11:2869499 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*350G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000395384]|Congenital long QT syndrome [RCV000406598]|Jervell and Lange-Nielsen syndrome 1 [RCV000296933]|Long QT syndrome 1 [RCV000303077]|Short QT syndrome type 2 [RCV000360225]|not provided [RCV001843506] Chr11:2848353 [GRCh38]
Chr11:2869583 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*904T>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000361985]|Congenital long QT syndrome [RCV000336717]|Jervell and Lange-Nielsen syndrome 1 [RCV000297878]|Long QT syndrome 1 [RCV000403186]|Short QT syndrome type 2 [RCV000402784] Chr11:2848907 [GRCh38]
Chr11:2870137 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*717T>G single nucleotide variant Atrial fibrillation, familial, 3 [RCV000385301]|Congenital long QT syndrome [RCV000281678]|Jervell and Lange-Nielsen syndrome 1 [RCV000336506]|Long QT syndrome 1 [RCV000294571]|Short QT syndrome type 2 [RCV000330859] Chr11:2848720 [GRCh38]
Chr11:2869950 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*241G>A single nucleotide variant Congenital long QT syndrome [RCV000352721]|Familial atrial fibrillation [RCV000293137]|Jervell and Lange-Nielsen syndrome [RCV000282494]|Long QT syndrome [RCV000337482]|Short QT syndrome [RCV000390650] Chr11:2848244 [GRCh38]
Chr11:2869474 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*464G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000323690]|Congenital long QT syndrome [RCV000380600]|Jervell and Lange-Nielsen syndrome 1 [RCV000266189]|Long QT syndrome 1 [RCV000328448]|Short QT syndrome type 2 [RCV000377131]|not provided [RCV001786358] Chr11:2848467 [GRCh38]
Chr11:2869697 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*1025G>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000281297]|Congenital long QT syndrome [RCV000375635]|Jervell and Lange-Nielsen syndrome 1 [RCV000285348]|Long QT syndrome 1 [RCV000390924]|Short QT syndrome type 2 [RCV000336315] Chr11:2849028 [GRCh38]
Chr11:2870258 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*219G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000320850]|Congenital long QT syndrome [RCV000372179]|Jervell and Lange-Nielsen syndrome 1 [RCV000380329]|Long QT syndrome 1 [RCV000285965]|Short QT syndrome type 2 [RCV000336175]|not provided [RCV001577233] Chr11:2848222 [GRCh38]
Chr11:2869452 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*889AAT[1] microsatellite Congenital long QT syndrome [RCV000264691]|Familial atrial fibrillation [RCV000329144]|Jervell and Lange-Nielsen syndrome [RCV000288902]|Long QT syndrome [RCV000343832]|Short QT syndrome [RCV000383802] Chr11:2848892..2848894 [GRCh38]
Chr11:2870122..2870124 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*1088G>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000331127]|Congenital long QT syndrome [RCV000276077]|Jervell and Lange-Nielsen syndrome 1 [RCV000370686]|Long QT syndrome 1 [RCV000367066]|Short QT syndrome type 2 [RCV000306340] Chr11:2849091 [GRCh38]
Chr11:2870321 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*171G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000265778]|Congenital long QT syndrome [RCV000329096]|Jervell and Lange-Nielsen syndrome 1 [RCV000383761]|Long QT syndrome 1 [RCV000269073]|Short QT syndrome type 2 [RCV000363652] Chr11:2848174 [GRCh38]
Chr11:2869404 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*482G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000352333]|Congenital long QT syndrome [RCV000403746]|Jervell and Lange-Nielsen syndrome 1 [RCV000313831]|Long QT syndrome 1 [RCV000308155]|Short QT syndrome type 2 [RCV000390839]|not provided [RCV001683225] Chr11:2848485 [GRCh38]
Chr11:2869715 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*806C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV000313926]|Congenital long QT syndrome [RCV000319851]|Jervell and Lange-Nielsen syndrome 1 [RCV000374570]|Long QT syndrome 1 [RCV000368716]|Short QT syndrome type 2 [RCV000274123] Chr11:2848809 [GRCh38]
Chr11:2870039 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.*539G>C single nucleotide variant Atrial fibrillation, familial, 3 [RCV000360151]|Congenital long QT syndrome [RCV000267689]|Jervell and Lange-Nielsen syndrome 1 [RCV000303024]|Long QT syndrome 1 [RCV000365278]|Short QT syndrome type 2 [RCV000273039] Chr11:2848542 [GRCh38]
Chr11:2869772 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*887_*889del deletion Congenital long QT syndrome [RCV000268085]|Familial atrial fibrillation [RCV000299683]|Jervell and Lange-Nielsen syndrome [RCV000323257]|Long QT syndrome [RCV000353568]|Short QT syndrome [RCV000377880] Chr11:2848889..2848891 [GRCh38]
Chr11:2870119..2870121 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*633G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000408373]|Congenital long QT syndrome [RCV000304589]|Jervell and Lange-Nielsen syndrome 1 [RCV000291460]|Long QT syndrome 1 [RCV000406053]|Short QT syndrome type 2 [RCV000339402] Chr11:2848636 [GRCh38]
Chr11:2869866 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) single nucleotide variant Congenital long QT syndrome [RCV000339887]|Familial atrial fibrillation [RCV000304914]|Jervell and Lange-Nielsen syndrome [RCV000303797]|Long QT syndrome [RCV000402579]|Short QT syndrome [RCV000394371] Chr11:2847951 [GRCh38]
Chr11:2869181 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*554T>G single nucleotide variant Congenital long QT syndrome [RCV000319098]|Familial atrial fibrillation [RCV000315778]|Jervell and Lange-Nielsen syndrome [RCV000385341]|Long QT syndrome [RCV000261686]|Short QT syndrome [RCV000354165] Chr11:2848557 [GRCh38]
Chr11:2869787 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*292C>A single nucleotide variant Congenital long QT syndrome [RCV000388198]|Familial atrial fibrillation [RCV000375595]|Jervell and Lange-Nielsen syndrome [RCV000318949]|Long QT syndrome [RCV000292799]|Short QT syndrome [RCV000331378] Chr11:2848295 [GRCh38]
Chr11:2869525 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*652G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV000355917]|Congenital long QT syndrome [RCV000395275]|Jervell and Lange-Nielsen syndrome 1 [RCV000361540]|Long QT syndrome 1 [RCV000298806]|Short QT syndrome type 2 [RCV000263552] Chr11:2848655 [GRCh38]
Chr11:2869885 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*398C>T single nucleotide variant Congenital long QT syndrome [RCV000403422]|Familial atrial fibrillation [RCV000313034]|Jervell and Lange-Nielsen syndrome [RCV000300037]|Long QT syndrome [RCV000338558]|Short QT syndrome [RCV000397713] Chr11:2848401 [GRCh38]
Chr11:2869631 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*26C>A single nucleotide variant Congenital long QT syndrome [RCV000326834]|Familial atrial fibrillation [RCV000290090]|Jervell and Lange-Nielsen syndrome [RCV000340465]|Long QT syndrome [RCV000376447]|Short QT syndrome [RCV000384513] Chr11:2848029 [GRCh38]
Chr11:2869259 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*160C>A single nucleotide variant Congenital long QT syndrome [RCV000312544]|Familial atrial fibrillation [RCV000313543]|Jervell and Lange-Nielsen syndrome [RCV000367249]|Long QT syndrome [RCV000397422]|Short QT syndrome [RCV000277228] Chr11:2848163 [GRCh38]
Chr11:2869393 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=) single nucleotide variant Cardiac arrhythmia [RCV001841423]|Cardiovascular phenotype [RCV000617722]|Long QT syndrome [RCV000551513] Chr11:2847874 [GRCh38]
Chr11:2869104 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=) single nucleotide variant Cardiac arrhythmia [RCV001841323]|Long QT syndrome [RCV002062798]|not provided [RCV000428327] Chr11:2847907 [GRCh38]
Chr11:2869137 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=) single nucleotide variant Cardiovascular phenotype [RCV002411325]|Long QT syndrome [RCV003532101]|not specified [RCV000421551] Chr11:2847778 [GRCh38]
Chr11:2869008 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=) single nucleotide variant Cardiac arrhythmia [RCV001841331]|Cardiovascular phenotype [RCV002411396]|Long QT syndrome [RCV002060007]|not specified [RCV000425363] Chr11:2847856 [GRCh38]
Chr11:2869086 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1795-17T>C single nucleotide variant not specified [RCV000419532] Chr11:2847750 [GRCh38]
Chr11:2868980 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs) duplication Long QT syndrome [RCV000459335]|not provided [RCV003126742] Chr11:2847865..2847866 [GRCh38]
Chr11:2869095..2869096 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) single nucleotide variant Atrial fibrillation, familial, 3 [RCV000763731]|Brugada syndrome [RCV000498969]|Cardiac arrhythmia [RCV001841402]|Cardiovascular phenotype [RCV003362801]|Long QT syndrome [RCV001856926]|not provided [RCV001591130]|not specified [RCV001002570] Chr11:2847857 [GRCh38]
Chr11:2869087 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1941C>T (p.Ser647=) single nucleotide variant Cardiovascular phenotype [RCV002413801]|Long QT syndrome [RCV000631761] Chr11:2847913 [GRCh38]
Chr11:2869143 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val) single nucleotide variant Cardiovascular phenotype [RCV000617281] Chr11:2847794 [GRCh38]
Chr11:2869024 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=) single nucleotide variant Cardiovascular phenotype [RCV000618662]|KCNQ1-related disorder [RCV004533276]|Long QT syndrome [RCV001463968] Chr11:2847799 [GRCh38]
Chr11:2869029 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*19G>A single nucleotide variant Long QT syndrome [RCV003318451] Chr11:2848022 [GRCh38]
Chr11:2869252 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1996A>C (p.Thr666Pro) single nucleotide variant Long QT syndrome 1 [RCV000678940]|Long QT syndrome [RCV004807079] Chr11:2847968 [GRCh38]
Chr11:2869198 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=) single nucleotide variant Cardiac arrhythmia [RCV003591777]|Cardiovascular phenotype [RCV002406677]|Long QT syndrome [RCV001466223]|not provided [RCV000756286] Chr11:2847823 [GRCh38]
Chr11:2869053 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) single nucleotide variant Atrial fibrillation, familial, 3 [RCV001105019]|Cardiac arrhythmia [RCV001842570]|Cardiovascular phenotype [RCV004029517]|Jervell and Lange-Nielsen syndrome 1 [RCV001105017]|Long QT syndrome 1 [RCV001105018]|Long QT syndrome [RCV000926516]|Short QT syndrome type 2 [RCV001105016] Chr11:2847802 [GRCh38]
Chr11:2869032 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.1923del (p.Cys642fs) deletion not specified [RCV000825356] Chr11:2847893 [GRCh38]
Chr11:2869123 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser) single nucleotide variant Long QT syndrome [RCV001858386]|not specified [RCV000825357] Chr11:2847860 [GRCh38]
Chr11:2869090 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=) single nucleotide variant Cardiac arrhythmia [RCV003591796]|Long QT syndrome [RCV001447894] Chr11:2847847 [GRCh38]
Chr11:2869077 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=) single nucleotide variant Cardiac arrhythmia [RCV003591806]|Cardiovascular phenotype [RCV002409185]|Long QT syndrome [RCV002065991] Chr11:2847910 [GRCh38]
Chr11:2869140 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2011G>A (p.Gly671Ser) single nucleotide variant Cardiac arrhythmia [RCV001841930] Chr11:2847983 [GRCh38]
Chr11:2869213 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=) single nucleotide variant Cardiac arrhythmia [RCV001842011]|Cardiovascular phenotype [RCV002409002]|Long QT syndrome [RCV001427324]|not provided [RCV000827931] Chr11:2847910 [GRCh38]
Chr11:2869140 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1795-298A>G single nucleotide variant not provided [RCV000840786] Chr11:2847469 [GRCh38]
Chr11:2868699 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.1795-119T>C single nucleotide variant not provided [RCV000831114] Chr11:2847648 [GRCh38]
Chr11:2868878 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del deletion Long QT syndrome 1 [RCV000790439] Chr11:2768843..2778038 [GRCh38]
Chr11:2790073..2799268 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp) single nucleotide variant Cardiovascular phenotype [RCV002414943] Chr11:2847834 [GRCh38]
Chr11:2869064 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser) single nucleotide variant Atrial fibrillation, familial, 3 [RCV002491830]|Long QT syndrome [RCV001246243]|not provided [RCV003235512] Chr11:2847836 [GRCh38]
Chr11:2869066 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys) single nucleotide variant Cardiac arrhythmia [RCV001843189]|Long QT syndrome [RCV003532886] Chr11:2847981 [GRCh38]
Chr11:2869211 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*7del deletion Cardiac arrhythmia [RCV003591882]|not provided [RCV001555468] Chr11:2848007 [GRCh38]
Chr11:2869237 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=) single nucleotide variant Cardiac arrhythmia [RCV001842536]|Cardiovascular phenotype [RCV002416032]|Long QT syndrome [RCV001459450] Chr11:2847988 [GRCh38]
Chr11:2869218 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=) single nucleotide variant Cardiac arrhythmia [RCV001842019]|Cardiovascular phenotype [RCV002409012]|Long QT syndrome [RCV000861141] Chr11:2847853 [GRCh38]
Chr11:2869083 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe) single nucleotide variant Cardiac arrhythmia [RCV001843257]|Long QT syndrome 1 [RCV004789441]|Long QT syndrome [RCV002559916] Chr11:2847897 [GRCh38]
Chr11:2869127 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1951G>A (p.Glu651Lys) single nucleotide variant Cardiac arrhythmia [RCV001843047] Chr11:2847923 [GRCh38]
Chr11:2869153 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=) single nucleotide variant Cardiac arrhythmia [RCV001840972]|Long QT syndrome [RCV001410312] Chr11:2847970 [GRCh38]
Chr11:2869200 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*4G>A single nucleotide variant Cardiac arrhythmia [RCV001842625]|KCNQ1-related disorder [RCV004538398] Chr11:2848007 [GRCh38]
Chr11:2869237 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.1795G>T (p.Val599Leu) single nucleotide variant Cardiac arrhythmia [RCV001843170] Chr11:2847767 [GRCh38]
Chr11:2868997 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) single nucleotide variant Atrial fibrillation, familial, 3 [RCV003227924]|Cardiac arrhythmia [RCV001843174]|Long QT syndrome [RCV001876106] Chr11:2847896 [GRCh38]
Chr11:2869126 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1919A>T (p.Gln640Leu) single nucleotide variant Cardiac arrhythmia [RCV001841064] Chr11:2847891 [GRCh38]
Chr11:2869121 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1926C>A (p.Cys642Ter) single nucleotide variant Cardiac arrhythmia [RCV001843216] Chr11:2847898 [GRCh38]
Chr11:2869128 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-10G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV002497619]|Cardiac arrhythmia [RCV001842676]|Long QT syndrome [RCV001497887] Chr11:2847757 [GRCh38]
Chr11:2868987 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*295G>A single nucleotide variant Atrial fibrillation, familial, 3 [RCV001108562]|Jervell and Lange-Nielsen syndrome 1 [RCV001108563]|Long QT syndrome 1 [RCV001108561]|Short QT syndrome type 2 [RCV001108560] Chr11:2848298 [GRCh38]
Chr11:2869528 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg) single nucleotide variant Cardiac arrhythmia [RCV001843080]|Cardiovascular phenotype [RCV002411684]|Long QT syndrome [RCV002560809]|not provided [RCV001751321] Chr11:2847864 [GRCh38]
Chr11:2869094 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2007G>C (p.Arg669Ser) single nucleotide variant Cardiac arrhythmia [RCV001843286]|Long QT syndrome [RCV004008594] Chr11:2847979 [GRCh38]
Chr11:2869209 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-6C>T single nucleotide variant Cardiac arrhythmia [RCV001843290]|Long QT syndrome [RCV002559936] Chr11:2847761 [GRCh38]
Chr11:2868991 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) single nucleotide variant Atrial fibrillation, familial, 3 [RCV002480612]|Cardiac arrhythmia [RCV001843225]|Cardiovascular phenotype [RCV002411701]|Long QT syndrome [RCV001360633]|Polymorphic ventricular tachycardia [RCV003163439] Chr11:2847876 [GRCh38]
Chr11:2869106 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs) duplication Cardiac arrhythmia [RCV001841181]|Long QT syndrome [RCV001212928]|not provided [RCV001751353] Chr11:2847780..2847781 [GRCh38]
Chr11:2869010..2869011 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|uncertain significance
NM_000218.3(KCNQ1):c.1942G>T (p.Val648Phe) single nucleotide variant Long QT syndrome [RCV004806721] Chr11:2847914 [GRCh38]
Chr11:2869144 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2027C>G (p.Ser676Cys) single nucleotide variant Long QT syndrome [RCV004806726] Chr11:2847999 [GRCh38]
Chr11:2869229 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-249A>G single nucleotide variant not provided [RCV001689421] Chr11:2847518 [GRCh38]
Chr11:2868748 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.1942G>C (p.Val648Leu) single nucleotide variant not provided [RCV001658567] Chr11:2847914 [GRCh38]
Chr11:2869144 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.*6G>A single nucleotide variant Cardiac arrhythmia [RCV001842724] Chr11:2848009 [GRCh38]
Chr11:2869239 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=) single nucleotide variant Cardiac arrhythmia [RCV001843276]|Long QT syndrome [RCV002559924] Chr11:2847856 [GRCh38]
Chr11:2869086 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*290A>G single nucleotide variant Atrial fibrillation, familial, 3 [RCV001106349]|Jervell and Lange-Nielsen syndrome 1 [RCV001106351]|Long QT syndrome 1 [RCV001106348]|Short QT syndrome type 2 [RCV001106350] Chr11:2848293 [GRCh38]
Chr11:2869523 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp) single nucleotide variant Cardiac arrhythmia [RCV001843206] Chr11:2847900 [GRCh38]
Chr11:2869130 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*81C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV001108487]|Jervell and Lange-Nielsen syndrome 1 [RCV001108486]|Long QT syndrome 1 [RCV001108484]|Short QT syndrome type 2 [RCV001108485] Chr11:2848084 [GRCh38]
Chr11:2869314 [GRCh37]
Chr11:11p15.4		 benign|uncertain significance
NM_000218.3(KCNQ1):c.*125C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV001108490]|Jervell and Lange-Nielsen syndrome 1 [RCV001108489]|Long QT syndrome 1 [RCV001108491]|Short QT syndrome type 2 [RCV001108488] Chr11:2848128 [GRCh38]
Chr11:2869358 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*730C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV001108721]|Jervell and Lange-Nielsen syndrome 1 [RCV001108719]|Long QT syndrome 1 [RCV001108718]|Short QT syndrome type 2 [RCV001108720] Chr11:2848733 [GRCh38]
Chr11:2869963 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) single nucleotide variant Atrial fibrillation, familial, 3 [RCV002484042]|Cardiac arrhythmia [RCV001841126]|Cardiovascular phenotype [RCV002411719]|Long QT syndrome [RCV001228890] Chr11:2847908 [GRCh38]
Chr11:2869138 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000218.3(KCNQ1):c.1968C>T (p.Ser656=) single nucleotide variant Cardiac arrhythmia [RCV001842767] Chr11:2847940 [GRCh38]
Chr11:2869170 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn) single nucleotide variant Cardiac arrhythmia [RCV001840994]|Long QT syndrome [RCV001315852]|not specified [RCV001824929] Chr11:2847917 [GRCh38]
Chr11:2869147 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_000218.3(KCNQ1):c.*632C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV001103473]|Jervell and Lange-Nielsen syndrome 1 [RCV001103475]|Long QT syndrome 1 [RCV001103472]|Short QT syndrome type 2 [RCV001103474] Chr11:2848635 [GRCh38]
Chr11:2869865 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_000218.3(KCNQ1):c.1837C>T (p.Leu613Phe) single nucleotide variant Cardiac arrhythmia [RCV001842647] Chr11:2847809 [GRCh38]
Chr11:2869039 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*240C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV001105210]|Jervell and Lange-Nielsen syndrome 1 [RCV001105211]|Long QT syndrome 1 [RCV001105209]|Short QT syndrome type 2 [RCV001105212] Chr11:2848243 [GRCh38]
Chr11:2869473 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1892C>A (p.Pro631His) single nucleotide variant Cardiac arrhythmia [RCV001843098] Chr11:2847864 [GRCh38]
Chr11:2869094 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys) single nucleotide variant Atrial fibrillation, familial, 3 [RCV001106174]|Jervell and Lange-Nielsen syndrome 1 [RCV001108384]|Long QT syndrome 1 [RCV001106173]|Long QT syndrome [RCV004807307]|Short QT syndrome type 2 [RCV001108385] Chr11:2847867 [GRCh38]
Chr11:2869097 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.*66C>T single nucleotide variant Atrial fibrillation, familial, 3 [RCV001106256]|Jervell and Lange-Nielsen syndrome 1 [RCV001106257]|Long QT syndrome 1 [RCV001106255]|Short QT syndrome type 2 [RCV001106258] Chr11:2848069 [GRCh38]
Chr11:2869299 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1809C>A (p.Asp603Glu) single nucleotide variant Long QT syndrome [RCV001042935] Chr11:2847781 [GRCh38]
Chr11:2869011 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) single nucleotide variant Cardiac arrhythmia [RCV003591850]|Cardiovascular phenotype [RCV003166588]|Long QT syndrome 1 [RCV001258176]|Long QT syndrome 1 [RCV003127738]|Long QT syndrome [RCV004004930]|not provided [RCV004692363]|not specified [RCV004699241] Chr11:2847854 [GRCh38]
Chr11:2869084 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2007G>A (p.Arg669=) single nucleotide variant Long QT syndrome [RCV004806723] Chr11:2847979 [GRCh38]
Chr11:2869209 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1838T>C (p.Leu613Pro) single nucleotide variant Long QT syndrome [RCV001300208] Chr11:2847810 [GRCh38]
Chr11:2869040 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1998C>G (p.Thr666=) single nucleotide variant Long QT syndrome [RCV001414535] Chr11:2847970 [GRCh38]
Chr11:2869200 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2018A>T (p.Asp673Val) single nucleotide variant Long QT syndrome [RCV004806725] Chr11:2847990 [GRCh38]
Chr11:2869220 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2017G>C (p.Asp673His) single nucleotide variant Long QT syndrome [RCV004806724] Chr11:2847989 [GRCh38]
Chr11:2869219 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1909C>G (p.His637Asp) single nucleotide variant Long QT syndrome [RCV004806720] Chr11:2847881 [GRCh38]
Chr11:2869111 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1906G>A (p.Ala636Thr) single nucleotide variant Long QT syndrome [RCV004806719] Chr11:2847878 [GRCh38]
Chr11:2869108 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1873C>G (p.Pro625Ala) single nucleotide variant Long QT syndrome [RCV004806716] Chr11:2847845 [GRCh38]
Chr11:2869075 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1832A>G (p.Asp611Gly) single nucleotide variant Long QT syndrome [RCV004806715] Chr11:2847804 [GRCh38]
Chr11:2869034 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=) single nucleotide variant Cardiovascular phenotype [RCV002414177]|Long QT syndrome [RCV001485470] Chr11:2847859 [GRCh38]
Chr11:2869089 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys) single nucleotide variant Cardiac arrhythmia [RCV001842147]|Long QT syndrome [RCV002568119] Chr11:2847992 [GRCh38]
Chr11:2869222 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1975C>T (p.Leu659=) single nucleotide variant Long QT syndrome [RCV001445426] Chr11:2847947 [GRCh38]
Chr11:2869177 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1795-129G>A single nucleotide variant not provided [RCV001610274] Chr11:2847638 [GRCh38]
Chr11:2868868 [GRCh37]
Chr11:11p15.4		 benign
NM_000218.3(KCNQ1):c.1995G>T (p.Leu665=) single nucleotide variant Long QT syndrome [RCV001484871] Chr11:2847967 [GRCh38]
Chr11:2869197 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1911C>T (p.His637=) single nucleotide variant Cardiac arrhythmia [RCV001842123]|Long QT syndrome [RCV003533006] Chr11:2847883 [GRCh38]
Chr11:2869113 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2028C>T (p.Ser676=) single nucleotide variant Cardiac arrhythmia [RCV001842129] Chr11:2848000 [GRCh38]
Chr11:2869230 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=) single nucleotide variant Cardiac arrhythmia [RCV001842041]|Cardiovascular phenotype [RCV002414110]|Long QT syndrome [RCV001461631]|not specified [RCV002222711] Chr11:2847877 [GRCh38]
Chr11:2869107 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.*2G>T single nucleotide variant Cardiac arrhythmia [RCV001842076] Chr11:2848005 [GRCh38]
Chr11:2869235 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=) single nucleotide variant Cardiac arrhythmia [RCV001842053]|Long QT syndrome [RCV001501108] Chr11:2847932 [GRCh38]
Chr11:2869162 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1870A>G (p.Thr624Ala) single nucleotide variant Long QT syndrome [RCV002032761]|not provided [RCV001756412] Chr11:2847842 [GRCh38]
Chr11:2869072 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs) duplication Long QT syndrome [RCV002032853]|not provided [RCV001770709] Chr11:2847842..2847843 [GRCh38]
Chr11:2869072..2869073 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|uncertain significance
NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly) duplication Cardiac arrhythmia [RCV001842219] Chr11:2847831..2847832 [GRCh38]
Chr11:2869061..2869062 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp) single nucleotide variant Cardiac arrhythmia [RCV001842224] Chr11:2847830 [GRCh38]
Chr11:2869060 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1949del (p.Pro650fs) deletion Long QT syndrome [RCV001872955] Chr11:2847919 [GRCh38]
Chr11:2869149 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-2A>G single nucleotide variant Cardiovascular phenotype [RCV002405229]|Jervell and Lange-Nielsen syndrome 1 [RCV001822884]|Long QT syndrome [RCV002568952] Chr11:2847765 [GRCh38]
Chr11:2868995 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|uncertain significance
NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser) single nucleotide variant Cardiac arrhythmia [RCV003591902]|Long QT syndrome [RCV001926405] Chr11:2847950 [GRCh38]
Chr11:2869180 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2013_*7dup (p.Arg669_Ter677=) duplication Long QT syndrome [RCV001891872] Chr11:2847976..2847977 [GRCh38]
Chr11:2869206..2869207 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1967_1981dup (p.Pro660_Thr661insSerAsnThrLeuPro) duplication Long QT syndrome [RCV004806722] Chr11:2847930..2847931 [GRCh38]
Chr11:2869160..2869161 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1877G>C (p.Gly626Ala) single nucleotide variant Long QT syndrome [RCV004806717] Chr11:2847849 [GRCh38]
Chr11:2869079 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1886G>T (p.Gly629Val) single nucleotide variant Long QT syndrome [RCV001879179] Chr11:2847858 [GRCh38]
Chr11:2869088 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1844A>G (p.Gln615Arg) single nucleotide variant Long QT syndrome [RCV001866838] Chr11:2847816 [GRCh38]
Chr11:2869046 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2013_*7del (p.Pro672fs) deletion Long QT syndrome [RCV001881395] Chr11:2847977..2848002 [GRCh38]
Chr11:2869207..2869232 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1936G>T (p.Gly646Cys) single nucleotide variant Long QT syndrome [RCV001936759] Chr11:2847908 [GRCh38]
Chr11:2869138 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1977G>T (p.Leu659=) single nucleotide variant Long QT syndrome [RCV002186723] Chr11:2847949 [GRCh38]
Chr11:2869179 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1795-20G>A single nucleotide variant Long QT syndrome [RCV002183232] Chr11:2847747 [GRCh38]
Chr11:2868977 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1952A>C (p.Glu651Ala) single nucleotide variant Long QT syndrome [RCV003118847] Chr11:2847924 [GRCh38]
Chr11:2869154 [GRCh37]
Chr11:11p15.4		 uncertain significance
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.1956C>T (p.Leu652=) single nucleotide variant Cardiac arrhythmia [RCV003591957]|Cardiovascular phenotype [RCV002421622]|Long QT syndrome [RCV003097387] Chr11:2847928 [GRCh38]
Chr11:2869158 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2030G>A (p.Ter677=) single nucleotide variant Cardiovascular phenotype [RCV002419787]|Long QT syndrome [RCV003647928] Chr11:2848002 [GRCh38]
Chr11:2869232 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2023G>A (p.Gly675Arg) single nucleotide variant Cardiovascular phenotype [RCV002419638] Chr11:2847995 [GRCh38]
Chr11:2869225 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2022G>A (p.Glu674=) single nucleotide variant Cardiovascular phenotype [RCV002419620]|Long QT syndrome [RCV003101017] Chr11:2847994 [GRCh38]
Chr11:2869224 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2019T>A (p.Asp673Glu) single nucleotide variant not provided [RCV002283190] Chr11:2847991 [GRCh38]
Chr11:2869221 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=) single nucleotide variant Cardiac arrhythmia [RCV003591956]|Cardiovascular phenotype [RCV002412938]|Long QT syndrome [RCV004007372] Chr11:2847818 [GRCh38]
Chr11:2869048 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1908C>G (p.Ala636=) single nucleotide variant Cardiovascular phenotype [RCV002408388] Chr11:2847880 [GRCh38]
Chr11:2869110 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys) single nucleotide variant Cardiovascular phenotype [RCV002423763]|Long QT syndrome [RCV003533248] Chr11:2847959 [GRCh38]
Chr11:2869189 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn) single nucleotide variant Cardiovascular phenotype [RCV002410448]|Long QT syndrome [RCV003097280] Chr11:2847798 [GRCh38]
Chr11:2869028 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1990C>T (p.Gln664Ter) single nucleotide variant Cardiovascular phenotype [RCV002423840] Chr11:2847962 [GRCh38]
Chr11:2869192 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu) single nucleotide variant Cardiovascular phenotype [RCV002412854] Chr11:2847813 [GRCh38]
Chr11:2869043 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1922C>T (p.Pro641Leu) single nucleotide variant Cardiovascular phenotype [RCV002410742]|Long QT syndrome [RCV004007378] Chr11:2847894 [GRCh38]
Chr11:2869124 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1923C>T (p.Pro641=) single nucleotide variant Cardiovascular phenotype [RCV002410760]|Long QT syndrome [RCV003647925] Chr11:2847895 [GRCh38]
Chr11:2869125 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1845G>T (p.Gln615His) single nucleotide variant Long QT syndrome [RCV002302399] Chr11:2847817 [GRCh38]
Chr11:2869047 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-5C>A single nucleotide variant Long QT syndrome [RCV002968119] Chr11:2847762 [GRCh38]
Chr11:2868992 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=) single nucleotide variant Cardiovascular phenotype [RCV003367977]|Long QT syndrome [RCV003081480] Chr11:2847934 [GRCh38]
Chr11:2869164 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_000218.3(KCNQ1):c.2012G>A (p.Gly671Asp) single nucleotide variant Long QT syndrome [RCV002756870] Chr11:2847984 [GRCh38]
Chr11:2869214 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1893C>A (p.Pro631=) single nucleotide variant Long QT syndrome [RCV002638205] Chr11:2847865 [GRCh38]
Chr11:2869095 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1872C>T (p.Thr624=) single nucleotide variant Long QT syndrome [RCV002872322] Chr11:2847844 [GRCh38]
Chr11:2869074 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1888C>A (p.Pro630Thr) single nucleotide variant Long QT syndrome [RCV002601570] Chr11:2847860 [GRCh38]
Chr11:2869090 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=) single nucleotide variant Cardiovascular phenotype [RCV003161857]|Long QT syndrome [RCV002598788] Chr11:2847829 [GRCh38]
Chr11:2869059 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1989G>A (p.Glu663=) single nucleotide variant Long QT syndrome [RCV002833686] Chr11:2847961 [GRCh38]
Chr11:2869191 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1817T>A (p.Leu606Gln) single nucleotide variant Long QT syndrome [RCV003009763] Chr11:2847789 [GRCh38]
Chr11:2869019 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1854C>T (p.Ser618=) single nucleotide variant Long QT syndrome [RCV002610100] Chr11:2847826 [GRCh38]
Chr11:2869056 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1849C>T (p.Leu617Phe) single nucleotide variant Long QT syndrome [RCV003092383]|not provided [RCV004790365] Chr11:2847821 [GRCh38]
Chr11:2869051 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1962G>A (p.Leu654=) single nucleotide variant Cardiovascular phenotype [RCV003278564]|Long QT syndrome [RCV004009723] Chr11:2847934 [GRCh38]
Chr11:2869164 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser) single nucleotide variant Cardiovascular phenotype [RCV003360858] Chr11:2847791 [GRCh38]
Chr11:2869021 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1916C>T (p.Thr639Ile) single nucleotide variant Cardiac arrhythmia [RCV003592311] Chr11:2847888 [GRCh38]
Chr11:2869118 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1830C>G (p.Thr610=) single nucleotide variant Long QT syndrome [RCV003648957] Chr11:2847802 [GRCh38]
Chr11:2869032 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1867A>G (p.Ser623Gly) single nucleotide variant Long QT syndrome [RCV003648464] Chr11:2847839 [GRCh38]
Chr11:2869069 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile) single nucleotide variant Cardiac arrhythmia [RCV003592310]|Long QT syndrome [RCV003779315]|not provided [RCV004721208] Chr11:2847843 [GRCh38]
Chr11:2869073 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1947C>A (p.Asp649Glu) single nucleotide variant Long QT syndrome [RCV003880004] Chr11:2847919 [GRCh38]
Chr11:2869149 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2014C>G (p.Pro672Ala) single nucleotide variant Long QT syndrome [RCV003647307] Chr11:2847986 [GRCh38]
Chr11:2869216 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2021A>T (p.Glu674Val) single nucleotide variant Long QT syndrome [RCV003647707] Chr11:2847993 [GRCh38]
Chr11:2869223 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1876G>C (p.Gly626Arg) single nucleotide variant Long QT syndrome [RCV003648535] Chr11:2847848 [GRCh38]
Chr11:2869078 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795G>C (p.Val599Leu) single nucleotide variant Long QT syndrome [RCV003534080] Chr11:2847767 [GRCh38]
Chr11:2868997 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1839T>A (p.Leu613=) single nucleotide variant Long QT syndrome [RCV003832398] Chr11:2847811 [GRCh38]
Chr11:2869041 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1795-3C>T single nucleotide variant Long QT syndrome [RCV003532529] Chr11:2847764 [GRCh38]
Chr11:2868994 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1877G>T (p.Gly626Val) single nucleotide variant Long QT syndrome [RCV003833208] Chr11:2847849 [GRCh38]
Chr11:2869079 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1795-14C>G single nucleotide variant Long QT syndrome [RCV003865259] Chr11:2847753 [GRCh38]
Chr11:2868983 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_000218.3(KCNQ1):c.2021A>G (p.Glu674Gly) single nucleotide variant Long QT syndrome [RCV003818661] Chr11:2847993 [GRCh38]
Chr11:2869223 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1818G>A (p.Leu606=) single nucleotide variant Cardiovascular phenotype [RCV004520786] Chr11:2847790 [GRCh38]
Chr11:2869020 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1959C>A (p.Phe653Leu) single nucleotide variant Cardiovascular phenotype [RCV004520787] Chr11:2847931 [GRCh38]
Chr11:2869161 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa) deletion Atrial fibrillation, familial, 3 [RCV004555152] Chr11:2847777..2848139 [GRCh38]
Chr11:2869007..2869369 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_000218.3(KCNQ1):c.1795-14C>A single nucleotide variant Long QT syndrome [RCV004011881] Chr11:2847753 [GRCh38]
Chr11:2868983 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1965C>T (p.Pro655=) single nucleotide variant Cardiovascular phenotype [RCV004520788] Chr11:2847937 [GRCh38]
Chr11:2869167 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1868G>T (p.Ser623Ile) single nucleotide variant Long QT syndrome [RCV004012507] Chr11:2847840 [GRCh38]
Chr11:2869070 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1819G>A (p.Ala607Thr) single nucleotide variant Long QT syndrome [RCV004012525] Chr11:2847791 [GRCh38]
Chr11:2869021 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1944C>G (p.Val648=) single nucleotide variant Long QT syndrome [RCV004012817] Chr11:2847916 [GRCh38]
Chr11:2869146 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.2010G>A (p.Arg670=) single nucleotide variant Long QT syndrome [RCV004013350] Chr11:2847982 [GRCh38]
Chr11:2869212 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1946A>G (p.Asp649Gly) single nucleotide variant Long QT syndrome [RCV004015781] Chr11:2847918 [GRCh38]
Chr11:2869148 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2028_*9del (p.Ter677GlyextTer?) deletion Long QT syndrome [RCV004016872] Chr11:2848000..2848012 [GRCh38]
Chr11:2869230..2869242 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1892C>T (p.Pro631Leu) single nucleotide variant Long QT syndrome [RCV004015866] Chr11:2847864 [GRCh38]
Chr11:2869094 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1822C>T (p.Leu608Phe) single nucleotide variant Long QT syndrome [RCV004015730] Chr11:2847794 [GRCh38]
Chr11:2869024 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1844A>C (p.Gln615Pro) single nucleotide variant Long QT syndrome [RCV004012960] Chr11:2847816 [GRCh38]
Chr11:2869046 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1856T>C (p.Leu619Ser) single nucleotide variant Long QT syndrome [RCV004015486] Chr11:2847828 [GRCh38]
Chr11:2869058 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1896A>G (p.Arg632=) single nucleotide variant Long QT syndrome [RCV004016422] Chr11:2847868 [GRCh38]
Chr11:2869098 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1891C>G (p.Pro631Ala) single nucleotide variant Long QT syndrome [RCV004015521] Chr11:2847863 [GRCh38]
Chr11:2869093 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1810C>G (p.Gln604Glu) single nucleotide variant Long QT syndrome [RCV004016245] Chr11:2847782 [GRCh38]
Chr11:2869012 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.2013C>G (p.Gly671=) single nucleotide variant Long QT syndrome [RCV004016416] Chr11:2847985 [GRCh38]
Chr11:2869215 [GRCh37]
Chr11:11p15.4		 likely benign
NM_000218.3(KCNQ1):c.1871C>A (p.Thr624Asn) single nucleotide variant Cardiovascular phenotype [RCV004628230] Chr11:2847843 [GRCh38]
Chr11:2869073 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_000218.3(KCNQ1):c.1885G>C (p.Gly629Arg) single nucleotide variant not provided [RCV004701998] Chr11:2847857 [GRCh38]
Chr11:2869087 [GRCh37]
Chr11:11p15.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:278
Count of miRNA genes:255
Interacting mature miRNAs:278
Transcripts:ENST00000440887
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1076 1534 1780 1370 2597 1249 1512 1 225 662 115 1407 3820 3874 14 2011 502 1331 1218 111

Sequence


Ensembl Acc Id: ENST00000440887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,135 - 2,861,568 (-)Ensembl
Ensembl Acc Id: ENST00000737299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,135 - 2,871,662 (-)Ensembl
Ensembl Acc Id: ENST00000737300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,135 - 2,871,199 (-)Ensembl
Ensembl Acc Id: ENST00000737301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,135 - 2,871,022 (-)Ensembl
Ensembl Acc Id: ENST00000737302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,143 - 2,870,988 (-)Ensembl
Ensembl Acc Id: ENST00000737303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,143 - 2,870,654 (-)Ensembl
Ensembl Acc Id: ENST00000737304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,840,143 - 2,846,222 (-)Ensembl
Ensembl Acc Id: ENST00000737305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,860,981 - 2,861,512 (-)Ensembl
RefSeq Acc Id: NR_130721
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,840,135 - 2,861,569 (-)NCBI
CHM1_1112,860,240 - 2,881,672 (-)NCBI
T2T-CHM13v2.0112,929,449 - 2,950,789 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC KCNQ1-AS1 COSMIC
Ensembl Genes ENSG00000229414 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000440887 ENTREZGENE
GTEx ENSG00000229414 GTEx
HGNC ID HGNC:42790 ENTREZGENE
Human Proteome Map KCNQ1-AS1 Human Proteome Map
NCBI Gene KCNQ1-AS1 ENTREZGENE
RNAcentral URS00001D6752 RNACentral
  URS00007E3B28 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 KCNQ1-AS1  KCNQ1 antisense RNA 1  KCNQ1-AS1  KCNQ1 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED