NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)Likely pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 1|Cardiac arrhythmia|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|KCNQ1-related disorder|Cardiovascular phenotype
β
β
β
β2025β Residue 225
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)Likely pathogenic
Long QT syndrome 1|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome
β
β
β
β2025β Residue 273
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)Pathogenic
Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Cardiac arrhythmia
β
β
β
β2025β Residue 589
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)Likely pathogenic
Long QT syndrome 1, recessive|Long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 1|Congenital long QT syndrome|KCNQ1-related disorder|not specified|Cardiac arrhythmia|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Monogenic hearing loss
β
β
β
β2025β Residue 518
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)Pathogenic
Long QT syndrome 1|Long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 2|Beckwith-Wiedemann syndrome|Congenital long QT syndrome
β
β
β
β2025β Residue 344
NM_000218.3(KCNQ1):c.477+1G>ALikely pathogenic
not provided|Long QT syndrome|Long QT syndrome 1|Congenital long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype
β
β
β
β2025
NM_000218.3(KCNQ1):c.477+5G>ALikely pathogenic
Long QT syndrome|not provided|Congenital long QT syndrome|Long QT syndrome 1|Cardiac arrhythmia|Cardiovascular phenotype|Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome
β
β
β
β2025
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)Pathogenic
Long QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome
β
β
β
β2025β Residue 254
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)Likely pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 1|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 1
β
β
β
β2025β Residue 366
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)Pathogenic
Jervell and Lange-Nielsen syndrome 1|not provided|Long QT syndrome|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Cardiovascular phenotype|Cardiac arrhythmia|KCNQ1-related disorder|Long QT syndrome 1
β
β
ββ2026β Residue 631
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)Pathogenic
Long QT syndrome|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome 1|not provided|Cardiac arrhythmia|Incidental Discovery
β
β
ββ2026β Residue 302
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)Pathogenic
not provided|Long QT syndrome 1
β
β
ββ2026β Residue 231
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)Pathogenic
not provided|Long QT syndrome 1|Cardiac arrhythmia
β
β
ββ2026β Residue 591
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)Pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 1|Cardiac arrhythmia|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2
β
β
ββ2026β Residue 555
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)Pathogenic
Congenital long QT syndrome|not provided|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
β
β
ββ2026β Residue 322
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)Pathogenic
Long QT syndrome|not provided|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Cardiovascular phenotype|Long QT syndrome 1|Cardiac arrhythmia|Jervell and Lange-Nielsen syndrome 1|KCNQ1-related disorder
β
β
ββ2026β Residue 530
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)Pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Long QT syndrome 1|Cardiac arrhythmia
β
β
ββ2026β Residue 266
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)Pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 1|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|KCNQ1-related disorder|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2|Cardiovascular phenotype|Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2|Cardiac arrhythmia|Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1
β
β
ββ2026β Residue 362
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)Pathogenic
Long QT syndrome 1|not provided|Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|KCNQ1-related disorder|Cardiac arrhythmia
β
β
ββ2026β Residue 205
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)Pathogenic
Long QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|not provided|Cardiovascular phenotype|Atrial fibrillation, familial, 3
β
β
ββ2026β Residue 505