|
Acquired long QT syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A-->G, HERG L552S, and R176W), which are known to account for the majority of inherited LQTS in Finland.
|
17467628 |
2007 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).
|
21244686 |
2011 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
|
25417810 |
2014 |
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified.
|
10841244 |
2000 |
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Four presumable founder mutations (KCNQ1 G589D and IVS7-2A > G, HERG R176W and L552S) together account for as much as 73% of all established Finnish LQTS cases.
|
15176425 |
2004 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified.
|
10841244 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
High prevalence of four long QT syndrome founder mutations in the Finnish population.
|
19160088 |
2009 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
|
12621127 |
2003 |
|
Long Qt Syndrome 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
|
15176425 |
2004 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
|
11170080 |
2001 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
|
21810866 |
2011 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
|
10517660 |
1999 |
|
Long Qt Syndrome 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
|
10483966 |
1999 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.
|
10753933 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
|
8914737 |
1996 |
|
Long Qt Syndrome 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
|
16361248 |
2006 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |