Disease: Jervell-Lange Nielsen Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361 2015
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595 2014
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. 24552659 2014
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		0.730 GeneticVariation BEFREE The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. 24552659 2014
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067 2012
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168 2012
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601 2012
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		0.730 GeneticVariation BEFREE An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsense mutations p.Arg518X and p.Arg190AlafsX95 ) presented with multiple gastric carcinoid tumors and grossly elevated serum gastrin levels (943-1,570 pmol/L; normal 6-55 pmol/L) and absent acid secretion. 21118729 2011
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 14510661 2003
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		0.730 GeneticVariation BEFREE A third allele (R518X) was observed in the second JLNS family. 10737999 2000
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188 1999
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.730 CausalMutation CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		G 0.700 CausalMutation CLINVAR Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 24666684 2015
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		G 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430 2013
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		G 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601 2012
dbSNP: rs397508112
rs397508112
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
dbSNP: rs397508120
rs397508120
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
dbSNP: rs794728565
rs794728565
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
dbSNP: rs397508112
rs397508112
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
dbSNP: rs397508112
rs397508112
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
dbSNP: rs397508120
rs397508120
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962 2002
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		G 0.700 CausalMutation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100 2001
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		G 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188 1999
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		G 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595 1999
dbSNP: rs786204778
rs786204778
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR