rs1554919471
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.
|
29372044 |
2018 |
rs1554920808
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
|
29033053 |
2018 |
rs1057518916
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1178187217
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1247665387
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554430943
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs199473442
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs201943194
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs543860009
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs766265889
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs868064163
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs878854378
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs199472730
|
|
|
0.020 |
GeneticVariation |
BEFREE |
More than half of the patients with V254M or S277L suffered sudden cardiac death or syncope.
|
29439887 |
2018 |
rs1805123
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings suggest that K897T may contribute to the occurrence of syncope.
|
28336205 |
2017 |
rs767910122
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings suggest that K897T may contribute to the occurrence of syncope.
|
28336205 |
2017 |
rs794728448
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings suggest that K897T may contribute to the occurrence of syncope.
|
28336205 |
2017 |
rs1805123
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Subgroup analysis showed that the presence of the K897T polymorphism in the LQT2 gene in an affected family was associated with an 11-fold (P=0.001) increase in the risk of recurrent syncope in genotype-negative subjects.
|
21831960 |
2011 |
rs199472730
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified a KCNQ1 missense mutation, KCNQ1 S277L, in a patient presenting with recurrent syncope triggered by emotional stress (QTc=528ms).
|
21241800 |
2011 |
rs767910122
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Subgroup analysis showed that the presence of the K897T polymorphism in the LQT2 gene in an affected family was associated with an 11-fold (P=0.001) increase in the risk of recurrent syncope in genotype-negative subjects.
|
21831960 |
2011 |
rs794728448
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Subgroup analysis showed that the presence of the K897T polymorphism in the LQT2 gene in an affected family was associated with an 11-fold (P=0.001) increase in the risk of recurrent syncope in genotype-negative subjects.
|
21831960 |
2011 |
rs786205753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied a five-generation family, in which a CACNA1C variant c.2573G>A p.Arg858His co-segregates with syncope and cardiac arrest, documenting electrocardiographic data and cardiac symptomatology.
|
30345660 |
2019 |
rs915012109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Results According to whole exome sequencing, we identified a de novo mutation (c.814T>C/p.F272L) of SET and MYND domain containing histone methyltransferase 1 (SMYD1) in a Chinese patient with HCM exhibiting syncope.
|
30205637 |
2019 |
rs120074179
|
|
|
0.010 |
GeneticVariation |
BEFREE |
More than half of the patients with V254M or S277L suffered sudden cardiac death or syncope.
|
29439887 |
2018 |
rs11551437
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel CaM mutation-A103V-in CALM3 in 1 of 12 patients (8%), a female who experienced episodes of exertion-induced syncope since age 10, had normal QT interval, and displayed ventricular ectopy during stress testing consistent with CPVT.
|
27516456 |
2016 |
rs121912504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, a heterozygous missense mutation (A561V) linked to LQT2, syncope and epilepsy was identified in the S5/pore region of the hERG protein.
|
26847485 |
2016 |