|
rs1114167361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband).
|
29858533 |
2018 |
|
rs1131692185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband).
|
29858533 |
2018 |
|
rs34677717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BAG3-Pro209Leu mutation is associated with early onset MFM and severe restrictive cardiomyopathy (RCM), often necessitating heart transplantation during childhood.
|
29338979 |
2018 |
|
rs1114167341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
|
28493373 |
2017 |
|
rs1204336259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The E143K (Glu → Lys) mutation in the myosin essential light chain has been associated with restrictive cardiomyopathy (RCM) in humans, but the mechanisms that underlie the development of defective cardiac function are unknown.
|
28371863 |
2017 |
|
rs141754300
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
|
27604170 |
2016 |
|
rs200754249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
|
27604170 |
2016 |
|
rs267607124
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
|
27604170 |
2016 |
|
rs267607125
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
|
27604170 |
2016 |
|
rs574304021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These perturbed biophysical and biochemical myofilament properties are likely to significantly contribute to the diastolic cardiac pump dysfunction that is seen in patients suffering from a restrictive cardiomyopathy that is associated with the cTnI R145W mutation.
|
27557662 |
2016 |
|
rs770640091
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
|
27604170 |
2016 |
|
rs970498944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
|
27604170 |
2016 |
|
rs199476408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim was to study a nonsense MYPN-Q529X mutation previously identified in the FRCM family in an animal model to explore the molecular and pathogenic mechanisms of FRCM.
|
25541130 |
2014 |
|
rs121918312
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The BAG3-Pro209Leu mutation is associated with early onset MFM and severe restrictive cardiomyopathy (RCM), often necessitating heart transplantation during childhood.
|
29338979 |
2018 |
|
rs104894724
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These perturbed biophysical and biochemical myofilament properties are likely to significantly contribute to the diastolic cardiac pump dysfunction that is seen in patients suffering from a restrictive cardiomyopathy that is associated with the cTnI R145W mutation.
|
27557662 |
2016 |
|
rs121918312
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy.
|
26545904 |
2015 |
|
rs104894724
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
|
rs1382734231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
|
30260051 |
2018 |
|
rs1563005534
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
|
30260051 |
2018 |
|
rs397516153
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs369634007
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
|
27148590 |
2016 |
|
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
|
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
|
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.
|
23549607 |
2013 |