|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Patients with V122I-hATTR-CM were more impaired functionally ( P<0.001) and had worse measures of cardiac disease ( P<0.001) at the time of diagnosis, a greater decline in quality of life, and poorer survival ( P<0.001) in comparison with the other subgroups.
|
31109193 |
2019 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Structural changes caused by the V122I cardiomyopathy-associated mutation are restricted to the immediate vicinity of the mutation site, directly perturbing the subunit interfaces.
|
29972637 |
2018 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.
|
28102864 |
2017 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
To the best of our knowledge, we describe the larger report of Caucasian patients with Val142Ile cardiomyopathy.
|
26428663 |
2016 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In Afro-Caribbean patients, ATTR V122I is an underappreciated cause of heart failure, and cardiomyopathy is often misattributed to hypertension.
|
27618855 |
2016 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln).
|
23193944 |
2013 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
ATTR V122I and AL are equally prevalent as the cause of cardiomyopathy in African Americans referred for a diagnosis of amyloidosis.
|
19781421 |
2009 |
|
rs76992529
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The V122I variant is the most common amyloidogenic mutation worldwide, producing familial amyloidotic cardiomyopathy primarily in individuals of African descent.
|
11752443 |
2001 |
|
rs76992529
|
|
A |
0.780 |
CausalMutation |
CLINVAR |
|
|
|
|
rs786205436
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
|
rs786205436
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
|
rs56793579
|
|
|
0.710 |
GeneticVariation |
BEFREE |
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.
|
20041886 |
2010 |
|
rs56793579
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.
|
20041886 |
2010 |
|
rs56793579
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
|
12015247 |
2002 |
|
rs56793579
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.
|
12647844 |
2002 |
|
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
|
29517769 |
2018 |
|
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
|
29024827 |
2018 |
|
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.
|
28359939 |
2017 |
|
rs769139957
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
|
28630369 |
2017 |
|
rs1057517686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
|
27640307 |
2016 |
|
rs114638163
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
|
27799064 |
2016 |
|
rs121912998
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
|
27435932 |
2016 |
|
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.
|
27177193 |
2016 |
|
rs267606976
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
|
23992123 |
2014 |