rs121913628
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs141735183
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs148808089
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs3218713
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397516088
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516142
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516165
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516260
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516269
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs45516091
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs45544633
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs727503246
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730880895
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730880903
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1343372308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinically, the p. (Asn1918Lys) mutation is associated with congenital heart defects and/or cardiomyopathy at young age but with a relatively benign course.
|
28864942 |
2017 |
rs371855540
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the proband's childhood-onset distal leg weakness and sister's cardiomyopathy suggest that MYH7 p.Arg1820Gln likely affects function, favoring a digenic etiology of the myopathy.
|
27282841 |
2016 |
rs727504273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one family, a member homozygous for Lys207Gln had cardiomyopathy complicated by left ventricular dilatation, systolic impairment, atrial fibrillation, and defibrillator interventions.
|
15528230 |
2005 |
rs727503249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This patient had a family history of congestive heart failure, including pediatric onset cardiomyopathy where 3 individuals in the family were found to have the MYH7 mutation R1250W.
|
20031619 |
2009 |
rs886039204
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c.2863G > A; p.D955N in the Myosin Heavy Polypeptide 7 gene (MYH7).
|
28642161 |
2017 |