ClinVar
|
Risk
|
rs192722540(A;A) rs192722540(C;C) rs192722540(T;T) |
Alt
|
rs192722540(A;A) rs192722540(C;C) rs192722540(T;T) |
Reference
|
Rs192722540(G;G) |
Significance |
Probable-non-pathogenic |
Disease |
not specified Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Scapuloperoneal myopathy Laing distal myopathy Myosin storage myopathy |
Variation | info |
---|
Gene |
MYH7 |
CLNDBN |
not specified Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Scapuloperoneal myopathy Laing distal myopathy Myosin storage myopathy |
Reversed |
0 |
HGVS |
NC_000014.8:g.23891399G>A; NC_000014.8:g.23891399G>C |
CLNSRC |
|
CLNACC |
RCV000151250.2, RCV000269104.1, RCV000277463.1, RCV000326571.1, RCV000331325.1, RCV000365939.1, RCV000388141.1, RCV000151251.2, |