rs267607156
|
|
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs281864928
|
|
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs281864928
|
|
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs869320740
|
|
Hereditary Myopathy with Early Respiratory Failure
|
G |
0.730 |
CausalMutation
|
CLINVAR |
|
|
|
rs281864931
|
|
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
|
G |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
rs1009131948
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057518195
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs1057518195
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs1057518195
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs1057518195
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs1057518195
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs1057518195
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs1057518195
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
rs1057518195
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
rs1057518851
|
|
Myopathy
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060500399
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1060500402
|
|
Cardiomyopathy, Dilated, 1g
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1060500419
|
|
Cardiomyopathy, Dilated, 1g
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1060500420
|
|
Cardiomyopathy, Dilated, 1g
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1060500435
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
|
27813223 |
2017 |
rs1060500435
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
|
27813223 |
2017 |
rs1060500435
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs1060500435
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs1060500435
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs1060500435
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |