rs943777958
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs943777958
|
|
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 |
rs943777958
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs943777958
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs943777958
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs943777958
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
rs926741242
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs920201335
|
|
Cardiomyopathy, Dilated, 1g
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs920201335
|
|
Cardiomyopathy, Dilated, 1g
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs920201335
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs920201335
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886044536
|
|
Cardiomyopathy, Dilated, 1g
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs886044460
|
|
Cardiomyopathy, Dilated, 1g
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs886044460
|
|
Cardiomyopathy, Dilated, 1g
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886044460
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs886044460
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
rs886044460
|
|
Cardiomyopathy, Dilated, 1g
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
rs886044460
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886044009
|
|
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 |
rs886044009
|
|
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 |
rs886044009
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886044009
|
|
Cardiomyopathy, Dilated, 1g
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886042246
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
GGACT |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs886041287
|
|
Congenital muscular dystrophy (disorder)
|
CTG |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs886041287
|
|
Scoliosis, unspecified
|
CTG |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|