rs397517547
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs995029896
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs995029896
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
rs995029896
|
|
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 |
rs995029896
|
|
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 |
rs974671846
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs974671846
|
|
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 |
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
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
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 |
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
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
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 |
rs886042246
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
GGACT |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs886039145
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
TC |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs886039145
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
TC |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886039125
|
|
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 |
rs886039027
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
rs886039027
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886038928
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
rs886038928
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |