TCAP, titin-cap, 8557

N. diseases: 6; N. variants: 11
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773317399
rs773317399
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C4225408
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894655
rs104894655
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 10655062 2000
dbSNP: rs104894655
rs104894655
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C1866008
Disease:
Muscular Dystrophy, Limb-Girdle, Type 2G
T 0.700 CausalMutation CLINVAR
dbSNP: rs104894655
rs104894655
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C4225408
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
T 0.700 GeneticVariation CLINVAR
dbSNP: rs149585781
rs149585781
Entrez Id: 5409;8557
Gene Symbol: PNMT;TCAP
PNMT;TCAP
CUI: C4225408
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555606959
rs1555606959
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C1866008
Disease:
Muscular Dystrophy, Limb-Girdle, Type 2G
CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1555606959
rs1555606959
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0026848
Disease:
Myopathy
CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1555606976
rs1555606976
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
C 0.700 CausalMutation CLINVAR
dbSNP: rs1567864804
rs1567864804
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
G 0.700 GeneticVariation CLINVAR
dbSNP: rs397516863
rs397516863
Entrez Id: 5409;8557
Gene Symbol: PNMT;TCAP
PNMT;TCAP
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516863
rs397516863
Entrez Id: 5409;8557
Gene Symbol: PNMT;TCAP
PNMT;TCAP
CUI: C4225408
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
A 0.700 GeneticVariation CLINVAR
dbSNP: rs45495192
rs45495192
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C1866008
Disease:
Muscular Dystrophy, Limb-Girdle, Type 2G
A 0.700 GeneticVariation CLINVAR
dbSNP: rs778568339
rs778568339
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
GCGAGGTGT 0.700 CausalMutation CLINVAR
dbSNP: rs778568339
rs778568339
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C4225408
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
GCGAGGTGT 0.700 CausalMutation CLINVAR
dbSNP: rs786205076
rs786205076
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C1866008
Disease:
Muscular Dystrophy, Limb-Girdle, Type 2G
A 0.700 CausalMutation CLINVAR
dbSNP: rs863224933
rs863224933
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C1866008
Disease:
Muscular Dystrophy, Limb-Girdle, Type 2G
CGAGGTGT 0.700 GeneticVariation CLINVAR