Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		G 0.700 CausalMutation CLINVAR New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 25500009

2015
dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		G 0.700 CausalMutation CLINVAR A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 24444549

2014
dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		G 0.700 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 24636144

2014
dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		G 0.700 CausalMutation CLINVAR A rising titan: TTN review and mutation update. 24980681

2014