Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607592
rs267607592
LMNA
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		A 0.700 CausalMutation CLINVAR Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 19446900

2009
dbSNP: rs267607592
rs267607592
LMNA
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		A 0.700 CausalMutation CLINVAR [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. 15678000

2005