Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607592
rs267607592
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 24915601

2014
dbSNP: rs267607592
rs267607592
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		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: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008
dbSNP: rs267607592
rs267607592
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329

2008
dbSNP: rs267607592
rs267607592
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		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