Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Evolution of a genetic diagnosis. 24237251

2015

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells. 23362510

2013

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636

1990