Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504

2013

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286

2013

dbSNP: rs267607555
rs267607555
T 0.700 GeneticVariation CLINVAR Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. 24080738

2013

dbSNP: rs267607555
rs267607555
T 0.700 GeneticVariation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504

2013

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 22700598

2012

dbSNP: rs267607555
rs267607555
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in laminopathies: how does fate translate? 20074070

2010

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 19201734

2009

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Laminopathies: multisystem dystrophy syndromes. 16364671

2006

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 16415042

2006

dbSNP: rs267607555
rs267607555
T 0.700 GeneticVariation CLINVAR Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508

2004

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845

2000

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 10739751

2000

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. 10868844

2000

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060

2000

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585

2000

dbSNP: rs11575937
rs11575937
A 0.700 CausalMutation CLINVAR Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. 2007407

1991

dbSNP: rs267607555
rs267607555
T 0.700 GeneticVariation CLINVAR Diagnostic validity of the MAST and the alcohol dependence scale in the assessment of DSM-III alcohol disorders. 2270059

1990