Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57520892
rs57520892
LMNA
0.810 GeneticVariation UNIPROT A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 16278265

2006
dbSNP: rs60890628
rs60890628
LMNA
0.810 GeneticVariation BEFREE The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. 16278265

2006
dbSNP: rs57520892
rs57520892
LMNA
0.810 GeneticVariation UNIPROT A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. 15998779

2005
dbSNP: rs57520892
rs57520892
LMNA
0.810 GeneticVariation BEFREE The female patient had no breast development despite normal menstruation, a phenotype different from that seen in women with MAD and Arg527His LMNA mutation. 15998779

2005
dbSNP: rs60580541
rs60580541
LMNA
0.810 GeneticVariation BEFREE A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. 15998779

2005
dbSNP: rs57520892
rs57520892
LMNA
0.810 GeneticVariation UNIPROT Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
dbSNP: rs57520892
rs57520892
LMNA
A 0.810 CausalMutation CLINVAR

dbSNP: rs60580541
rs60580541
LMNA
T 0.810 CausalMutation CLINVAR

dbSNP: rs60580541
rs60580541
LMNA
0.810 GeneticVariation UNIPROT

dbSNP: rs60890628
rs60890628
LMNA
T 0.810 CausalMutation CLINVAR

dbSNP: rs60890628
rs60890628
LMNA
0.810 GeneticVariation UNIPROT

dbSNP: rs57318642
rs57318642
LMNA
0.710 GeneticVariation BEFREE Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. 18796515

2008
dbSNP: rs57318642
rs57318642
LMNA
T 0.710 CausalMutation CLINVAR

dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912494
rs121912494
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs56673169
rs56673169
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1385994420
rs1385994420
LMNA
0.010 GeneticVariation BEFREE Here we describe a new case of MAD resulting from compound heterozygote mutations in ZMPSTE24 (p.N256S/p.Y70fs). 20550970

2010
dbSNP: rs28928902
rs28928902
LMNA
0.010 GeneticVariation BEFREE The p.R471C homozygous LMNA mutation causes a severe phenotype of the MAD spectrum. 18348272

2008
dbSNP: rs58850446
rs58850446
LMNA
0.010 GeneticVariation BEFREE We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin. 18435794

2008
dbSNP: rs58922911
rs58922911
LMNA
0.010 GeneticVariation BEFREE We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. 17150192

2007
dbSNP: rs60652225
rs60652225
LMNA
0.010 GeneticVariation BEFREE We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. 17150192

2007