Gene: LMNA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57318642
rs57318642
LMNA
T 0.820 CausalMutation CLINVAR Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. 23497705

2013
dbSNP: rs60310264
rs60310264
LMNA
A 0.820 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs58596362
rs58596362
LMNA
T 0.790 CausalMutation CLINVAR Altered splicing in prelamin A-associated premature aging phenotypes. 17076270

2006
dbSNP: rs58596362
rs58596362
LMNA
T 0.790 CausalMutation CLINVAR Lamin a truncation in Hutchinson-Gilford progeria. 12702809

2003
dbSNP: rs58596362
rs58596362
LMNA
T 0.790 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs59267781
rs59267781
LMNA
G 0.720 CausalMutation CLINVAR LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. 15121795

2004
dbSNP: rs267607547
rs267607547
LMNA
C 0.710 CausalMutation CLINVAR Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. 24639906

2014
dbSNP: rs59886214
rs59886214
LMNA
A 0.710 CausalMutation CLINVAR Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 17469202

2007
dbSNP: rs57629361
rs57629361
LMNA
A 0.710 GeneticVariation CLINVAR

dbSNP: rs797044486
rs797044486
LMNA
A 0.700 CausalMutation CLINVAR A new lamin a mutation associated with acrogeria syndrome. 24687084

2014
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria. 23804595

2013
dbSNP: rs797044485
rs797044485
LMNA
A 0.700 CausalMutation CLINVAR A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. 23659872

2013
dbSNP: rs797044487
rs797044487
LMNA
A 0.700 CausalMutation CLINVAR Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. 22065502

2011
dbSNP: rs797044488
rs797044488
LMNA
A 0.700 CausalMutation CLINVAR Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. 22065502

2011
dbSNP: rs113436208
rs113436208
LMNA
A 0.700 CausalMutation CLINVAR Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 17469202

2007
dbSNP: rs1553266460
rs1553266460
LMNA
T 0.700 CausalMutation CLINVAR Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 15317753

2004
dbSNP: rs61064130
rs61064130
LMNA
A 0.700 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs113436208
rs113436208
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs113860699
rs113860699
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs113860699
rs113860699
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs59885338
rs59885338
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044488
rs797044488
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs797045011
rs797045011
LMNA
C 0.700 GeneticVariation CLINVAR