Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		T 0.790 CausalMutation CLINVAR Altered splicing in prelamin A-associated premature aging phenotypes. 17076270

2006
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		T 0.790 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		T 0.790 CausalMutation CLINVAR Lamin a truncation in Hutchinson-Gilford progeria. 12702809

2003
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development. 24305605

2014
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Progerin expression disrupts critical adult stem cell functions involved in tissue repair. 25567453

2014
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture. 23969228

2013
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties. 22893709

2012
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR A conserved splicing mechanism of the LMNA gene controls premature aging. 21875900

2011
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. 19172989

2009
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress. 15982412

2005
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		T 0.700 CausalMutation CLINVAR