Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852843
rs137852843
CCM2
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs137852843
rs137852843
CCM2
0.800 GeneticVariation UNIPROT De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations. 22415356

2012
dbSNP: rs137852843
rs137852843
CCM2
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs137852843
rs137852843
CCM2
0.800 GeneticVariation UNIPROT Mutations within the MGC4607 gene cause cerebral cavernous malformations. 14740320

2004
dbSNP: rs137852843
rs137852843
CCM2
0.800 GeneticVariation UNIPROT Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 14624391

2003
dbSNP: rs137852843
rs137852843
CCM2
G 0.800 CausalMutation CLINVAR

dbSNP: rs1554377652
rs1554377652
CCM2
C 0.700 GeneticVariation CLINVAR Review of familial cerebral cavernous malformations and report of seven additional families. 27792856

2017
dbSNP: rs755800734
rs755800734
CCM2
T 0.700 CausalMutation CLINVAR Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. 24466005

2014
dbSNP: rs755800734
rs755800734
CCM2
T 0.700 CausalMutation CLINVAR CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 23595507

2013
dbSNP: rs797044623
rs797044623
CCM2 ; LOC102723334
TT 0.700 CausalMutation CLINVAR CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 23595507

2013
dbSNP: rs797044623
rs797044623
CCM2 ; LOC102723334
TT 0.700 CausalMutation CLINVAR A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 21543988

2011
dbSNP: rs1562848479
rs1562848479
CCM2 ; LOC102723334
A 0.700 CausalMutation CLINVAR Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. 18300272

2008
dbSNP: rs1562848479
rs1562848479
CCM2 ; LOC102723334
A 0.700 CausalMutation CLINVAR Deletions in CCM2 are a common cause of cerebral cavernous malformations. 17160895

2007
dbSNP: rs1331484727
rs1331484727
CCM2
AC 0.700 CausalMutation CLINVAR Mutations within the MGC4607 gene cause cerebral cavernous malformations. 14740320

2004
dbSNP: rs1562848479
rs1562848479
CCM2 ; LOC102723334
A 0.700 CausalMutation CLINVAR CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. 15122722

2004
dbSNP: rs755800734
rs755800734
CCM2
T 0.700 CausalMutation CLINVAR CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. 15122722

2004
dbSNP: rs1562848479
rs1562848479
CCM2 ; LOC102723334
A 0.700 CausalMutation CLINVAR Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 14624391

2003
dbSNP: rs1562848479
rs1562848479
CCM2 ; LOC102723334
A 0.700 CausalMutation CLINVAR Verapamil alters the relationship between renal perfusion pressure and glomerular filtration rate and renin release: the mechanism of the antihypertensive effect. 2468908

1988
dbSNP: rs137852841
rs137852841
CCM2
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852842
rs137852842
CCM2 ; LOC102723334
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554365507
rs1554365507
CCM2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554365511
rs1554365511
CCM2
CATTTAAACGAGTATTTAAA 0.700 CausalMutation CLINVAR

dbSNP: rs1562848466
rs1562848466
CCM2 ; LOC102723334
A 0.700 CausalMutation CLINVAR

dbSNP: rs1562906798
rs1562906798
CCM2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1562906981
rs1562906981
CCM2
A 0.700 CausalMutation CLINVAR