Gene: LAMA2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1209130981
rs1209130981
LAMA2
C 0.700 CausalMutation CLINVAR Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. 26304763

2016
dbSNP: rs1554269855
rs1554269855
LAMA2
TG 0.700 CausalMutation CLINVAR Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. 26304763

2016
dbSNP: rs1209130981
rs1209130981
LAMA2
C 0.700 CausalMutation CLINVAR Merosin-deficient congenital muscular dystrophy type 1A: A case report. 24223650

2013
dbSNP: rs1554269855
rs1554269855
LAMA2
TG 0.700 CausalMutation CLINVAR Merosin-deficient congenital muscular dystrophy type 1A: A case report. 24223650

2013
dbSNP: rs1209130981
rs1209130981
LAMA2
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 21953594

2011
dbSNP: rs1554269855
rs1554269855
LAMA2
TG 0.700 CausalMutation CLINVAR Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 21953594

2011
dbSNP: rs1209130981
rs1209130981
LAMA2
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543

2010
dbSNP: rs1554269855
rs1554269855
LAMA2
TG 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543

2010
dbSNP: rs1209130981
rs1209130981
LAMA2
C 0.700 CausalMutation CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894

2008
dbSNP: rs1554269855
rs1554269855
LAMA2
TG 0.700 CausalMutation CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894

2008
dbSNP: rs1209130981
rs1209130981
LAMA2
C 0.700 CausalMutation CLINVAR Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556

2003
dbSNP: rs1554269855
rs1554269855
LAMA2
TG 0.700 CausalMutation CLINVAR Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556

2003