LAMB2, laminin subunit beta 2, 3913

N. diseases: 116; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912488
rs121912488
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.810 GeneticVariation BEFREE A different mutation at this codon (R246W), which is highly conserved through evolution, has recently been reported as causing Pierson syndrome. 16912710 2006
dbSNP: rs121912488
rs121912488
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.810 GeneticVariation UNIPROT A different mutation at this codon (R246W), which is highly conserved through evolution, has recently been reported as causing Pierson syndrome. 16912710 2006
dbSNP: rs121912488
rs121912488
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.810 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
dbSNP: rs121912488
rs121912488
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121912492
rs121912492
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.800 GeneticVariation UNIPROT A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
dbSNP: rs387906644
rs387906644
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.800 GeneticVariation UNIPROT A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
dbSNP: rs121912492
rs121912492
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.800 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs387906644
rs387906644
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.800 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs121912492
rs121912492
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906644
rs387906644
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267607207
rs267607207
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation UNIPROT A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
dbSNP: rs267607208
rs267607208
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation UNIPROT A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
dbSNP: rs267607207
rs267607207
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs267607208
rs267607208
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs779317615
rs779317615
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		T 0.700 GeneticVariation CLINVAR Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. 20556798 2010
dbSNP: rs888830612
rs888830612
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010
dbSNP: rs121912491
rs121912491
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710 2006
dbSNP: rs121912492
rs121912492
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710 2006
dbSNP: rs267607207
rs267607207
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710 2006
dbSNP: rs267607208
rs267607208
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710 2006
dbSNP: rs121912491
rs121912491
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
dbSNP: rs121912492
rs121912492
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
dbSNP: rs267607207
rs267607207
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
dbSNP: rs267607208
rs267607208
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease:
Pierson syndrome 		0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
dbSNP: rs121912489
rs121912489
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C3280113
Disease:
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		C 0.700 CausalMutation CLINVAR