Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852520
rs137852520
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 11772994

2002
dbSNP: rs137852520
rs137852520
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. 10469653

1999
dbSNP: rs137852520
rs137852520
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 7920659

1994
dbSNP: rs137852524
rs137852524
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 11772994

2002
dbSNP: rs1557090220
rs1557090220
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 19846429

2010
dbSNP: rs1557091278
rs1557091278
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557092248
rs1557092248
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1569544723
rs1569544723
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1569544908
rs1569544908
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. 8069317

1994
dbSNP: rs863224494
rs863224494
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 11438988

2001
dbSNP: rs863224494
rs863224494
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 10797421

2000
dbSNP: rs886039405
rs886039405
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886039410
rs886039410
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR