Gene: SPRED1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434318
rs121434318
SPRED1
0.800 GeneticVariation UNIPROT Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs121434318
rs121434318
SPRED1
0.800 GeneticVariation UNIPROT Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. 20108422

2010
dbSNP: rs121434318
rs121434318
SPRED1
0.800 GeneticVariation UNIPROT SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465

2009
dbSNP: rs121434318
rs121434318
SPRED1
0.800 GeneticVariation UNIPROT Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776

2007
dbSNP: rs121434318
rs121434318
SPRED1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057517941
rs1057517941
SPRED1
0.710 GeneticVariation BEFREE In one case we identified a nonsense mutation c.46C>T (p.Arg16*) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome.This mutation was reported previously. 28150585

2017
dbSNP: rs1057517941
rs1057517941
SPRED1
T 0.710 CausalMutation CLINVAR Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 25074460

2015
dbSNP: rs121434312
rs121434312
SPRED1
0.710 GeneticVariation BEFREE Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. 25981987

2015
dbSNP: rs121434312
rs121434312
SPRED1
T 0.710 CausalMutation CLINVAR Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. 25981987

2015
dbSNP: rs121434312
rs121434312
SPRED1
T 0.710 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs121434312
rs121434312
SPRED1
T 0.710 CausalMutation CLINVAR Identification of five novel SPRED1 germline mutations in Legius syndrome. 21649642

2011
dbSNP: rs1057517941
rs1057517941
SPRED1
T 0.710 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998

2009
dbSNP: rs1057517941
rs1057517941
SPRED1
T 0.710 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465

2009
dbSNP: rs121434312
rs121434312
SPRED1
T 0.710 CausalMutation CLINVAR Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776

2007
dbSNP: rs1555392609
rs1555392609
SPRED1
T 0.700 CausalMutation CLINVAR A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. 22751498

2012
dbSNP: rs121434313
rs121434313
SPRED1
T 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs121434315
rs121434315
SPRED1
T 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs1555391053
rs1555391053
SPRED1
TA 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs1566876954
rs1566876954
SPRED1
G 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs750777752
rs750777752
SPRED1
T 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs878855228
rs878855228
SPRED1
C 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs750777752
rs750777752
SPRED1
T 0.700 CausalMutation CLINVAR SPRED 1 mutations in a neurofibromatosis clinic. 20179001

2010
dbSNP: rs121434313
rs121434313
SPRED1
T 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009
dbSNP: rs121434315
rs121434315
SPRED1
T 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998

2009
dbSNP: rs121434316
rs121434316
SPRED1
T 0.700 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998

2009