Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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