Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. 15523642

2004
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569

2003
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402

2003
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197

2000
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197

2000
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin. 9545275

1998
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 9302992

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Individual rate constants for the interaction of Ras proteins with GTPase-activating proteins determined by fluorescence spectroscopy. 9109662

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 9302992

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829

1997
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. 8834249

1996
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387

1994
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608

1992
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220

1990