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 A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220

1990
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
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 		C 0.800 CausalMutation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134

2012
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134

2012
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 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 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 		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 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 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 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856

2011
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
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 		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 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 		C 0.800 CausalMutation CLINVAR Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. 16513807

2006
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 		A 0.800 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
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 		C 0.800 CausalMutation CLINVAR Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. 26635368

2016
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 		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 		C 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs137854556
rs137854556
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013