Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854550
rs137854550
NF1
G 0.700 CausalMutation CLINVAR Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study. 29415745

2018
dbSNP: rs137854550
rs137854550
NF1
G 0.700 CausalMutation CLINVAR Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool? 27716896

2017
dbSNP: rs199474741
rs199474741
NF1
G 0.700 GeneticVariation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs876657714
rs876657714
NF1
T 0.700 CausalMutation CLINVAR Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. 27862945

2017
dbSNP: rs1060500242
rs1060500242
NF1
T 0.700 CausalMutation CLINVAR Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience. 27305697

2016
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. 26969325

2016
dbSNP: rs199474746
rs199474746
NF1
A 0.700 GeneticVariation 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: rs768638173
rs768638173
NF1
T 0.700 CausalMutation CLINVAR Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. 27482814

2016
dbSNP: rs768638173
rs768638173
NF1
T 0.700 CausalMutation CLINVAR NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1. 26908603

2016
dbSNP: rs768638173
rs768638173
NF1
T 0.700 CausalMutation CLINVAR Exploring the genetic basis for clinical variation in neurofibromatosis type 1. 27171602

2016
dbSNP: rs768638173
rs768638173
NF1
T 0.700 CausalMutation CLINVAR De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging. 26973730

2016
dbSNP: rs786202782
rs786202782
NF1
T 0.700 CausalMutation CLINVAR Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1. 26514327

2016
dbSNP: rs786204157
rs786204157
NF1
C 0.700 GeneticVariation CLINVAR No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. 26969325

2016
dbSNP: rs886041347
rs886041347
NF1
T 0.700 CausalMutation CLINVAR No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. 26969325

2016
dbSNP: rs1057517967
rs1057517967
NF1
A 0.700 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: rs1057518792
rs1057518792
NF1
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1060500242
rs1060500242
NF1
T 0.700 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: rs1131691079
rs1131691079
NF1
A 0.700 GeneticVariation 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: rs1131691079
rs1131691079
NF1
G 0.700 GeneticVariation 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: rs1131691100
rs1131691100
NF1
T 0.700 CausalMutation CLINVAR Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. 25612910

2015
dbSNP: rs1131691114
rs1131691114
NF1
T 0.700 CausalMutation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015
dbSNP: rs1131691122
rs1131691122
NF1
T 0.700 CausalMutation CLINVAR Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1. 25480383

2015
dbSNP: rs1131691123
rs1131691123
NF1
T 0.700 GeneticVariation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015
dbSNP: rs1131691129
rs1131691129
NF1
TC 0.700 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: rs1135402838
rs1135402838
NF1
T 0.700 CausalMutation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015