Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006