Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 26178382

2015
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 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: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017
dbSNP: rs1555534380
rs1555534380
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017