Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. 17369502

2007
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468

2010
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006

2008
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 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: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Increased risk of breast cancer in women with NF1. 23165953

2012
dbSNP: rs1555533842
rs1555533842
NF1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017