Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation BEFREE Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach. 29804243

2018

dbSNP: rs137854552
rs137854552
NF1
0.730 GeneticVariation BEFREE This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population. 18407053

2008

dbSNP: rs137854552
rs137854552
NF1
0.730 GeneticVariation BEFREE To estimate its frequency in NF1, we employed a PCR-restriction digestion method to examine 17 CpGs in 65 patients, and also screened for a CpG nonsense transition (R1947X) that occurs in 1-2% of patients. 10336779

1998

dbSNP: rs137854552
rs137854552
NF1
0.730 GeneticVariation BEFREE Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. 16117786

2005

dbSNP: rs137854562
rs137854562
NF1
0.720 GeneticVariation BEFREE Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT). 12483293

2003

dbSNP: rs137854562
rs137854562
NF1
0.720 GeneticVariation BEFREE We report here that a child with this form of NF1 displays a heterozygous NF1 gene mutation (c.3721C>T), in addition to a homozygous MLH1 gene mutation (c.676C>T) leading to a truncated MLH1 protein (p.R226X). 17889038

2008

dbSNP: rs1060500368
rs1060500368
NF1
0.710 GeneticVariation BEFREE We demonstrate that the human nonsense NF1(Arg681*) and missense NF1(Gly848Arg) mutations have different effects on neurofibromin expression in the mouse and each recapitulates unique aspects of the NF1 phenotype, depending upon the genetic context when assessed in the homozygous state or when paired with a conditional knockout allele. 27482814

2016

dbSNP: rs760703505
rs760703505
NF1
0.710 GeneticVariation BEFREE A heterozygous novel germline nonsense mutation (p.Arg1534*) in exon 35 of the NF1 gene was detected from peripheral leukocytes, which results in a truncated protein lacking the critical domain for GTPase activity, strongly suggesting its causal role in NF1. 31189769

2019

dbSNP: rs768638173
rs768638173
NF1
0.710 GeneticVariation BEFREE Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty. 26666878

2015

dbSNP: rs772295894
rs772295894
NF1
0.710 GeneticVariation BEFREE Here, we describe two truncating mutations in exon 37 of NF1, the recurrent c.6792C>A and the novel c.6799C>T change, that occur in cis and segregate with NF1 in a large family. 22925204

2013

dbSNP: rs786202112
rs786202112
NF1
0.710 GeneticVariation BEFREE Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A. 16961930

2006

dbSNP: rs797045139
rs797045139
NF1
0.710 GeneticVariation BEFREE Our finding and revision of the literature consistently indicate that the c.5425C>T change is associated with a distinctive, mild form of NF1, providing new data with direct impact on genetic counseling and patient management. 25370043

2015

dbSNP: rs866445127
rs866445127
NF1
0.710 GeneticVariation BEFREE We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51. 22965773

2012

dbSNP: rs886041347
rs886041347
NF1
0.710 GeneticVariation BEFREE The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. 12661943

2003

dbSNP: rs137854561
rs137854561
NF1
0.010 GeneticVariation BEFREE In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. 11704931

2001

dbSNP: rs1801052
rs1801052
NF1
0.010 GeneticVariation BEFREE We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia. 31048186

2019

dbSNP: rs768366978
rs768366978
NF1
0.010 GeneticVariation BEFREE We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51. 22965773

2012

dbSNP: rs777369021
rs777369021
NF1
0.010 GeneticVariation BEFREE In this study we investigated the expression of exon 7 transcripts using bioinformatic identification of splicing regulatory sequences, and functional minigene analysis of four sequence changes [c.910C>T (R304X), c.945G>A/c.946C>A (Q315Q/L316M), c.1005T>C (N335N)] identified in exon 7 of three different NF1 patients. 17295913

2007