Gene: NIPBL ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784024
rs587784024
NIPBL
A 0.800 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122

2016
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122

2016
dbSNP: rs587784036
rs587784036
NIPBL
A 0.800 CausalMutation CLINVAR High rate of mosaicism in individuals with Cornelia de Lange syndrome. 23505322

2013
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390

2013
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 17661813

2007
dbSNP: rs587784024
rs587784024
NIPBL
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 16236812

2006
dbSNP: rs587784024
rs587784024
NIPBL
A 0.800 CausalMutation CLINVAR Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726

2005
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726

2005
dbSNP: rs587784036
rs587784036
NIPBL
A 0.800 CausalMutation CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302

2004
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302

2004
dbSNP: rs121918265
rs121918265
NIPBL
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918268
rs121918268
NIPBL
G 0.800 CausalMutation CLINVAR

dbSNP: rs587784000
rs587784000
NIPBL
T 0.800 GeneticVariation CLINVAR

dbSNP: rs587784025
rs587784025
NIPBL
T 0.800 GeneticVariation CLINVAR

dbSNP: rs587784042
rs587784042
NIPBL
G 0.800 CausalMutation CLINVAR

dbSNP: rs80358376
rs80358376
NIPBL
G 0.800 CausalMutation CLINVAR

dbSNP: rs1561083229
rs1561083229
NIPBL
G 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1561164598
rs1561164598
NIPBL
C 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1561207924
rs1561207924
NIPBL
C 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs398124465
rs398124465
NIPBL
C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs886042231
rs886042231
NIPBL
A 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1057516034
rs1057516034
NIPBL
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs587783968
rs587783968
NIPBL
G 0.700 CausalMutation CLINVAR Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. 26925417

2016
dbSNP: rs587783968
rs587783968
NIPBL
G 0.700 CausalMutation CLINVAR A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. 26701315

2016
dbSNP: rs587784020
rs587784020
NIPBL
C 0.700 CausalMutation CLINVAR Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. 24635725

2014