LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142747191
rs142747191
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0423773
Disease:
Scaly skin 		0.010 GeneticVariation BEFREE Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G) during skin development results in a severe phenotype, characterized by dry scaly skin. 24305605 2014
dbSNP: rs536366620
rs536366620
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1142553
Disease:
Primary HIV infection 		0.010 GeneticVariation BEFREE Here, in vitro drug selections compared the development of resistance to DTG, BIC, CAB, EVG and RAL using clinical isolates from treatment-naïve primary HIV infection (PHI) cohort participants (n = 12), and pNL4.3 recombinant strains encoding patient-derived Integrase with (n = 5) and without (n = 5) the E157Q substitution. 30119633 2018
dbSNP: rs200180113
rs200180113
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0748397
Disease:
Reynolds syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs200180113
rs200180113
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0748397
Disease:
Reynolds syndrome 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. 27830109 2016
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 21327084 2012
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 27336722 2016
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus. 18382993 2008
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777172
rs587777172
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4023351
Disease:
Hyposegmentation of neutrophil nuclei 		A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1859461
Disease:
Femoral bowing 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0878659
Disease:
Disproportionate short stature 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4023039
Disease:
Rhizomelic leg shortening 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly 		A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1854912
Disease:
Short long bone 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C3494422
Disease:
Retrognathia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1969532
Disease:
Rhizomelic arm shortening 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1236962991
rs1236962991
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1558655670
rs1558655670
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		TTTCTCATCA 0.700 CausalMutation CLINVAR
dbSNP: rs387906416
rs387906416
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly 		CTTCTAG 0.700 CausalMutation CLINVAR
dbSNP: rs387906416
rs387906416
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		CTTCTAG 0.700 CausalMutation CLINVAR
dbSNP: rs863223326
rs863223326
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863223326
rs863223326
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly 		T 0.700 CausalMutation CLINVAR