FANCL, FA complementation group L, 55120

N. diseases: 137; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3732136
rs3732136
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE We found that rs3732136 was significantly associated with SCZ (P = 0.042; odds ratio = 1.25; 95% confidence interval = 1.01-1.55). 26345874 2015
dbSNP: rs771218574
rs771218574
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 GeneticVariation BEFREE While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. 15516848 2004
dbSNP: rs771218574
rs771218574
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		0.010 GeneticVariation BEFREE While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. 15516848 2004
dbSNP: rs1205006300
rs1205006300
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs1205006300
rs1205006300
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
dbSNP: rs144729980
rs144729980
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		T 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
dbSNP: rs144729980
rs144729980
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		T 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs1553435610
rs1553435610
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1558727300
rs1558727300
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		G 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
dbSNP: rs1558727300
rs1558727300
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		G 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs1558737575
rs1558737575
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs1558737575
rs1558737575
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C3469528
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		C 0.700 GeneticVariation CLINVAR Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 25239263 2015
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C3469528
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		C 0.700 GeneticVariation CLINVAR FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. 25659033 2015
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C3469528
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		C 0.700 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C3469528
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		C 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C3469528
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		C 0.700 CausalMutation CLINVAR
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C3469528
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		C 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
dbSNP: rs747253294
rs747253294
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
dbSNP: rs750871999
rs750871999
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. 19111657 2008
dbSNP: rs750871999
rs750871999
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination. 17938197 2007
dbSNP: rs750871999
rs750871999
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection. 24389026 2014
dbSNP: rs750871999
rs750871999
Entrez Id: 7444;55120
Gene Symbol: VRK2;FANCL
VRK2;FANCL
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR A novel ubiquitin ligase is deficient in Fanconi anemia. 12973351 2003