Gene: ERCC2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes. 23800062

2013
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). 24252196

2013
dbSNP: rs41556519
rs41556519
ERCC2
A 0.810 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 18637129

2009
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 12820975

2003
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 11710928

2001
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033

1997
dbSNP: rs121913020
rs121913020
ERCC2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913024
rs121913024
ERCC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913026
rs121913026
ERCC2
A 0.710 CausalMutation CLINVAR

dbSNP: rs587778271
rs587778271
ERCC2
T 0.700 GeneticVariation CLINVAR Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. 27504877

2016
dbSNP: rs746795177
rs746795177
ERCC2
C 0.700 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
dbSNP: rs758439420
rs758439420
ERCC2
T 0.700 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012
dbSNP: rs587778271
rs587778271
ERCC2
T 0.700 GeneticVariation CLINVAR Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. 20633800

2010
dbSNP: rs587778271
rs587778271
ERCC2
T 0.700 GeneticVariation CLINVAR Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 11709541

2001
dbSNP: rs144564120
rs144564120
ERCC2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1568546120
rs1568546120
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568546252
rs1568546252
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs762309206
rs762309206
ERCC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs964247601
rs964247601
ERCC2
A 0.700 CausalMutation CLINVAR