### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERCC8) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ERCC8" "excision repair cross-complementing rodent repair deficiency, complementation group 8" "5" "q12.1" "unknown" "NG_009289.1" "UD_132118280733" "" "https://www.LOVD.nl/ERCC8" "" "1" "3439" "1161" "609412" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ERCC8_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2019-04-20 16:02:49" "00006" "2025-05-27 16:16:50" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000962" "ERCC8" "transcript variant 1" "001" "NM_000082.3" "" "NP_000073.1" "" "" "" "-70" "1974" "1191" "60169659" "60240905" "00000" "2012-09-13 13:03:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00612" "CSA" "Cockayne syndrome, type A (CSA)" "AR" "216400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00613" "UVSS2" "UV-sensitive syndrome, type 2 (UVSS-2)" "AR" "614621" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02306" "UVSS" "UV-sensitive syndrome (UVSS)" "AR" "600630" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05595" "CS" "Cockayne syndrome (CS)" "" "" "" "" "" "00006" "2019-04-20 16:48:42" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ERCC8" "00139" "ERCC8" "00612" "ERCC8" "00613" "ERCC8" "05595" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00057256" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "M" "yes" "" "" "0" "" "" "" "" "00230985" "" "" "" "1" "" "00233" "{PMID:Laugel et al (2010):19894250}" "" "" "" "" "" "0" "" "" "" "" "00230986" "" "" "" "1" "" "00233" "{PMID:Ridley et al (2005):15744458}" "" "" "" "" "" "0" "" "" "" "" "00230987" "" "" "" "1" "" "00233" "{PMID:Laugel et al (2010):19894250}" "" "" "" "" "" "0" "" "" "" "" "00230988" "" "" "" "1" "" "00233" "{PMID:Laugel et al (2010):19894250}" "" "" "" "" "" "0" "" "" "" "" "00230989" "" "" "" "1" "" "00233" "{PMID:Cao et al (2004):14661080}" "" "" "" "" "" "0" "" "" "" "" "00230990" "" "" "" "1" "" "00233" "{PMID:Laugel et al (2010):19894250}" "" "" "" "" "" "0" "" "" "" "" "00230991" "" "" "" "1" "" "00233" "{PMID:Nardo et al (2009):19329487}" "" "" "" "" "" "0" "" "" "" "" "00293887" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295656" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307944" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "17DG0767" "00373719" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "" "Chinese" "iw110" "00374314" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3631" "00416849" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "" "M" "" "" "" "0" "" "" "" "16" "00433353" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "patient" "F" "yes" "Turkey" "" "0" "" "" "" "Pat3;Pat22" "00465605" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00465606" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00465607" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00057256" "00612" "00230985" "05595" "00230986" "05595" "00230987" "05595" "00230988" "05595" "00230989" "05595" "00230990" "05595" "00230991" "02306" "00293887" "00198" "00295656" "00198" "00307944" "00139" "00373719" "00612" "00374314" "00198" "00416849" "00612" "00433353" "05421" "00465605" "00612" "00465606" "00612" "00465607" "00612" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00612, 00613, 01157, 02306, 05421, 05595 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000044551" "00612" "00057256" "01494" "Familial, autosomal recessive" "" "Microcephaly HP:0000252" "" "" "" "" "" "" "" "" "" "" "" "0000173469" "05595" "00230985" "00233" "-" "" "" "" "" "" "" "" "" "" "" "CSA" "Cockayne syndrome" "" "0000173470" "05595" "00230986" "00233" "-" "" "" "" "" "" "" "" "" "" "" "CSA" "Cockayne syndrome" "" "0000173471" "05595" "00230987" "00233" "-" "" "" "" "" "" "" "" "" "" "" "CSA" "Cockayne syndrome" "" "0000173472" "05595" "00230988" "00233" "-" "" "" "" "" "" "" "" "" "" "" "CSA" "Cockayne syndrome" "" "0000173473" "05595" "00230989" "00233" "-" "" "" "" "" "" "" "" "" "" "" "CSA" "Cockayne syndrome" "" "0000173474" "05595" "00230990" "00233" "-" "" "" "" "" "" "" "" "" "" "" "CSA" "Cockayne syndrome" "" "0000173475" "02306" "00230991" "00233" "-" "" "" "" "" "" "" "" "" "" "" "UVSS-2" "UV-sensitive syndrome" "" "0000223220" "00198" "00295656" "01164" "Unknown" "" "Spasticity (HP:0001257); Global developmental delay (HP:0001263); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000233367" "00139" "00307944" "00006" "Familial, autosomal recessive" "1y2m" "see paper; ..., Global developmental delay, Microcephaly, Severe photosensitivity, Congenital cataract" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000268944" "00612" "00373719" "01864" "Familial, autosomal recessive" "" "HP:0001276; HP:0001249; HP:0006817; HP:0000238; HP:0100702; HP:0001263; HP:0000750; HP:0001181; HP:0002194; HP:0010862; HP:0001883" "" "" "" "" "" "" "" "" "Cockayne syndrome, type A (OMIM 216400)" "" "" "0000269524" "00198" "00374314" "00006" "Familial, autosomal recessive" "" "Cerebral atrophy and pigmentation changes in the retinal fundus" "" "" "" "" "" "" "" "" "" "cerebral atrophy" "" "0000308359" "00612" "00416849" "00000" "Familial, autosomal recessive" "3y" "brain magnetic resonance imaging: leucodystrophy, cerebral and cerebellar atrophy; additional clinical featuresshort stature, truncal hypotonia, spasticity, contractures, scoliosis, deafness, pigmentary retinopathy, mildly enlarged liver and elevated aminotransferase, feeding problems, cryptorchid testis, severe developmental delay, progressive disease course (consanguineous parents)" "" "" "" "" "" "" "" "" "Cockayne syndrome type A [MIM 216400]" "" "" "0000323874" "05421" "00433353" "00006" "Familial, autosomal recessive" "11y" "Cockayne syndrome; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000057217" "00057256" "1" "01494" "01494" "2016-01-21 14:46:29" "" "" "SEQ-NG-I" "DNA" "DNA isolated from blood" "" "0000232081" "00230985" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000232082" "00230986" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000232083" "00230987" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000232084" "00230988" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000232085" "00230989" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000232086" "00230990" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000232087" "00230991" "1" "00233" "00006" "2012-07-09 11:40:31" "" "" "SEQ" "DNA" "" "" "0000295055" "00293887" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296828" "00295656" "1" "01164" "01164" "2020-03-22 12:43:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000309088" "00307944" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000374952" "00373719" "1" "01864" "01864" "2021-05-19 07:11:10" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375508" "00374314" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000418131" "00416849" "1" "00000" "03840" "2022-09-08 10:25:47" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "" "0000434807" "00433353" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000467253" "00465605" "1" "04459" "04459" "2025-05-26 10:26:28" "" "" "SEQ-NG" "DNA" "" "" "0000467254" "00465606" "1" "04459" "04459" "2025-05-26 10:37:42" "" "" "SEQ-NG" "DNA" "" "" "0000467255" "00465607" "1" "04459" "04459" "2025-05-26 10:46:30" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000232081" "ERCC8" "0000232082" "ERCC8" "0000232083" "ERCC8" "0000232084" "ERCC8" "0000232085" "ERCC8" "0000232086" "ERCC8" "0000232087" "ERCC8" "0000309088" "ERCC8" "0000374952" "ERCC8" "0000375508" "ERCC8" "0000418131" "ERCC8" "0000467253" "ERCC8" "0000467254" "ERCC8" "0000467255" "ERCC8" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 45 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000002377" "0" "30" "5" "60187501" "60187501" "dup" "0" "00037" "ERCC8_000011" "g.60187501dup" "" "" "" "844-577_844-576insA" "" "Germline" "" "" "0" "" "" "g.60891674dup" "" "likely benign" "" "0000004143" "3" "30" "5" "60188222" "60188222" "subst" "0" "00037" "ERCC8_000009" "g.60188222C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.60892395C>T" "" "likely benign" "" "0000010412" "0" "30" "5" "60187501" "60187501" "dup" "0" "00037" "ERCC8_000011" "g.60187501dup" "" "" "" "844-577_844-576insA" "" "Germline" "" "" "0" "" "" "g.60891674dup" "" "likely benign" "" "0000010413" "0" "30" "5" "60187976" "60187976" "dup" "0" "00037" "ERCC8_000010" "g.60187976dup" "" "" "" "844-1055_844-1054insA" "" "Germline" "" "" "0" "" "" "g.60892149dup" "" "likely benign" "" "0000012142" "0" "30" "5" "60188222" "60188222" "subst" "0" "00037" "ERCC8_000009" "g.60188222C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.60892395C>T" "" "likely benign" "" "0000087509" "3" "70" "5" "60214194" "60214196" "delins" "0" "01494" "ERCC8_000012" "g.60214194_60214196delinsCA" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.60918367_60918369delinsCA" "" "likely pathogenic" "" "0000249369" "0" "30" "5" "60214128" "60214128" "subst" "0.0148732" "02325" "ERCC8_000022" "g.60214128A>G" "" "" "" "ERCC8(NM_000082.4):c.363T>C (p.D121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60918301A>G" "" "likely benign" "" "0000253444" "0" "10" "5" "60200665" "60200665" "subst" "0.205866" "01943" "ERCC8_000017" "g.60200665A>G" "" "" "" "ERCC8(NM_000082.3):c.435T>C (p.Y145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60904838A>G" "" "benign" "" "0000268927" "0" "90" "5" "60194149" "60194149" "subst" "8.1281E-6" "02329" "ERCC8_000015" "g.60194149T>C" "" "" "" "ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_000082.4):c.797A>G (p.(Asp266Gly)), ERCC8(NM_001007233.3):c.623A>G (p.D208G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60898322T>C" "" "pathogenic" "" "0000276368" "0" "90" "5" "60214175" "60214175" "subst" "0" "01943" "ERCC8_000018" "g.60214175G>A" "" "" "" "ERCC8(NM_000082.3):c.316C>T (p.Q106*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60918348G>A" "" "pathogenic" "" "0000276369" "0" "70" "5" "60194149" "60194149" "subst" "8.1281E-6" "01943" "ERCC8_000015" "g.60194149T>C" "" "" "" "ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_000082.4):c.797A>G (p.(Asp266Gly)), ERCC8(NM_001007233.3):c.623A>G (p.D208G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60898322T>C" "" "likely pathogenic" "" "0000276370" "0" "90" "5" "60194228" "60194228" "subst" "0" "01943" "ERCC8_000016" "g.60194228C>T" "" "" "" "ERCC8(NM_000082.3):c.719-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60898401C>T" "" "pathogenic" "" "0000276371" "0" "70" "5" "60194098" "60194098" "subst" "0" "01943" "ERCC8_000014" "g.60194098C>G" "" "" "" "ERCC8(NM_000082.3):c.843+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60898271C>G" "" "likely pathogenic" "" "0000330376" "0" "50" "5" "60183284" "60183284" "subst" "0.000422386" "01804" "ERCC8_000013" "g.60183284C>G" "" "" "" "ERCC8(NM_000082.3):c.1105G>C (p.(Val369Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60887457C>G" "" "VUS" "" "0000344361" "0" "50" "5" "60186741" "60186741" "subst" "0" "02327" "ERCC8_000020" "g.60186741C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60890914C>T" "" "VUS" "" "0000474393" "0" "90" "5" "60200622" "60200622" "subst" "0" "00233" "ERCC8_000002" "g.60200622C>T" "" "{PMID:Laugel et al (2010):19894250}" "" "" "submitted through SIB; {EXP:063507}" "Germline" "" "" "0" "" "" "g.60904795C>T" "" "pathogenic" "" "0000474394" "0" "90" "5" "60200621" "60200621" "subst" "8.14445E-6" "00233" "ERCC8_000006" "g.60200621G>A" "" "{PMID:Ridley et al (2005):15744458}" "" "" "submitted through SIB; {EXP:025380}" "Germline" "" "" "0" "" "" "g.60904794G>A" "" "pathogenic" "" "0000474395" "0" "90" "5" "60198304" "60198304" "subst" "0" "00233" "ERCC8_000003" "g.60198304C>G" "" "{PMID:Laugel et al (2010):19894250}" "" "" "submitted through SIB; {EXP:063508}" "Germline" "" "" "0" "" "" "g.60902477C>G" "" "pathogenic" "" "0000474396" "0" "90" "5" "60198281" "60198281" "subst" "0" "00233" "ERCC8_000004" "g.60198281A>G" "" "{PMID:Laugel et al (2010):19894250}" "" "" "submitted through SIB; {EXP:063509}" "Germline" "" "" "0" "" "" "g.60902454A>G" "" "pathogenic" "" "0000474397" "0" "90" "5" "60198273" "60198273" "subst" "6.51169E-5" "00233" "ERCC8_000007" "g.60198273C>G" "" "{PMID:Cao et al (2004):14661080}" "" "" "submitted through SIB; {EXP:025381}" "Germline" "" "" "0" "" "" "g.60902446C>G" "" "pathogenic" "" "0000474398" "0" "90" "5" "60194149" "60194149" "subst" "8.1281E-6" "00233" "ERCC8_000005" "g.60194149T>C" "" "{PMID:Laugel et al (2010):19894250}" "" "" "submitted through SIB; {EXP:063510}" "Germline" "" "" "0" "" "" "g.60898322T>C" "" "pathogenic" "" "0000474399" "0" "90" "5" "60183306" "60183306" "subst" "0" "00233" "ERCC8_000001" "g.60183306C>A" "" "{PMID:Nardo et al (2009):19329487}" "" "" "submitted through SIB; {EXP:068177}" "Germline" "" "" "0" "" "" "g.60887479C>A" "" "pathogenic" "" "0000525866" "0" "50" "5" "60194162" "60194162" "subst" "0" "02327" "ERCC8_000023" "g.60194162T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60898335T>C" "" "VUS" "" "0000525868" "0" "90" "5" "60214178" "60214179" "del" "0" "02325" "ERCC8_000025" "g.60214178_60214179del" "" "" "" "ERCC8(NM_001007233.3):c.139_140delGT (p.V47Tfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60918351_60918352del" "" "pathogenic" "" "0000525869" "0" "10" "5" "60241142" "60241142" "subst" "0.649188" "02325" "ERCC8_000026" "g.60241142G>A" "" "" "" "NDUFAF2(NM_174889.5):c.60G>A (p.K20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60945315G>A" "" "benign" "" "0000651744" "1" "50" "5" "60194107" "60194107" "subst" "0.00179318" "03575" "ERCC8_000027" "g.60194107G>T" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; {DB:CLININrs61754098}" "Germline" "" "rs61754098" "0" "" "" "g.60898280G>T" "" "VUS" "" "0000653545" "3" "70" "5" "60240799" "60240799" "subst" "7.71517E-5" "01164" "ERCC8_000028" "g.60240799C>A" "" "" "" "" "Cao et al. 2004. J 49: 61" "Germline" "" "rs121434324" "0" "" "" "g.60944972C>A" "" "likely pathogenic" "ACMG" "0000683551" "3" "70" "5" "60200673" "60200673" "del" "0" "00006" "ERCC8_000029" "g.60200673del" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.60904846del" "" "likely pathogenic (recessive)" "ACMG" "0000720468" "0" "90" "5" "60214171" "60214174" "dup" "0" "02329" "ERCC8_000024" "g.60214171_60214174dup" "" "" "" "ERCC8(NM_001007233.3):c.143_146dupAGTG (p.W49*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000785864" "0" "90" "5" "60214097" "60214101" "del" "0" "01864" "ERCC8_000030" "g.60214097_60214101del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.60918270_60918274del" "" "pathogenic (recessive)" "ACMG" "0000785865" "21" "90" "5" "60240799" "60240799" "subst" "0" "01864" "ERCC8_000028" "g.60240799C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000786859" "1" "50" "5" "60224688" "60224691" "del" "0" "00006" "ERCC8_000032" "g.60224688_60224691del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.60928861_60928864del" "" "VUS" "" "0000787474" "2" "70" "5" "60186805" "60186805" "del" "8.1316E-6" "00000" "ERCC8_000031" "g.60186805del" "" "0" "" "" "" "Germline" "" "rs766565870" "0" "" "" "g.60890978del" "" "likely pathogenic" "" "0000877874" "3" "70" "5" "60214194" "60214196" "delins" "0" "00000" "ERCC8_000012" "g.60214194_60214196delinsCA" "" "{PMID:Rump 2016:26846091}" "" "ERCC8 c.295_297delinsTG, p.R99Sfs*26" "error in annotation, Arg is actually changed to Cys and not Ser in the first nucleotide; homozygous" "Germline" "yes" "" "0" "" "" "g.60918367_60918369delinsCA" "" "likely pathogenic" "" "0000912352" "0" "30" "5" "60194107" "60194107" "subst" "0.00179318" "02326" "ERCC8_000027" "g.60194107G>T" "" "" "" "ERCC8(NM_000082.3):c.839C>A (p.T280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920684" "3" "90" "5" "60214194" "60214196" "delins" "0" "00006" "ERCC8_000012" "g.60214194_60214196delinsCA" "" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.60918367_60918369delinsCA" "" "pathogenic (recessive)" "" "0000976823" "0" "90" "5" "60194149" "60194149" "subst" "8.1281E-6" "01804" "ERCC8_000005" "g.60194149T>C" "" "" "" "ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_000082.4):c.797A>G (p.(Asp266Gly)), ERCC8(NM_001007233.3):c.623A>G (p.D208G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027541" "0" "70" "5" "60205799" "60205801" "del" "0" "03779" "ERCC8_000033" "g.60205799_60205801del" "" "" "" "" "" "CLASSIFICATION record" "" "rs768280897" "0" "" "" "" "" "likely pathogenic" "" "0001035259" "0" "50" "5" "60194143" "60194143" "subst" "1.21929E-5" "01804" "ERCC8_000034" "g.60194143C>T" "" "" "" "ERCC8(NM_000082.4):c.803G>A (p.(Arg268Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035260" "0" "30" "5" "60199453" "60199453" "subst" "6.5188E-5" "01804" "ERCC8_000035" "g.60199453G>A" "" "" "" "ERCC8(NM_001007234.3):c.572C>T (p.(Thr191Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035261" "0" "50" "5" "60214109" "60214109" "subst" "1.63288E-5" "01804" "ERCC8_000036" "g.60214109C>T" "" "" "" "ERCC8(NM_000082.4):c.382G>A (p.(Asp128Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045051" "3" "90" "5" "60186901" "60186901" "subst" "0" "04459" "ERCC8_000037" "g.60186901T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.60891074T>A" "" "pathogenic (recessive)" "" "0001045052" "3" "90" "5" "60214097" "60214101" "del" "0" "04459" "ERCC8_000030" "g.60214097_60214101del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.60918270_60918274del" "" "pathogenic (recessive)" "" "0001045053" "21" "90" "5" "60195556" "60195556" "subst" "0" "04459" "ERCC8_000038" "g.60195556T>C" "" "" "" "c.618-2A>G" "" "Germline" "" "" "0" "" "" "g.60899729T>C" "" "pathogenic (recessive)" "" "0001045054" "11" "90" "5" "60186901" "60186901" "subst" "0" "04459" "ERCC8_000037" "g.60186901T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.60891074T>A" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ERCC8 ## Count = 45 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000002377" "00000962" "30" "844" "-577" "844" "-577" "c.844-577dup" "r.(?)" "p.(=)" "9i" "0000004143" "00000962" "30" "844" "-1309" "844" "-1309" "c.844-1309G>A" "r.(?)" "p.(=)" "9i" "0000010412" "00000962" "30" "844" "-577" "844" "-577" "c.844-577dup" "r.(=)" "p.(=)" "9i" "0000010413" "00000962" "30" "844" "-1055" "844" "-1055" "c.844-1055dup" "r.(?)" "p.(=)" "9i" "0000012142" "00000962" "30" "844" "-1309" "844" "-1309" "c.844-1309G>A" "r.(?)" "p.(=)" "9i" "0000087509" "00000962" "70" "295" "0" "297" "0" "c.295_297delinsTG" "r.(?)" "p.(Arg99Cysfs*26)" "4" "0000249369" "00000962" "30" "363" "0" "363" "0" "c.363T>C" "r.(?)" "p.(Asp121=)" "" "0000253444" "00000962" "10" "435" "0" "435" "0" "c.435T>C" "r.(?)" "p.(Tyr145=)" "" "0000268927" "00000962" "90" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asp266Gly)" "" "0000276368" "00000962" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106Ter)" "" "0000276369" "00000962" "70" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asp266Gly)" "" "0000276370" "00000962" "90" "719" "-1" "719" "-1" "c.719-1G>A" "r.spl?" "p.?" "" "0000276371" "00000962" "70" "843" "5" "843" "5" "c.843+5G>C" "r.spl?" "p.?" "" "0000330376" "00000962" "50" "1105" "0" "1105" "0" "c.1105G>C" "r.(?)" "p.(Val369Leu)" "" "0000344361" "00000962" "50" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Cys339Tyr)" "" "0000474393" "00000962" "90" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Ala160Thr)" "?" "0000474394" "00000962" "90" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ala160Val)" "?" "0000474395" "00000962" "90" "582" "0" "582" "0" "c.582G>C" "r.(?)" "p.(Trp194Cys)" "?" "0000474396" "00000962" "90" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Leu202Ser)" "?" "0000474397" "00000962" "90" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Ala205Pro)" "?" "0000474398" "00000962" "90" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asp266Gly)" "?" "0000474399" "00000962" "90" "1083" "0" "1083" "0" "c.1083G>T" "r.(?)" "p.(Trp361Cys)" "?" "0000525866" "00000962" "50" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Thr262Ala)" "" "0000525868" "00000962" "90" "313" "0" "314" "0" "c.313_314del" "r.(?)" "p.(Val105ThrfsTer6)" "" "0000525869" "00000962" "10" "-307" "0" "-307" "0" "c.-307C>T" "r.(?)" "p.(=)" "" "0000651744" "00000962" "50" "839" "0" "839" "0" "c.839C>A" "r.(?)" "p.(Thr280Lys)" "" "0000653545" "00000962" "70" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Glu13*)" "" "0000683551" "00000962" "70" "427" "0" "427" "0" "c.427del" "r.(?)" "p.(Thr143Glnfs*17)" "" "0000720468" "00000962" "90" "317" "0" "320" "0" "c.317_320dup" "r.(?)" "p.(Trp107Ter)" "" "0000785864" "00000962" "90" "394" "0" "398" "0" "c.394_398del" "r.(?)" "p.(Leu132Asnfs*6)" "4" "0000785865" "00000962" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Glu13*)" "1" "0000786859" "00000962" "50" "173" "3" "173" "6" "c.173+3_173+6del" "r.spl" "p.?" "2i" "0000787474" "00000962" "70" "952" "0" "952" "0" "c.952delG" "r.(?)" "p.(Val318PhefsTer10)" "10" "0000877874" "00000962" "70" "295" "0" "297" "0" "c.295_297delinsTG" "r.(?)" "p.(Arg99Cysfs*26)" "5" "0000912352" "00000962" "30" "839" "0" "839" "0" "c.839C>A" "r.(?)" "p.(Thr280Lys)" "" "0000920684" "00000962" "90" "295" "0" "297" "0" "c.295_297delinsTG" "r.(?)" "p.(Arg99CysfsTer26)" "" "0000976823" "00000962" "90" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asp266Gly)" "" "0001027541" "00000962" "70" "400" "-5091" "400" "-5089" "c.400-5091_400-5089del" "r.(?)" "p.(?)" "" "0001035259" "00000962" "50" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268Gln)" "" "0001035260" "00000962" "30" "550" "22" "550" "22" "c.550+22C>T" "r.(=)" "p.(=)" "" "0001035261" "00000962" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0001045051" "00000962" "90" "856" "0" "856" "0" "c.856A>T" "r.(856A>T)" "p.(Lys286*)" "" "0001045052" "00000962" "90" "394" "0" "398" "0" "c.394_398del" "r.(394_398del)" "p.(Leu132Asnfs*6)" "" "0001045053" "00000962" "90" "618" "-2" "618" "-2" "c.618-2A>G" "r.spl" "p.?" "" "0001045054" "00000962" "90" "856" "0" "856" "0" "c.856A>T" "r.(856A>T)" "p.(Lys286*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002377" "0000000209" "0000004143" "0000000210" "0000010412" "0000000210" "0000010413" "0000000210" "0000012142" "0000057217" "0000087509" "0000232081" "0000474393" "0000232082" "0000474394" "0000232083" "0000474395" "0000232084" "0000474396" "0000232085" "0000474397" "0000232086" "0000474398" "0000232087" "0000474399" "0000295055" "0000651744" "0000296828" "0000653545" "0000309088" "0000683551" "0000374952" "0000785864" "0000374952" "0000785865" "0000375508" "0000786859" "0000375508" "0000787474" "0000418131" "0000877874" "0000434807" "0000920684" "0000467253" "0001045051" "0000467254" "0001045052" "0000467255" "0001045053" "0000467255" "0001045054"