### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRXCR1) # 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}}" "GRXCR1" "glutaredoxin, cysteine rich 1" "4" "p14" "unknown" "NC_000004.11" "UD_132085261269" "" "https://www.LOVD.nl/GRXCR1" "" "1" "31673" "389207" "613283" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-11 20:46:29" "00000" "2024-04-19 20:27:30" ## 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}}" "00008972" "GRXCR1" "glutaredoxin, cysteine rich 1" "001" "NM_001080476.2" "" "NP_001073945.1" "" "" "" "-1" "991" "873" "42895283" "43032675" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03299" "DFNB25" "deafness, autosomal recessive, type 25 (DFNB-25)" "AR" "613285" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GRXCR1" "03299" "GRXCR1" "05400" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00245700" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Dutch" "" "00245701" "" "" "" "4" "" "00000" "{PMID:Schraders 2010:20137778}" "" "?" "" "" "" "0" "" "" "Pakistan" "" "00245702" "" "" "" "14" "" "00000" "" "" "?" "" "" "" "0" "" "" "Dutch" "" "00245703" "" "" "" "2" "" "00000" "" "" "M" "" "" "" "0" "" "" "Pakistani" "" "00245704" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Dutch" "" "00245705" "" "" "" "3" "" "00000" "" "" "F" "" "" "" "0" "" "" "Dutch" "" "00282462" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282463" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282464" "" "" "" "1" "" "00004" "{PMID:Schraders 2010:20137778}" "" "" "" "" "" "0" "" "" "" "" "00282465" "" "" "" "1" "" "00004" "{PMID:Mori 2015:25802247}" "" "" "" "" "" "0" "" "" "" "" "00282466" "" "" "" "1" "" "00004" "{PMID:Schraders 2010:20137778}" "" "" "" "" "" "0" "" "" "" "" "00282467" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282468" "" "" "" "1" "" "00004" "{PMID:Schraders 2010:20137778}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282469" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282470" "" "" "" "1" "" "00004" "{PMID:Mori 2015:25802247}" "" "" "" "" "" "0" "" "" "" "" "00282471" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282472" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00293619" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00428667" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected (1M,1F), unaffected carrier parents/relatives" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam5" "00441248" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1679" "00441249" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4153" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00245700" "00198" "00245701" "03299" "00245702" "00198" "00245703" "03299" "00245704" "03299" "00245705" "03299" "00282464" "00198" "00282465" "05086" "00282466" "00198" "00282468" "00198" "00282469" "05086" "00282470" "05086" "00293619" "00198" "00428667" "03299" "00441248" "05086" "00441249" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03299, 05086, 05400 ## Count = 9 "{{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}}" "0000216630" "00198" "00282464" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment, non-syndromic, autosomal recessive" "" "0000216631" "00198" "00282466" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment, non-syndromic, autosomal recessive" "" "0000216632" "00198" "00282468" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment, non-syndromic, autosomal recessive" "" "0000218148" "05086" "00282465" "00008" "Unknown" "" "dizziness" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive" "" "0000218149" "05086" "00282469" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218150" "05086" "00282470" "00008" "Unknown" "" "dizziness" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive" "" "0000319572" "03299" "00428667" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "DFNB25" "non-syndromic hearing impairment" "" "0000330688" "05086" "00441248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330689" "05086" "00441249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000246812" "00245700" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000246813" "00245701" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000246814" "00245702" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000246815" "00245703" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000246816" "00245704" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000246817" "00245705" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000283612" "00282462" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283613" "00282463" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283614" "00282464" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283615" "00282465" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283616" "00282466" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283617" "00282467" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283618" "00282468" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283619" "00282469" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283620" "00282470" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283621" "00282471" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283622" "00282472" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294787" "00293619" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000430080" "00428667" "1" "04147" "04147" "2023-01-05 21:46:06" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442734" "00441248" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442735" "00441249" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000246812" "GRXCR1" "0000246813" "GRXCR1" "0000246814" "GRXCR1" "0000246815" "GRXCR1" "0000246816" "GRXCR1" "0000246817" "GRXCR1" "0000283612" "GRXCR1" "0000283613" "GRXCR1" "0000283614" "GRXCR1" "0000283615" "GRXCR1" "0000283616" "GRXCR1" "0000283617" "GRXCR1" "0000283618" "GRXCR1" "0000283619" "GRXCR1" "0000283620" "GRXCR1" "0000283621" "GRXCR1" "0000283622" "GRXCR1" ## 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 = 33 "{{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}}" "0000249050" "0" "10" "4" "42965159" "42965159" "subst" "0.812441" "02325" "GRXCR1_000012" "g.42965159A>C" "" "" "" "GRXCR1(NM_001080476.3):c.627+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42963142A>C" "" "benign" "" "0000281193" "0" "10" "4" "42895423" "42895423" "subst" "0.122523" "02325" "GRXCR1_000011" "g.42895423C>T" "" "" "" "GRXCR1(NM_001080476.3):c.140C>T (p.A47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42893406C>T" "" "benign" "" "0000338079" "0" "10" "4" "42965159" "42965159" "subst" "0.812441" "02327" "GRXCR1_000012" "g.42965159A>C" "" "" "" "GRXCR1(NM_001080476.3):c.627+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42963142A>C" "" "benign" "" "0000339096" "0" "90" "4" "43022362" "43022362" "subst" "8.13988E-6" "02327" "GRXCR1_000001" "g.43022362C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43020345C>A" "" "pathogenic" "" "0000345616" "0" "10" "4" "42895308" "42895308" "subst" "0.08815" "02327" "GRXCR1_000005" "g.42895308G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42893291G>A" "" "benign" "" "0000348003" "0" "50" "4" "43032423" "43032423" "subst" "0" "02327" "GRXCR1_000016" "g.43032423T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43030406T>A" "" "VUS" "" "0000499600" "1" "35" "4" "42895308" "42895308" "subst" "0.08815" "00000" "GRXCR1_000005" "g.42895308G>A" "" "{PMID: Schraders 2010:20137778}" "" "c.25G>A (ss182258860), p.Glu9Lys)" "Heterozygous in 12 Dutch index patients and 14/360 Dutch control alleles. Homozygous in several members of family DEM 4349 and in 19/480 Pakistani control alleles" "Germline" "" "" "0" "" "" "g.42893291G>A" "" "likely benign" "" "0000499601" "3" "90" "4" "42895512" "42895512" "subst" "0" "00000" "GRXCR1_000003" "g.42895512C>T" "" "{PMID:Schraders 2010:20137778}" "" "Gln77X" "not in 480 controls" "Germline" "" "" "0" "" "" "g.42893495C>T" "" "pathogenic (recessive)" "" "0000499602" "1" "35" "4" "42895555" "42895555" "subst" "0.00463087" "00000" "GRXCR1_000006" "g.42895555G>T" "" "{PMID: Schraders 2010:20137778}" "" "c.272G>T (ss182258861), p.Gly91Val" "Found in heterozygous state in one index patient. Although this alteration was not present in 180 Dutch control individuals, it was present in the heterozygous state and in the homozygous state in 13 of 240 and in 1 of 240 normal-hearing Pakistani controls, respectively." "Germline" "" "" "0" "" "" "g.42893538G>T" "" "likely benign" "" "0000499603" "3" "95" "4" "42964936" "42964936" "subst" "6.51089E-5" "00000" "GRXCR1_000004" "g.42964936C>T" "0/480" "{PMID: Schraders 2010:20137778}" "" "p.(Arg138Cys)" "" "Germline" "" "" "0" "" "" "g.42962919C>T" "" "pathogenic (recessive)" "" "0000499604" "3" "95" "4" "42965170" "42965170" "subst" "0.000256925" "00000" "GRXCR1_000002" "g.42965170A>T" "0/360" "{PMID: Schraders 2010:20137778}" "" "p.Gly210valfsX14" "" "Germline" "" "" "0" "" "" "g.42963153A>T" "" "pathogenic (recessive)" "" "0000499605" "3" "95" "4" "43022362" "43022362" "subst" "8.13988E-6" "00000" "GRXCR1_000001" "g.43022362C>A" "0/360" "{PMID: Schraders 2010:20137778}" "" "p.Gly210LeufsX5" "" "Germline" "" "" "0" "" "" "g.43020345C>A" "" "pathogenic (recessive)" "" "0000522587" "0" "90" "4" "42964963" "42964963" "subst" "5.69629E-5" "02325" "GRXCR1_000017" "g.42964963C>T" "" "" "" "GRXCR1(NM_001080476.3):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42962946C>T" "" "pathogenic" "" "0000522588" "0" "90" "4" "43022370" "43022370" "subst" "0" "01943" "GRXCR1_000018" "g.43022370G>C" "" "" "" "GRXCR1(NM_001080476.2):c.628-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43020353G>C" "" "pathogenic" "" "0000522589" "0" "50" "4" "43032469" "43032469" "subst" "0.000702903" "02325" "GRXCR1_000019" "g.43032469G>A" "" "" "" "GRXCR1(NM_001080476.3):c.785G>A (p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43030452G>A" "" "VUS" "" "0000639354" "1" "33" "4" "42895517" "42895517" "subst" "0.000195154" "00004" "GRXCR1_000020" "g.42895517T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42893500T>C" "" "likely benign" "" "0000639355" "1" "55" "4" "42895579" "42895579" "subst" "0" "00004" "GRXCR1_000021" "g.42895579T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42893562T>C" "" "VUS" "" "0000639356" "1" "99" "4" "42964936" "42964936" "subst" "6.51089E-5" "00004" "GRXCR1_000004" "g.42964936C>T" "" "{DB:DVD}, {PMID:Schraders 2010:20137778}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42962919C>T" "" "pathogenic" "" "0000639357" "1" "99" "4" "42964963" "42964963" "subst" "5.69629E-5" "00004" "GRXCR1_000017" "g.42964963C>T" "" "{DB:DVD}, {PMID:Mori 2015:25802247}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42962946C>T" "" "pathogenic" "" "0000639358" "1" "99" "4" "42965170" "42965170" "subst" "0.000256925" "00004" "GRXCR1_000002" "g.42965170A>T" "" "{DB:DVD}, {PMID:Schraders 2010:20137778}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42963153A>T" "" "pathogenic" "" "0000639359" "1" "33" "4" "43022360" "43022360" "subst" "4.06997E-6" "00004" "GRXCR1_000022" "g.43022360C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43020343C>T" "" "likely benign" "" "0000639360" "1" "99" "4" "43022362" "43022362" "subst" "8.13988E-6" "00004" "GRXCR1_000001" "g.43022362C>A" "" "{DB:DVD}, {PMID:Schraders 2010:20137778}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43020345C>A" "" "pathogenic" "" "0000639361" "1" "99" "4" "43032404" "43032404" "del" "0" "00004" "GRXCR1_000023" "g.43032404del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43030387del" "" "pathogenic" "" "0000639362" "1" "99" "4" "43032468" "43032468" "subst" "3.25045E-5" "00004" "GRXCR1_000024" "g.43032468C>T" "" "{DB:DVD}, {PMID:Mori 2015:25802247}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43030451C>T" "" "pathogenic" "" "0000639363" "1" "33" "4" "43032497" "43032497" "subst" "1.21874E-5" "00004" "GRXCR1_000025" "g.43032497C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43030480C>A" "" "likely benign" "" "0000639364" "1" "55" "4" "43032570" "43032570" "subst" "2.43728E-5" "00004" "GRXCR1_000026" "g.43032570C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43030553C>G" "" "VUS" "" "0000651476" "1" "90" "4" "42964936" "42964936" "subst" "6.51089E-5" "03575" "GRXCR1_000004" "g.42964936C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs267606856}" "Germline" "" "rs267606856" "0" "" "" "g.42962919C>T" "" "pathogenic" "" "0000719915" "0" "70" "4" "42964936" "42964936" "subst" "6.51089E-5" "01943" "GRXCR1_000004" "g.42964936C>T" "" "" "" "GRXCR1(NM_001080476.2):c.412C>T (p.R138C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850612" "0" "50" "4" "42895438" "42895438" "subst" "1.22041E-5" "01943" "GRXCR1_000027" "g.42895438T>C" "" "" "" "GRXCR1(NM_001080476.2):c.155T>C (p.I52T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909809" "3" "90" "4" "43032468" "43032468" "subst" "3.25045E-5" "04147" "GRXCR1_000024" "g.43032468C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs761349153" "0" "" "" "g.43030451C>T" "" "pathogenic (recessive)" "ACMG" "0000944061" "3" "90" "4" "42895512" "42895512" "subst" "0" "00006" "GRXCR1_000003" "g.42895512C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42893495C>T" "" "pathogenic (recessive)" "" "0000944062" "3" "70" "4" "43022398" "43022398" "subst" "0" "00006" "GRXCR1_000028" "g.43022398G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.43020381G>A" "" "likely pathogenic (recessive)" "ACMG" "0000976294" "0" "50" "4" "42965064" "42965064" "subst" "0" "01804" "GRXCR1_000029" "g.42965064A>G" "" "" "" "GRXCR1(NM_001080476.3):c.540A>G (p.(Glu180=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 GRXCR1 ## Count = 33 "{{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}}" "0000249050" "00008972" "10" "627" "8" "627" "8" "c.627+8A>C" "r.(=)" "p.(=)" "" "0000281193" "00008972" "10" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ala47Val)" "" "0000338079" "00008972" "10" "627" "8" "627" "8" "c.627+8A>C" "r.(=)" "p.(=)" "" "0000339096" "00008972" "90" "628" "-9" "628" "-9" "c.628-9C>A" "r.(=)" "p.(=)" "" "0000345616" "00008972" "10" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Glu9Lys)" "" "0000348003" "00008972" "50" "739" "0" "739" "0" "c.739T>A" "r.(?)" "p.(Phe247Ile)" "" "0000499600" "00008972" "35" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Glu9Lys)" "?" "0000499601" "00008972" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77*)" "" "0000499602" "00008972" "35" "272" "0" "272" "0" "c.272G>T" "r.(?)" "p.(Gly91Val)" "?" "0000499603" "00008972" "95" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "?" "0000499604" "00008972" "95" "627" "19" "627" "19" "c.627+19A>T" "r.(?)" "p.(=)" "?" "0000499605" "00008972" "95" "628" "-9" "628" "-9" "c.628-9C>A" "r.(?)" "p.(=)" "?" "0000522587" "00008972" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000522588" "00008972" "90" "628" "-1" "628" "-1" "c.628-1G>C" "r.spl?" "p.?" "" "0000522589" "00008972" "50" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000639354" "00008972" "33" "234" "0" "234" "0" "c.234T>C" "r.(=)" "p.(=)" "1" "0000639355" "00008972" "55" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Ile99Thr)" "1" "0000639356" "00008972" "99" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "2" "0000639357" "00008972" "99" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "2" "0000639358" "00008972" "99" "627" "19" "627" "19" "c.627+19A>T" "r.(=)" "p.(=)" "2i" "0000639359" "00008972" "33" "628" "-11" "628" "-11" "c.628-11C>T" "r.(=)" "p.(=)" "2i" "0000639360" "00008972" "99" "628" "-9" "628" "-9" "c.628-9C>A" "r.(=)" "p.(=)" "2i" "0000639361" "00008972" "99" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Ser241Leufs*32)" "4" "0000639362" "00008972" "99" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "4" "0000639363" "00008972" "33" "813" "0" "813" "0" "c.813C>A" "r.(=)" "p.(=)" "4" "0000639364" "00008972" "55" "886" "0" "886" "0" "c.*13C>G" "r.(=)" "p.(=)" "4" "0000651476" "00008972" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000719915" "00008972" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000850612" "00008972" "50" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Ile52Thr)" "" "0000909809" "00008972" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Ter)" "" "0000944061" "00008972" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000944062" "00008972" "70" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Glu219Lys)" "" "0000976294" "00008972" "50" "540" "0" "540" "0" "c.540A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000246812" "0000499600" "0000246813" "0000499601" "0000246814" "0000499602" "0000246815" "0000499603" "0000246816" "0000499604" "0000246817" "0000499605" "0000283612" "0000639354" "0000283613" "0000639355" "0000283614" "0000639356" "0000283615" "0000639357" "0000283616" "0000639358" "0000283617" "0000639359" "0000283618" "0000639360" "0000283619" "0000639361" "0000283620" "0000639362" "0000283621" "0000639363" "0000283622" "0000639364" "0000294787" "0000651476" "0000430080" "0000909809" "0000442734" "0000944061" "0000442735" "0000944062"