### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLIC5) # 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}}" "CLIC5" "chloride intracellular channel 5" "6" "p12.3" "unknown" "NG_031965.1" "UD_132463798635" "" "https://www.LOVD.nl/CLIC5" "" "1" "13517" "53405" "607293" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CLIC5_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-10-27 15:42:39" "00006" "2022-11-11 19:58:11" ## 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}}" "00025649" "CLIC5" "transcript variant 2" "002" "NM_016929.4" "" "NP_058625.2" "" "" "" "-347" "5393" "756" "45983626" "45866188" "00006" "2021-10-27 15:35:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04415" "DFNB103" "deafness, autosomal recessive, type 103 (DFNB-103)" "AR" "616042" "" "" "" "00000" "2015-09-23 10:25:22" "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 = 1 "{{geneid}}" "{{diseaseid}}" "CLIC5" "04415" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00004157" "" "" "" "2" "" "00784" "{PMID:Seco 2015:24781754}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamW05-009PatII3" "00294124" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294125" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00387995" "" "" "" "3" "" "04147" "{PMID:Wonkam-Tingang 2020:33114113}" "2-generation family, 3 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Cameroon" ">36y" "0" "" "" "African" "FamPatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00004157" "05086" "00294124" "00198" "00294125" "00198" "00387995" "05400" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 04415, 05086, 05400 ## Count = 3 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000280734" "05086" "00004157" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB103" "hearing loss" "" "0000281590" "05400" "00387995" "04147" "Familial, autosomal recessive" "" "Hearing impairment (HP:0000365), no vestibular dysfunction (-HP:0001751), no renal tubular dysfunction (-HP:0000124), no photophobia (-HP:0000613), no blurred vision (-HP:0000622), no vertigo (-HP:0002321), no dizziness (-HP:0002321)" "" "36y" "Prelingual HP:0000399" "" "" "" "" "" "Profound sensorineural HI" "Hearing impairment" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000004085" "00004157" "1" "00784" "00569" "2014-01-06 15:38:25" "" "" "PCR" "DNA" "" "" "0000295292" "00294124" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295293" "00294125" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000389232" "00387995" "1" "04147" "04147" "2021-11-01 16:38:00" "" "" "SEQ-NG-I" "RNA" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000004085" "CLIC5" ## 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 = 22 "{{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}}" "0000012308" "3" "50" "6" "46040039" "46040039" "subst" "0" "00037" "CLIC5_000001" "g.46040039A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46072302A>T" "" "VUS" "" "0000022995" "3" "70" "6" "45922949" "45922949" "subst" "0" "00784" "CLIC5_000002" "g.45922949A>T" "" "{PMID:Seco 2015:24781754}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45955212A>T" "" "VUS" "" "0000273603" "0" "30" "6" "46047743" "46047743" "subst" "0.0027271" "01943" "CLIC5_000004" "g.46047743T>A" "" "" "" "CLIC5(NM_001114086.1):c.237A>T (p.R79S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46080006T>A" "" "likely benign" "" "0000273604" "0" "50" "6" "45882039" "45882039" "subst" "0.000176344" "01943" "CLIC5_000003" "g.45882039G>A" "" "" "" "CLIC5(NM_001114086.1):c.991C>T (p.R331W), CLIC5(NM_001114086.2):c.991C>T (p.R331W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45914302G>A" "" "VUS" "" "0000338136" "0" "10" "6" "45983410" "45983410" "subst" "0" "02327" "CLIC5_000007" "g.45983410A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46015673A>T" "" "benign" "" "0000338138" "0" "10" "6" "46048000" "46048000" "subst" "0.191416" "02327" "CLIC5_000009" "g.46048000T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46080263T>C" "" "benign" "" "0000340118" "0" "10" "6" "45882031" "45882031" "subst" "0" "02327" "CLIC5_000006" "g.45882031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45914294C>T" "" "benign" "" "0000340120" "0" "10" "6" "46048120" "46048120" "subst" "0" "02327" "CLIC5_000013" "g.46048120G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46080383G>T" "" "benign" "" "0000349252" "0" "10" "6" "46047640" "46047640" "subst" "0.0431393" "02327" "CLIC5_000008" "g.46047640T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46079903T>C" "" "benign" "" "0000528986" "0" "50" "6" "45870920" "45870920" "subst" "0" "01943" "CLIC5_000010" "g.45870920C>T" "" "" "" "CLIC5(NM_001114086.1):c.1138G>A (p.A380T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45903183C>T" "" "VUS" "" "0000528987" "0" "50" "6" "45882076" "45882076" "subst" "0.00217789" "01943" "CLIC5_000011" "g.45882076C>A" "" "" "" "CLIC5(NM_001114086.1):c.954G>T (p.E318D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45914339C>A" "" "VUS" "" "0000528988" "0" "30" "6" "45922922" "45922922" "subst" "0" "01943" "CLIC5_000012" "g.45922922G>T" "" "" "" "CLIC5(NM_001114086.1):c.600C>A (p.I200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45955185G>T" "" "likely benign" "" "0000621715" "0" "50" "6" "45909349" "45909349" "subst" "0.00208447" "01943" "CLIC5_000014" "g.45909349G>T" "" "" "" "CLIC5(NM_001114086.1):c.818C>A (p.A273E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45941612G>T" "" "VUS" "" "0000640080" "0" "90" "6" "45922949" "45922949" "subst" "0" "00004" "CLIC5_000002" "g.45922949A>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45955212A>T" "" "pathogenic (recessive)" "" "0000651981" "1" "50" "6" "45909364" "45909364" "subst" "0.00140186" "03575" "CLIC5_000015" "g.45909364C>T" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 16 heterozygous, no homozygous; {DB:CLININrs117204561}" "Germline" "" "rs117204561" "0" "" "" "g.45941627C>T" "" "VUS" "" "0000651982" "1" "30" "6" "45916999" "45916999" "subst" "0.0165347" "03575" "CLIC5_000016" "g.45916999G>T" "23/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs35822882}" "Germline" "" "rs35822882" "0" "" "" "g.45949262G>T" "" "likely benign" "" "0000677792" "0" "50" "6" "45882039" "45882039" "subst" "0.000176344" "02325" "CLIC5_000003" "g.45882039G>A" "" "" "" "CLIC5(NM_001114086.1):c.991C>T (p.R331W), CLIC5(NM_001114086.2):c.991C>T (p.R331W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802623" "0" "30" "6" "45870870" "45870870" "subst" "2.43801E-5" "01943" "CLIC5_000017" "g.45870870G>A" "" "" "" "CLIC5(NM_001114086.1):c.1188C>T (p.I396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802624" "0" "50" "6" "45870934" "45870934" "subst" "2.05432E-5" "01943" "CLIC5_000018" "g.45870934C>T" "" "" "" "CLIC5(NM_001114086.1):c.1124G>A (p.R375Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802625" "0" "30" "6" "46047551" "46047551" "subst" "2.61674E-5" "01943" "CLIC5_000019" "g.46047551A>T" "" "" "" "CLIC5(NM_001114086.1):c.429T>A (p.I143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818148" "11" "90" "6" "45917068" "45917068" "subst" "0" "04147" "CLIC5_000020" "g.45917068A>G" "" "{PMID:Wonkam-Tingang 2020:33114113}" "" "" "ACNG PM2, PP3, PM3, PP1, PP1-S" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000818153" "21" "90" "6" "45983216" "45983216" "subst" "0" "04147" "CLIC5_000021" "g.45983216C>T" "" "{PMID:Wonkam-Tingang 2020:33114113}" "" "" "ACMG PSV1, PP1-S, PM2, PP3" "Germline" "yes" "" "0" "" "" "" "ID 992577" "pathogenic (recessive)" "ACMG" ## 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 CLIC5 ## Count = 22 "{{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}}" "0000012308" "00025649" "50" "-56760" "0" "-56760" "0" "c.-56760T>A" "" "" "" "0000022995" "00025649" "70" "96" "0" "96" "0" "c.96T>A" "r.(?)" "p.(Cys32*)" "" "0000273603" "00025649" "30" "-64464" "0" "-64464" "0" "c.-64464A>T" "r.(?)" "p.(=)" "" "0000273604" "00025649" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000338136" "00025649" "10" "-131" "0" "-131" "0" "c.-131T>A" "r.(?)" "p.(=)" "" "0000338138" "00025649" "10" "-64721" "0" "-64721" "0" "c.-64721A>G" "r.(?)" "p.(=)" "" "0000340118" "00025649" "10" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Lys174=)" "" "0000340120" "00025649" "10" "-64841" "0" "-64841" "0" "c.-64841C>A" "r.(?)" "p.(=)" "" "0000349252" "00025649" "10" "-64361" "0" "-64361" "0" "c.-64361A>G" "r.(?)" "p.(=)" "" "0000528986" "00025649" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Ala221Thr)" "" "0000528987" "00025649" "50" "477" "0" "477" "0" "c.477G>T" "r.(?)" "p.(Glu159Asp)" "" "0000528988" "00025649" "30" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Ile41=)" "" "0000621715" "00025649" "50" "341" "0" "341" "0" "c.341C>A" "r.(?)" "p.(Ala114Glu)" "" "0000640080" "00025649" "90" "96" "0" "96" "0" "c.96T>A" "r.(?)" "p.(Cys32*)" "" "0000651981" "00025649" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Arg109Gln)" "" "0000651982" "00025649" "30" "293" "0" "293" "0" "c.293C>A" "r.(?)" "p.(Pro98His)" "" "0000677792" "00025649" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000802623" "00025649" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Ile237=)" "" "0000802624" "00025649" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" "" "0000802625" "00025649" "30" "-64272" "0" "-64272" "0" "c.-64272T>A" "r.(?)" "p.(=)" "" "0000818148" "00025649" "90" "224" "0" "224" "0" "c.224T>C" "r.(224u>c)" "p.(Leu75Pro)" "" "0000818153" "00025649" "90" "63" "1" "63" "1" "c.63+1G>A" "r.spl" "p.?" "1i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012308" "0000004085" "0000022995" "0000295292" "0000651981" "0000295293" "0000651982" "0000389232" "0000818148" "0000389232" "0000818153"