### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLIC2) # 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}}" "CLIC2" "chloride intracellular channel 2" "X" "q28" "unknown" "NG_012497.2" "UD_132118566652" "" "https://www.LOVD.nl/CLIC2" "" "1" "2063" "1193" "300138" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/CLIC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2020-02-10 11:30:04" "00000" "2025-11-01 13:22:20" ## 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}}" "00005299" "CLIC2" "chloride intracellular channel 2" "001" "NM_001289.4" "" "NP_001280.3" "" "" "" "-250" "2436" "744" "154563986" "154505500" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01158" "MRXS32" "mental retardation, X-linked, syndromic, type 32 (MRX32)" "XLR" "300886" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CLIC2" "00139" "CLIC2" "01158" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00172394" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00286192" "" "" "" "3" "" "00006" "{PMID:Wilsoni 2014:25434005}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier mother" "M" "" "Australia" "" "0" "" "" "" "FamAusPatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050693" "00198" "00172394" "00187" "00286192" "05613" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01158, 05613 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000137258" "00187" "00172394" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000220048" "05613" "00286192" "00006" "Familial, X-linked recessive" "" "normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; normal copper testing; normal blood count and chemistry; normal urine metabolic testing" "" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000173277" "00172394" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000287353" "00286192" "1" "00006" "00006" "2020-02-10 11:37:22" "" "" "arraySNP" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000173277" "CLIC2" "0000287353" "RAB39B" ## 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 = 15 "{{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}}" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000268134" "0" "50" "X" "154508622" "154508622" "subst" "0" "02329" "CLIC2_000003" "g.154508622G>T" "" "" "" "CLIC2(NM_001289.5):c.401-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155279333G>T" "" "VUS" "" "0000273602" "0" "10" "X" "154507274" "154507274" "subst" "0.000662758" "01943" "CLIC2_000002" "g.154507274G>C" "" "" "" "CLIC2(NM_001289.5):c.662C>G (p.A221G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155277985G>C" "" "benign" "" "0000336309" "0" "50" "X" "154507272" "154507272" "subst" "5.61785E-5" "01804" "CLIC2_000001" "g.154507272G>A" "" "" "" "CLIC2(NM_001289.4):c.664C>T (p.(Arg222Cys)), CLIC2(NM_001289.5):c.664C>T (p.R222C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155277983G>A" "" "VUS" "" "0000336310" "0" "50" "X" "154509266" "154509266" "subst" "0" "01804" "CLIC2_000004" "g.154509266T>C" "" "" "" "CLIC2(NM_001289.4):c.385A>G (p.(Lys129Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155279977T>C" "" "VUS" "" "0000393134" "1" "50" "X" "154508542" "154508542" "subst" "0.00268448" "00124" "CLIC2_000005" "g.154508542G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.155279253G>C" "" "VUS" "" "0000575045" "0" "30" "X" "154508542" "154508542" "subst" "0.00268448" "01804" "CLIC2_000005" "g.154508542G>C" "" "" "" "CLIC2(NM_001289.4):c.478C>G (p.(Pro160Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155279253G>C" "" "likely benign" "" "0000619353" "0" "50" "X" "154509257" "154509257" "subst" "0" "01943" "CLIC2_000006" "g.154509257T>C" "" "" "" "CLIC2(NM_001289.5):c.394A>G (p.N132D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155279968T>C" "" "VUS" "" "0000643144" "21" "90" "X" "154487526" "154509358" "del" "0" "00006" "RAB39B_000010" "g.(?_154487526)_(154509358_154528097)del" "" "{PMID:Wilsoni 2014:25434005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_155258241)_(155280069_155298784)del" "" "pathogenic (recessive)" "" "0000682298" "0" "30" "X" "154507218" "154507218" "subst" "1.12101E-5" "01943" "CLIC2_000007" "g.154507218C>T" "" "" "" "CLIC2(NM_001289.5):c.718G>A (p.A240T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682299" "0" "30" "X" "154528464" "154528464" "subst" "0.000980133" "01943" "CLIC2_000008" "g.154528464A>C" "" "" "" "CLIC2(NM_001289.5):c.58-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693493" "0" "30" "X" "154507272" "154507272" "subst" "5.61785E-5" "01943" "CLIC2_000001" "g.154507272G>A" "" "" "" "CLIC2(NM_001289.4):c.664C>T (p.(Arg222Cys)), CLIC2(NM_001289.5):c.664C>T (p.R222C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693494" "0" "50" "X" "154563706" "154563706" "subst" "0" "02325" "CLIC2_000009" "g.154563706C>T" "" "" "" "CLIC2(NM_001289.6):c.31G>A (p.D11N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728705" "0" "50" "X" "154528454" "154528454" "subst" "0" "01943" "CLIC2_000010" "g.154528454C>A" "" "" "" "CLIC2(NM_001289.5):c.62G>T (p.G21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057459" "0" "30" "X" "154528226" "154528226" "subst" "0" "01804" "CLIC2_000012" "g.154528226A>G" "" "" "" "CLIC2(NM_001289.6):c.168-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CLIC2 ## Count = 15 "{{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}}" "0000079618" "00005299" "00" "-158693" "0" "942095" "0" "c.-158693_*941351dup" "" "" "" "0000268134" "00005299" "50" "401" "-3" "401" "-3" "c.401-3C>A" "r.spl?" "p.?" "" "0000273602" "00005299" "10" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ala221Gly)" "" "0000336309" "00005299" "50" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Cys)" "" "0000336310" "00005299" "50" "385" "0" "385" "0" "c.385A>G" "r.(?)" "p.(Lys129Glu)" "" "0000393134" "00005299" "50" "478" "0" "478" "0" "c.478C>G" "r.(?)" "p.(Pro160Ala)" "" "0000575045" "00005299" "30" "478" "0" "478" "0" "c.478C>G" "r.(?)" "p.(Pro160Ala)" "" "0000619353" "00005299" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Asn132Asp)" "" "0000643144" "00005299" "70" "0" "0" "0" "0" "c.293+1_294-1_*1692[0]" "r.?" "p.?" "3i_6_" "0000682298" "00005299" "30" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Ala240Thr)" "" "0000682299" "00005299" "30" "58" "-6" "58" "-6" "c.58-6T>G" "r.(=)" "p.(=)" "" "0000693493" "00005299" "30" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Cys)" "" "0000693494" "00005299" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Asp11Asn)" "" "0000728705" "00005299" "50" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Gly21Val)" "" "0001057459" "00005299" "30" "168" "-3" "168" "-3" "c.168-3T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050638" "0000079618" "0000173277" "0000393134" "0000287353" "0000643144"