### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLCN7) # 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}}" "CLCN7" "chloride channel, voltage-sensitive 7" "16" "p13" "unknown" "NG_007567.1" "UD_134408255590" "" "https://www.LOVD.nl/CLCN7" "" "1" "2025" "1186" "602727" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CLCN7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-18 09:31:11" "00000" "2025-05-05 21:14:00" ## 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}}" "00005236" "CLCN7" "transcript variant 1" "002" "NM_001287.5" "" "NP_001278.1" "" "" "" "-110" "4116" "2418" "1525085" "1494934" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01483" "OPTA2" "osteopetrosis, autosomal dominant, type 2" "AD" "166600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-05-05 09:47:20" "03033" "OPTB4" "osteopetrosis, autosomal recessive, type 4 (OPTB4)" "AR" "611490" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 09:28:57" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05746" "OPTA" "osteopetrosis, autosomal dominant (OPTA)" "AD" "" "" "" "" "00006" "2020-05-18 09:27:27" "" "" "05747" "OPTB" "osteopetrosis, autosomal recessive (OPTB)" "AD" "" "" "" "" "00006" "2020-05-18 09:28:28" "00006" "2021-12-10 21:51:32" "05748" "HOD" "hypopigmentation, organomegaly, and delayed myelination and development (HOD)" "AD" "618541" "" "" "" "00006" "2020-05-18 09:30:05" "" "" "05969" "NYS" "nystagmus" "" "" "" "" "" "00006" "2021-09-09 11:25:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CLCN7" "01483" "CLCN7" "03033" "CLCN7" "05746" "CLCN7" "05748" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00240147" "" "" "" "1" "" "00006" "{PMID:Fichtman 2019:31178128}" "" "F" "" "United States" "" "0" "" "" "white" "patient 1" "00240148" "" "" "" "1" "" "00006" "{PMID:Fichtman 2019:31178128}" "" "M" "" "Ghana" "" "0" "" "" "" "patient 2" "00291374" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331361" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "16DG1620, 16DG1621" "00359410" "" "" "" "1" "" "03149" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "F" "no" "Brazil" "" "0" "" "" "" "Pat8" "00376344" "" "" "" "3" "" "00559" "{PMID:Liu 2021:34753502}" "2 generation family, affected brother/sister/fetus, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "(Pakistan)" "" "0" "yes" "" "" "FamOP9" "00414856" "" "" "" "2" "" "00559" "{PMID:Liu 2021:34753502}" "2 generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "(Pakistan)" "" "0" "yes" "" "" "FamOP3" "00449734" "" "" "" "1" "" "03544" "" "" "M" "no" "? (unknown)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00240147" "00198" "00240148" "00198" "00291374" "00198" "00331361" "05517" "00359410" "01483" "00376344" "05747" "00414856" "05747" "00449734" "05969" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01483, 03033, 05517, 05746, 05747, 05748, 05969 ## Count = 7 "{{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}}" "0000180299" "00198" "00240147" "00006" "Isolated (sporadic)" "" "see paper; ..., albinism, delayed myelination, delayed development, organomegaly, hypopigmentation, no osteopetrosis" "" "" "" "" "" "" "" "" "" "" "" "0000180300" "00198" "00240148" "00006" "Isolated (sporadic)" "" "see paper; ..., skin and hair hypopigmentation, normally pigmented irides, delayed myelination, delayed development, organomegaly, hypopigmentation, no osteopetrosis" "" "" "" "" "" "" "" "" "" "" "" "0000249553" "05517" "00331361" "00000" "Familial, autosomal recessive" "" "Blindness, Recurrent fractures, Osteopetrosis, Dolichocephaly" "" "" "" "" "" "" "" "" "Osteopetrosis and related disorders" "skeletal dysplasia" "" "0000271552" "05747" "00376344" "00559" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteopetrosis" "" "0000306657" "05747" "00414856" "00559" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteopetrosis" "" "0000338897" "05827" "00449734" "03544" "Isolated (sporadic)" "" "HP:0000609, HP:0007766, HP:0012795, HP:0000545, HP:0012803, HP:0000496, HP:0025404, HP:0000504, HP:0000234" "" "" "" "" "" "" "" "" "OPTB4" "visual abnormality" "" "0000350791" "01483" "00359410" "00006" "Isolated (sporadic)" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "OPTA1" "osteopetrosis late onset" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241250" "00240147" "1" "00006" "00006" "2019-06-11 17:09:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241251" "00240148" "1" "00006" "00006" "2019-06-11 17:13:14" "" "" "SEQ" "DNA" "" "WES" "0000292542" "00291374" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332580" "00331361" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360652" "00359410" "1" "03149" "03149" "2021-03-20 18:55:57" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000377547" "00376344" "1" "00559" "00559" "2021-06-20 13:57:06" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" "0000416137" "00414856" "1" "00559" "00559" "2021-06-20 13:57:06" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" "0000451326" "00449734" "1" "03544" "03544" "2024-05-07 13:33:50" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000241250" "CLCN7" "0000241251" "CLCN7" "0000332580" "CLCN7" ## 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 = 112 "{{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}}" "0000266831" "0" "10" "16" "1503879" "1503879" "subst" "0.533881" "02325" "CLCN7_000003" "g.1503879T>A" "" "" "" "CLCN7(NM_001287.6):c.1170A>T (p.A390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1453878T>A" "" "benign" "" "0000266832" "0" "10" "16" "1502857" "1502857" "subst" "0.0764736" "02325" "CLCN7_000002" "g.1502857C>T" "" "" "" "CLCN7(NM_001287.6):c.1252G>A (p.V418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1452856C>T" "" "benign" "" "0000273594" "0" "30" "16" "1498675" "1498675" "subst" "0.00033843" "01943" "CLCN7_000001" "g.1498675G>A" "" "" "" "CLCN7(NM_001114331.2):c.1811+7C>T (p.(=)), CLCN7(NM_001287.5):c.1883+7C>T, CLCN7(NM_001287.6):c.1883+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1448674G>A" "" "likely benign" "" "0000273595" "0" "30" "16" "1507755" "1507755" "subst" "0.00014236" "01943" "CLCN7_000005" "g.1507755C>T" "" "" "" "CLCN7(NM_001287.5):c.678G>A (p.T226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1457754C>T" "" "likely benign" "" "0000337242" "0" "10" "16" "1498501" "1498501" "subst" "0.0142591" "02327" "CLCN7_000006" "g.1498501G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1448500G>A" "" "benign" "" "0000337244" "0" "30" "16" "1507358" "1507358" "subst" "3.67008E-5" "02327" "CLCN7_000009" "g.1507358G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1457357G>A" "" "likely benign" "" "0000337245" "0" "30" "16" "1509089" "1509089" "subst" "0" "02327" "CLCN7_000011" "g.1509089A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1459088A>C" "" "likely benign" "" "0000340647" "0" "10" "16" "1503879" "1503879" "subst" "0.533881" "02327" "CLCN7_000003" "g.1503879T>A" "" "" "" "CLCN7(NM_001287.6):c.1170A>T (p.A390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1453878T>A" "" "benign" "" "0000340917" "0" "10" "16" "1524850" "1524850" "subst" "0.490896" "02327" "CLCN7_000013" "g.1524850A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1474849A>G" "" "benign" "" "0000340956" "0" "10" "16" "1507737" "1507737" "subst" "0.00970815" "02327" "CLCN7_000010" "g.1507737G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1457736G>A" "" "benign" "" "0000340964" "0" "30" "16" "1500663" "1500663" "subst" "2.5271E-5" "02327" "CLCN7_000007" "g.1500663G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1450662G>C" "" "likely benign" "" "0000345867" "0" "90" "16" "1509140" "1509140" "subst" "0" "02327" "CLCN7_000012" "g.1509140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1459139C>T" "" "pathogenic" "" "0000348315" "0" "70" "16" "1507331" "1507331" "subst" "0" "02327" "CLCN7_000008" "g.1507331G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1457330G>A" "" "likely pathogenic" "" "0000487114" "0" "90" "16" "1497499" "1497499" "subst" "0" "00006" "CLCN7_000014" "g.1497499T>C" "" "{PMID:Fichtman 2019:31178128}" "" "" "" "De novo" "" "" "0" "" "" "g.1447498T>C" "" "pathogenic (dominant)" "" "0000487115" "0" "90" "16" "1497499" "1497499" "subst" "0" "00006" "CLCN7_000014" "g.1497499T>C" "" "{PMID:Fichtman 2019:31178128}" "" "" "" "De novo" "" "" "0" "" "" "g.1447498T>C" "" "pathogenic (dominant)" "" "0000556655" "0" "30" "16" "1492438" "1492438" "subst" "0.00241628" "01804" "CCDC154_000001" "g.1492438C>T" "" "" "" "CCDC154(NM_001143980.1):c.644G>A (p.(Arg215Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1442437C>T" "" "likely benign" "" "0000556656" "0" "50" "16" "1492962" "1492962" "subst" "4.14004E-5" "01804" "CCDC154_000002" "g.1492962C>T" "" "" "" "CCDC154(NM_001143980.1):c.470G>A (p.(Arg157Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1442961C>T" "" "VUS" "" "0000556657" "0" "30" "16" "1493538" "1493538" "subst" "0.000250459" "01804" "CCDC154_000003" "g.1493538G>A" "" "" "" "CCDC154(NM_001143980.1):c.383C>T (p.(Ala128Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1443537G>A" "" "likely benign" "" "0000556660" "0" "10" "16" "1496613" "1496613" "subst" "0.0750427" "02327" "CCDC154_000006" "g.1496613T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1446612T>C" "" "benign" "" "0000556661" "0" "30" "16" "1496647" "1496647" "subst" "0" "01943" "CCDC154_000007" "g.1496647C>A" "" "" "" "CLCN7(NM_001287.5):c.2403G>T (p.S801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1446646C>A" "" "likely benign" "" "0000556662" "0" "10" "16" "1497640" "1497640" "subst" "0.0644304" "02327" "CCDC154_000008" "g.1497640G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1447639G>A" "" "benign" "" "0000556663" "0" "10" "16" "1498408" "1498408" "subst" "0.00113437" "01943" "CCDC154_000009" "g.1498408G>A" "" "" "" "CLCN7(NM_001287.5):c.1961C>T (p.T654M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1448407G>A" "" "benign" "" "0000556665" "0" "10" "16" "1498775" "1498775" "subst" "0.0777633" "02327" "CCDC154_000010" "g.1498775C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1448774C>T" "" "benign" "" "0000556666" "0" "10" "16" "1498777" "1498777" "subst" "0.0323028" "02327" "CCDC154_000011" "g.1498777G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1448776G>A" "" "benign" "" "0000556667" "0" "10" "16" "1498951" "1498951" "subst" "0.0715683" "02327" "CCDC154_000012" "g.1498951C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1448950C>T" "" "benign" "" "0000556668" "0" "30" "16" "1501724" "1501724" "subst" "0.00161007" "01943" "CLCN7_000015" "g.1501724G>A" "" "" "" "CLCN7(NM_001287.5):c.1354-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1451723G>A" "" "likely benign" "" "0000556669" "0" "10" "16" "1502857" "1502857" "subst" "0.0764736" "02327" "CLCN7_000002" "g.1502857C>T" "" "" "" "CLCN7(NM_001287.6):c.1252G>A (p.V418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1452856C>T" "" "benign" "" "0000556670" "0" "10" "16" "1502864" "1502864" "subst" "0.070156" "02327" "CLCN7_000016" "g.1502864A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1452863A>G" "" "benign" "" "0000556671" "0" "10" "16" "1504437" "1504437" "subst" "0.0665891" "02327" "CLCN7_000017" "g.1504437C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1454436C>T" "" "benign" "" "0000556673" "0" "30" "16" "1505814" "1505814" "subst" "0.00172596" "02326" "CLCN7_000018" "g.1505814G>A" "" "" "" "CLCN7(NM_001287.6):c.917-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1455813G>A" "" "likely benign" "" "0000556674" "0" "10" "16" "1506130" "1506130" "subst" "0.0319087" "02327" "CLCN7_000019" "g.1506130C>T" "" "" "" "CLCN7(NM_001114331.2):c.828G>A (p.(Ala276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1456129C>T" "" "benign" "" "0000556675" "0" "50" "16" "1506131" "1506131" "subst" "0" "02327" "CLCN7_000020" "g.1506131G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1456130G>A" "" "VUS" "" "0000556676" "0" "10" "16" "1507238" "1507238" "subst" "0.0677578" "02327" "CLCN7_000021" "g.1507238A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1457237A>G" "" "benign" "" "0000556677" "0" "30" "16" "1507719" "1507719" "subst" "4.06693E-6" "01943" "CLCN7_000022" "g.1507719C>T" "" "" "" "CLCN7(NM_001287.5):c.714G>A (p.V238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1457718C>T" "" "likely benign" "" "0000556678" "0" "10" "16" "1509123" "1509123" "subst" "0.113014" "02327" "CLCN7_000023" "g.1509123G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1459122G>A" "" "benign" "" "0000556679" "0" "10" "16" "1510538" "1510538" "subst" "0.112261" "02327" "CLCN7_000024" "g.1510538A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1460537A>G" "" "benign" "" "0000556681" "0" "10" "16" "1525109" "1525109" "subst" "0" "02327" "CLCN7_000026" "g.1525109C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1475108C>G" "" "benign" "" "0000615706" "0" "30" "16" "1493547" "1493547" "subst" "0.000245082" "01804" "CCDC154_000013" "g.1493547G>A" "" "" "" "CCDC154(NM_001143980.1):c.374C>T (p.(Ala125Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1443546G>A" "" "likely benign" "" "0000615707" "0" "70" "16" "1497064" "1497064" "subst" "0" "02327" "CCDC154_000014" "g.1497064G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1447063G>C" "" "likely pathogenic" "" "0000615708" "0" "30" "16" "1497456" "1497456" "subst" "0" "01943" "CCDC154_000015" "g.1497456G>C" "" "" "" "CLCN7(NM_001287.5):c.2187C>G (p.D729E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1447455G>C" "" "likely benign" "" "0000615709" "0" "50" "16" "1497708" "1497708" "subst" "5.55255E-5" "02327" "CCDC154_000016" "g.1497708C>T" "" "" "" "CLCN7(NM_001287.5):c.2021G>A (p.(Arg674Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1447707C>T" "" "VUS" "" "0000615710" "0" "50" "16" "1505229" "1505229" "subst" "4.062E-6" "01943" "CLCN7_000027" "g.1505229G>A" "" "" "" "CLCN7(NM_001287.5):c.1004C>T (p.T335M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1455228G>A" "" "VUS" "" "0000615711" "0" "30" "16" "1506130" "1506130" "subst" "0.0319087" "01804" "CLCN7_000019" "g.1506130C>T" "" "" "" "CLCN7(NM_001114331.2):c.828G>A (p.(Ala276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1456129C>T" "" "likely benign" "" "0000615712" "0" "50" "16" "1524860" "1524860" "subst" "0" "01804" "CLCN7_000030" "g.1524860C>A" "" "" "" "CLCN7(NM_001114331.2):c.116G>T (p.(Gly39Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1474859C>A" "" "VUS" "" "0000623372" "0" "30" "16" "1498675" "1498675" "subst" "0.00033843" "02326" "CLCN7_000001" "g.1498675G>A" "" "" "" "CLCN7(NM_001114331.2):c.1811+7C>T (p.(=)), CLCN7(NM_001287.5):c.1883+7C>T, CLCN7(NM_001287.6):c.1883+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1448674G>A" "" "likely benign" "" "0000623374" "0" "30" "16" "1509171" "1509171" "subst" "9.8359E-5" "01943" "CLCN7_000028" "g.1509171G>A" "" "" "" "CLCN7(NM_001287.5):c.612C>T (p.S204=), CLCN7(NM_001287.6):c.612C>T (p.S204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1459170G>A" "" "likely benign" "" "0000623375" "0" "30" "16" "1511394" "1511394" "subst" "3.4028E-5" "02326" "CLCN7_000029" "g.1511394C>T" "" "" "" "CLCN7(NM_001287.6):c.351+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1461393C>T" "" "likely benign" "" "0000649231" "1" "50" "16" "1507737" "1507737" "subst" "0.00970815" "03575" "CLCN7_000010" "g.1507737G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs117183989}" "Germline" "" "rs117183989" "0" "" "" "g.1457736G>A" "" "VUS" "" "0000657737" "0" "50" "16" "1497008" "1497008" "subst" "0" "01804" "CCDC154_000017" "g.1497008T>C" "" "" "" "CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.6):c.2330A>G (p.Q777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1447007T>C" "" "VUS" "" "0000657738" "0" "30" "16" "1497008" "1497008" "subst" "0" "02326" "CCDC154_000017" "g.1497008T>C" "" "" "" "CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.6):c.2330A>G (p.Q777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1447007T>C" "" "likely benign" "" "0000680390" "0" "30" "16" "1496678" "1496678" "subst" "0" "01943" "CCDC154_000018" "g.1496678C>T" "" "" "" "CLCN7(NM_001287.5):c.2372G>A (p.R791H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691938" "0" "30" "16" "1499009" "1499009" "subst" "0" "01943" "CCDC154_000019" "g.1499009C>T" "" "" "" "CLCN7(NM_001287.5):c.1755G>A (p.L585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691939" "0" "50" "16" "1510903" "1510903" "subst" "0" "01943" "CLCN7_000031" "g.1510903A>T" "" "" "" "CLCN7(NM_001287.5):c.398T>A (p.I133N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725447" "0" "30" "16" "1497574" "1497574" "subst" "0" "02325" "CCDC154_000020" "g.1497574G>A" "" "" "" "CLCN7(NM_001287.6):c.2074-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725448" "0" "30" "16" "1498392" "1498392" "subst" "9.37811E-5" "01943" "CCDC154_000021" "g.1498392G>A" "" "" "" "CLCN7(NM_001287.5):c.1977C>T (p.N659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725449" "0" "30" "16" "1501622" "1501623" "del" "0" "01804" "CLCN7_000032" "g.1501622_1501623del" "" "" "" "CLCN7(NM_001114331.2):c.1375+8_1375+9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725450" "0" "70" "16" "1506174" "1506174" "subst" "0" "02329" "CLCN7_000004" "g.1506174G>A" "" "" "" "CLCN7(NM_001287.6):c.856C>T (p.R286W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725451" "0" "50" "16" "1510492" "1510494" "del" "0" "01804" "CLCN7_000034" "g.1510492_1510494del" "" "" "" "CLCN7(NM_001114331.2):c.449_451del (p.(Phe150del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729862" "3" "90" "16" "1507356" "1507356" "subst" "8.14744E-6" "00000" "CLCN7_000033" "g.1507356C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001287.5:c.739-18G>A:p.(Met250Argfs*6)" "" "Germline" "" "" "0" "" "" "g.1457355C>T" "" "likely pathogenic (recessive)" "" "0000760712" "0" "70" "16" "1505791" "1505791" "subst" "0" "03149" "CLCN7_000035" "g.1505791C>A" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PP4, PM2, PP3, PP2, PM6" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000789921" "3" "70" "16" "1496634" "1496634" "subst" "0" "00559" "CLCN7_000036" "g.1496634A>T" "" "{PMID:Liu 2021:34753502}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000807070" "0" "30" "16" "1494320" "1494320" "subst" "3.43595E-5" "01943" "CCDC154_000022" "g.1494320A>C" "" "" "" "CCDC154(NM_001143980.1):c.4T>G (p.S2A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807071" "0" "30" "16" "1502807" "1502807" "subst" "9.58096E-5" "01943" "CLCN7_000037" "g.1502807C>T" "" "" "" "CLCN7(NM_001287.5):c.1302G>A (p.S434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854282" "0" "30" "16" "1507303" "1507303" "subst" "4.87413E-5" "01943" "CLCN7_000038" "g.1507303G>A" "" "" "" "CLCN7(NM_001287.5):c.774C>T (p.A258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864304" "0" "50" "16" "1497451" "1497451" "subst" "0" "02325" "CCDC154_000023" "g.1497451C>A" "" "" "" "CLCN7(NM_001287.6):c.2192G>T (p.R731L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864305" "0" "30" "16" "1498675" "1498675" "subst" "0.00033843" "01804" "CLCN7_000001" "g.1498675G>A" "" "" "" "CLCN7(NM_001114331.2):c.1811+7C>T (p.(=)), CLCN7(NM_001287.5):c.1883+7C>T, CLCN7(NM_001287.6):c.1883+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864306" "0" "30" "16" "1524842" "1524842" "subst" "0" "02326" "CLCN7_000039" "g.1524842G>T" "" "" "" "CLCN7(NM_001287.6):c.134C>A (p.A45E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864307" "0" "30" "16" "1524852" "1524852" "subst" "0" "02326" "CLCN7_000040" "g.1524852G>T" "" "" "" "CLCN7(NM_001287.6):c.124C>A (p.P42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874175" "3" "70" "16" "1496634" "1496634" "subst" "0" "00559" "CLCN7_000036" "g.1496634A>T" "" "{PMID:Liu 2021:34753502}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000892534" "0" "30" "16" "1500485" "1500485" "subst" "0.00113606" "02326" "CLCN7_000041" "g.1500485C>T" "" "" "" "CLCN7(NM_001287.6):c.1617+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892535" "0" "50" "16" "1501722" "1501722" "subst" "0" "01804" "CLCN7_000042" "g.1501722G>C" "" "" "" "CLCN7(NM_001114331.2):c.1282-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892537" "0" "30" "16" "1505120" "1505120" "subst" "2.84502E-5" "02326" "CLCN7_000043" "g.1505120G>A" "" "" "" "CLCN7(NM_001287.6):c.1098+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892538" "0" "30" "16" "1505203" "1505203" "subst" "0" "01804" "CLCN7_000044" "g.1505203T>C" "" "" "" "CLCN7(NM_001114331.2):c.958A>G (p.(Ile320Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892539" "0" "30" "16" "1509171" "1509171" "subst" "9.8359E-5" "02326" "CLCN7_000028" "g.1509171G>A" "" "" "" "CLCN7(NM_001287.5):c.612C>T (p.S204=), CLCN7(NM_001287.6):c.612C>T (p.S204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892540" "0" "30" "16" "1511592" "1511594" "del" "0" "02326" "CLCN7_000045" "g.1511592_1511594del" "" "" "" "CLCN7(NM_001287.6):c.285+12_285+14delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892541" "0" "30" "16" "1515332" "1515332" "subst" "3.67785E-5" "01804" "CLCN7_000046" "g.1515332C>T" "" "" "" "CLCN7(NM_001287.5):c.149G>A (p.(Arg50His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914464" "0" "30" "16" "1497731" "1497731" "subst" "0.000262885" "02326" "CCDC154_000024" "g.1497731G>T" "" "" "" "CLCN7(NM_001287.6):c.2014-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914465" "0" "30" "16" "1505792" "1505792" "subst" "0.0030224" "02326" "CLCN7_000047" "g.1505792C>T" "" "" "" "CLCN7(NM_001287.6):c.921G>A (p.G307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914466" "0" "30" "16" "1505813" "1505813" "subst" "2.86789E-5" "02326" "CLCN7_000048" "g.1505813C>T" "" "" "" "CLCN7(NM_001287.6):c.917-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914467" "0" "90" "16" "1511461" "1511461" "subst" "0" "02327" "CLCN7_000049" "g.1511461T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000919621" "0" "90" "16" "1506155" "1506155" "subst" "0" "03779" "CLCN7_000050" "g.1506155C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000926127" "0" "70" "16" "1496695" "1496695" "subst" "0" "02327" "CCDC154_000025" "g.1496695C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926128" "0" "90" "16" "1497039" "1497039" "subst" "0" "02329" "CCDC154_000026" "g.1497039G>A" "" "" "" "CLCN7(NM_001287.6):c.2299C>T (p.R767W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926129" "0" "50" "16" "1498493" "1498493" "subst" "2.49153E-5" "01804" "CCDC154_000027" "g.1498493A>C" "" "" "" "CLCN7(NM_001114331.2):c.1812-8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926130" "0" "70" "16" "1504438" "1504438" "subst" "1.62636E-5" "02326" "CLCN7_000051" "g.1504438G>A" "" "" "" "CLCN7(NM_001287.6):c.1127C>T (p.P376L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926131" "0" "70" "16" "1505729" "1505729" "subst" "0" "02327" "CLCN7_000052" "g.1505729T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927499" "0" "70" "16" "1506192" "1506192" "subst" "0" "03779" "CLCN7_000053" "g.1506192G>A" "" "" "" "" "" "Unknown" "" "rs1395527274" "0" "" "" "" "" "likely pathogenic" "" "0000930502" "0" "30" "16" "1500567" "1500567" "subst" "0.000111383" "02326" "CLCN7_000054" "g.1500567C>T" "" "" "" "CLCN7(NM_001287.6):c.1548G>A (p.P516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930503" "0" "90" "16" "1506174" "1506174" "subst" "0" "02327" "CLCN7_000004" "g.1506174G>A" "" "" "" "CLCN7(NM_001287.6):c.856C>T (p.R286W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930504" "0" "30" "16" "1511407" "1511407" "subst" "0.00175168" "01804" "CLCN7_000055" "g.1511407G>A" "" "" "" "CLCN7(NM_001114331.2):c.278C>T (p.(Thr93Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939931" "0" "10" "16" "1502857" "1502857" "subst" "0.0764736" "03779" "CLCN7_000002" "g.1502857C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs12926089" "0" "" "" "" "" "benign" "" "0000950510" "0" "30" "16" "1503899" "1503899" "subst" "5.29213E-5" "02325" "CLCN7_000056" "g.1503899C>T" "" "" "" "CLCN7(NM_001287.6):c.1154-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968101" "0" "50" "16" "1507703" "1507703" "subst" "2.03474E-5" "01804" "CLCN7_000057" "g.1507703C>T" "" "" "" "CLCN7(NM_001287.5):c.730G>A (p.(Val244Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981609" "0" "50" "16" "1500622" "1500624" "del" "0" "01804" "CLCN7_000058" "g.1500622_1500624del" "" "" "" "CLCN7(NM_001287.6):c.1495_1497del (p.(Phe499del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981610" "0" "50" "16" "1504427" "1504427" "subst" "7.31892E-5" "01804" "CLCN7_000059" "g.1504427C>T" "" "" "" "CLCN7(NM_001287.6):c.1138G>A (p.(Ala380Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981611" "0" "30" "16" "1505814" "1505814" "subst" "0.00172596" "02329" "CLCN7_000018" "g.1505814G>A" "" "" "" "CLCN7(NM_001287.6):c.917-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981612" "0" "30" "16" "1507458" "1507458" "subst" "0" "01804" "CLCN7_000060" "g.1507458A>G" "" "" "" "CLCN7(NM_001287.6):c.739-120T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985177" "21" "70" "16" "1524837" "1524837" "subst" "0" "03544" "CLCN7_000062" "g.1524837G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1524837G>A" "" "pathogenic (recessive)" "ACMG" "0000985178" "11" "70" "16" "1507266" "1507266" "subst" "4.06164E-6" "03544" "CLCN7_000061" "g.1507266G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1457265G>A" "" "pathogenic (recessive)" "ACMG" "0001001894" "0" "50" "16" "1496636" "1496636" "subst" "0" "01804" "CCDC154_000029" "g.1496636G>C" "" "" "" "CLCN7(NM_001287.5):c.2414C>G (p.(Thr805Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001895" "0" "50" "16" "1497033" "1497033" "subst" "0" "01804" "CCDC154_000030" "g.1497033G>C" "" "" "" "CLCN7(NM_001287.5):c.2305C>G (p.(Leu769Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001896" "0" "30" "16" "1497386" "1497393" "dup" "0" "01804" "CCDC154_000031" "g.1497386_1497393dup" "" "" "" "CLCN7(NM_001287.5):c.2250_2250+7dupGGCATGTG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001897" "0" "30" "16" "1497708" "1497708" "subst" "5.55255E-5" "01804" "CCDC154_000016" "g.1497708C>T" "" "" "" "CLCN7(NM_001287.5):c.2021G>A (p.(Arg674Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001898" "0" "50" "16" "1498757" "1498757" "subst" "0" "01804" "CCDC154_000032" "g.1498757T>C" "" "" "" "CLCN7(NM_001287.5):c.1808A>G (p.(Asp603Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001899" "0" "30" "16" "1500644" "1500644" "subst" "3.71677E-5" "01804" "CLCN7_000063" "g.1500644C>T" "" "" "" "CLCN7(NM_001287.5):c.1471G>A (p.(Gly491Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001900" "0" "50" "16" "1502842" "1502842" "subst" "0" "01804" "CLCN7_000064" "g.1502842C>T" "" "" "" "CLCN7(NM_001287.5):c.1267G>A (p.(Val423Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001904" "0" "30" "16" "1515338" "1515338" "subst" "8.19155E-6" "01804" "CLCN7_000065" "g.1515338G>A" "" "" "" "CLCN7(NM_001287.5):c.143C>T (p.(Ser48Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001905" "0" "30" "16" "1524855" "1524855" "subst" "5.81971E-5" "01804" "CLCN7_000066" "g.1524855C>G" "" "" "" "CLCN7(NM_001287.5):c.121G>C (p.(Gly41Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040783" "0" "30" "16" "1497545" "1497545" "subst" "0" "01804" "CCDC154_000034" "g.1497545C>T" "" "" "" "CLCN7(NM_001287.6):c.2098G>A (p.(Gly700Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040785" "0" "30" "16" "1497720" "1497720" "subst" "0" "01804" "CCDC154_000035" "g.1497720A>G" "" "" "" "CLCN7(NM_001287.6):c.2014-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040786" "0" "50" "16" "1502884" "1502884" "subst" "0" "01804" "CLCN7_000067" "g.1502884G>A" "" "" "" "CLCN7(NM_001287.6):c.1225C>T (p.(Arg409Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040787" "0" "30" "16" "1506166" "1506166" "subst" "0" "01804" "CLCN7_000068" "g.1506166G>A" "" "" "" "CLCN7(NM_001287.6):c.864C>T (p.(Phe288=))" "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 CLCN7 ## Count = 112 "{{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}}" "0000266831" "00005236" "10" "1170" "0" "1170" "0" "c.1170A>T" "r.(?)" "p.(Ala390=)" "" "0000266832" "00005236" "10" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Val418Met)" "" "0000273594" "00005236" "30" "1883" "7" "1883" "7" "c.1883+7C>T" "r.(=)" "p.(=)" "" "0000273595" "00005236" "30" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Thr226=)" "" "0000337242" "00005236" "10" "1884" "-16" "1884" "-16" "c.1884-16C>T" "r.(=)" "p.(=)" "" "0000337244" "00005236" "30" "739" "-20" "739" "-20" "c.739-20C>T" "r.(=)" "p.(=)" "" "0000337245" "00005236" "30" "675" "19" "675" "19" "c.675+19T>G" "r.(=)" "p.(=)" "" "0000340647" "00005236" "10" "1170" "0" "1170" "0" "c.1170A>T" "r.(?)" "p.(Ala390=)" "" "0000340917" "00005236" "10" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Pro42=)" "" "0000340956" "00005236" "10" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Ser232=)" "" "0000340964" "00005236" "30" "1452" "0" "1452" "0" "c.1452C>G" "r.(?)" "p.(Ser484=)" "" "0000345867" "00005236" "90" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Arg)" "" "0000348315" "00005236" "70" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Pro249Leu)" "" "0000487114" "00005236" "90" "2144" "0" "2144" "0" "c.2144A>G" "r.(?)" "p.(Tyr715Cys)" "" "0000487115" "00005236" "90" "2144" "0" "2144" "0" "c.2144A>G" "r.(?)" "p.(Tyr715Cys)" "" "0000556655" "00005236" "30" "6612" "0" "6612" "0" "c.*4194G>A" "r.(=)" "p.(=)" "" "0000556656" "00005236" "50" "6088" "0" "6088" "0" "c.*3670G>A" "r.(=)" "p.(=)" "" "0000556657" "00005236" "30" "5512" "0" "5512" "0" "c.*3094C>T" "r.(=)" "p.(=)" "" "0000556660" "00005236" "10" "2437" "0" "2437" "0" "c.*19A>G" "r.(=)" "p.(=)" "" "0000556661" "00005236" "30" "2403" "0" "2403" "0" "c.2403G>T" "r.(?)" "p.(Ser801=)" "" "0000556662" "00005236" "10" "2073" "16" "2073" "16" "c.2073+16C>T" "r.(=)" "p.(=)" "" "0000556663" "00005236" "10" "1961" "0" "1961" "0" "c.1961C>T" "r.(?)" "p.(Thr654Met)" "" "0000556665" "00005236" "10" "1798" "-8" "1798" "-8" "c.1798-8G>A" "r.(=)" "p.(=)" "" "0000556666" "00005236" "10" "1798" "-10" "1798" "-10" "c.1798-10C>T" "r.(=)" "p.(=)" "" "0000556667" "00005236" "10" "1797" "16" "1797" "16" "c.1797+16G>A" "r.(=)" "p.(=)" "" "0000556668" "00005236" "30" "1354" "-7" "1354" "-7" "c.1354-7C>T" "r.(=)" "p.(=)" "" "0000556669" "00005236" "10" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Val418Met)" "" "0000556670" "00005236" "10" "1245" "0" "1245" "0" "c.1245T>C" "r.(?)" "p.(Ile415=)" "" "0000556671" "00005236" "10" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Pro376=)" "" "0000556673" "00005236" "30" "917" "-18" "917" "-18" "c.917-18C>T" "r.(=)" "p.(=)" "" "0000556674" "00005236" "10" "900" "0" "900" "0" "c.900G>A" "r.(?)" "p.(Ala300=)" "" "0000556675" "00005236" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ala300Val)" "" "0000556676" "00005236" "10" "822" "17" "822" "17" "c.822+17T>C" "r.(=)" "p.(=)" "" "0000556677" "00005236" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Val238=)" "" "0000556678" "00005236" "10" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(His220=)" "" "0000556679" "00005236" "10" "485" "-10" "485" "-10" "c.485-10T>C" "r.(=)" "p.(=)" "" "0000556681" "00005236" "10" "-134" "0" "-134" "0" "c.-134G>C" "r.(?)" "p.(=)" "" "0000615706" "00005236" "30" "5503" "0" "5503" "0" "c.*3085C>T" "r.(=)" "p.(=)" "" "0000615707" "00005236" "70" "2274" "0" "2274" "0" "c.2274C>G" "r.(?)" "p.(Phe758Leu)" "" "0000615708" "00005236" "30" "2187" "0" "2187" "0" "c.2187C>G" "r.(?)" "p.(Asp729Glu)" "" "0000615709" "00005236" "50" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0000615710" "00005236" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000615711" "00005236" "30" "900" "0" "900" "0" "c.900G>A" "r.(?)" "p.(Ala300=)" "" "0000615712" "00005236" "50" "116" "0" "116" "0" "c.116G>T" "r.(?)" "p.(Gly39Val)" "" "0000623372" "00005236" "30" "1883" "7" "1883" "7" "c.1883+7C>T" "r.(=)" "p.(=)" "" "0000623374" "00005236" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Ser204=)" "" "0000623375" "00005236" "30" "351" "12" "351" "12" "c.351+12G>A" "r.(=)" "p.(=)" "" "0000649231" "00005236" "50" "696" "0" "696" "0" "c.696C>T" "r.(=)" "p.(=)" "" "0000657737" "00005236" "50" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(Gln777Arg)" "" "0000657738" "00005236" "30" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(Gln777Arg)" "" "0000680390" "00005236" "30" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791His)" "" "0000691938" "00005236" "30" "1755" "0" "1755" "0" "c.1755G>A" "r.(?)" "p.(Leu585=)" "" "0000691939" "00005236" "50" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000725447" "00005236" "30" "2074" "-5" "2074" "-5" "c.2074-5C>T" "r.spl?" "p.?" "" "0000725448" "00005236" "30" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Asn659=)" "" "0000725449" "00005236" "30" "1447" "8" "1447" "9" "c.1447+8_1447+9del" "r.(=)" "p.(=)" "" "0000725450" "00005236" "70" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Trp)" "" "0000725451" "00005236" "50" "521" "0" "523" "0" "c.521_523del" "r.(?)" "p.(Phe174del)" "" "0000729862" "00005236" "90" "739" "-18" "739" "-18" "c.739-18G>A" "r.(=)" "p.(=)" "" "0000760712" "00005236" "70" "922" "0" "922" "0" "c.922G>T" "r.(?)" "p.(Val308Phe)" "" "0000789921" "00005236" "70" "2416" "0" "2416" "0" "c.2416T>A" "r.(?)" "p.(*806Argext*58)" "" "0000807070" "00005236" "30" "4730" "0" "4730" "0" "c.*2312T>G" "r.(=)" "p.(=)" "" "0000807071" "00005236" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Ser434=)" "" "0000854282" "00005236" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Ala258=)" "" "0000864304" "00005236" "50" "2192" "0" "2192" "0" "c.2192G>T" "r.(?)" "p.(Arg731Leu)" "" "0000864305" "00005236" "30" "1883" "7" "1883" "7" "c.1883+7C>T" "r.(=)" "p.(=)" "" "0000864306" "00005236" "30" "134" "0" "134" "0" "c.134C>A" "r.(?)" "p.(Ala45Glu)" "" "0000864307" "00005236" "30" "124" "0" "124" "0" "c.124C>A" "r.(?)" "p.(Pro42Thr)" "" "0000874175" "00005236" "70" "2416" "0" "2416" "0" "c.2416T>A" "r.(?)" "p.(*806Argext*58)" "" "0000892534" "00005236" "30" "1617" "13" "1617" "13" "c.1617+13G>A" "r.(=)" "p.(=)" "" "0000892535" "00005236" "50" "1354" "-5" "1354" "-5" "c.1354-5C>G" "r.spl?" "p.?" "" "0000892537" "00005236" "30" "1098" "15" "1098" "15" "c.1098+15C>T" "r.(=)" "p.(=)" "" "0000892538" "00005236" "30" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Ile344Val)" "" "0000892539" "00005236" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Ser204=)" "" "0000892540" "00005236" "30" "285" "12" "285" "14" "c.285+12_285+14del" "r.(=)" "p.(=)" "" "0000892541" "00005236" "30" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50His)" "" "0000914464" "00005236" "30" "2014" "-16" "2014" "-16" "c.2014-16C>A" "r.(=)" "p.(=)" "" "0000914465" "00005236" "30" "921" "0" "921" "0" "c.921G>A" "r.(?)" "p.(Gly307=)" "" "0000914466" "00005236" "30" "917" "-17" "917" "-17" "c.917-17G>A" "r.(=)" "p.(=)" "" "0000914467" "00005236" "90" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Tyr99Cys)" "" "0000919621" "00005236" "90" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Gly292Glu)" "" "0000926127" "00005236" "70" "2355" "0" "2355" "0" "c.2355G>T" "r.(?)" "p.(Lys785Asn)" "" "0000926128" "00005236" "90" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Arg767Trp)" "" "0000926129" "00005236" "50" "1884" "-8" "1884" "-8" "c.1884-8T>G" "r.(=)" "p.(=)" "" "0000926130" "00005236" "70" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Pro376Leu)" "" "0000926131" "00005236" "70" "981" "3" "981" "3" "c.981+3A>C" "r.spl?" "p.?" "" "0000927499" "00005236" "70" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Cys)" "" "0000930502" "00005236" "30" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(=)" "" "0000930503" "00005236" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Trp)" "" "0000930504" "00005236" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Thr117Met)" "" "0000939931" "00005236" "10" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Val418Met)" "" "0000950510" "00005236" "30" "1154" "-4" "1154" "-4" "c.1154-4G>A" "r.spl?" "p.?" "" "0000968101" "00005236" "50" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Val244Met)" "" "0000981609" "00005236" "50" "1495" "0" "1497" "0" "c.1495_1497del" "r.(?)" "p.(Phe499del)" "" "0000981610" "00005236" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000981611" "00005236" "30" "917" "-18" "917" "-18" "c.917-18C>T" "r.(=)" "p.(=)" "" "0000981612" "00005236" "30" "739" "-120" "739" "-120" "c.739-120T>C" "r.(=)" "p.(=)" "" "0000985177" "00005236" "70" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Gln47*)" "1" "0000985178" "00005236" "70" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "9" "0001001894" "00005236" "50" "2414" "0" "2414" "0" "c.2414C>G" "r.(?)" "p.(Thr805Arg)" "" "0001001895" "00005236" "50" "2305" "0" "2305" "0" "c.2305C>G" "r.(?)" "p.(Leu769Val)" "" "0001001896" "00005236" "30" "2250" "0" "2250" "7" "c.2250_2250+7dup" "r.spl?" "p.?" "" "0001001897" "00005236" "30" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0001001898" "00005236" "50" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(Asp603Gly)" "" "0001001899" "00005236" "30" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Ser)" "" "0001001900" "00005236" "50" "1267" "0" "1267" "0" "c.1267G>A" "r.(?)" "p.(Val423Ile)" "" "0001001904" "00005236" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Leu)" "" "0001001905" "00005236" "30" "121" "0" "121" "0" "c.121G>C" "r.(?)" "p.(Gly41Arg)" "" "0001040783" "00005236" "30" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Gly700Ser)" "" "0001040785" "00005236" "30" "2014" "-5" "2014" "-5" "c.2014-5T>C" "r.spl?" "p.?" "" "0001040786" "00005236" "50" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Trp)" "" "0001040787" "00005236" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000241250" "0000487114" "0000241251" "0000487115" "0000292542" "0000649231" "0000332580" "0000729862" "0000360652" "0000760712" "0000377547" "0000789921" "0000416137" "0000874175" "0000451326" "0000985177" "0000451326" "0000985178"