### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLCN3) # 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}}" "CLCN3" "chloride channel, voltage-sensitive 3" "4" "q" "unknown" "NC_000004.11" "UD_136086262765" "" "https://www.LOVD.nl/CLCN3" "" "1" "2021" "1182" "600580" "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/CLCN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-31 14:28:49" "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}}" "00026023" "CLCN3" "transcript variant b" "002" "NM_001829.3" "" "NP_001820.2" "" "" "RefSeq select" "-559" "5647" "2457" "170541672" "170644338" "00006" "2025-10-31 14:26:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07194" "NEDHYBA" "neurodevelopmental disorder with hypotonia and brain abnormalities" "AD" "619512" "" "" "" "00006" "2025-10-31 14:25:37" "" "" "07195" "NEDSBA" "neurodevelopmental disorder with seizures and brain abnormalities" "AR" "619517" "" "" "" "00006" "2025-10-31 14:26:18" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CLCN3" "05611" "CLCN3" "07194" "CLCN3" "07195" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00466474" "" "" "" "1" "" "04614" "" "" "M" "no" "Spain" "" "0" "" "" "white" "patient" "00467815" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "Netherlands" "" "0" "" "" "Tyrkey" "Pat1" "00467816" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe" "Pat2" "00467817" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe" "Pat3" "00467818" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "adopted child" "F" "" "United States" "" "0" "" "" "Europe" "Pat4" "00467819" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "Metis;Europe" "Pat5" "00467820" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "Europe" "Pat6" "00467821" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "jew-Ashkenazi" "Pat7" "00467822" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "Pat8" "00467823" "" "" "" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Uruguay" "" "0" "" "" "" "Pat9" "00467824" "" "" "" "2" "" "00006" "{PMID:Duncan 2021:34186028}" "2-generation family, 2 affected brothers, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat10.1" "00467825" "" "" "00467824" "1" "" "00006" "{PMID:Duncan 2021:34186028}" "brother" "M" "" "Germany" "" "0" "" "" "" "Pat10.2" "00467826" "" "" "" "1" "" "00006" "{PMID:Nakashima 2023:36536096}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00467827" "" "" "" "1" "" "00006" "{PMID:Nakashima 2023:36536096}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "white" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00466474" "07194" "00467815" "05611" "00467816" "05611" "00467817" "05611" "00467818" "05611" "00467819" "05611" "00467820" "05611" "00467821" "05611" "00467822" "05611" "00467823" "05611" "00467824" "05611" "00467825" "05611" "00467826" "05611" "00467827" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07194, 07195 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000352968" "07194" "00466474" "04614" "Isolated (sporadic)" "01y" "dysmorphic facial features nonspecific, macrocephaly, hypotonia, global develoment delay; cerebral MRI not performed" "00y00m00d" "03y" "congenital" "" "" "" "NEDHYBA" "hypotonia, global develoment delay" "0000352969" "05611" "00467815" "00006" "Isolated (sporadic)" "16y" "see paper; ..., birth-40w; no failure to thrive; feeding problems; delayed speech; delayed gross motor development, walks independently; delayed fine motor development; mild-moderate intellectual disability (IQ55); no seizures; autism; no hypotonia; temper tantrums since puberty; no eye anomalies; no hearing impairment; dysmorphic features" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352970" "05611" "00467816" "00006" "Isolated (sporadic)" "5y" "see paper; ..., birth-39w; no failure to thrive; feeding problems; no speech; delayed gross motor development, 6y-walk; delayed fine motor development; severe intellectual disability (QS24); 29m-onset tonic clonic seizures; severe hypotonia; N; unilateral strabismus; no hearing impairment; dysmorphic features" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352971" "05611" "00467817" "00006" "Isolated (sporadic)" "17y" "see paper; ..., birth-39w+3; failure to thrive; feeding problems; no speech; delayed gross motor development, does not walk independently; delayed fine motor development; severe intellectual disability; 4y-onset myoclonic seizures, controlled by clobazam + oxcarbazepine; no autism; moderate hypotonia; normal behavior; bilateral partial optic atrophy, retinal dystrophy, nystagmus; no hearing impairment; no dysmorphic features; crytorchdism" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352972" "05611" "00467818" "00006" "Unknown" "10y" "see paper; ..., ; no failure to thrive; feeding problems; delayed speech; delayed gross motor development, walks independently; delayed fine motor development; mild intellectual disability (IQ71); no seizures; autism; mild hypotonia; hyperactive, OCD, anxiety, stereotypies; strabismus; unilateral hearing impairment due to hx of cholesteatoma; dysmorphic features; possible hydrocephalus at birth" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352973" "05611" "00467819" "00006" "Isolated (sporadic)" "5y" "see paper; ..., birth-41w+3; no failure to thrive; feeding problems; delayed speech; delayedgross motor development, walks independently with difficulty and AFOs; delayed fine motor development; global developmental delay; non-clinical seizures; no autism; moderate hypotonia; self- stimulatory actions when younger; strabismus, intermittent right exotropia; no hearing impairment; dysmorphic features" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352974" "05611" "00467820" "00006" "Isolated (sporadic)" "13y" "see paper; ..., birth-41w+2; failure to thrive; feeding problems; delayedspeech, 3y-regression; delayedgross motor development, walks independently; delayed fine motor development; profound intellectual disability; no seizures; autism; mild hypotonia; severe anxiety, self-injurious, intermittent explosive behavior; strabismus, hyperopia; mild sensorineural hearing loss; dysmorphic features" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352975" "05611" "00467821" "00006" "Isolated (sporadic)" "12y" "see paper; ..., birth-40w; no failure to thrive; no feeding problems; delayed speech; delayedgross motor development, walks independently; delayed fine motor development; mild-moderate intellectual disability; no seizures; no autism; moderate hypotonia; severe anxiety; anisometropia; no hearing impairment; dysmorphic features" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352976" "05611" "00467822" "00006" "Isolated (sporadic)" "23d" "see paper; ..., birth-39w6; 23d-deceased; failure to thrive; feeding problems; no seizures; no hypotonia; dysmorphic features; arthrogryposis multiplex congenita, hip dislocation" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352977" "05611" "00467823" "00006" "Isolated (sporadic)" "7y" "see paper; ..., birth-39w; failure to thrive; feeding problems; no speech; delayed gross motor development, sits supported, no craw, not walking; delayed fine motor development; severe intellectual disability; 6m-onset seizures, well controlled with Keppra; no autism; truncal hypotonia, nuchal hypotonia; normal behavior; esotropia; no hearing impairment; dysmorphic features; atrial septal defect, bilateral talipes equinovarus, bilateral renal pyelectasis, bilateral hand contractures, congenital radial head dislocation, hypoplastic/absent coccyx" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352978" "05611" "00467824" "00006" "Familial, autosomal recessive" "18m" "see paper; ..., birth-40w; no failure to thrive; no feeding problems; no speech; delayed gross motor development, does not walk independently; delayed fine motor development; global developmental delay; neonatal onset focal seizure, 3m-onset multifocal tonic seizures, myoclonic seizures; no autism; no hypotonia; severe restlessness; salt and pepper fundus pigmentation, nystagmus, no fixation; no hearing impairment; dysmorphic features" "" "" "" "" "" "" "NEDSBA" "neurodevelopmental disorder" "0000352979" "05611" "00467825" "00006" "Familial, autosomal recessive" "1y2m" "see paper; ..., birth-40w; 14m-deceased; no failure to thrive; feeding problems; no speech; delayed gross motor development, never walked independently; delayed fine motor development; global developmental delay; 3m-onset tonic seizures, myoclonic seizures; autism; no hypotonia, severe spasticity; normal behavior; salt and pepper fundus pigmentation, nystagmus, no fixation; no hearing impairment; dysmorphic features" "" "" "" "" "" "" "NEDSBA" "neurodevelopmental disorder" "0000352980" "05611" "00467826" "00006" "Isolated (sporadic)" "05y06m" "see paper; ..., 13wg-increased nuchal translucency, hypoplastic nasal bone; 25wg ventricular dilatation, callosal hypogenesis; 40wg-birth; MRI brain 19m-insular polymicrogyria, total agenesis corpus callosum, hypoplastic pons; optic nerve coloboma, visual impairment; 8m-focal seizures showing right hemibody tonic-clonic seizure; 10m-epileptic spasms in clusters; dysmorphism (prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissure, tented upper lip vermilion, short neck)" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" "0000352981" "05611" "00467827" "00006" "Isolated (sporadic)" "1y7" "see paper; ..., 29wg-placental abruption; 40wg-birth, required breathing assistance; 3d-MRI brain diffuse polymicrogyria, total agenesis corpus callosum, large frontal horns, hypoplastic pons, hypoplastic cerebellum, markedly decreased white matter volume, delayed myelination; 9m-optic nerve hypoplasia, coloboma; mild ptosis left eye, horizontal nystagmus, rotary nystagmus; laryngomalacia, mild choanal ; severe developmental delay, intellectual disability, severe hypotonia, poor sucking, poor swallowing reflexes; 17y-coo, smile, no speech/babble, never stand/walked" "" "" "" "" "" "" "NEDHYBA" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000468137" "00466474" "1" "04614" "04614" "2025-09-08 12:37:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000469481" "00467815" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469482" "00467816" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469483" "00467817" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469484" "00467818" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469485" "00467819" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469486" "00467820" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469487" "00467821" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469488" "00467822" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469489" "00467823" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469490" "00467824" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469491" "00467825" "1" "00006" "00006" "2025-10-31 17:49:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469492" "00467826" "1" "00006" "00006" "2025-10-31 19:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000469493" "00467827" "1" "00006" "00006" "2025-10-31 19:14:24" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 32 "{{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}}" "0000522030" "0" "50" "4" "170601294" "170601294" "subst" "0" "01943" "CLCN3_000001" "g.170601294A>G" "" "" "" "CLCN3(NM_173872.3):c.254A>G (p.Y85C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169680143A>G" "" "VUS" "" "0000522031" "0" "50" "4" "170611802" "170611802" "subst" "0" "01943" "CLCN3_000002" "g.170611802A>T" "" "" "" "CLCN3(NM_173872.3):c.728A>T (p.E243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169690651A>T" "" "VUS" "" "0000976210" "0" "50" "4" "170557210" "170557210" "subst" "0" "01804" "CLCN3_000003" "g.170557210A>G" "" "" "" "CLCN3(NM_001829.4):c.131A>G (p.(Asp44Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169636059A>G" "" "VUS" "" "0000976211" "0" "50" "4" "170601243" "170601243" "subst" "0" "01804" "CLCN3_000004" "g.170601243C>A" "" "" "" "CLCN3(NM_001829.3):c.203C>A (p.(Ser68Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169680092C>A" "" "VUS" "" "0000976212" "0" "50" "4" "170618496" "170618496" "subst" "4.06293E-6" "01804" "CLCN3_000005" "g.170618496C>T" "" "" "" "CLCN3(NM_001829.4):c.1174C>T (p.(Pro392Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169697345C>T" "" "VUS" "" "0000976213" "0" "50" "4" "170618781" "170618781" "subst" "1.62607E-5" "01804" "CLCN3_000006" "g.170618781A>G" "" "" "" "CLCN3(NM_001829.4):c.1459A>G (p.(Ile487Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169697630A>G" "" "VUS" "" "0000976214" "0" "50" "4" "170634292" "170634292" "subst" "6.50142E-5" "01804" "CLCN3_000007" "g.170634292A>G" "" "" "" "CLCN3(NM_001829.4):c.2212A>G (p.(Thr738Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169713141A>G" "" "VUS" "" "0000976215" "0" "30" "4" "170639230" "170639230" "subst" "0" "01804" "CLCN3_000008" "g.170639230A>G" "" "" "" "CLCN3(NM_001829.4):c.2367-1828A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169718079A>G" "" "likely benign" "" "0000994179" "0" "50" "4" "170618698" "170618698" "subst" "0" "02327" "CLCN3_000009" "g.170618698T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169697547T>A" "" "VUS" "" "0000994180" "0" "30" "4" "170634259" "170634259" "subst" "3.65815E-5" "01804" "CLCN3_000010" "g.170634259G>A" "" "" "" "CLCN3(NM_001829.3):c.2179G>A (p.(Val727Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169713108G>A" "" "likely benign" "" "0001034432" "0" "30" "4" "170552663" "170552663" "subst" "0" "01804" "CLCN3_000011" "g.170552663T>A" "" "" "" "CLCN3(NM_001829.4):c.-16-4401T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169631512T>A" "" "likely benign" "" "0001034433" "0" "50" "4" "170608858" "170608858" "subst" "0" "01804" "CLCN3_000012" "g.170608858A>G" "" "" "" "CLCN3(NM_001829.4):c.368A>G (p.(Tyr123Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169687707A>G" "" "VUS" "" "0001034434" "0" "30" "4" "170610195" "170610195" "subst" "0" "01804" "CLCN3_000013" "g.170610195G>C" "" "" "" "CLCN3(NM_001829.4):c.420G>C (p.(Gly140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169689044G>C" "" "likely benign" "" "0001034435" "0" "50" "4" "170613334" "170613334" "subst" "0" "01804" "CLCN3_000014" "g.170613334A>G" "" "" "" "CLCN3(NM_001829.4):c.799A>G (p.(Ile267Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169692183A>G" "" "VUS" "" "0001047780" "0" "70" "4" "170618382" "170618382" "subst" "0" "04614" "CLCN3_000015" "g.170618382T>G" "" "" "" "" "PM2 (Supporting+); PM5 (PMID: 36536096, Moderate++); PM6 Moderate++); PP3 (Strong++++)." "De novo" "-" "" "0" "" "" "g.169697231T>G" "" "likely pathogenic (dominant)" "ACMG" "0001049819" "0" "90" "4" "170601294" "170601294" "subst" "0" "00006" "CLCN3_000001" "g.170601294A>G" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169680143A>G" "" "pathogenic (dominant)" "" "0001049820" "0" "90" "4" "170613290" "170613290" "subst" "0" "00006" "CLCN3_000019" "g.170613290T>C" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169692139T>C" "" "pathogenic (dominant)" "" "0001049821" "0" "90" "4" "170616797" "170616797" "subst" "0" "00006" "CLCN3_000020" "g.170616797T>C" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169695646T>C" "" "pathogenic (dominant)" "" "0001049822" "0" "90" "4" "170618560" "170618560" "subst" "0" "00006" "CLCN3_000022" "g.170618560C>T" "" "{PMID:Duncan 2021:34186028}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.169697409C>T" "" "pathogenic (dominant)" "" "0001049823" "0" "90" "4" "170618679" "170618679" "subst" "0" "00006" "CLCN3_000023" "g.170618679A>C" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169697528A>C" "" "pathogenic (dominant)" "" "0001049824" "0" "90" "4" "170625294" "170625294" "subst" "0" "00006" "CLCN3_000025" "g.170625294C>T" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169704143C>T" "" "pathogenic (dominant)" "" "0001049825" "0" "90" "4" "170625294" "170625294" "subst" "0" "00006" "CLCN3_000025" "g.170625294C>T" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169704143C>T" "" "pathogenic (dominant)" "" "0001049826" "0" "90" "4" "170628088" "170628088" "subst" "0" "00006" "CLCN3_000026" "g.170628088T>C" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169706937T>C" "" "pathogenic (dominant)" "" "0001049827" "0" "90" "4" "170634395" "170634395" "subst" "0" "00006" "CLCN3_000028" "g.170634395T>C" "" "{PMID:Duncan 2021:34186028}" "" "" "" "De novo" "" "" "0" "" "" "g.169713244T>C" "" "pathogenic (dominant)" "" "0001049828" "3" "90" "4" "170608826" "170608829" "del" "0" "00006" "CLCN3_000018" "g.170608826_170608829del" "" "{PMID:Duncan 2021:34186028}" "" "" "" "Germline" "" "" "0" "" "" "g.169687675_169687678del" "" "pathogenic (dominant)" "" "0001049829" "3" "90" "4" "170608826" "170608829" "del" "0" "00006" "CLCN3_000018" "g.170608826_170608829del" "" "{PMID:Duncan 2021:34186028}" "" "" "" "Germline" "" "" "0" "" "" "g.169687675_169687678del" "" "pathogenic (dominant)" "" "0001049830" "0" "70" "4" "170616805" "170616805" "subst" "0" "00006" "CLCN3_000016" "g.170616805G>A" "" "{PMID:Nakashima 2023:36536096}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.169695654G>A" "" "likely pathogenic (dominant)" "ACMG" "0001049831" "0" "70" "4" "170616806" "170616806" "subst" "0" "00006" "CLCN3_000017" "g.170616806G>A" "" "{PMID:Nakashima 2023:36536096}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.169695655G>A" "" "likely pathogenic (dominant)" "ACMG" "0001051877" "0" "30" "4" "170618329" "170618331" "del" "0" "01804" "CLCN3_000021" "g.170618329_170618331del" "" "" "" "CLCN3(NM_001829.4):c.1018-11_1018-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051878" "0" "50" "4" "170618845" "170618845" "subst" "4.0808E-6" "01804" "CLCN3_000024" "g.170618845T>C" "" "" "" "CLCN3(NM_001829.4):c.1523T>C (p.(Ile508Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051879" "0" "30" "4" "170633193" "170633194" "del" "0" "01804" "CLCN3_000027" "g.170633193_170633194del" "" "" "" "CLCN3(NM_001829.4):c.2150-1037_2150-1036del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051880" "0" "50" "4" "170641097" "170641097" "subst" "0" "01804" "CLCN3_000029" "g.170641097G>T" "" "" "" "CLCN3(NM_173872.4):c.2482G>T (p.(Ala828Ser))" "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 CLCN3 ## Count = 32 "{{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}}" "0000522030" "00026023" "50" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Tyr85Cys)" "" "0000522031" "00026023" "50" "728" "0" "728" "0" "c.728A>T" "r.(?)" "p.(Glu243Val)" "" "0000976210" "00026023" "50" "131" "0" "131" "0" "c.131A>G" "r.(?)" "p.(Asp44Gly)" "" "0000976211" "00026023" "50" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Ser68Tyr)" "" "0000976212" "00026023" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "0000976213" "00026023" "50" "1459" "0" "1459" "0" "c.1459A>G" "r.(?)" "p.(Ile487Val)" "" "0000976214" "00026023" "50" "2212" "0" "2212" "0" "c.2212A>G" "r.(?)" "p.(Thr738Ala)" "" "0000976215" "00026023" "30" "2367" "-1828" "2367" "-1828" "c.2367-1828A>G" "r.(=)" "p.(=)" "" "0000994179" "00026023" "50" "1376" "0" "1376" "0" "c.1376T>A" "r.(?)" "p.(Leu459His)" "" "0000994180" "00026023" "30" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Val727Ile)" "" "0001034432" "00026023" "30" "-16" "-4401" "-16" "-4401" "c.-16-4401T>A" "r.(=)" "p.(=)" "" "0001034433" "00026023" "50" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Tyr123Cys)" "" "0001034434" "00026023" "30" "420" "0" "420" "0" "c.420G>C" "r.(?)" "p.(=)" "" "0001034435" "00026023" "50" "799" "0" "799" "0" "c.799A>G" "r.(?)" "p.(Ile267Val)" "" "0001047780" "00026023" "70" "1060" "0" "1060" "0" "c.1060T>G" "r.(?)" "p.(Phe354Val)" "" "0001049819" "00026023" "90" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Tyr85Cys)" "" "0001049820" "00026023" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Ile252Thr)" "" "0001049821" "00026023" "90" "971" "0" "971" "0" "c.971T>C" "r.(?)" "p.(Val324Ala)" "" "0001049822" "00026023" "90" "1238" "0" "1238" "0" "c.1238C>T" "r.(?)" "p.(Ala413Val)" "" "0001049823" "00026023" "90" "1357" "0" "1357" "0" "c.1357A>C" "r.(?)" "p.(Ser453Arg)" "" "0001049824" "00026023" "90" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Thr570Ile)" "" "0001049825" "00026023" "90" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Thr570Ile)" "" "0001049826" "00026023" "90" "1820" "0" "1820" "0" "c.1820T>C" "r.(?)" "p.(Ile607Thr)" "" "0001049827" "00026023" "90" "2315" "0" "2315" "0" "c.2315T>C" "r.(?)" "p.(Val772Ala)" "" "0001049828" "00026023" "90" "336" "0" "339" "0" "c.336_339del" "r.(?)" "p.(Lys112AsnfsTer6)" "" "0001049829" "00026023" "90" "336" "0" "339" "0" "c.336_339del" "r.(?)" "p.(Lys112AsnfsTer6)" "" "0001049830" "00026023" "70" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Gly327Ser)" "" "0001049831" "00026023" "70" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Gly327Asp)" "" "0001051877" "00026023" "30" "1018" "-11" "1018" "-9" "c.1018-11_1018-9del" "r.(=)" "p.(=)" "" "0001051878" "00026023" "50" "1523" "0" "1523" "0" "c.1523T>C" "r.(?)" "p.(Ile508Thr)" "" "0001051879" "00026023" "30" "2150" "-1037" "2150" "-1036" "c.2150-1037_2150-1036del" "r.(=)" "p.(=)" "" "0001051880" "00026023" "50" "2406" "0" "2406" "0" "c.2406G>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000468137" "0001047780" "0000469481" "0001049819" "0000469482" "0001049820" "0000469483" "0001049821" "0000469484" "0001049822" "0000469485" "0001049823" "0000469486" "0001049824" "0000469487" "0001049825" "0000469488" "0001049826" "0000469489" "0001049827" "0000469490" "0001049828" "0000469491" "0001049829" "0000469492" "0001049830" "0000469493" "0001049831"