### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLDN) # 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}}" "GLDN" "gliomedin" "15" "q15.3" "unknown" "NG_054933.1" "UD_132319912011" "" "https://www.LOVD.nl/GLDN" "" "1" "29514" "342035" "608603" "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/GLDN_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-06-21 12:29:11" "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}}" "00001060" "GLDN" "gliomedin" "001" "NM_181789.2" "" "NP_861454.2" "" "" "" "-169" "4915" "1656" "51633713" "51700210" "00000" "2012-09-13 13:10:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "05286" "LCCS11" "contraction, lethal, congenital syndrome, type 11 (LCCS-11)" "AR" "617194" "" "" "" "00006" "2017-06-21 13:42:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GLDN" "05286" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00105215" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_1" "00105216" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_2" "00105217" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_3" "00105218" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_4" "00105219" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_5" "00105220" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_6" "00105221" "" "" "" "1" "" "02043" "Manuscript in submission" "" "" "" "" "" "0" "" "" "" "Patient_8" "00105820" "" "" "" "2" "" "00006" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}" "2-generation family, affected male/female fetuses, unaffected heterozygous carrier parents" "F;M" "no" "France" "<0d" "0" "" "" "" "22865819-Fam1" "00105821" "" "" "" "1" "" "00006" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}" "2-generation family, affected fetus, unaffected heterozygous carrier parents" "M" "yes" "France" "<0d" "0" "" "" "" "22865819-Fam2" "00105822" "" "" "" "2" "" "00006" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}" "2-generation family, affected male fetuses, unaffected heterozygous carrier parents" "M" "no" "France" "<0d" "0" "" "" "" "22865819-Fam3" "00105823" "" "" "" "1" "" "00006" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}" "2-generation family, affected female fetus, unaffected heterozygous carrier parents" "F" "yes" "France" "<0d" "0" "" "" "" "22865819-Fam4" "00307179" "" "" "" "2" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "family, 2 affected siblings" "" "" "Australia" "" "0" "" "" "" "D12-950" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00105215" "05286" "00105216" "05286" "00105217" "05286" "00105218" "05286" "00105219" "05286" "00105220" "05286" "00105221" "05286" "00105820" "00198" "00105821" "00198" "00105822" "00198" "00105823" "00198" "00307179" "01666" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01666, 05286 ## Count = 14 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000083112" "05286" "00105215" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083113" "05286" "00105216" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083114" "05286" "00105217" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083115" "05286" "00105218" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083116" "05286" "00105219" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083117" "05286" "00105220" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083118" "05286" "00105221" "02043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083716" "00198" "00105820" "00006" "Familial, autosomal recessive" "" "see paper; …, arthrogryposis multiplex congenita" "<0d" "" "" "" "" "" "" "" "" "" "" "0000083717" "00198" "00105821" "00006" "Familial, autosomal recessive" "" "see paper; …, arthrogryposis multiplex congenita" "<0d" "" "" "" "" "" "" "" "" "" "" "0000083718" "00198" "00105822" "00006" "Familial, autosomal recessive" "" "see paper; …, arthrogryposis multiplex congenita" "<0d" "" "" "" "" "" "" "" "" "" "" "0000083719" "00198" "00105823" "00006" "Familial, autosomal recessive" "" "see paper; …, arthrogryposis multiplex congenita" "<0d" "" "" "" "" "" "" "" "" "" "" "0000232984" "01666" "00307179" "00534" "Familial, autosomal recessive" "" "fetal akinesia sequence; decreased fetal movement; arthrogryposis; multiplex congenita hydrops fetalis; pterygium; hypoplastic heart; pulmonary hypoplasia; skeletal muscle hypertrophy; high palate" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000105688" "00105215" "1" "02043" "02043" "2017-06-20 16:19:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000105689" "00105216" "1" "02043" "02043" "2017-06-20 16:29:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000105690" "00105217" "1" "02043" "02043" "2017-06-20 16:41:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000105691" "00105218" "1" "02043" "02043" "2017-06-20 17:13:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000105692" "00105219" "1" "02043" "02043" "2017-06-20 17:17:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000105693" "00105220" "1" "02043" "02043" "2017-06-20 17:26:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000105694" "00105221" "1" "02043" "02043" "2017-06-20 17:30:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000106291" "00105820" "1" "00006" "00006" "2017-06-24 17:24:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000106292" "00105821" "1" "00006" "00006" "2017-06-24 17:24:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000106293" "00105822" "1" "00006" "00006" "2017-06-24 17:24:56" "00006" "2017-06-24 18:32:06" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000106294" "00105823" "1" "00006" "00006" "2017-06-24 17:24:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308321" "00307179" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000106291" "GLDN" "0000106292" "GLDN" "0000106293" "GLDN" "0000106294" "GLDN" "0000308321" "GLDN" ## 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 = 34 "{{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}}" "0000005462" "3" "50" "15" "51643028" "51643028" "subst" "0" "00037" "GLDN_000004" "g.51643028A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51350831A>G" "" "VUS" "" "0000005463" "3" "50" "15" "51643124" "51643124" "subst" "0" "00037" "GLDN_000003" "g.51643124G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51350927G>C" "" "VUS" "" "0000005464" "3" "50" "15" "51643449" "51643449" "subst" "0" "00037" "GLDN_000001" "g.51643449C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51351252C>G" "" "VUS" "" "0000013408" "0" "50" "15" "51643449" "51643449" "subst" "0" "00037" "GLDN_000001" "g.51643449C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51351252C>G" "" "VUS" "" "0000171141" "21" "90" "15" "51692595" "51692598" "del" "0" "02043" "GLDN_000006" "g.51692595_51692598del" "" "Manuscript in submission" "" "" "" "Germline" "yes" "" "" "" "" "g.51400398_51400401del" "" "pathogenic" "" "0000171142" "21" "90" "15" "51692595" "51692598" "del" "0" "02043" "GLDN_000006" "g.51692595_51692598del" "" "Manuscript in submission" "" "" "" "Germline" "yes" "" "" "" "" "g.51400398_51400401del" "" "pathogenic" "" "0000171143" "11" "70" "15" "51696731" "51696731" "subst" "0" "02043" "GLDN_000007" "g.51696731G>C" "" "Manuscript in submission" "" "" "" "Germline" "yes" "" "" "" "" "g.51404534G>C" "" "likely pathogenic" "" "0000171144" "11" "70" "15" "51696731" "51696731" "subst" "0" "02043" "GLDN_000007" "g.51696731G>C" "" "Manuscript in submission" "" "" "" "Germline" "yes" "" "" "" "" "g.51404534G>C" "" "likely pathogenic" "" "0000171145" "11" "70" "15" "51696731" "51696731" "subst" "0" "02043" "GLDN_000007" "g.51696731G>C" "" "Manuscript in submission" "" "" "" "Germline" "yes" "" "" "" "" "g.51404534G>C" "" "likely pathogenic" "" "0000171146" "21" "90" "15" "51692595" "51692598" "del" "0" "02043" "GLDN_000006" "g.51692595_51692598del" "" "Manuscript in submission" "" "" "" "Germline" "yes" "" "" "" "" "g.51400398_51400401del" "" "pathogenic" "" "0000171147" "3" "90" "15" "51696600" "51696600" "subst" "1.62493E-5" "02043" "GLDN_000002" "g.51696600G>A" "" "Manuscript in submission" "" "" "" "Germline" "" "" "" "" "" "g.51404403G>A" "" "pathogenic" "" "0000171148" "3" "90" "15" "51696600" "51696600" "subst" "1.62493E-5" "02043" "GLDN_000002" "g.51696600G>A" "" "Manuscript in submission" "" "" "" "Germline" "" "" "" "" "" "g.51404403G>A" "" "pathogenic" "" "0000171149" "3" "90" "15" "51696600" "51696600" "subst" "1.62493E-5" "02043" "GLDN_000002" "g.51696600G>A" "" "Manuscript in submission" "" "" "" "Germline" "" "" "" "" "" "g.51404403G>A" "" "pathogenic" "" "0000171150" "0" "70" "15" "51693940" "51693940" "subst" "4.09329E-5" "02043" "GLDN_000005" "g.51693940G>A" "" "Manuscript in submission" "" "" "" "Germline" "" "" "0" "" "" "g.51401743G>A" "" "likely pathogenic" "" "0000171151" "0" "70" "15" "51696723" "51696723" "subst" "2.43813E-5" "02043" "GLDN_000008" "g.51696723C>A" "" "Manuscript in submission" "" "" "" "Germline" "" "" "" "" "" "g.51404526C>A" "" "likely pathogenic" "" "0000171887" "11" "90" "15" "51689736" "51689736" "del" "0" "00006" "GLDN_000009" "g.51689736del" "" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}, {OMIM608603:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.51397539del" "" "pathogenic" "" "0000171888" "3" "90" "15" "51633976" "51633976" "subst" "1.07875E-5" "00006" "GLDN_000010" "g.51633976C>A" "" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}, {OMIM608603:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.51341779C>A" "" "pathogenic" "" "0000171889" "11" "90" "15" "51696535" "51696535" "subst" "0" "00006" "GLDN_000011" "g.51696535C>T" "" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}, {OMIM608603:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.51404338C>T" "" "pathogenic" "" "0000171890" "3" "90" "15" "51696730" "51696730" "subst" "1.21905E-5" "00006" "GLDN_000012" "g.51696730C>T" "" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}, {OMIM608603:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.51404533C>T" "" "pathogenic" "" "0000171891" "21" "90" "15" "51696718" "51696718" "subst" "4.06388E-6" "00006" "GLDN_000013" "g.51696718G>C" "" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}, {OMIM608603:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.51404521G>C" "" "pathogenic" "" "0000171892" "21" "90" "15" "51676090" "51676090" "subst" "0" "00006" "GLDN_000014" "g.51676090G>A" "" "{PMID:Maluenda 2016:27616481}, {DOI:Maluenda 2016:10.1016/j.ajhg.2016.07.021}, {OMIM608603:0005}" "" "" "no RNA transcript detected" "Germline" "" "" "0" "" "" "g.51383893G>A" "" "pathogenic" "" "0000338361" "0" "50" "15" "51630690" "51630690" "subst" "0" "02327" "CYP19A1_000010" "g.51630690A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51338493A>G" "" "VUS" "" "0000554757" "0" "30" "15" "51689763" "51689763" "subst" "0.00167485" "01804" "GLDN_000016" "g.51689763G>A" "" "" "" "GLDN(NM_181789.2):c.785G>A (p.(Arg262Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51397566G>A" "" "likely benign" "" "0000554758" "0" "30" "15" "51692419" "51692419" "subst" "0.00160402" "01804" "GLDN_000017" "g.51692419C>T" "" "" "" "GLDN(NM_181789.2):c.848C>T (p.(Thr283Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51400222C>T" "" "likely benign" "" "0000554759" "0" "30" "15" "51693813" "51693813" "subst" "0.0169439" "01804" "GLDN_000018" "g.51693813G>A" "" "" "" "GLDN(NM_181789.2):c.1051G>A (p.(Asp351Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51401616G>A" "" "likely benign" "" "0000554760" "0" "30" "15" "51696616" "51696616" "subst" "1.21859E-5" "01804" "GLDN_000019" "g.51696616A>G" "" "" "" "GLDN(NM_181789.2):c.1321A>G (p.(Ser441Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51404419A>G" "" "likely benign" "" "0000675279" "1" "70" "15" "51633940" "51633940" "subst" "0" "00534" "GLDN_000020" "g.51633940T>C" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.51341743T>C" "" "likely pathogenic (recessive)" "ACMG" "0000675349" "2" "70" "15" "51634245" "51634245" "subst" "0" "00534" "GLDN_000021" "g.51634245G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.51342048G>A" "" "likely pathogenic (recessive)" "ACMG" "0000892143" "0" "70" "15" "51693940" "51693940" "subst" "4.09329E-5" "02325" "GLDN_000005" "g.51693940G>A" "" "" "" "GLDN(NM_181789.4):c.1178G>A (p.R393K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040427" "0" "50" "15" "51669646" "51669646" "subst" "4.0701E-6" "01804" "GLDN_000022" "g.51669646A>T" "" "" "" "GLDN(NM_181789.4):c.364A>T (p.(Ile122Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040428" "0" "50" "15" "51676014" "51676014" "subst" "0.000338427" "01804" "GLDN_000023" "g.51676014A>G" "" "" "" "GLDN(NM_181789.4):c.466A>G (p.(Asn156Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040429" "0" "50" "15" "51692470" "51692470" "subst" "0" "01804" "GLDN_000024" "g.51692470C>T" "" "" "" "GLDN(NM_181789.4):c.899C>T (p.(Ala300Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040430" "0" "50" "15" "51696500" "51696500" "subst" "0" "01804" "GLDN_000025" "g.51696500A>C" "" "" "" "GLDN(NM_181789.4):c.1205A>C (p.(Gln402Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055129" "0" "50" "15" "51696731" "51696731" "subst" "0" "01804" "GLDN_000026" "g.51696731G>T" "" "" "" "GLDN(NM_181789.4):c.1436G>T (p.(Arg479Leu))" "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 GLDN ## Count = 34 "{{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}}" "0000005462" "00001060" "50" "363" "8784" "363" "8784" "c.363+8784A>G" "r.(=)" "p.(=)" "1i" "0000005463" "00001060" "50" "363" "8880" "363" "8880" "c.363+8880G>C" "r.(=)" "p.(=)" "1i" "0000005464" "00001060" "50" "363" "9205" "363" "9205" "c.363+9205C>G" "r.(=)" "p.(=)" "1i" "0000013408" "00001060" "50" "363" "9205" "363" "9205" "c.363+9205C>G" "r.(=)" "p.(=)" "1i" "0000171141" "00001060" "90" "927" "0" "930" "0" "c.927_930del" "r.(?)" "p.(Asn309Lysfs*5)" "8" "0000171142" "00001060" "90" "927" "0" "930" "0" "c.927_930del" "r.(?)" "p.(Asn309Lysfs*5)" "8" "0000171143" "00001060" "70" "1436" "0" "1436" "0" "c.1436G>C" "r.(?)" "p.(Arg479Pro)" "10" "0000171144" "00001060" "70" "1436" "0" "1436" "0" "c.1436G>C" "r.(?)" "p.(Arg479Pro)" "10" "0000171145" "00001060" "70" "1436" "0" "1436" "0" "c.1436G>C" "r.(?)" "p.(Arg479Pro)" "10" "0000171146" "00001060" "90" "927" "0" "930" "0" "c.927_930del" "r.(?)" "p.(Asn309Lysfs*5)" "8" "0000171147" "00001060" "90" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Trp435*)" "10" "0000171148" "00001060" "90" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Trp435*)" "10" "0000171149" "00001060" "90" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Trp435*)" "10" "0000171150" "00001060" "70" "1178" "0" "1178" "0" "c.1178G>A" "r.(spl?)" "p.(Arg393Lys)" "9" "0000171151" "00001060" "70" "1428" "0" "1428" "0" "c.1428C>A" "r.(?)" "p.(Phe476Leu)" "10" "0000171887" "00001060" "90" "758" "0" "758" "0" "c.758del" "r.(?)" "p.(Pro253Leufs*51)" "6" "0000171888" "00001060" "90" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ala32Glu)" "1" "0000171889" "00001060" "90" "1240" "0" "1240" "0" "c.1240C>T" "r.1240c>u" "p.Arg414*" "10" "0000171890" "00001060" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479*)" "10" "0000171891" "00001060" "90" "1423" "0" "1423" "0" "c.1423G>C" "r.(?)" "p.(Ala475Pro)" "10" "0000171892" "00001060" "90" "541" "1" "541" "1" "c.541+1G>A" "r.0" "p.0" "4i" "0000338361" "00001060" "50" "-3192" "0" "-3192" "0" "c.-3192A>G" "r.(?)" "p.(=)" "" "0000554757" "00001060" "30" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000554758" "00001060" "30" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Thr283Ile)" "" "0000554759" "00001060" "30" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Asp351Asn)" "" "0000554760" "00001060" "30" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Ser441Gly)" "" "0000675279" "00001060" "70" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Leu20Pro)" "" "0000675349" "00001060" "70" "363" "1" "363" "1" "c.363+1G>A" "r.spl" "p.?" "" "0000892143" "00001060" "70" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Lys)" "" "0001040427" "00001060" "50" "364" "0" "364" "0" "c.364A>T" "r.(?)" "p.(Ile122Phe)" "" "0001040428" "00001060" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Asn156Asp)" "" "0001040429" "00001060" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ala300Val)" "" "0001040430" "00001060" "50" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "" "0001055129" "00001060" "50" "1436" "0" "1436" "0" "c.1436G>T" "r.(?)" "p.(Arg479Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005462" "0000000209" "0000005463" "0000000209" "0000005464" "0000000210" "0000013408" "0000105688" "0000171141" "0000105688" "0000171144" "0000105689" "0000171142" "0000105689" "0000171143" "0000105690" "0000171145" "0000105690" "0000171146" "0000105691" "0000171147" "0000105692" "0000171148" "0000105693" "0000171149" "0000105694" "0000171150" "0000105694" "0000171151" "0000106291" "0000171887" "0000106291" "0000171891" "0000106292" "0000171888" "0000106293" "0000171889" "0000106293" "0000171892" "0000106294" "0000171890" "0000308321" "0000675279" "0000308321" "0000675349"