### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GCM2) # 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}}" "GCM2" "glial cells missing homolog 2 (Drosophila)" "6" "p24.2" "unknown" "NG_008970.1" "UD_132118368353" "" "http://www.LOVD.nl/GCM2" "" "1" "4198" "9247" "603716" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GCM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-12 16:53:46" "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}}" "00008414" "GCM2" "glial cells missing homolog 2 (Drosophila)" "001" "NM_004752.3" "" "NP_004743.1" "" "" "" "-72" "2293" "1521" "10882098" "10873456" "" "0000-00-00 00:00:00" "" "" ## 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" "00892" "FIH1" "hypoparathyroidism, familial isolated, type 1 (FIH)" "AD;AR" "146200" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06698" "HRPT4" "Hyperparathyroidism 4" "AD" "617343" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06730" "FIH2" "Hypoparathyroidism, familial isolated 2" "" "618883" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GCM2" "00892" "GCM2" "06698" "GCM2" "06730" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00419662" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20050" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00419662" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00892, 06698, 06730 ## Count = 1 "{{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}}" "0000310943" "00198" "00419662" "02300" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000420966" "00419662" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;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 = 19 "{{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}}" "0000526629" "0" "50" "6" "10877387" "10877387" "subst" "0" "02327" "GCM2_000001" "g.10877387C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10877154C>T" "" "VUS" "" "0000526630" "0" "70" "6" "10877516" "10877516" "subst" "0" "02327" "GCM2_000002" "g.10877516C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10877283C>A" "" "likely pathogenic" "" "0000609898" "0" "50" "6" "10874577" "10874577" "subst" "0" "01943" "GCM2_000003" "g.10874577T>G" "" "" "" "GCM2(NM_004752.3):c.1172A>C (p.Y391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10874344T>G" "" "VUS" "" "0000609899" "0" "90" "6" "10877601" "10877601" "subst" "8.12301E-6" "02327" "GCM2_000004" "g.10877601G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10877368G>A" "" "pathogenic" "" "0000720620" "0" "70" "6" "10874278" "10874281" "del" "0" "02329" "GCM2_000005" "g.10874278_10874281del" "" "" "" "GCM2(NM_004752.4):c.1469_1472delGTTA (p.S490Tfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000881325" "0" "70" "6" "10882026" "10882026" "subst" "0" "02300" "GCM2_000006" "g.10882026T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.10881793T>C" "" "likely pathogenic (dominant)" "ACMG" "0000886980" "0" "10" "6" "10874572" "10874580" "dup" "0" "02326" "GCM2_000007" "g.10874572_10874580dup" "" "" "" "GCM2(NM_004752.4):c.1177_1185dupGCCTACCAG (p.A393_Q395dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924403" "0" "50" "6" "10877506" "10877506" "subst" "0" "02329" "GCM2_000008" "g.10877506G>T" "" "" "" "GCM2(NM_004752.4):c.210C>A (p.N70K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976916" "0" "50" "6" "10874568" "10874568" "subst" "0.00062131" "01804" "GCM2_000009" "g.10874568T>G" "" "" "" "GCM2(NM_004752.4):c.1181A>C (p.(Tyr394Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976917" "0" "30" "6" "10874689" "10874689" "subst" "0.00316337" "01804" "GCM2_000010" "g.10874689T>C" "" "" "" "GCM2(NM_004752.4):c.1060A>G (p.(Met354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976918" "0" "30" "6" "10877559" "10877559" "subst" "0.00064568" "01804" "GCM2_000011" "g.10877559C>T" "" "" "" "GCM2(NM_004752.4):c.157G>A (p.(Asp53Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035396" "0" "50" "6" "10877397" "10877397" "subst" "0.000548439" "01804" "GCM2_000012" "g.10877397C>T" "" "" "" "GCM2(NM_004752.4):c.319G>A (p.(Asp107Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035397" "0" "50" "6" "10877596" "10877596" "subst" "0" "01804" "GCM2_000013" "g.10877596C>A" "" "" "" "GCM2(NM_004752.4):c.120G>T (p.(Glu40Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047262" "0" "10" "6" "10874905" "10874905" "subst" "0.00907533" "03779" "GCM2_000014" "g.10874905A>C" "" "" "" "" "" "Unknown" "" "rs61734277" "0" "" "" "" "" "benign" "" "0001048003" "0" "10" "6" "10876872" "10876872" "subst" "0" "03779" "GCM2_000015" "g.10876872A>C" "" "" "" "" "" "Unknown" "" "rs77553138" "0" "" "" "" "" "benign" "" "0001048004" "0" "10" "6" "10881787" "10881806" "del" "0" "03779" "GCM2_000016" "g.10881787_10881806del" "" "" "" "" "" "Unknown" "" "rs879055375" "0" "" "" "" "" "benign" "" "0001048655" "0" "10" "6" "10874852" "10874852" "subst" "0.00765414" "03779" "GCM2_000017" "g.10874852A>G" "" "" "" "" "" "Unknown" "" "rs73440491" "0" "" "" "" "" "benign" "" "0001048995" "0" "30" "6" "10881833" "10881840" "del" "0" "03779" "GCM2_000018" "g.10881833_10881840del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001052258" "0" "50" "6" "10874583" "10874583" "subst" "0" "01804" "GCM2_000019" "g.10874583A>G" "" "" "" "GCM2(NM_004752.4):c.1166T>C (p.(Val389Ala))" "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 GCM2 ## Count = 19 "{{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}}" "0000526629" "00008414" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000526630" "00008414" "70" "200" "0" "200" "0" "c.200G>T" "r.(?)" "p.(Arg67Leu)" "" "0000609898" "00008414" "50" "1172" "0" "1172" "0" "c.1172A>C" "r.(?)" "p.(Tyr391Ser)" "" "0000609899" "00008414" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Ter)" "" "0000720620" "00008414" "70" "1469" "0" "1472" "0" "c.1469_1472del" "r.(?)" "p.(Ser490Thrfs*40)" "" "0000881325" "00008414" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000886980" "00008414" "10" "1177" "0" "1185" "0" "c.1177_1185dup" "r.(?)" "p.(Ala393_Gln395dup)" "" "0000924403" "00008414" "50" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(Asn70Lys)" "" "0000976916" "00008414" "50" "1181" "0" "1181" "0" "c.1181A>C" "r.(?)" "p.(Tyr394Ser)" "" "0000976917" "00008414" "30" "1060" "0" "1060" "0" "c.1060A>G" "r.(?)" "p.(Met354Val)" "" "0000976918" "00008414" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Asp53Asn)" "" "0001035396" "00008414" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Asp107Asn)" "" "0001035397" "00008414" "50" "120" "0" "120" "0" "c.120G>T" "r.(?)" "p.(Glu40Asp)" "" "0001047262" "00008414" "10" "844" "0" "844" "0" "c.844T>G" "r.(?)" "p.(Tyr282Asp)" "" "0001048003" "00008414" "10" "344" "-82" "344" "-82" "c.344-82T>G" "r.(?)" "p.(?)" "" "0001048004" "00008414" "10" "90" "133" "90" "152" "c.90+133_90+152del" "r.(?)" "p.(?)" "" "0001048655" "00008414" "10" "897" "0" "897" "0" "c.897T>C" "r.(?)" "p.(Pro299=)" "" "0001048995" "00008414" "30" "90" "142" "90" "149" "c.90+142_90+149del" "r.(?)" "p.(?)" "" "0001052258" "00008414" "50" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Val389Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000420966" "0000881325"