### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = G6PC) # 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}}" "G6PC" "glucose-6-phosphatase, catalytic subunit" "17" "q21" "unknown" "NG_011808.1" "UD_134408605275" "" "https://www.LOVD.nl/G6PC" "" "1" "4056" "2538" "613742" "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/G6PC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-03-02 21:49:40" "00000" "2022-05-09 16:01:56" ## 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}}" "00008247" "G6PC" "transcript variant 1" "001" "NM_000151.3" "" "NP_000142.2" "" "" "" "-80" "4081" "1074" "41052814" "41066450" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01819" "GSD1A" "storage disease, glycogen, type 1A (GSD-1A)" "AR" "232200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01820" "GSD1B" "glycogen storage disease, type Ib (GSD1B)" "AR" "232220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-02-03 14:20:19" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "04217" "WEST" "West syndrome (WEST, epileptic encephalopathy, early infantile)" "" "" "" "" "" "00006" "2015-03-06 11:05:39" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "G6PC" "01819" ## 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}}" "00103995" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-049A" "00104004" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-125A" "00183458" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "" "Italy" "" "0" "" "" "" "Patient XX" "00245845" "" "" "" "1" "" "02976" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00245846" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00245847" "" "" "" "1" "" "00000" "" "liver biopsy G6Pase activity undetectable" "" "" "United States" "" "0" "" "" "" "" "00245848" "" "" "" "1" "" "00000" "" "" "" "" "United States" "" "0" "" "" "" "" "00291712" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291713" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291714" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00329073" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P1" "00329074" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P2" "00329089" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P22" "00395953" "" "" "" "1" "" "00006" "{PMID:Razaq 2021:34869784}" "" "M" "no" "United States" "" "0" "" "" "Middle East;Hispanic" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00103995" "03381" "00104004" "03381" "00183458" "00244" "00245845" "01820" "00245846" "00000" "00245847" "01819" "00245848" "01819" "00291712" "00198" "00291713" "00198" "00291714" "00198" "00329073" "04216" "00329074" "04216" "00329089" "04216" "00395953" "04217" "00395953" "05378" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 01819, 01820, 03381, 04216, 04217, 05378 ## 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}}" "0000081929" "03381" "00103995" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081938" "03381" "00104004" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000171338" "00244" "00183458" "00006" "Unknown" "" "onset adult, hyperCKemia, proximal muscle weakness, elevated CPK (7x), EMG normal, biopsy myopathic features" "" "" "hyperCKemia" "" "" "" "" "" "" "myopathy" "" "0000247270" "04216" "00329073" "00000" "Familial, autosomal recessive" "6m" "see paper; ..., hypoglycemia, hepatosplenomegaly" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247271" "04216" "00329074" "00000" "Familial, autosomal recessive" "7y" "see paper; ..., hypoglycemia, mild hepatosplenomegaly" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247286" "04216" "00329089" "00000" "Familial, autosomal recessive" "1y" "see paper; ..., GSD Ia, hypoglycemia, lactic acidosis, hepatomegaly" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000289115" "05378" "00395953" "00006" "Familial, autosomal recessive" "00y22m" "4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m-" "00y04m" "" "epileptic spasms" "" "" "" "" "" "" "" "" ## 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}}" "0000104466" "00103995" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104475" "00104004" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000184426" "00183458" "1" "02947" "02947" "2018-10-25 15:41:51" "" "" "arrayCGH" "DNA" "" "" "0000246957" "00245845" "1" "02976" "02976" "2012-01-21 12:21:50" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000246958" "00245846" "1" "00000" "00006" "2012-01-21 12:21:50" "" "" "SEQ" "DNA" "" "" "0000246959" "00245847" "1" "00000" "00006" "2012-01-21 12:43:46" "" "" "SEQ" "DNA" "" "" "0000246960" "00245848" "1" "00000" "00006" "2012-01-21 12:43:46" "" "" "SEQ" "DNA" "" "" "0000292880" "00291712" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292881" "00291713" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292882" "00291714" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000330290" "00329073" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330291" "00329074" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330306" "00329089" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000397192" "00395953" "1" "00006" "00006" "2021-12-09 13:38:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000246957" "G6PC" "0000246958" "G6PC" "0000246959" "G6PC" "0000246960" "G6PC" "0000330290" "G6PC" "0000330291" "G6PC" "0000330306" "G6PC" "0000397192" "DMD" ## 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 = 53 "{{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}}" "0000169207" "0" "70" "17" "41053074" "41053074" "subst" "0" "00587" "G6PC_000022" "g.41053074C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000151.3(G6PC):c.181C>T p.(Leu61Phe)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.42901057C>T" "" "likely pathogenic" "" "0000169216" "0" "70" "17" "41052989" "41052990" "del" "0" "00587" "G6PC_000021" "g.41052989_41052990del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000151.3(G6PC):c.96_97del p.(Leu32Phefs*28)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.42900972_42900973del" "" "likely pathogenic" "" "0000250492" "0" "70" "17" "41063157" "41063157" "del" "0" "02329" "G6PC_000010" "g.41063157del" "" "" "" "G6PC(NM_000151.2):c.788delA (p.K263Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42911140del" "" "likely pathogenic" "" "0000255311" "0" "30" "17" "41055944" "41055944" "subst" "0.000004062" "01943" "G6PC_000025" "g.41055944A>G" "" "" "" "G6PC(NM_001270397.1):c.231-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42903927A>G" "" "likely benign" "" "0000284449" "0" "30" "17" "41053029" "41053029" "subst" "0.0000406114" "02326" "G6PC_000024" "g.41053029C>T" "" "" "" "G6PC(NM_000151.2):c.136C>T (p.L46F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42901012C>T" "" "likely benign" "" "0000284450" "0" "90" "17" "41055964" "41055964" "subst" "0.000584824" "02326" "G6PC_000001" "g.41055964C>T" "" "" "" "G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic" "" "0000284451" "0" "10" "17" "41056067" "41056067" "subst" "0.000938399" "02326" "G6PC_000027" "g.41056067C>A" "" "" "" "G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42904050C>A" "" "benign" "" "0000284452" "0" "10" "17" "41059631" "41059631" "subst" "0.00565391" "02326" "G6PC_000028" "g.41059631G>A" "" "" "" "G6PC(NM_001270397.2):c.355G>A (p.D119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42907614G>A" "" "benign" "" "0000284453" "0" "90" "17" "41061381" "41061381" "subst" "0.0000284255" "02326" "G6PC_000029" "g.41061381C>T" "" "" "" "G6PC(NM_000151.2):c.508C>T (p.R170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42909364C>T" "" "pathogenic" "" "0000342566" "0" "70" "17" "41063253" "41063253" "subst" "0.0000121858" "02327" "G6PC_000012" "g.41063253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42911236G>A" "" "likely pathogenic" "" "0000345817" "0" "90" "17" "41061435" "41061435" "subst" "0.0000527987" "02327" "G6PC_000011" "g.41061435G>C" "" "" "" "G6PC(NM_001270397.1):c.485G>C (p.R162T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42909418G>C" "" "pathogenic" "" "0000408471" "11" "90" "17" "41025445" "41054545" "del" "0" "02947" "G6PC_000013" "g.(41000000_41050890)_(41053142_41055947)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.41050890_41053142del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000499791" "0" "95" "17" "41055964" "41055964" "subst" "0.000584824" "02976" "G6PC_000001" "g.41055964C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic" "" "0000499792" "0" "55" "17" "41055964" "41055964" "subst" "0.000584824" "00000" "G6PC_000001" "g.41055964C>T" "" "" "" "" "" "Unknown" "" "rs1801175" "0" "" "" "g.42903947C>T" "" "VUS" "" "0000499793" "21" "95" "17" "41055964" "41055964" "subst" "0.000584824" "00000" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0002}" "" "362C>T" "" "Unknown" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic" "" "0000499794" "0" "55" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "" "" "" "" "Unknown" "" "rs80356488" "0" "" "" "g.42907561_42907562dup" "" "VUS" "" "0000499795" "21" "95" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0001}" "" "459insAT" "" "Unknown" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic" "" "0000499796" "21" "95" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0002}" "" "459insAT" "" "Unknown" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic" "" "0000499797" "0" "55" "17" "41063252" "41063252" "subst" "0.0000121854" "00000" "G6PC_000003" "g.41063252C>T" "" "" "" "" "" "Unknown" "" "rs104894563" "0" "" "" "g.42911235C>T" "" "VUS" "" "0000499798" "11" "95" "17" "41063252" "41063252" "subst" "0.0000121854" "00000" "G6PC_000003" "g.41063252C>T" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0003}" "" "962C>T" "" "Unknown" "" "" "0" "" "" "g.42911235C>T" "" "pathogenic" "" "0000499799" "0" "95" "17" "41063408" "41063408" "subst" "0.000203389" "02976" "G6PC_000002" "g.41063408C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42911391C>T" "" "pathogenic" "" "0000499800" "0" "55" "17" "41063408" "41063408" "subst" "0.000203389" "00000" "G6PC_000002" "g.41063408C>T" "" "" "" "" "" "Unknown" "" "rs80356487" "0" "" "" "g.42911391C>T" "" "VUS" "" "0000561550" "0" "30" "17" "41056067" "41056067" "subst" "0.000938399" "01943" "G6PC_000027" "g.41056067C>A" "" "" "" "G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42904050C>A" "" "likely benign" "" "0000561551" "0" "50" "17" "41062964" "41062964" "subst" "0" "01943" "G6PC_000030" "g.41062964C>T" "" "" "" "G6PC(NM_001270397.1):c.518C>T (p.P173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42910947C>T" "" "VUS" "" "0000561552" "0" "30" "17" "41063323" "41063323" "subst" "0.0000162477" "01943" "G6PC_000031" "g.41063323C>T" "" "" "" "G6PC(NM_000151.2):c.954C>T (p.V318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42911306C>T" "" "likely benign" "" "0000616562" "0" "70" "17" "41063381" "41063381" "subst" "0.0000121915" "02325" "G6PC_000032" "g.41063381G>T" "" "" "" "G6PC1(NM_000151.2):c.1012G>T (p.V338F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42911364G>T" "" "likely pathogenic" "" "0000649569" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "03575" "G6PC_000001" "g.41055964C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs1801175}" "Germline" "" "rs1801175" "0" "" "" "g.42903947C>T" "" "pathogenic" "" "0000649570" "1" "90" "17" "41063391" "41063391" "subst" "0.0000284497" "03575" "G6PC_000033" "g.41063391T>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387906505}" "Germline" "" "rs387906505" "0" "" "" "g.42911374T>A" "" "pathogenic" "" "0000649571" "1" "50" "17" "41064188" "41064188" "subst" "0" "03575" "G6PC_000034" "g.41064188G>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs116897758}" "Germline" "" "rs116897758" "0" "" "" "g.42912171G>T" "" "VUS" "" "0000658120" "0" "90" "17" "41053102" "41053102" "subst" "0" "02327" "G6PC_000035" "g.41053102G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42901085G>A" "" "pathogenic" "" "0000658121" "0" "90" "17" "41061435" "41061435" "subst" "0.0000527987" "01943" "G6PC_000011" "g.41061435G>C" "" "" "" "G6PC(NM_001270397.1):c.485G>C (p.R162T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42909418G>C" "" "pathogenic" "" "0000658122" "0" "30" "17" "41063279" "41063279" "subst" "0.0000609246" "01943" "G6PC_000036" "g.41063279G>A" "" "" "" "G6PC(NM_000151.2):c.910G>A (p.V304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42911262G>A" "" "likely benign" "" "0000680867" "0" "70" "17" "41052972" "41052972" "del" "0" "02327" "G6PC_000037" "g.41052972del" "" "" "" "G6PC1(NM_000151.2):c.79delC (p.Q27Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000714821" "3" "90" "17" "41057799" "41066450" "del" "0" "00000" "G6PC_000038" "g.(41056058_41059539)_(41066450_?)del" "" "{PMID:Wang 2013:22899091}" "" "E3-E5 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714822" "1" "90" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Wang 2013:22899091}" "" "379_380dupTA" "" "Germline" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic (recessive)" "" "0000714837" "3" "90" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Wang 2013:22899091}" "" "379_380dupTA" "" "Germline" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic (recessive)" "" "0000714867" "2" "90" "17" "41061406" "41061406" "subst" "0.0000203039" "00000" "G6PC_000039" "g.41061406C>T" "" "{PMID:Wang 2013:22899091}" "" "" "" "Germline" "" "" "0" "" "" "g.42909389C>T" "" "pathogenic (recessive)" "" "0000726375" "0" "30" "17" "41052817" "41052817" "subst" "0" "02330" "G6PC_000023" "g.41052817G>A" "" "" "" "G6PC(NM_001270397.2):c.-77G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726376" "0" "90" "17" "41053082" "41053082" "subst" "0.00000406213" "02325" "G6PC_000040" "g.41053082G>A" "" "" "" "G6PC1(NM_000151.2):c.189G>A (p.W63*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726377" "0" "90" "17" "41061381" "41061381" "subst" "0.0000284255" "02330" "G6PC_000029" "g.41061381C>T" "" "" "" "G6PC(NM_000151.2):c.508C>T (p.R170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726378" "0" "30" "17" "41063371" "41063371" "subst" "0.000101575" "01943" "G6PC_000041" "g.41063371C>T" "" "" "" "G6PC(NM_000151.2):c.1002C>T (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807972" "0" "90" "17" "41052972" "41052972" "del" "0" "02325" "G6PC_000037" "g.41052972del" "" "" "" "G6PC1(NM_000151.2):c.79delC (p.Q27Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807973" "0" "90" "17" "41053006" "41053006" "subst" "0.0000081217" "02325" "G6PC_000042" "g.41053006A>T" "" "" "" "G6PC1(NM_000151.2):c.113A>T (p.D38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807974" "0" "30" "17" "41063279" "41063279" "subst" "0.0000609246" "02326" "G6PC_000036" "g.41063279G>A" "" "" "" "G6PC(NM_000151.2):c.910G>A (p.V304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807975" "0" "30" "17" "41063317" "41063317" "subst" "0.0000771711" "01943" "G6PC_000043" "g.41063317C>A" "" "" "" "G6PC(NM_000151.2):c.948C>A (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807976" "0" "90" "17" "41063349" "41063351" "del" "0" "02325" "G6PC_000044" "g.41063349_41063351del" "" "" "" "G6PC1(NM_000151.2):c.980_982delTCT (p.F327del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807977" "0" "30" "17" "41063416" "41063416" "subst" "0" "01943" "G6PC_000045" "g.41063416G>T" "" "" "" "G6PC(NM_000151.2):c.1047G>T (p.L349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000829039" "0" "70" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Razaq 2021:34869784}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000854899" "0" "30" "17" "41063278" "41063278" "subst" "0.000288374" "02326" "G6PC_000047" "g.41063278C>T" "" "" "" "G6PC(NM_000151.2):c.909C>T (p.L303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865253" "0" "30" "17" "41053025" "41053025" "subst" "0.00110469" "01943" "G6PC_000046" "g.41053025C>T" "" "" "" "G6PC(NM_001270397.1):c.132C>T (p.Y44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865254" "0" "50" "17" "41055964" "41055964" "subst" "0.000584824" "01943" "G6PC_000001" "g.41055964C>T" "" "" "" "G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865255" "0" "90" "17" "41063408" "41063408" "subst" "0.000203389" "01943" "G6PC_000002" "g.41063408C>T" "" "" "" "G6PC(NM_000151.2):c.1039C>T (p.Q347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865256" "0" "30" "17" "41063437" "41063437" "subst" "0.00018737" "01943" "G6PC_000048" "g.41063437G>A" "" "" "" "G6PC(NM_000151.2):c.1068G>A (p.S356=)" "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 G6PC ## Count = 53 "{{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}}" "0000169207" "00008247" "00" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Leu61Phe)" "" "0000169216" "00008247" "00" "96" "0" "97" "0" "c.96_97del" "r.(?)" "p.(Leu32Phefs*28)" "" "0000250492" "00008247" "70" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Lys263ArgfsTer38)" "" "0000255311" "00008247" "30" "231" "-4" "231" "-4" "c.231-4A>G" "r.spl?" "p.?" "" "0000284449" "00008247" "30" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Leu46Phe)" "" "0000284450" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000284451" "00008247" "10" "340" "10" "340" "10" "c.340+10C>A" "r.(=)" "p.(=)" "" "0000284452" "00008247" "10" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Pro144=)" "" "0000284453" "00008247" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Ter)" "" "0000342566" "00008247" "70" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295His)" "" "0000345817" "00008247" "90" "562" "0" "562" "0" "c.562G>C" "r.(?)" "p.(Gly188Arg)" "" "0000408471" "00008247" "90" "-80" "0" "231" "0" "c.(?_-80)_(230+19_231-1)del" "r.0?" "p.0?" "_1_1i" "0000499791" "00008247" "95" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "2" "0000499792" "00008247" "55" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "2" "0000499793" "00008247" "95" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "2" "0000499794" "00008247" "55" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3" "0000499795" "00008247" "95" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3" "0000499796" "00008247" "95" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3" "0000499797" "00008247" "55" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "5" "0000499798" "00008247" "95" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "5" "0000499799" "00008247" "95" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "5" "0000499800" "00008247" "55" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "5" "0000561550" "00008247" "30" "340" "10" "340" "10" "c.340+10C>A" "r.(=)" "p.(=)" "" "0000561551" "00008247" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(His199Tyr)" "" "0000561552" "00008247" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Val318=)" "" "0000616562" "00008247" "70" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Val338Phe)" "" "0000649569" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000649570" "00008247" "90" "1022" "0" "1022" "0" "c.1022T>A" "r.(?)" "p.(Ile341Asn)" "" "0000649571" "00008247" "50" "1819" "0" "1819" "0" "c.*745G>T" "r.(=)" "p.(=)" "" "0000658120" "00008247" "90" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Trp70Ter)" "" "0000658121" "00008247" "90" "562" "0" "562" "0" "c.562G>C" "r.(?)" "p.(Gly188Arg)" "" "0000658122" "00008247" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Val304Ile)" "" "0000680867" "00008247" "70" "79" "0" "79" "0" "c.79del" "r.(?)" "p.(Gln27ArgfsTer9)" "" "0000714821" "00008247" "90" "0" "0" "0" "0" "c.(340+1_341-1)_*3007{0}" "r.?" "p.?" "2i_5_" "0000714822" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "" "0000714837" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "" "0000714867" "00008247" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "" "0000726375" "00008247" "30" "-77" "0" "-77" "0" "c.-77G>A" "r.(?)" "p.(=)" "" "0000726376" "00008247" "90" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Trp63*)" "" "0000726377" "00008247" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Ter)" "" "0000726378" "00008247" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Pro334=)" "" "0000807972" "00008247" "90" "79" "0" "79" "0" "c.79del" "r.(?)" "p.(Gln27ArgfsTer9)" "" "0000807973" "00008247" "90" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" "" "0000807974" "00008247" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Val304Ile)" "" "0000807975" "00008247" "30" "948" "0" "948" "0" "c.948C>A" "r.(?)" "p.(Ser316=)" "" "0000807976" "00008247" "90" "980" "0" "982" "0" "c.980_982del" "r.(?)" "p.(Phe327del)" "" "0000807977" "00008247" "30" "1047" "0" "1047" "0" "c.1047G>T" "r.(?)" "p.(Leu349=)" "" "0000829039" "00008247" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000854899" "00008247" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Leu303=)" "" "0000865253" "00008247" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Tyr44=)" "" "0000865254" "00008247" "50" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000865255" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "" "0000865256" "00008247" "30" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.(Ser356=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000104466" "0000169207" "0000104475" "0000169216" "0000184426" "0000408471" "0000246957" "0000499791" "0000246957" "0000499799" "0000246958" "0000499792" "0000246958" "0000499794" "0000246958" "0000499797" "0000246958" "0000499800" "0000246959" "0000499793" "0000246959" "0000499798" "0000246960" "0000499795" "0000246960" "0000499796" "0000292880" "0000649569" "0000292881" "0000649570" "0000292882" "0000649571" "0000330290" "0000714821" "0000330291" "0000714822" "0000330291" "0000714867" "0000330306" "0000714837" "0000397192" "0000829039"