### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PGAM2) # 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}}" "PGAM2" "phosphoglycerate mutase 2 (muscle)" "7" "p13-p12" "unknown" "NC_000007.13" "UD_132119099115" "" "https://www.LOVD.nl/PGAM2" "" "1" "8889" "5224" "612931" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-04-20 14:15:07" "00006" "2026-04-20 14:19:32" ## 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}}" "00016023" "PGAM2" "phosphoglycerate mutase 2 (muscle)" "001" "NM_000290.3" "" "NP_000281.2" "" "" "" "-58" "799" "762" "44105186" "44102326" "" "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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02011" "GSD10" "storage disease, glycogen, type X (GSD-10)" "AR" "261670" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PGAM2" "02011" "PGAM2" "04216" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00294454" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305163" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00329091" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P24" "00476907" "" "" "" "1" "" "00006" "{PMID:Alhammad 2024:39232665}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00294454" "00198" "00305163" "00198" "00329091" "04216" "00476907" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 02011, 04216 ## Count = 2 "{{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}}" "0000247288" "04216" "00329091" "00000" "Familial, autosomal recessive" "19y" "see paper; ..., lipid myopathy" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000361582" "00244" "00476907" "00006" "Familial, autosomal recessive" "" "not specified" "" "" "" "" "" "" "" "" "GSD10" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295622" "00294454" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306292" "00305163" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000330308" "00329091" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000478551" "00476907" "1" "00006" "00006" "2026-04-20 14:19:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000330308" "PGAM2" ## 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}}" "0000251083" "0" "10" "7" "44104788" "44104788" "subst" "0.0271041" "02326" "PGAM2_000002" "g.44104788A>C" "" "" "" "PGAM2(NM_000290.3):c.341T>G (p.(Ile114Ser)), PGAM2(NM_000290.4):c.341T>G (p.I114S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44065189A>C" "" "benign" "" "0000305511" "0" "30" "7" "44104754" "44104754" "subst" "0.00413808" "01943" "PGAM2_000001" "g.44104754C>T" "" "" "" "PGAM2(NM_000290.3):c.375G>A (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44065155C>T" "" "likely benign" "" "0000532021" "0" "50" "7" "44104542" "44104542" "subst" "0" "01943" "DBNL_000001" "g.44104542G>C" "" "" "" "PGAM2(NM_000290.3):c.484C>G (p.R162G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44064943G>C" "" "VUS" "" "0000532022" "0" "30" "7" "44104567" "44104567" "subst" "0.000722871" "01943" "DBNL_000002" "g.44104567G>A" "" "" "" "PGAM2(NM_000290.3):c.459C>T (p.C153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44064968G>A" "" "likely benign" "" "0000532023" "0" "50" "7" "44105101" "44105101" "subst" "9.75023E-5" "01804" "DBNL_000003" "g.44105101G>A" "" "" "" "PGAM2(NM_000290.3):c.28C>T (p.(Arg10Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44065502G>A" "" "VUS" "" "0000652311" "1" "50" "7" "44104839" "44104839" "subst" "0.00122754" "03575" "PGAM2_000003" "g.44104839C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous; {DB:CLININrs77938727}" "Germline" "" "rs77938727" "0" "" "" "g.44065240C>T" "" "VUS" "" "0000655831" "0" "90" "7" "44104494" "44104494" "del" "0" "01943" "DBNL_000004" "g.44104494del" "" "" "" "PGAM2(NM_000290.3):c.533delG (p.G178Afs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44064895del" "" "pathogenic" "" "0000669980" "3" "50" "7" "44104839" "44104839" "subst" "0.00122754" "03575" "PGAM2_000003" "g.44104839C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs77938727}" "Germline" "" "rs77938727" "0" "" "" "g.44065240C>T" "" "VUS" "" "0000678105" "0" "30" "7" "44102418" "44102418" "subst" "0.000714808" "01943" "DBNL_000006" "g.44102418T>G" "" "" "" "PGAM2(NM_000290.3):c.707A>C (p.E236A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678106" "0" "50" "7" "44104505" "44104505" "subst" "0" "01943" "DBNL_000007" "g.44104505T>C" "" "" "" "PGAM2(NM_000290.3):c.521A>G (p.Q174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690009" "0" "30" "7" "44104788" "44104788" "subst" "0.0271041" "01804" "PGAM2_000002" "g.44104788A>C" "" "" "" "PGAM2(NM_000290.3):c.341T>G (p.(Ile114Ser)), PGAM2(NM_000290.4):c.341T>G (p.I114S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690010" "0" "50" "7" "44105095" "44105095" "subst" "1.21865E-5" "01943" "DBNL_000008" "g.44105095C>T" "" "" "" "PGAM2(NM_000290.3):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000714839" "1" "90" "7" "44104885" "44104885" "subst" "1.62709E-5" "00000" "PGAM2_000004" "g.44104885C>T" "" "{PMID:Wang 2013:22899091}" "" "" "" "Germline" "" "" "0" "" "" "g.44065286C>T" "" "pathogenic (recessive)" "" "0000721456" "0" "70" "7" "44105109" "44105109" "del" "1.62503E-5" "02329" "DBNL_000005" "g.44105109del" "" "" "" "PGAM2(NM_000290.4):c.20delT (p.V7Gfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860786" "0" "30" "7" "44102532" "44102532" "subst" "0.000942453" "01943" "DBNL_000009" "g.44102532A>G" "" "" "" "PGAM2(NM_000290.3):c.596-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860787" "0" "50" "7" "44104618" "44104618" "dup" "0" "01943" "DBNL_000010" "g.44104618dup" "" "" "" "PGAM2(NM_000290.3):c.415-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912757" "0" "90" "7" "44104896" "44104896" "subst" "0.000508295" "02329" "DBNL_000011" "g.44104896C>T" "" "" "" "PGAM2(NM_000290.4):c.233G>A (p.W78*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001074282" "1" "90" "7" "44104861" "44104861" "subst" "2.03355E-5" "00006" "PGAM2_000006" "g.44104861G>A" "" "{PMID:Alhammad 2024:39232665}" "" "" "" "Germline" "" "" "0" "" "" "g.44065262G>A" "" "pathogenic (recessive)" "" "0001074295" "2" "70" "7" "44104456" "44104468" "del" "0" "00006" "PGAM2_000005" "g.44104456_44104468del" "" "{PMID:Alhammad 2024:39232665}" "" "562_574delAACAGCCTGCGGG" "" "Germline" "" "" "0" "" "" "g.44064857_44064869del" "" "likely pathogenic (recessive)" "" ## 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 PGAM2 ## 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}}" "0000251083" "00016023" "10" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Ile114Ser)" "" "0000305511" "00016023" "30" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Pro125=)" "" "0000532021" "00016023" "50" "484" "0" "484" "0" "c.484C>G" "r.(?)" "p.(Arg162Gly)" "" "0000532022" "00016023" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Cys153=)" "" "0000532023" "00016023" "50" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Arg10Trp)" "" "0000652311" "00016023" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Gly97Asp)" "" "0000655831" "00016023" "90" "533" "0" "533" "0" "c.533del" "r.(?)" "p.(Gly178AlafsTer31)" "" "0000669980" "00016023" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Gly97Asp)" "" "0000678105" "00016023" "30" "707" "0" "707" "0" "c.707A>C" "r.(?)" "p.(Glu236Ala)" "" "0000678106" "00016023" "50" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Gln174Arg)" "" "0000690009" "00016023" "30" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Ile114Ser)" "" "0000690010" "00016023" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000714839" "00016023" "90" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Val82Met)" "" "0000721456" "00016023" "70" "20" "0" "20" "0" "c.20del" "r.(?)" "p.(Val7GlyfsTer24)" "" "0000860786" "00016023" "30" "596" "-3" "596" "-3" "c.596-3T>C" "r.spl?" "p.?" "" "0000860787" "00016023" "50" "415" "-3" "415" "-3" "c.415-3dup" "r.spl?" "p.?" "" "0000912757" "00016023" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Trp78*)" "" "0001074282" "00016023" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" "" "0001074295" "00016023" "70" "562" "0" "574" "0" "c.562_574del" "r.(?)" "p.(Asn188AlafsTer17)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000295622" "0000652311" "0000306292" "0000669980" "0000330308" "0000714839" "0000478551" "0001074282" "0000478551" "0001074295"