### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALG2) # 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}}" "ALG2" "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)" "9" "q31.1" "unknown" "NG_008928.1" "UD_132085293999" "" "http://www.LOVD.nl/ALG2" "Congenital Disorders of Glycosylation pages " "1" "23159" "85365" "607905" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ALG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2014-10-23 02:01:47" "00000" "2025-05-05 21:14:00" ## 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}}" "00002370" "ALG2" "transcript variant 1" "001" "NM_033087.3" "" "NP_149078.1" "" "" "" "-70" "2760" "1251" "101984246" "101978707" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02720" "CDG1I" "glycosylation, congenital disorder of, type Ii (CDG-1I)" "AR" "607906" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04355" "CMS14" "myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14)" "AR" "616228" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ALG2" "00139" "ALG2" "02720" "ALG2" "04355" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00265647" "" "" "" "1" "" "00006" "{PMID:Monies 2016:27671536}" "759-gene panel analysis 50 patients suspected of LGMD" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam? / 11R-00685" "00374654" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3466" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00265647" "05126" "00374654" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02720, 04355, 05126 ## 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}}" "0000203434" "05126" "00265647" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000269864" "00198" "00374654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "muscle weakness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266770" "00265647" "1" "00006" "00006" "2019-09-30 11:53:15" "" "" "SEQ;SEQ-NG" "DNA" "" "759-gene panel neurological disorders" "0000375848" "00374654" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000266770" "ALG2" "0000375848" "ALG2" ## 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 = 24 "{{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}}" "0000259744" "0" "90" "9" "101984157" "101984157" "del" "0" "02325" "ALG2_000002" "g.101984157del" "" "" "" "ALG2(NM_033087.4):c.22delG (p.E8Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99221875del" "" "pathogenic" "" "0000332718" "0" "50" "9" "101984924" "101984924" "subst" "0" "01804" "SEC61B_000001" "g.101984924A>C" "" "" "" "SEC61B(NM_006808.2):c.100A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99222642A>C" "" "VUS" "" "0000535624" "0" "30" "9" "101980983" "101980983" "subst" "0.000320799" "01804" "ALG2_000003" "g.101980983T>C" "" "" "" "ALG2(NM_033087.3):c.484A>G (p.(Ile162Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218701T>C" "" "likely benign" "" "0000535625" "0" "30" "9" "101983831" "101983831" "subst" "0.000114008" "01804" "ALG2_000004" "g.101983831G>C" "" "" "" "ALG2(NM_033087.3):c.346C>G (p.(Gln116Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221549G>C" "" "likely benign" "" "0000535626" "0" "50" "9" "101983920" "101983922" "dup" "0" "02325" "ALG2_000005" "g.101983920_101983922dup" "" "" "" "ALG2(NM_033087.4):c.256_258dupCCG (p.A87dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221638_99221640dup" "" "VUS" "" "0000535627" "0" "30" "9" "101984040" "101984040" "subst" "0" "01804" "ALG2_000006" "g.101984040C>A" "" "" "" "ALG2(NM_033087.3):c.137G>T (p.(Ser46Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221758C>A" "" "likely benign" "" "0000535629" "0" "30" "9" "101984147" "101984147" "subst" "0.00617489" "01804" "ALG2_000008" "g.101984147G>C" "" "" "" "ALG2(NM_033087.3):c.30C>G (p.(Asp10Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221865G>C" "" "likely benign" "" "0000597587" "3" "90" "9" "101983953" "101983963" "delins" "0" "00006" "ALG2_000009" "g.101983953_101983963delinsCGGGGACT" "" "{PMID:Monies 2016:27671536}" "" "" "ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.99221671_99221681delinsCGGGGACT" "" "pathogenic" "ACMG" "0000611748" "0" "30" "9" "101980707" "101980707" "subst" "0.00394302" "01943" "ALG2_000011" "g.101980707A>G" "" "" "" "ALG2(NM_033087.3):c.760T>C (p.L254=), ALG2(NM_033087.4):c.760T>C (p.(Leu254=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218425A>G" "" "likely benign" "" "0000611749" "0" "30" "9" "101980992" "101980992" "subst" "0.000730941" "01804" "ALG2_000012" "g.101980992T>C" "" "" "" "ALG2(NM_033087.3):c.475A>G (p.I159V, p.(Ile159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218710T>C" "" "likely benign" "" "0000622101" "0" "30" "9" "101980597" "101980597" "subst" "4.87282E-5" "01943" "ALG2_000010" "g.101980597C>G" "" "" "" "ALG2(NM_033087.3):c.870G>C (p.Q290H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218315C>G" "" "likely benign" "" "0000622102" "0" "90" "9" "101983941" "101983951" "del" "0" "01943" "ALG2_000013" "g.101983941_101983951del" "" "" "" "ALG2(NM_033087.3):c.226_236delCCGCGAGGCCT (p.P76Gfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221659_99221669del" "" "pathogenic" "" "0000690340" "0" "30" "9" "101980429" "101980429" "subst" "7.35E-5" "01943" "ALG2_000014" "g.101980429C>T" "" "" "" "ALG2(NM_033087.3):c.1038G>A (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690341" "0" "30" "9" "101980992" "101980992" "subst" "0.000730941" "01943" "ALG2_000012" "g.101980992T>C" "" "" "" "ALG2(NM_033087.3):c.475A>G (p.I159V, p.(Ile159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787199" "3" "50" "9" "101983839" "101983839" "subst" "0" "00006" "ALG2_000015" "g.101983839A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.99221557A>T" "" "VUS" "" "0000978320" "0" "50" "9" "101980995" "101980995" "subst" "0.00014213" "01804" "ALG2_000017" "g.101980995G>T" "" "" "" "ALG2(NM_033087.4):c.472C>A (p.(Pro158Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978321" "0" "50" "9" "101981079" "101981079" "subst" "5.80383E-5" "01804" "ALG2_000018" "g.101981079G>A" "" "" "" "ALG2(NM_033087.4):c.388C>T (p.(Arg130Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978322" "0" "50" "9" "101984001" "101984001" "subst" "9.21251E-6" "01804" "ALG2_000019" "g.101984001C>T" "" "" "" "ALG2(NM_033087.4):c.176G>A (p.(Cys59Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978323" "0" "30" "9" "101984048" "101984048" "subst" "0.0178214" "01804" "ALG2_000020" "g.101984048G>C" "" "" "" "ALG2(NM_033087.4):c.129C>G (p.(Arg43=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997402" "0" "50" "9" "101980411" "101980412" "del" "7.34328E-5" "01804" "ALG2_000021" "g.101980411_101980412del" "" "" "" "ALG2(NM_033087.3):c.1055_1056delCC (p.(Ser352fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997403" "0" "50" "9" "101980412" "101980413" "ins" "7.3491E-5" "01804" "ALG2_000022" "g.101980412_101980413insTCA" "" "" "" "ALG2(NM_033087.3):c.1054_1055insTGA (p.(Ser352delinsLeuThr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027800" "0" "30" "9" "101981091" "101981091" "subst" "0" "03779" "ALG2_000023" "g.101981091G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001037114" "0" "10" "9" "101980707" "101980707" "subst" "0.00394302" "01804" "ALG2_000011" "g.101980707A>G" "" "" "" "ALG2(NM_033087.3):c.760T>C (p.L254=), ALG2(NM_033087.4):c.760T>C (p.(Leu254=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037115" "0" "50" "9" "101980715" "101980715" "subst" "1.62431E-5" "01804" "ALG2_000024" "g.101980715C>T" "" "" "" "ALG2(NM_033087.4):c.752G>A (p.(Arg251His))" "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 ALG2 ## Count = 24 "{{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}}" "0000259744" "00002370" "90" "22" "0" "22" "0" "c.22del" "r.(?)" "p.(Glu8AsnfsTer40)" "" "0000332718" "00002370" "50" "-748" "0" "-748" "0" "c.-748T>G" "r.(?)" "p.(=)" "" "0000535624" "00002370" "30" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Ile162Val)" "" "0000535625" "00002370" "30" "346" "0" "346" "0" "c.346C>G" "r.(?)" "p.(Gln116Glu)" "" "0000535626" "00002370" "50" "260" "0" "262" "0" "c.260_262dup" "r.(?)" "p.(Ala87dup)" "" "0000535627" "00002370" "30" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Ser46Ile)" "" "0000535629" "00002370" "30" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Asp10Glu)" "" "0000597587" "00002370" "90" "214" "0" "224" "0" "c.214_224delinsAGTCCCCG" "r.(?)" "p.(Gly72_Leu75delinsSerProArg)" "" "0000611748" "00002370" "30" "760" "0" "760" "0" "c.760T>C" "r.(?)" "p.(Leu254=)" "" "0000611749" "00002370" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ile159Val)" "" "0000622101" "00002370" "30" "870" "0" "870" "0" "c.870G>C" "r.(?)" "p.(Gln290His)" "" "0000622102" "00002370" "90" "226" "0" "236" "0" "c.226_236del" "r.(?)" "p.(Pro76GlyfsTer49)" "" "0000690340" "00002370" "30" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Ser346=)" "" "0000690341" "00002370" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ile159Val)" "" "0000787199" "00002370" "50" "338" "0" "338" "0" "c.338T>A" "r.(?)" "p.(Val113Glu)" "1" "0000978320" "00002370" "50" "472" "0" "472" "0" "c.472C>A" "r.(?)" "p.(Pro158Thr)" "" "0000978321" "00002370" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "" "0000978322" "00002370" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000978323" "00002370" "30" "129" "0" "129" "0" "c.129C>G" "r.(?)" "p.(=)" "" "0000997402" "00002370" "50" "1055" "0" "1056" "0" "c.1055_1056del" "r.(?)" "p.(Ser352Tyrfs*2)" "" "0000997403" "00002370" "50" "1054" "0" "1055" "0" "c.1054_1055insTGA" "r.(?)" "p.(Ser352delinsLeuThr)" "" "0001027800" "00002370" "30" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Leu126=)" "" "0001037114" "00002370" "10" "760" "0" "760" "0" "c.760T>C" "r.(?)" "p.(Leu254=)" "" "0001037115" "00002370" "50" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Arg251His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000266770" "0000597587" "0000375848" "0000787199"

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