### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MGAT2) # 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}}" "MGAT2" "mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase" "14" "q21" "unknown" "NG_008920.1" "UD_132084526204" "" "http://www.LOVD.nl/MGAT2" "Congenital Disorder of Glycosylation pages " "1" "7045" "4247" "602616" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/MGAT2_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-20 19:08:35" "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}}" "00012087" "MGAT2" "mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase" "001" "NM_002408.3" "" "NP_002399.1" "" "" "" "-498" "2213" "1344" "50087489" "50090199" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01690" "CDG2A" "glycosylation, congenital disorder of, type IIa (CDG-2A)" "AR" "212066" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MGAT2" "00139" "MGAT2" "01690" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00291045" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291046" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361617" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG0511" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00291045" "00198" "00291046" "00198" "00361617" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01690 ## 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}}" "0000257022" "00139" "00361617" "00006" "Familial, autosomal recessive" "18y" "syndromic; global developmental delay, dysmorphism" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292213" "00291045" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292214" "00291046" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362845" "00361617" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000362845" "MGAT2" ## 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 = 13 "{{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}}" "0000256150" "0" "50" "14" "50088663" "50088663" "subst" "4.06068E-6" "01943" "MGAT2_000002" "g.50088663A>C" "" "" "" "MGAT2(NM_002408.3):c.677A>C (p.K226T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49621945A>C" "" "VUS" "" "0000267433" "0" "10" "14" "50092471" "50092471" "subst" "0.446975" "02325" "DNAAF2_000002" "g.50092471T>C" "" "" "" "DNAAF2(NM_018139.2):c.2303A>G (p.D768G), DNAAF2(NM_018139.3):c.2303A>G (p.D768G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49625753T>C" "" "benign" "" "0000275142" "0" "30" "14" "50094784" "50094784" "subst" "0.00245101" "01943" "DNAAF2_000003" "g.50094784T>C" "" "" "" "DNAAF2(NM_018139.2):c.1953A>G (p.P651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49628066T>C" "" "likely benign" "" "0000275143" "0" "10" "14" "50092471" "50092471" "subst" "0.446975" "01943" "DNAAF2_000002" "g.50092471T>C" "" "" "" "DNAAF2(NM_018139.2):c.2303A>G (p.D768G), DNAAF2(NM_018139.3):c.2303A>G (p.D768G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49625753T>C" "" "benign" "" "0000323666" "0" "30" "14" "50088053" "50088053" "subst" "0" "01804" "MGAT2_000001" "g.50088053G>A" "" "" "" "MGAT2(NM_002408.3):c.67G>A (p.(Val23Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49621335G>A" "" "likely benign" "" "0000323667" "0" "50" "14" "50089100" "50089100" "subst" "1.21837E-5" "01804" "MGAT2_000003" "g.50089100A>C" "" "" "" "MGAT2(NM_002408.3):c.1114A>C (p.(Ile372Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49622382A>C" "" "VUS" "" "0000323668" "0" "70" "14" "50092466" "50092470" "del" "0" "01804" "DNAAF2_000001" "g.50092466_50092470del" "" "" "" "DNAAF2(NM_001083908.1):c.2163_2167del (p.(Asn721LysfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49625748_49625752del" "" "likely pathogenic" "" "0000347485" "0" "70" "14" "50088697" "50088697" "subst" "0" "02327" "MGAT2_000004" "g.50088697G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49621979G>C" "" "likely pathogenic" "" "0000648902" "1" "30" "14" "50088085" "50088085" "subst" "0.0015653" "03575" "DNAAF2_000022" "g.50088085G>T" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs140584714}" "Germline" "" "rs140584714" "0" "" "" "g.49621367G>T" "" "likely benign" "" "0000648903" "1" "50" "14" "50088346" "50088346" "subst" "0.00315707" "03575" "MGAT2_000005" "g.50088346G>A" "9/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs148802016}" "Germline" "" "rs148802016" "0" "" "" "g.49621628G>A" "" "VUS" "" "0000763219" "3" "70" "14" "50088697" "50088697" "subst" "0" "00006" "MGAT2_000004" "g.50088697G>C" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS3, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.49621979G>C" "" "likely pathogenic" "ACMG" "0001039968" "0" "50" "14" "50088469" "50088469" "subst" "4.06065E-6" "01804" "DNAAF2_000036" "g.50088469T>G" "" "" "" "MGAT2(NM_002408.4):c.483T>G (p.(Asn161Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039969" "0" "50" "14" "50089280" "50089280" "subst" "0" "01804" "DNAAF2_000037" "g.50089280G>C" "" "" "" "MGAT2(NM_002408.4):c.1294G>C (p.(Gly432Arg))" "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 MGAT2 ## Count = 13 "{{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}}" "0000256150" "00012087" "50" "677" "0" "677" "0" "c.677A>C" "r.(?)" "p.(Lys226Thr)" "" "0000267433" "00012087" "10" "4485" "0" "4485" "0" "c.*3141T>C" "r.(=)" "p.(=)" "" "0000275142" "00012087" "30" "6798" "0" "6798" "0" "c.*5454T>C" "r.(=)" "p.(=)" "" "0000275143" "00012087" "10" "4485" "0" "4485" "0" "c.*3141T>C" "r.(=)" "p.(=)" "" "0000323666" "00012087" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000323667" "00012087" "50" "1114" "0" "1114" "0" "c.1114A>C" "r.(?)" "p.(Ile372Leu)" "" "0000323668" "00012087" "70" "4480" "0" "4484" "0" "c.*3136_*3140del" "r.(=)" "p.(=)" "" "0000347485" "00012087" "70" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Lys237Asn)" "" "0000648902" "00012087" "30" "99" "0" "99" "0" "c.99G>T" "r.(?)" "p.(Lys33Asn)" "" "0000648903" "00012087" "50" "360" "0" "360" "0" "c.360G>A" "r.(=)" "p.(=)" "" "0000763219" "00012087" "70" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Lys237Asn)" "" "0001039968" "00012087" "50" "483" "0" "483" "0" "c.483T>G" "r.(?)" "p.(Asn161Lys)" "" "0001039969" "00012087" "50" "1294" "0" "1294" "0" "c.1294G>C" "r.(?)" "p.(Gly432Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000292213" "0000648902" "0000292214" "0000648903" "0000362845" "0000763219"