### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OGT) # 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}}" "OGT" "O-linked N-acetylglucosamine (GlcNAc) transferase" "X" "q13" "unknown" "NG_015875.1" "UD_132119053798" "" "https://www.LOVD.nl/OGT" "" "1" "8127" "8473" "300255" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/OGT_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-05-11 16:52:51" "00000" "2026-01-20 18:57:21" ## 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}}" "00000824" "OGT" "O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase), transcript variant 1" "001" "NM_181672.2" "" "NP_858058.1" "" "" "" "-238" "5244" "3141" "70752912" "70795747" "00000" "2012-09-13 12:54:30" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05737" "MRX106" "mental retardation, X-linked, type 106 (MRX106)" "XLR" "300997" "" "" "" "00006" "2020-05-11 15:06:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OGT" "05737" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00173095" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173096" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173097" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173098" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00230994" "" "" "" "1" "" "01261" "{PMID:Pravata 2020:31627256}, {PMID:Pravata 2020:32080367}, {DOI:Pravata 2020:10.1038/s41431-020-0589-9}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "no" "Estonia" ">07y" "0" "" "" "" "PatET" "00302897" "" "" "" "1" "" "03671" "{PMID:Willems 2017:28584052}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "" ">05y" "0" "" "" "White" "Fam1Patient1" "00302912" "" "" "" "1" "" "03671" "{PMID:Willems 2017:28584052}" "4-generation family, 1 affected, unaffected carrier mother/grandmother" "M" "yes" "" ">05y" "0" "" "" "white" "Fam2Patient2" "00303079" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat121" "00303377" "" "" "" "3" "" "03671" "{PMID:Vaidyanathan 2017:28302723}" "4-generation family, 3 affected (M), 4 unaffected carrier females" "M" "yes" "United States" "" "0" "" "" "" "FamK9427PatII-4 (P2)" "00303414" "" "" "00303377" "1" "" "03671" "{PMID:Vaidyanathan 2017:28302723}" "" "M" "yes" "United States" "" "0" "" "" "" "FamK9427urIII-4 (P1)" "00303415" "" "" "00303377" "1" "" "03671" "{PMID:Vaidyanathan 2017:28302723}" "" "M" "yes" "United States" "" "0" "" "" "" "FamK9427PatIV-1" "00303554" "" "" "" "3" "" "00006" "{PMID:Bouazzi 2015:26273451}" "2-generation family, 3 affected brothers, heterozygous unaffected mother" "M" "" "France" "" "0" "" "" "" "family" "00303555" "" "" "" "1" "" "00006" "{PMID:Selvan 2018:29769320}" "3-generation family, 1 affected, unaffected carrier mother" "M" "" "Germany" "" "0" "" "" "Germany; Scandinavia" "Pat1" "00303556" "" "" "" "5" "" "00006" "{PMID:Selvan 2018:29769320}" "4-generation family,5 affected (5M), unaffected heterozygous carrier females" "M" "" "Netherlands" "" "0" "" "" "" "FamPat2/3" "00303568" "" "" "" "2" "" "00006" "{PMID:Pravata 2019:31296563}" "2-generation family, 1 affected twin pair, unaffected non-carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "twins" "00464069" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173095" "00187" "00173096" "00187" "00173097" "00187" "00173098" "00187" "00230994" "05461" "00302897" "00139" "00302912" "00139" "00303079" "05521" "00303377" "00139" "00303414" "00139" "00303415" "00139" "00303554" "00139" "00303555" "00139" "00303556" "00139" "00303568" "00139" "00464069" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 05461, 05521, 05737 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "0000137959" "00187" "00173095" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137960" "00187" "00173096" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137961" "00187" "00173097" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137962" "00187" "00173098" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000229979" "00139" "00302897" "03671" "Familial, X-linked" "05y" "Intellectual disability (HP:0001249);Neurodevelopmental delay (HP:0012758);Psychomotor retardation (HP:0025356);Behavioral abnormality (HP:0000708);Abnormal facial shape (HP:0001999);Abnormality of the genital system (HP:0000078);Amblyopia (HP:0000646);Bicuspid aortic valve (HP:0001647)" "02y" "" "" "" "O-GlcNAc transferase (OGT)" "" "" "" "" "0000229990" "00139" "00302912" "03671" "Familial, X-linked" "05y" "Intellectual disability (HP:0001249);Neurodevelopmental delay (HP:0012758);Psychomotor retardation (HP:0025356);Abnormal facial shape (HP:0001999);Abnormality of the genital system (HP:0000078);Oral motor hypotonia (HP:0030190);Astigmatism (HP:0000483);Nystagmus (HP:0000639);Hypermetropia (HP:0000540)" "03y" "" "" "" "O-GlcNAc transferase (OGT)" "" "" "MRX106" "intellectual disability" "0000230005" "05461" "00230994" "01261" "Isolated (sporadic)" "07y08m" "see paper; ..." "" "" "" "" "" "" "" "MRX106" "intellectual disability" "0000230162" "05521" "00303079" "00006" "Familial, X-linked" "" "Generalized epilepsy, unclassified; age onset childhood" "" "" "" "" "" "" "" "" "seizures" "0000230453" "00139" "00303377" "03671" "Familial, X-linked recessive" "56y" "Intellectual disability (HP:0001249); Abnormality of the genital system (HP:0000078); Finger clinodactyly (HP:0040019); Microcephaly (HP:0000252); Male balding (HP:0002234)" "" "" "" "" "O-GlcNAc transferase (OGT)" "" "" "" "" "0000230490" "00139" "00303414" "03671" "Familial, X-linked recessive" "" "Intellectual disability (HP:0001249); Abnormality of the genital system (HP:0000078); Finger clinodactyly (HP:0040019); Microcephaly (HP:0000252);" "" "" "" "" "O-GlcNAc transferase (OGT)" "" "" "" "" "0000230491" "00139" "00303415" "03671" "Familial, X-linked recessive" "06y" "Intellectual disability (HP:0001249); Abnormality of the genital system (HP:0000078); Finger clinodactyly (HP:0040019); Microcephaly (HP:0000252);" "" "" "" "" "O-GlcNAc transferase (OGT)" "" "" "" "" "0000230630" "00139" "00303554" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe nonsyndromic intellectual deficiency, mild dysmorphic features" "" "" "" "" "" "" "" "MRX106" "intellectual disability" "0000230631" "00139" "00303555" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., moderate intellectual disability, microcephaly, hypothyroidism, abnormal sleep pattern, nystagmus, and epilepsy" "" "" "" "" "" "" "" "MRX106" "intellectual disability" "0000230632" "00139" "00303556" "00006" "Familial, X-linked recessive" "" "see paper; ...," "" "" "" "" "" "" "" "MRX106" "intellectual disability" "0000230634" "00139" "00303568" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay speech and language" "" "" "" "" "" "" "" "MRX106" "intellectual disability" "0000350130" "00139" "00464069" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0012758, HP:0000750, HP:0002474, HP:0007281, HP:0007018, HP:0000248, HP:0001252, HP:0100033" "" "" "" "" "" "" "" "XLID106" "complex neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000173978" "00173095" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173979" "00173096" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173980" "00173097" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173981" "00173098" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000232090" "00230994" "1" "01261" "01261" "2019-04-21 20:11:12" "" "" "SEQ-NG-I" "DNA" "blood" "WES, WGS" "0000304027" "00302897" "1" "03671" "03671" "2020-06-03 16:13:55" "" "" "SEQ" "DNA" "" "" "0000304038" "00302912" "1" "03671" "03671" "2020-06-03 17:56:52" "00006" "2020-06-04 13:50:58" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000304204" "00303079" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304503" "00303377" "1" "03671" "03671" "2020-06-11 13:44:00" "" "" "SEQ" "DNA" "" "" "0000304540" "00303414" "1" "03671" "03671" "2020-06-11 17:37:38" "" "" "SEQ" "DNA" "" "" "0000304541" "00303415" "1" "03671" "03671" "2020-06-11 18:39:22" "" "" "SEQ" "DNA" "" "" "0000304682" "00303554" "1" "00006" "00006" "2020-06-16 10:59:44" "" "" "SEQ;SEQ-NG" "DNA" "" "exome X-chromosome" "0000304683" "00303555" "1" "00006" "00006" "2020-06-16 11:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000304684" "00303556" "1" "00006" "00006" "2020-06-16 12:02:00" "" "" "SEQ" "DNA" "" "exome X-chromosome" "0000304696" "00303568" "1" "00006" "00006" "2020-06-16 14:07:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000465700" "00464069" "1" "03544" "03544" "2025-02-20 06:03:10" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000173978" "VSIG1" "0000173979" "AMELX" "0000173980" "AMELX" "0000173981" "DDX53" "0000304027" "OGT" "0000304038" "OGT" "0000304204" "OGT" "0000304503" "OGT" "0000304540" "OGT" "0000304541" "OGT" "0000304682" "MED12" "0000304682" "OGT" "0000304683" "OGT" "0000304684" "OGT" "0000304696" "OGT" ## 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 = 34 "{{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}}" "0000002010" "0" "50" "X" "70794500" "70794500" "dup" "0" "00037" "OGT_000002" "g.70794500dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71574650dup" "" "VUS" "" "0000002011" "0" "50" "X" "70794620" "70794621" "dup" "0" "00037" "OGT_000001" "g.70794620_70794621dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71574770_71574771dup" "" "VUS" "" "0000003046" "0" "50" "X" "70794603" "70794603" "del" "0" "00037" "OGT_000003" "g.70794603del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71574753del" "" "VUS" "" "0000011029" "0" "50" "X" "70794603" "70794603" "del" "0" "00037" "OGT_000003" "g.70794603del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71574753del" "" "VUS" "" "0000334588" "0" "30" "X" "70757899" "70757899" "subst" "5.61842E-6" "01804" "OGT_000004" "g.70757899G>A" "" "" "" "OGT(NM_181672.2):c.439G>A (p.(Val147Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71538049G>A" "" "likely benign" "" "0000334589" "0" "50" "X" "70776799" "70776799" "del" "0" "01804" "OGT_000005" "g.70776799del" "" "" "" "OGT(NM_181672.2):c.1167-6delT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71556949del" "" "VUS" "" "0000394295" "1" "30" "X" "70777420" "70777420" "subst" "0.000230117" "00124" "OGT_000006" "g.70777420T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N490N" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.71557570T>C" "" "likely benign" "" "0000394296" "1" "50" "X" "70779222" "70779222" "subst" "0" "00124" "OGT_000007" "g.70779222A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.71559372A>G" "" "VUS" "" "0000394297" "1" "30" "X" "70779449" "70779449" "subst" "5.64975E-6" "00124" "OGT_000008" "g.70779449T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y581Y" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.71559599T>C" "" "likely benign" "" "0000394298" "1" "30" "X" "70787601" "70787601" "subst" "0.00159244" "00124" "OGT_000009" "g.70787601A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P937P" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.71567751A>G" "" "likely benign" "" "0000474404" "0" "90" "X" "70781715" "70781715" "subst" "0" "01261" "OGT_000010" "g.70781715A>T" "" "{PMID:Pravata 2020:31627256}, {PMID:Pravata 2020:32080367}, {DOI:Pravata 2020:10.1038/s41431-020-0589-9}" "" "" "" "De novo" "" "" "0" "" "" "g.71561865A>T" "" "likely pathogenic" "" "0000577318" "0" "50" "X" "70783239" "70783239" "subst" "0" "01943" "OGT_000011" "g.70783239G>A" "" "" "" "OGT(NM_181672.3):c.2326G>A (p.V776I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71563389G>A" "" "VUS" "" "0000577319" "0" "50" "X" "70787360" "70787360" "subst" "0" "02325" "OGT_000012" "g.70787360G>A" "" "" "" "OGT(NM_181672.3):c.2600G>A (p.R867H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71567510G>A" "" "VUS" "" "0000577320" "0" "30" "X" "70793560" "70793560" "subst" "0" "01943" "OGT_000013" "g.70793560C>A" "" "" "" "OGT(NM_181672.3):c.3057C>A (p.L1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71573710C>A" "" "likely benign" "" "0000577321" "0" "30" "X" "70800700" "70800700" "subst" "0" "01943" "OGT_000014" "g.70800700G>T" "" "" "" "ACRC(NM_052957.4):c.29G>T (p.R10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71580850G>T" "" "likely benign" "" "0000619855" "0" "50" "X" "70753179" "70753179" "subst" "0" "01943" "TAF1_000087" "g.70753179C>G" "" "" "" "OGT(NM_181673.2):c.30C>G (p.D10E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71533329C>G" "" "VUS" "" "0000667419" "21" "90" "X" "70775162" "70775162" "subst" "0" "03671" "OGT_000015" "g.70775162G>C" "" "{PMID:Willems 2017:28584052}" "" "" "" "De novo" "" "" "0" "" "" "g.71555312G>C" "" "likely pathogenic (recessive)" "" "0000667431" "21" "90" "X" "70764411" "70764411" "subst" "0" "03671" "OGT_000016" "g.70764411T>G" "" "{PMID:Willems 2017:28584052}" "" "" "de novo variant in carrier grandmother\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.70764411T>G" "" "pathogenic (recessive)" "" "0000667617" "21" "50" "X" "70775086" "70775086" "subst" "0" "00006" "OGT_000017" "g.70775086G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71555236G>A" "" "VUS" "ACMG" "0000667956" "21" "90" "X" "70775073" "70775073" "subst" "0" "03671" "OGT_000018" "g.70775073G>T" "" "{PMID:Vaidyanathan 2017:28302723}" "" "759G>T (L254F)" "" "Germline" "yes" "" "0" "" "" "g.71555223G>T" "" "likely pathogenic (recessive)" "" "0000667999" "21" "90" "X" "70775073" "70775073" "subst" "0" "03671" "OGT_000018" "g.70775073G>T" "" "{PMID:Vaidyanathan 2017:28302723}" "" "759G>T (L254F)" "" "Germline" "yes" "" "0" "" "" "g.71555223G>T" "" "likely pathogenic (recessive)" "" "0000668000" "21" "90" "X" "70775073" "70775073" "subst" "0" "03671" "OGT_000018" "g.70775073G>T" "" "{PMID:Vaidyanathan 2017:28302723}" "" "759G>T (L254F)" "" "Germline" "yes" "" "0" "" "" "g.71555223G>T" "" "likely pathogenic (recessive)" "" "0000668182" "21" "50" "X" "70775834" "70775834" "subst" "0" "00006" "OGT_000019" "g.70775834G>A" "" "{PMID:Bouazzi 2015:26273451}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71555984G>A" "" "VUS" "" "0000668183" "21" "90" "X" "70775086" "70775086" "subst" "0" "00006" "OGT_000017" "g.70775086G>A" "" "{PMID:Selvan 2018:29769320}" "" "" "" "Germline" "" "" "0" "" "" "g.71555236G>A" "" "pathogenic (recessive)" "" "0000668184" "0" "90" "X" "70775895" "70775895" "subst" "0" "00006" "OGT_000020" "g.70775895A>G" "" "{PMID:Selvan 2018:29769320}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71556045A>G" "" "pathogenic (recessive)" "" "0000668202" "0" "90" "X" "70779215" "70779215" "subst" "0" "00006" "OGT_000010" "g.70779215T>A" "" "{PMID:Pravata 2019:31296563}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000693720" "0" "30" "X" "70777113" "70777113" "subst" "0" "01943" "OGT_000021" "g.70777113T>A" "" "" "" "OGT(NM_181673.2):c.1359T>A (p.P453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856769" "0" "50" "X" "70775164" "70775164" "subst" "0" "02325" "OGT_000023" "g.70775164G>A" "" "" "" "OGT(NM_181672.3):c.853G>A (p.A285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856770" "0" "30" "X" "70800708" "70800708" "subst" "1.278E-5" "01943" "OGT_000024" "g.70800708G>A" "" "" "" "GCNA(NM_052957.4):c.37G>A (p.E13K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867538" "0" "50" "X" "70757887" "70757887" "subst" "0" "02325" "OGT_000022" "g.70757887G>A" "" "" "" "OGT(NM_181672.3):c.427G>A (p.V143I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927418" "0" "30" "X" "70783076" "70783076" "subst" "0" "02327" "OGT_000025" "g.70783076C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006943" "0" "50" "X" "70784541" "70784541" "subst" "0" "01804" "OGT_000026" "g.70784541G>A" "" "" "" "OGT(NM_181672.2):c.2527G>A (p.(Val843Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029397" "0" "70" "X" "70776846" "70776846" "subst" "0" "03544" "OGT_000027" "g.70776846C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.71556996C>T" "{CV:3766444}" "likely pathogenic" "ACMG" "0001067734" "0" "50" "X" "70787596" "70787596" "subst" "0" "02325" "OGT_000028" "g.70787596A>G" "" "" "" "" "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 OGT ## Count = 34 "{{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}}" "0000002010" "00000824" "50" "3997" "0" "3997" "0" "c.*856dup" "r.(=)" "p.(=)" "" "0000002011" "00000824" "50" "4117" "0" "4118" "0" "c.*976_*977dup" "r.(=)" "p.(=)" "" "0000003046" "00000824" "50" "4100" "0" "4100" "0" "c.*959del" "r.(=)" "p.(=)" "" "0000011029" "00000824" "50" "4100" "0" "4100" "0" "c.*959del" "r.(=)" "p.(=)" "" "0000334588" "00000824" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Val147Ile)" "" "0000334589" "00000824" "50" "1167" "-3" "1167" "-3" "c.1167-3del" "r.spl?" "p.?" "" "0000394295" "00000824" "30" "1500" "0" "1500" "0" "c.1500T>C" "r.(=)" "p.(=)" "" "0000394296" "00000824" "50" "1708" "0" "1708" "0" "c.1708A>G" "r.(?)" "p.(Thr570Ala)" "" "0000394297" "00000824" "30" "1773" "0" "1773" "0" "c.1773T>C" "r.(=)" "p.(=)" "" "0000394298" "00000824" "30" "2841" "0" "2841" "0" "c.2841A>G" "r.(=)" "p.(=)" "" "0000474404" "00000824" "90" "1942" "0" "1942" "0" "c.1942A>T" "r.(?)" "p.(Asn648Tyr)" "" "0000577318" "00000824" "50" "2326" "0" "2326" "0" "c.2326G>A" "r.(?)" "p.(Val776Ile)" "" "0000577319" "00000824" "50" "2600" "0" "2600" "0" "c.2600G>A" "r.(?)" "p.(Arg867His)" "" "0000577320" "00000824" "30" "3057" "0" "3057" "0" "c.3057C>A" "r.(?)" "p.(Leu1019=)" "" "0000577321" "00000824" "30" "10197" "0" "10197" "0" "c.*7056G>T" "r.(=)" "p.(=)" "" "0000619855" "00000824" "50" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Asp10Glu)" "" "0000667419" "00000824" "90" "851" "0" "851" "0" "c.851G>C" "r.(?)" "p.(Arg284Pro)" "" "0000667431" "00000824" "90" "463" "-6" "463" "-6" "c.463-6T>G" "r.463_531del" "p.Asp155_Lys177del" "3i" "0000667617" "00000824" "50" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "" "0000667956" "00000824" "90" "762" "0" "762" "0" "c.762G>T" "r.(?)" "p.(Leu254Phe)" "" "0000667999" "00000824" "90" "762" "0" "762" "0" "c.762G>T" "r.(?)" "p.(Leu254Phe)" "" "0000668000" "00000824" "90" "762" "0" "762" "0" "c.762G>T" "r.(?)" "p.(Leu254Phe)" "" "0000668182" "00000824" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "" "0000668183" "00000824" "90" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "" "0000668184" "00000824" "90" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Glu339Gly)" "" "0000668202" "00000824" "90" "1942" "0" "1942" "0" "c.1942A>T" "r.(?)" "p.(Asn648Tyr)" "" "0000693720" "00000824" "30" "1389" "0" "1389" "0" "c.1389T>A" "r.(?)" "p.(Pro463=)" "" "0000856769" "00000824" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Ala285Thr)" "" "0000856770" "00000824" "30" "10205" "0" "10205" "0" "c.*7064G>A" "r.(=)" "p.(=)" "" "0000867538" "00000824" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Val143Ile)" "" "0000927418" "00000824" "30" "2245" "0" "2245" "0" "c.2245C>G" "r.(?)" "p.(Pro749Ala)" "" "0001006943" "00000824" "50" "2527" "0" "2527" "0" "c.2527G>A" "r.(?)" "p.(Val843Ile)" "" "0001029397" "00000824" "70" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Thr404Ile)" "10" "0001067734" "00000824" "50" "2836" "0" "2836" "0" "c.2836A>G" "r.(?)" "p.(Met946Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002010" "0000000209" "0000002011" "0000000209" "0000003046" "0000000210" "0000011029" "0000173978" "0000394295" "0000173979" "0000394296" "0000173980" "0000394297" "0000173981" "0000394298" "0000232090" "0000474404" "0000304027" "0000667419" "0000304038" "0000667431" "0000304204" "0000667617" "0000304503" "0000667956" "0000304540" "0000667999" "0000304541" "0000668000" "0000304682" "0000668182" "0000304683" "0000668183" "0000304684" "0000668184" "0000304696" "0000668202" "0000465700" "0001029397"