### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POMGNT2) # 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}}" "POMGNT2" "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)" "3" "p22.1" "unknown" "NG_032930.1" "UD_139626492950" "" "http://www.LOVD.nl/POMGNT2" "" "1" "25902" "84892" "614828" "1" "1" "1" "1" "alias GTDC2, C3orf39\r\nThis database is one of the gene variant databases from the:

" "" "g" "http://databases.lovd.nl/shared/refseq/POMGNT2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00006" "2012-09-01 00:00:00" "00006" "2016-01-11 00:27:07" "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}}" "00023963" "POMGNT2" "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)" "001" "NM_032806.5" "" "NP_116195.2" "" "" "" "-353" "2203" "1743" "43106083" "43079229" "00006" "2014-09-25 22:46:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{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" "" "" "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" "00361" "WWS" "Walker-Warburg syndrome (WWS)" "SMo" "" "" "" "" "00006" "2014-03-22 16:35:00" "00006" "2021-12-10 21:51:32" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03738" "MDDGA8" "dystrophy-dystroglycanopathy, muscular, congenital with brain and eye anomalies), type A8" "AR" "614830" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 21:18:14" "03978" "MMDD" "myopathy, due to myoadenylate deaminase deficiency (MMDD)" "AR" "615511" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04436" "MDDGA9" "dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A9" "AR" "616538" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2024-01-12 21:35:59" "05115" "MDDGA" "dystrophy, muscular, dystroglycanopathy, type A (MDDGA)" "" "" "" "" "" "00006" "2016-01-11 01:54:55" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06582" "MDDGC8;LGMDR24" "dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C8" "AR" "618135" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-01-12 21:19:55" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "POMGNT2" "00139" "POMGNT2" "03738" "POMGNT2" "06582" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00056445" "" "" "" "1" "" "00006" "" "4-generation family, 1 affected" "M" "yes" "Jordan" "<1m" "0" "" "" "" "" "00056446" "" "" "" "2" "" "00006" "" "4-generation family, unaffected carier parents" "M;F" "yes" "Jordan" "" "0" "" "" "" "" "00056447" "" "" "" "1" "" "00006" "" "4-generation family, 1 affected" "F" "yes" "Saudi Arabia" "<1m" "0" "" "" "" "" "00056448" "" "" "" "2" "" "00006" "" "4-generation family, unaffected carier parents" "M;F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00056449" "" "" "" "1" "" "00006" "" "2-generation family, fetus 1" "F" "?" "India" "<0d" "0" "" "" "" "" "00056450" "" "" "" "1" "" "00006" "" "2-generation family, fetus 2" "F" "?" "India" "<0d" "0" "" "" "" "" "00056451" "" "" "" "2" "" "00006" "" "2-generation family, unaffected carrier parents" "M;F" "?" "India" "" "0" "" "" "" "" "00080890" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00104053" "" "" "" "1" "" "01967" "" "" "" "" "" "" "0" "" "" "" "" "00134082" "" "" "" "2" "" "01164" "" "family, 2 affected siblings" "M" "yes" "Syria" "08y" "0" "" "" "" "96042" "00274315" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "" "M" "" "United States" "" "0" "" "" "" "Fam1255" "00293387" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293388" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293389" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361569" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG2024" "00374813" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3015" "00374814" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2393" "00392518" "" "" "" "1" "" "04186" "" "" "F" "no" "(Korea, South (Republic))" "" "0" "" "" "Korea" "Case 37" "00392549" "" "" "" "1" "" "04186" "" "" "M" "no" "(Korea, South (Republic))" "" "0" "" "" "Korea" "Case 38" "00408684" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "yes" "France" "" "0" "" "" "" "Pat27" "00430410" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients" "F" "" "Turkey" "" "0" "" "" "" "D21" "00438488" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "D21" "00460249" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, no family history" "" "" "Spain" "" "0" "" "" "" "Pat20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00056445" "00361" "00056446" "00000" "00056447" "00361" "00056448" "00000" "00056449" "00361" "00056450" "00361" "00056451" "00000" "00080890" "03738" "00104053" "04436" "00134082" "03978" "00274315" "05126" "00293387" "00198" "00293388" "00198" "00293389" "00198" "00361569" "00139" "00374813" "00198" "00374814" "00198" "00392518" "05115" "00392549" "05115" "00408684" "05618" "00430410" "05618" "00438488" "05121" "00460249" "01273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00361, 01273, 03738, 03978, 04436, 05115, 05121, 05126, 05618, 06582 ## Count = 18 "{{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}}" "0000043133" "00361" "00056445" "00006" "Isolated (sporadic)" "" "cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, retinal dysplasia, hypotonia" "0d" "" "" "" "" "" "" "" "" "" "" "0000043134" "00000" "00056446" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043135" "00361" "00056447" "00006" "Isolated (sporadic)" "" "cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, microphthalmia, macrophthalmia, hypotonia" "0d" "" "" "" "" "" "" "" "" "" "" "0000043136" "00000" "00056448" "00006" "Isolated (sporadic)" "" "cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, microphthalmia, macrophthalmia, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000043137" "00361" "00056449" "00006" "Isolated (sporadic)" "" "cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia; 23w-terminated pregnancy ventricular enlargement" "<0d" "" "" "" "" "" "" "" "" "" "" "0000043138" "00361" "00056450" "00006" "Isolated (sporadic)" "" "cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia; 20w-terminated pregnancy ventricular enlargement" "<0d" "" "" "" "" "" "" "" "" "" "" "0000043139" "00000" "00056451" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060459" "03738" "00080890" "01758" "Familial, autosomal recessive" "" "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (OMIM:614830)" "" "" "" "" "" "" "" "" "" "" "" "0000082016" "04436" "00104053" "01967" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106835" "03978" "00134082" "01164" "Unknown" "08y" "global developmental delay, muscular hypotonia, joint contractures (leg), no speech, hydrocephalus, cryptochism, CK elevation (2500 U/l)" "" "07y" "" "" "" "" "" "" "" "" "" "0000209260" "05126" "00274315" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000256974" "00139" "00361569" "00006" "Familial, autosomal recessive" "18d" "syndromic; global developmental delay, occipital encephalocele and hydronephrosis" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000270023" "00198" "00374813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000270024" "00198" "00374814" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000300802" "05618" "00408684" "00006" "Familial, autosomal recessive" "" "" "24y" "" "" "" "" "" "" "" "LGMDR24" "neuromuscular disease" "" "0000321207" "05618" "00430410" "00006" "Familial, autosomal recessive" "1y" "hypotonia; MRI cranial Dandy walker malformation" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000328391" "05121" "00438488" "00006" "Familial, autosomal recessive" "9m" "hypotonia, cranial mri: dandy walker malformation" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000347978" "01273" "00460249" "00006" "Unknown" "0y-9y" "asymptomatic, hyperCKemia; elevated CK level 480-1500 UI/L" "" "" "" "" "" "" "" "" "" "asymptomatic, hyperCKemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056406" "00056445" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ;SEQ-NG" "DNA" "" "" "0000056407" "00056446" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ;SEQ-NG" "DNA" "" "" "0000056408" "00056447" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ;SEQ-NG" "DNA" "" "" "0000056409" "00056448" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ;SEQ-NG" "DNA" "" "" "0000056410" "00056449" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ" "DNA" "" "" "0000056411" "00056450" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ" "DNA" "" "" "0000056412" "00056451" "1" "00006" "00006" "2012-09-07 13:59:32" "00006" "2013-04-02 22:32:53" "SEQ" "DNA" "" "" "0000081002" "00080890" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104524" "00104053" "1" "01967" "01967" "2017-05-09 16:08:04" "" "" "SEQ" "DNA" "" "" "0000134922" "00134082" "1" "01164" "01164" "2017-11-24 15:26:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000275471" "00274315" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294555" "00293387" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294556" "00293388" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294557" "00293389" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362797" "00361569" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000376007" "00374813" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376008" "00374814" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393795" "00392518" "1" "04186" "04186" "2021-11-23 09:58:14" "" "" "PCR" "DNA" "" "" "0000393796" "00392549" "1" "04186" "04186" "2021-11-23 10:00:53" "" "" "PCR" "DNA" "" "" "0000409946" "00408684" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000431819" "00430410" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000439970" "00438488" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000461880" "00460249" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000056406" "POMGNT2" "0000056407" "POMGNT2" "0000056408" "POMGNT2" "0000056409" "POMGNT2" "0000056410" "POMGNT2" "0000056411" "POMGNT2" "0000056412" "POMGNT2" "0000081002" "POMGNT2" "0000104524" "POMGNT2" "0000134922" "POMGNT1" "0000275471" "POMGNT2" "0000362797" "POMGNT2" "0000376007" "POMGNT2" "0000376008" "POMGNT2" "0000393795" "POMGNT2" "0000393796" "POMGNT2" ## 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 = 50 "{{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}}" "0000086653" "11" "90" "3" "43121591" "43121591" "subst" "4.07037E-6" "00006" "POMGNT2_000001" "g.43121591G>A" "" "{PMID:Manzini 2012:22958903}" "" "" "detected after whole exome sequencing, homozygosity mapping (25.8 Mb)" "Germline" "" "" "0" "" "" "g.43080099G>A" "" "pathogenic" "" "0000086654" "1" "90" "3" "43121591" "43121591" "subst" "4.07037E-6" "00006" "POMGNT2_000001" "g.43121591G>A" "" "{PMID:Manzini 2012:22958903}" "" "" "" "Germline" "" "" "0" "" "" "g.43080099G>A" "" "pathogenic" "" "0000086655" "11" "90" "3" "43122451" "43122451" "subst" "8.12222E-6" "00006" "POMGNT2_000002" "g.43122451C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "detected after whole exome sequencing, homozygosity mapping (28.1 Mb)" "Germline" "" "" "0" "" "" "g.43080959C>T" "" "pathogenic" "" "0000086656" "1" "90" "3" "43122451" "43122451" "subst" "8.12222E-6" "00006" "POMGNT2_000002" "g.43122451C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "detected after whole exome sequencing, homozygosity mapping (28.1 Mb)" "Germline" "" "" "0" "" "" "g.43080959C>T" "" "pathogenic" "" "0000086657" "11" "90" "3" "43122334" "43122334" "subst" "8.12711E-6" "00006" "POMGNT2_000003" "g.43122334C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "GTDC2 in 7.5 Mb homozygous region suggests distant relation parents" "Germline" "" "" "0" "" "" "g.43080842C>T" "" "pathogenic" "" "0000086658" "11" "90" "3" "43122334" "43122334" "subst" "8.12711E-6" "00006" "POMGNT2_000003" "g.43122334C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "GTDC2 in 7.5 Mb homozygous region suggests distant relation parents" "Germline" "" "" "0" "" "" "g.43080842C>T" "" "pathogenic" "" "0000086659" "1" "90" "3" "43122334" "43122334" "subst" "8.12711E-6" "00006" "POMGNT2_000003" "g.43122334C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "" "Germline" "" "" "0" "" "" "g.43080842C>T" "" "pathogenic" "" "0000086704" "21" "90" "3" "43121591" "43121591" "subst" "4.07037E-6" "00006" "POMGNT2_000001" "g.43121591G>A" "" "" "" "" "detected after whole exome sequencing, homozygosity mapping (25.8 Mb)" "Germline" "" "" "0" "" "" "g.43080099G>A" "" "pathogenic" "" "0000086705" "21" "90" "3" "43122451" "43122451" "subst" "8.12222E-6" "00006" "POMGNT2_000002" "g.43122451C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "detected after whole exome sequencing, homozygosity mapping (28.1 Mb)" "Germline" "" "" "0" "" "" "g.43080959C>T" "" "pathogenic" "" "0000086706" "21" "90" "3" "43122334" "43122334" "subst" "8.12711E-6" "00006" "POMGNT2_000003" "g.43122334C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "GTDC2 in 7.5 Mb homozygous region suggests distant relation parents" "Germline" "" "" "0" "" "" "g.43080842C>T" "" "pathogenic" "" "0000086707" "21" "90" "3" "43122334" "43122334" "subst" "8.12711E-6" "00006" "POMGNT2_000003" "g.43122334C>T" "" "{PMID:Manzini 2012:22958903}" "" "" "GTDC2 in 7.5 Mb homozygous region suggests distant relation parents" "Germline" "" "" "0" "" "" "g.43080842C>T" "" "pathogenic" "" "0000130088" "3" "70" "3" "43122451" "43122451" "subst" "8.12222E-6" "01758" "POMGNT2_000002" "g.43122451C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.43080959C>T" "" "likely pathogenic" "ACMG" "0000169468" "1" "70" "3" "43121453" "43121453" "subst" "1.22195E-5" "01967" "POMGNT2_000004" "g.43121453G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.43079961G>A" "" "likely pathogenic" "" "0000169469" "2" "70" "3" "43121590" "43121590" "subst" "4.88496E-5" "01967" "POMGNT2_000005" "g.43121590C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.43080098C>T" "" "likely pathogenic" "" "0000225118" "3" "50" "3" "43122413" "43122413" "subst" "1.21879E-5" "01164" "POMGNT2_000006" "g.43122413C>T" "" "" "" "" "" "Germline" "?" "rs768063378" "0" "" "" "g.43080921C>T" "" "VUS" "ACMG" "0000297265" "0" "10" "3" "43121559" "43121559" "subst" "0.78858" "02325" "POMGNT2_000007" "g.43121559C>T" "" "" "" "POMGNT2(NM_032806.6):c.1365G>A (p.P455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43080067C>T" "" "benign" "" "0000338081" "0" "10" "3" "43120835" "43120835" "subst" "0" "02327" "POMGNT2_000008" "g.43120835T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43079343T>G" "" "benign" "" "0000338082" "0" "10" "3" "43122966" "43122966" "subst" "0.491104" "02327" "POMGNT2_000015" "g.43122966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43081474G>A" "" "benign" "" "0000338084" "0" "10" "3" "43147538" "43147538" "subst" "0" "02327" "POMGNT2_000017" "g.43147538T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43106046T>G" "" "benign" "" "0000340789" "0" "10" "3" "43121436" "43121436" "subst" "0.0102904" "02327" "POMGNT2_000009" "g.43121436G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43079944G>A" "" "benign" "" "0000342559" "0" "90" "3" "43122044" "43122044" "subst" "8.12665E-6" "02327" "POMGNT2_000012" "g.43122044G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43080552G>A" "" "pathogenic" "" "0000343617" "0" "50" "3" "43122445" "43122445" "subst" "1.21842E-5" "02327" "POMGNT2_000013" "g.43122445T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43080953T>C" "" "VUS" "" "0000519835" "0" "50" "3" "43121638" "43121638" "subst" "8.1416E-5" "01943" "POMGNT2_000018" "g.43121638C>T" "" "" "" "POMGNT2(NM_032806.5):c.1286G>A (p.R429H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43080146C>T" "" "VUS" "" "0000519836" "0" "30" "3" "43122219" "43122219" "subst" "2.03431E-5" "01943" "POMGNT2_000019" "g.43122219G>T" "" "" "" "POMGNT2(NM_032806.5):c.705C>A (p.G235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43080727G>T" "" "likely benign" "" "0000519837" "0" "30" "3" "43122685" "43122685" "subst" "0.00151937" "01943" "POMGNT2_000020" "g.43122685C>T" "" "" "" "POMGNT2(NM_032806.5):c.239G>A (p.R80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43081193C>T" "" "likely benign" "" "0000608719" "0" "30" "3" "43121608" "43121608" "subst" "0" "01804" "POMGNT2_000023" "g.43121608T>G" "" "" "" "POMGNT2(NM_032806.5):c.1316A>C (p.(Asn439Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43080116T>G" "" "likely benign" "" "0000621278" "0" "50" "3" "43121522" "43121522" "subst" "0.000175116" "01943" "POMGNT2_000022" "g.43121522G>A" "" "" "" "POMGNT2(NM_032806.5):c.1402C>T (p.R468W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43080030G>A" "" "VUS" "" "0000629487" "1" "50" "3" "43122734" "43122734" "subst" "2.85125E-5" "00006" "POMGNT2_000026" "g.43122734C>T" "" "{PMID:Reddy 2017:27708273}" "" "" "" "Germline" "" "rs548769646" "0" "" "" "g.43081242C>T" "" "VUS" "" "0000629488" "0" "70" "3" "43122184" "43122185" "del" "0" "00006" "POMGNT2_000025" "g.43122184_43122185del" "" "{PMID:Reddy 2017:27708273}" "" "740_741delAA" "" "De novo" "" "" "0" "" "" "g.43080692_43080693del" "" "likely pathogenic (recessive)" "" "0000651244" "1" "30" "3" "43121540" "43121540" "subst" "0.00167307" "03575" "POMGNT2_000027" "g.43121540G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs147175064}" "Germline" "" "rs147175064" "0" "" "" "g.43080048G>A" "" "likely benign" "" "0000651245" "1" "50" "3" "43122470" "43122470" "subst" "0.000199003" "03575" "POMGNT2_000028" "g.43122470C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs201114442}" "Germline" "" "rs201114442" "0" "" "" "g.43080978C>T" "" "VUS" "" "0000651246" "1" "30" "3" "43122560" "43122560" "subst" "0.000978799" "03575" "POMGNT2_000029" "g.43122560C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs149948290}" "Germline" "" "rs149948290" "0" "" "" "g.43081068C>T" "" "likely benign" "" "0000689086" "0" "50" "3" "43122686" "43122686" "subst" "1.62495E-5" "01943" "POMGNT2_000030" "g.43122686G>A" "" "" "" "POMGNT2(NM_032806.5):c.238C>T (p.R80C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763171" "3" "70" "3" "43122451" "43122451" "subst" "8.12222E-6" "00006" "POMGNT2_000002" "g.43122451C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.43080959C>T" "" "likely pathogenic" "ACMG" "0000787358" "3" "50" "3" "43122685" "43122685" "subst" "0.00151937" "00006" "POMGNT2_000020" "g.43122685C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs146511234" "0" "" "" "g.43081193C>T" "{CV-RCV:000650546.1}" "VUS" "" "0000787359" "3" "50" "3" "43122295" "43122295" "subst" "6.10148E-5" "00006" "POMGNT2_000031" "g.43122295C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs561770941" "0" "" "" "g.43080803C>A" "" "VUS" "" "0000801229" "0" "50" "3" "43121654" "43121654" "subst" "1.22098E-5" "01943" "POMGNT2_000032" "g.43121654G>A" "" "" "" "POMGNT2(NM_032806.5):c.1270C>T (p.R424C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000824610" "0" "70" "3" "43122458" "43122458" "subst" "8.5291E-5" "04186" "POMGNT2_000033" "g.43122458C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000824612" "0" "70" "3" "43122629" "43122629" "subst" "0" "04186" "POMGNT2_000034" "g.43122629T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000847162" "3" "90" "3" "43122166" "43122166" "subst" "1.6267E-5" "00006" "POMGNT2_000035" "g.43122166G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.43080674G>A" "" "pathogenic" "" "0000859025" "0" "50" "3" "43122436" "43122436" "subst" "0.000138088" "01943" "POMGNT2_000036" "g.43122436T>C" "" "" "" "POMGNT2(NM_032806.5):c.488A>G (p.N163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885840" "0" "50" "3" "43122515" "43122515" "subst" "9.34033E-5" "01804" "POMGNT2_000037" "g.43122515C>A" "" "" "" "POMGNT2(NM_032806.5):c.409G>T (p.(Ala137Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911947" "0" "70" "3" "43121621" "43121622" "del" "0" "02329" "POMGNT2_000038" "g.43121621_43121622del" "" "" "" "POMGNT2(NM_032806.6):c.1305_1306delCT (p.C436Lfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000917109" "3" "70" "3" "43121621" "43121622" "del" "0" "00006" "POMGNT2_000038" "g.43121621_43121622del" "" "{PMID:Cavdarli 2023:36575883}" "" "1305_1306delCT" "ACMG PVS1 PM2" "Germline" "" "" "0" "" "" "g.43080129_43080130del" "" "likely pathogenic (recessive)" "ACMG" "0000936114" "3" "70" "3" "43121621" "43121622" "del" "0" "00006" "POMGNT2_000038" "g.43121621_43121622del" "" "{PMID:Cavdarli 2023:36575883}" "" "c.1305_1306delCT" "ACMG PVS1 PM2" "Germline" "" "" "0" "" "" "g.43080129_43080130del" "" "likely pathogenic (recessive)" "ACMG" "0000948173" "0" "70" "3" "43121242" "43121242" "subst" "1.21934E-5" "01804" "POMGNT2_000039" "g.43121242C>T" "" "" "" "POMGNT2(NM_032806.5):c.1682G>A (p.(Arg561His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975827" "0" "50" "3" "43121716" "43121716" "subst" "0" "01804" "POMGNT2_000040" "g.43121716G>A" "" "" "" "POMGNT2(NM_032806.6):c.1208C>T (p.(Thr403Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975828" "0" "50" "3" "43122355" "43122355" "subst" "6.9095E-5" "01804" "POMGNT2_000041" "g.43122355C>T" "" "" "" "POMGNT2(NM_032806.6):c.569G>A (p.(Arg190Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001021248" "3" "70" "3" "43121603" "43121603" "subst" "8.14206E-6" "00006" "POMGNT2_000042" "g.43121603C>T" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.43080111C>T" "" "likely pathogenic (recessive)" "" "0001033962" "0" "50" "3" "43121927" "43121927" "subst" "0" "01804" "POMGNT2_000043" "g.43121927G>A" "" "" "" "POMGNT2(NM_032806.6):c.997C>T (p.(Arg333Trp))" "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 POMGNT2 ## Count = 50 "{{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}}" "0000086653" "00023963" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "2" "0000086654" "00023963" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "2" "0000086655" "00023963" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "2" "0000086656" "00023963" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "2" "0000086657" "00023963" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Trp197*)" "2" "0000086658" "00023963" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Trp197*)" "2" "0000086659" "00023963" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Trp197*)" "2" "0000086704" "00023963" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "2" "0000086705" "00023963" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "2" "0000086706" "00023963" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Trp197*)" "2" "0000086707" "00023963" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Trp197*)" "2" "0000130088" "00023963" "70" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "2" "0000169468" "00023963" "70" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Gln491*)" "2" "0000169469" "00023963" "70" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445Gln)" "2" "0000225118" "00023963" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Asp171Asn)" "" "0000297265" "00023963" "10" "1365" "0" "1365" "0" "c.1365G>A" "r.(?)" "p.(Pro455=)" "" "0000338081" "00023963" "10" "2089" "0" "2089" "0" "c.*346A>C" "r.(=)" "p.(=)" "" "0000338082" "00023963" "10" "-43" "0" "-43" "0" "c.-43C>T" "r.(?)" "p.(=)" "" "0000338084" "00023963" "10" "-316" "0" "-316" "0" "c.-316A>C" "r.(?)" "p.(=)" "" "0000340789" "00023963" "10" "1488" "0" "1488" "0" "c.1488C>T" "r.(?)" "p.(Gly496=)" "" "0000342559" "00023963" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Ter)" "" "0000343617" "00023963" "50" "479" "0" "479" "0" "c.479A>G" "r.(?)" "p.(Asn160Ser)" "" "0000519835" "00023963" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429His)" "" "0000519836" "00023963" "30" "705" "0" "705" "0" "c.705C>A" "r.(?)" "p.(Gly235=)" "" "0000519837" "00023963" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "" "0000608719" "00023963" "30" "1316" "0" "1316" "0" "c.1316A>C" "r.(?)" "p.(Asn439Thr)" "" "0000621278" "00023963" "50" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "" "0000629487" "00023963" "50" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Ser)" "" "0000629488" "00023963" "70" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Phe247Cysfs*16)" "" "0000651244" "00023963" "30" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(Arg462Trp)" "" "0000651245" "00023963" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Val152Met)" "" "0000651246" "00023963" "30" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Val122Met)" "" "0000689086" "00023963" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Cys)" "" "0000763171" "00023963" "70" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "" "0000787358" "00023963" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "2" "0000787359" "00023963" "50" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Ser210Ile)" "2" "0000801229" "00023963" "50" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Cys)" "" "0000824610" "00023963" "70" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "2" "0000824612" "00023963" "70" "295" "0" "295" "0" "c.295A>C" "r.(?)" "p.(Asn99His)" "2" "0000847162" "00023963" "90" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Pro253Leu)" "" "0000859025" "00023963" "50" "488" "0" "488" "0" "c.488A>G" "r.(?)" "p.(Asn163Ser)" "" "0000885840" "00023963" "50" "409" "0" "409" "0" "c.409G>T" "r.(?)" "p.(Ala137Ser)" "" "0000911947" "00023963" "70" "1305" "0" "1306" "0" "c.1305_1306del" "r.(?)" "p.(Cys436Leufs*77)" "" "0000917109" "00023963" "70" "1305" "0" "1306" "0" "c.1305_1306del" "r.(?)" "p.(Cys436LeufsTer77)" "" "0000936114" "00023963" "70" "1305" "0" "1306" "0" "c.1305_1306del" "r.(?)" "p.(Cys436LeufsTer77)" "" "0000948173" "00023963" "70" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0000975827" "00023963" "50" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Thr403Ile)" "" "0000975828" "00023963" "50" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190Gln)" "" "0001021248" "00023963" "70" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Glu441Lys)" "" "0001033962" "00023963" "50" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000056406" "0000086653" "0000056406" "0000086704" "0000056407" "0000086654" "0000056408" "0000086655" "0000056408" "0000086705" "0000056409" "0000086656" "0000056410" "0000086657" "0000056410" "0000086706" "0000056411" "0000086658" "0000056411" "0000086707" "0000056412" "0000086659" "0000081002" "0000130088" "0000104524" "0000169468" "0000104524" "0000169469" "0000134922" "0000225118" "0000275471" "0000629487" "0000275471" "0000629488" "0000294555" "0000651244" "0000294556" "0000651245" "0000294557" "0000651246" "0000362797" "0000763171" "0000376007" "0000787358" "0000376008" "0000787359" "0000393795" "0000824610" "0000393796" "0000824612" "0000409946" "0000847162" "0000431819" "0000917109" "0000439970" "0000936114" "0000461880" "0001021248"