### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAN2C1) # 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}}" "MAN2C1" "mannosidase, alpha, class 2C, member 1" "15" "q11-qter" "unknown" "NC_000015.9" "UD_136022206135" "" "https://www.LOVD.nl/MAN2C1" "" "1" "6827" "4123" "154580" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MAN2C1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-21 15:57:30" "00000" "2025-11-01 13:22:20" ## 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}}" "00025682" "MAN2C1" "transcript variant 1" "004" "NM_006715.3" "" "NP_006706.2" "" "" "" "-44" "3237" "3123" "75660968" "75648133" "00006" "2022-01-21 14:49:04" "" "" ## 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}}" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAN2C1" "05461" "MAN2C1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00231412" "" "" "" "6" "" "03278" "{PMID:Cox 2019:31215115}" "4-generation family, 6 affected (3F, 3M)" "F;M" "" "United States" "" "0" "" "" "" "Fam4527" "00399542" "" "" "" "2" "" "00006" "{PMID:Maia 2022:35045343}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Portugal" "" "0" "" "" "" "Fam1-PatIII1" "00399543" "" "" "" "1" "" "00006" "{PMID:Maia 2022:35045343}" "sister" "F" "" "Portugal" "" "0" "" "" "" "Fam1-PatIII2" "00399544" "" "" "" "2" "" "00006" "{PMID:Maia 2022:35045343}" "2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Fam2-GEF16/274" "00399545" "" "" "" "1" "" "00006" "{PMID:Maia 2022:35045343}" "2nd fetus" "M" "" "France" "" "0" "" "" "" "Fam2-GEF17/561" "00399546" "" "" "" "1" "" "00006" "{PMID:Maia 2022:35045343}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Morocco" "" "0" "" "" "" "Fam3-D16.0510" "00399547" "" "" "" "1" "" "00006" "{PMID:Maia 2022:35045343}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "American" "Fam4-PS4501" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00231412" "04254" "00399542" "05611" "00399543" "05611" "00399544" "05611" "00399545" "05611" "00399546" "05611" "00399547" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04254, 05461, 05611 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000173804" "04254" "00231412" "03278" "Familial, autosomal dominant" "" "vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655)" "" "" "" "" "" "" "" "" "" "0000292647" "05611" "00399542" "00006" "Familial, autosomal recessive" "7y" "no macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital pelvicalyceal dilatation; no intellectual disability; motor impairment (fundamental motor skill); language impairment; behavioral problems; poor social interaction; no epilepsy" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000292648" "05611" "00399543" "00006" "Familial, autosomal recessive" "6y" "macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; mild intellectual disability; motor impairment; language impairment; behavioral problems; poor social interaction; no epilepsy; MRI brain 5y-no polymicrogyria, no heterotopia , no ventriculomegaly , no callosal anomalies , no hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, no malrotated hippocampus, no brainstem hypoplasia, no cerebellar hypoplasia, vermis hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000292649" "05611" "00399544" "00006" "Familial, autosomal recessive" "<1d" "no macrocephaly; micro/retrognathia; dysmorphic features; tongue hamartoma; MRI brain 26 2/7gw-no polymicrogyria, heterotopia, ventriculomegaly, partial agenesis corpus callosum, hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, brainstem hypoplasia (z-shaped), cerebellar hypoplasia, vermis hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000292650" "05611" "00399545" "00006" "Familial, autosomal recessive" "<1d" "no macrocephaly; no micro/retrognathia; dysmorphic features; tongue hamartoma; congenital cleft palate, moderate ureteral dilatation; MRI brain 29 4/7gw-polymicrogyria, heterotopia, ventriculomegaly, partial agenesis corpus callosum, hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, no cerebellar hypoplasia, vermis hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000292651" "05611" "00399546" "00006" "Familial, autosomal recessive" "18y" "macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital strabismus; moderate intellectual disability; motor impairment; language impairment; behavioral problems childhood; no poor social interaction; no epilepsy; MRI brain 7y-polymicrogyria, no heterotopia , ventriculomegaly, agenesis corpus callosum, no hypothalamic hamartoma, interhemispheric cysts, no cavum vergae, malrotated hippocampus, brainstem hypoplasia, cerebellar hypoplasia, vermis hypoplasia (inferior)" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000292652" "05611" "00399547" "00006" "Familial, autosomal recessive" "4y" "no macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital slightly enlarged tongue, joint abnormalities, phimosis; intellectual disability; motor impairment; language impairment; poor social interaction; MRI brain 1m-polymicrogyria, no heterotopia , no ventriculomegaly , callosal anomalies (thin), no hypothalamic hamartoma, no interhemispheric cysts, cavum vergae, no brainstem hypoplasia, no cerebellar hypoplasia, no vermis hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232511" "00231412" "1" "03278" "03278" "2019-05-02 06:00:24" "" "" "SEQ-NG" "DNA" "" "" "0000400784" "00399542" "1" "00006" "00006" "2022-01-21 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400785" "00399543" "1" "00006" "00006" "2022-01-21 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400786" "00399544" "1" "00006" "00006" "2022-01-21 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400787" "00399545" "1" "00006" "00006" "2022-01-21 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400788" "00399546" "1" "00006" "00006" "2022-01-21 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400789" "00399547" "1" "00006" "00006" "2022-01-21 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000232511" "GDF11" ## 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 = 60 "{{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}}" "0000480527" "0" "70" "15" "75648535" "75648535" "subst" "4.09309E-6" "03278" "MAN2C1_000001" "g.75648535G>A" "" "{PMID:Cox 2019:31215115}" "" "" "" "Germline" "" "" "0" "" "" "g.75356194G>A" "" "VUS" "" "0000555500" "0" "50" "15" "75644547" "75644547" "subst" "0" "01943" "MAN2C1_000002" "g.75644547A>T" "" "" "" "NEIL1(NM_024608.3):c.530A>T (p.Y177F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75352206A>T" "" "VUS" "" "0000555501" "0" "30" "15" "75648381" "75648381" "subst" "0.000298054" "01804" "MAN2C1_000003" "g.75648381A>G" "" "" "" "MAN2C1(NM_006715.4):c.2997-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75356040A>G" "" "likely benign" "" "0000555502" "0" "30" "15" "75652901" "75652902" "del" "2.44573E-5" "01804" "MAN2C1_000004" "g.75652901_75652902del" "" "" "" "MAN2C1(NM_001256494.1):c.1584+4_1584+5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75360560_75360561del" "" "likely benign" "" "0000555503" "0" "70" "15" "75656523" "75656523" "subst" "0.000549268" "01804" "MAN2C1_000005" "g.75656523C>T" "" "" "" "MAN2C1(NM_006715.4):c.607G>A (p.(Gly203Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75364182C>T" "" "likely pathogenic" "" "0000555504" "0" "50" "15" "75656954" "75656954" "subst" "0" "01804" "MAN2C1_000006" "g.75656954C>T" "" "" "" "MAN2C1(NM_001256494.1):c.475G>A (p.(Gly159Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75364613C>T" "" "VUS" "" "0000833777" "11" "90" "15" "75656531" "75656531" "subst" "0.0010887" "00006" "MAN2C1_000010" "g.75656531T>C" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75364190T>C" "" "pathogenic (recessive)" "" "0000833778" "11" "90" "15" "75656531" "75656531" "subst" "0.0010887" "00006" "MAN2C1_000010" "g.75656531T>C" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75364190T>C" "" "pathogenic (recessive)" "" "0000833779" "11" "90" "15" "75649179" "75649179" "subst" "0.000459114" "00006" "MAN2C1_000008" "g.75649179C>G" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75356838C>G" "" "pathogenic (recessive)" "" "0000833780" "11" "90" "15" "75649179" "75649179" "subst" "0.000459114" "00006" "MAN2C1_000008" "g.75649179C>G" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75356838C>G" "" "pathogenic (recessive)" "" "0000833781" "3" "90" "15" "75656523" "75656523" "subst" "0.000549268" "00006" "MAN2C1_000005" "g.75656523C>T" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75364182C>T" "" "pathogenic (recessive)" "" "0000833782" "11" "90" "15" "75656531" "75656531" "subst" "0.0010887" "00006" "MAN2C1_000010" "g.75656531T>C" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75364190T>C" "" "pathogenic (recessive)" "" "0000833783" "21" "90" "15" "75650903" "75650903" "subst" "0.00325421" "00006" "MAN2C1_000009" "g.75650903C>T" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75358562C>T" "" "pathogenic (recessive)" "" "0000833784" "21" "90" "15" "75650903" "75650903" "subst" "0.00325421" "00006" "MAN2C1_000009" "g.75650903C>T" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75358562C>T" "" "pathogenic (recessive)" "" "0000833785" "21" "90" "15" "75648952" "75648953" "del" "0" "00006" "MAN2C1_000007" "g.75648952_75648953del" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75356611_75356612del" "" "pathogenic (recessive)" "" "0000833786" "21" "90" "15" "75648952" "75648953" "del" "0" "00006" "MAN2C1_000007" "g.75648952_75648953del" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75356611_75356612del" "" "pathogenic (recessive)" "" "0000833787" "21" "90" "15" "75649179" "75649179" "subst" "0.000459114" "00006" "MAN2C1_000008" "g.75649179C>G" "" "{PMID:Maia 2022:35045343}" "" "" "" "Germline" "" "" "0" "" "" "g.75356838C>G" "" "pathogenic (recessive)" "" "0000892277" "0" "50" "15" "75649207" "75649207" "subst" "0.000101586" "02327" "NEIL1_000003" "g.75649207C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892278" "0" "50" "15" "75649215" "75649215" "subst" "0" "02329" "NEIL1_000004" "g.75649215G>A" "" "" "" "MAN2C1(NM_001256494.1):c.2627C>T (p.S876L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892279" "0" "50" "15" "75651094" "75651094" "subst" "0.00018696" "02327" "NEIL1_000005" "g.75651094G>A" "" "" "" "MAN2C1(NM_001256494.1):c.2248C>T (p.(Pro750Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892280" "0" "50" "15" "75652240" "75652240" "subst" "0.00039885" "02329" "NEIL1_000006" "g.75652240T>C" "" "" "" "MAN2C1(NM_001256494.1):c.1792+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914369" "0" "30" "15" "75648650" "75648650" "subst" "0.044066" "01804" "NEIL1_000007" "g.75648650C>T" "" "" "" "MAN2C1(NM_001256494.1):c.2929G>A (p.(Val977Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914370" "0" "90" "15" "75653031" "75653031" "subst" "0" "02325" "MAN2C1_000011" "g.75653031T>C" "" "" "" "MAN2C1(NM_001256494.2):c.1461-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914371" "0" "70" "15" "75656531" "75656531" "subst" "0.0010887" "01804" "MAN2C1_000010" "g.75656531T>C" "" "" "" "MAN2C1(NM_001256494.1):c.601-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926036" "0" "50" "15" "75652240" "75652240" "subst" "0.00039885" "01804" "NEIL1_000006" "g.75652240T>C" "" "" "" "MAN2C1(NM_001256494.1):c.1792+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926037" "0" "30" "15" "75653520" "75653520" "subst" "8.71044E-5" "01804" "MAN2C1_000012" "g.75653520C>T" "" "" "" "MAN2C1(NM_001256494.1):c.1327G>A (p.(Val443Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926038" "0" "30" "15" "75659871" "75659871" "subst" "4.0622E-6" "01804" "SIN3A_000028" "g.75659871C>T" "" "" "" "MAN2C1(NM_001256494.1):c.332G>A (p.(Arg111His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930433" "0" "50" "15" "75651094" "75651094" "subst" "0.00018696" "01804" "NEIL1_000005" "g.75651094G>A" "" "" "" "MAN2C1(NM_001256494.1):c.2248C>T (p.(Pro750Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000945925" "0" "50" "15" "75649173" "75649173" "subst" "0" "03779" "MAN2C1_000013" "g.75649173T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs776736788" "0" "" "" "" "" "VUS" "" "0000945926" "0" "50" "15" "75660458" "75660458" "subst" "1.3149E-5" "03779" "MAN2C1_000014" "g.75660458C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs758363056" "0" "" "" "" "" "VUS" "" "0000981413" "0" "50" "15" "75652297" "75652297" "subst" "0" "01804" "NEIL1_000008" "g.75652297A>G" "" "" "" "MAN2C1(NM_006715.4):c.1739T>C (p.(Val580Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981414" "0" "50" "15" "75655069" "75655069" "subst" "3.65937E-5" "01804" "MAN2C1_000015" "g.75655069C>T" "" "" "" "MAN2C1(NM_006715.4):c.811G>A (p.(Glu271Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981415" "0" "50" "15" "75655070" "75655070" "subst" "4.066E-5" "01804" "MAN2C1_000016" "g.75655070T>C" "" "" "" "MAN2C1(NM_006715.4):c.810A>G (p.(Lys270=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981416" "0" "50" "15" "75656924" "75656926" "del" "0" "01804" "MAN2C1_000017" "g.75656924_75656926del" "" "" "" "MAN2C1(NM_006715.4):c.506_508del (p.(Lys169del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981417" "0" "70" "15" "75658862" "75658862" "subst" "0.000236495" "02325" "MAN2C1_000018" "g.75658862C>T" "" "" "" "MAN2C1(NM_001256494.2):c.422+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981418" "0" "30" "15" "75660407" "75660407" "subst" "8.8817E-6" "01804" "MAN2C1_000019" "g.75660407T>A" "" "" "" "MAN2C1(NM_006715.4):c.227+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001670" "0" "50" "15" "75664438" "75664438" "subst" "0" "01804" "MAN2C1_000020" "g.75664438A>C" "" "" "" "SIN3A(NM_001145358.1):c.3704T>G (p.(Met1235Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001671" "0" "30" "15" "75664522" "75664522" "subst" "0" "01804" "MAN2C1_000021" "g.75664522T>C" "" "" "" "SIN3A(NM_001145358.1):c.3620A>G (p.(His1207Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040570" "0" "30" "15" "75648353" "75648353" "subst" "8.15388E-6" "01804" "NEIL1_000009" "g.75648353G>C" "" "" "" "MAN2C1(NM_006715.4):c.3017C>G (p.(Pro1006Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040571" "0" "30" "15" "75648441" "75648441" "subst" "2.03704E-5" "01804" "NEIL1_000010" "g.75648441C>T" "" "" "" "MAN2C1(NM_006715.4):c.2996+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040572" "0" "50" "15" "75648547" "75648557" "dup" "0" "01804" "NEIL1_000011" "g.75648547_75648557dup" "" "" "" "MAN2C1(NM_006715.4):c.2890_2900dup (p.(Gln968Argfs*11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040573" "0" "50" "15" "75649021" "75649021" "subst" "6.14948E-5" "01804" "NEIL1_000012" "g.75649021C>T" "" "" "" "MAN2C1(NM_006715.4):c.2663G>A (p.(Arg888Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040574" "0" "50" "15" "75649189" "75649189" "subst" "6.90692E-5" "01804" "NEIL1_000013" "g.75649189G>A" "" "" "" "MAN2C1(NM_006715.4):c.2602C>T (p.(Leu868Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040575" "0" "30" "15" "75650794" "75650794" "subst" "0.000281004" "01804" "NEIL1_000014" "g.75650794C>G" "" "" "" "MAN2C1(NM_006715.4):c.2403+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040576" "0" "50" "15" "75651512" "75651512" "subst" "0" "01804" "NEIL1_000015" "g.75651512T>C" "" "" "" "MAN2C1(NM_001256494.2):c.2080A>G (p.(Arg694Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040577" "0" "50" "15" "75652907" "75652907" "subst" "0.00222021" "01804" "MAN2C1_000022" "g.75652907T>A" "" "" "" "MAN2C1(NM_006715.4):c.1583A>T (p.(Gln528Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040578" "0" "50" "15" "75653445" "75653445" "subst" "0" "01804" "MAN2C1_000023" "g.75653445G>A" "" "" "" "MAN2C1(NM_006715.4):c.1402C>T (p.(Pro468Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040579" "0" "50" "15" "75653668" "75653668" "subst" "0" "01804" "MAN2C1_000024" "g.75653668G>C" "" "" "" "MAN2C1(NM_006715.4):c.1273C>G (p.(Pro425Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040580" "0" "50" "15" "75653996" "75653996" "subst" "0.0016612" "01804" "MAN2C1_000025" "g.75653996G>C" "" "" "" "MAN2C1(NM_006715.4):c.1167C>G (p.(Ile389Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040581" "0" "50" "15" "75653998" "75653998" "subst" "4.07146E-6" "01804" "MAN2C1_000026" "g.75653998T>A" "" "" "" "MAN2C1(NM_006715.4):c.1165A>T (p.(Ile389Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040582" "0" "50" "15" "75654678" "75654678" "subst" "2.03673E-5" "01804" "MAN2C1_000027" "g.75654678A>C" "" "" "" "MAN2C1(NM_006715.4):c.1008+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040583" "0" "70" "15" "75658862" "75658862" "subst" "0.000236495" "02327" "MAN2C1_000018" "g.75658862C>T" "" "" "" "MAN2C1(NM_001256494.2):c.422+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040584" "0" "50" "15" "75659923" "75659923" "subst" "0" "01804" "MAN2C1_000028" "g.75659923C>T" "" "" "" "MAN2C1(NM_006715.4):c.280G>A (p.(Gly94Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040585" "0" "30" "15" "75664462" "75664462" "subst" "7.31006E-5" "01804" "MAN2C1_000029" "g.75664462G>A" "" "" "" "SIN3A(NM_001145358.2):c.3680C>T (p.(Ala1227Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055205" "0" "50" "15" "75648559" "75648559" "subst" "2.46481E-5" "01804" "NEIL1_000016" "g.75648559G>A" "" "" "" "MAN2C1(NM_006715.4):c.2888C>T (p.(Ala963Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055206" "0" "50" "15" "75648754" "75648754" "subst" "2.98245E-5" "01804" "NEIL1_000017" "g.75648754T>C" "" "" "" "MAN2C1(NM_006715.4):c.2774A>G (p.(Tyr925Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055207" "0" "50" "15" "75656882" "75656882" "subst" "6.80984E-5" "01804" "MAN2C1_000030" "g.75656882G>T" "" "" "" "MAN2C1(NM_006715.4):c.547C>A (p.(Arg183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055208" "0" "50" "15" "75656939" "75656939" "subst" "3.26717E-5" "01804" "MAN2C1_000031" "g.75656939C>T" "" "" "" "MAN2C1(NM_006715.4):c.490G>A (p.(Ala164Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055209" "0" "30" "15" "75660818" "75660818" "subst" "0.00016243" "01804" "MAN2C1_000032" "g.75660818C>T" "" "" "" "MAN2C1(NM_006715.4):c.101+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055210" "0" "30" "15" "75664471" "75664471" "subst" "6.90445E-5" "01804" "MAN2C1_000033" "g.75664471C>T" "" "" "" "SIN3A(NM_001145358.2):c.3671G>A (p.(Arg1224His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MAN2C1 ## Count = 60 "{{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}}" "0000480527" "00025682" "70" "2912" "0" "2912" "0" "c.2912C>T" "r.(?)" "p.(Ser971Leu)" "" "0000555500" "00025682" "50" "6823" "0" "6823" "0" "c.*3700T>A" "r.(=)" "p.(=)" "" "0000555501" "00025682" "30" "2997" "-8" "2997" "-8" "c.2997-8T>C" "r.(=)" "p.(=)" "" "0000555502" "00025682" "30" "1584" "4" "1584" "5" "c.1584+4_1584+5del" "r.spl?" "p.?" "" "0000555503" "00025682" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000555504" "00025682" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Arg)" "" "0000833777" "00025682" "90" "601" "-2" "601" "-2" "c.601-2A>G" "r.601_709del" "p.Gly201AlafsTer11" "6i" "0000833778" "00025682" "90" "601" "-2" "601" "-2" "c.601-2A>G" "r.601_709del" "p.Gly201AlafsTer11" "6i" "0000833779" "00025682" "90" "2612" "0" "2612" "0" "c.2612G>C" "r.(?)" "p.(Cys871Ser)" "" "0000833780" "00025682" "90" "2612" "0" "2612" "0" "c.2612G>C" "r.(?)" "p.(Cys871Ser)" "" "0000833781" "00025682" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000833782" "00025682" "90" "601" "-2" "601" "-2" "c.601-2A>G" "r.601_709del" "p.Gly201AlafsTer11" "6i" "0000833783" "00025682" "90" "2303" "0" "2303" "0" "c.2303G>A" "r.(?)" "p.(Arg768Gln)" "" "0000833784" "00025682" "90" "2303" "0" "2303" "0" "c.2303G>A" "r.(?)" "p.(Arg768Gln)" "" "0000833785" "00025682" "90" "2733" "0" "2734" "0" "c.2733_2734del" "r.(?)" "p.(His911GlnfsTer67)" "" "0000833786" "00025682" "90" "2733" "0" "2734" "0" "c.2733_2734del" "r.(?)" "p.(His911GlnfsTer67)" "" "0000833787" "00025682" "90" "2612" "0" "2612" "0" "c.2612G>C" "r.(?)" "p.(Cys871Ser)" "" "0000892277" "00025682" "50" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Gly862Ser)" "" "0000892278" "00025682" "50" "2576" "0" "2576" "0" "c.2576C>T" "r.(?)" "p.(Ser859Leu)" "" "0000892279" "00025682" "50" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Pro733Ser)" "" "0000892280" "00025682" "50" "1792" "4" "1792" "4" "c.1792+4A>G" "r.spl?" "p.?" "" "0000914369" "00025682" "30" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Val960Ile)" "" "0000914370" "00025682" "90" "1461" "-2" "1461" "-2" "c.1461-2A>G" "r.spl?" "p.?" "" "0000914371" "00025682" "70" "601" "-2" "601" "-2" "c.601-2A>G" "r.spl?" "p.?" "" "0000926036" "00025682" "50" "1792" "4" "1792" "4" "c.1792+4A>G" "r.spl?" "p.?" "" "0000926037" "00025682" "30" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Val443Met)" "" "0000926038" "00025682" "30" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111His)" "" "0000930433" "00025682" "50" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Pro733Ser)" "" "0000945925" "00025682" "50" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Tyr873Cys)" "" "0000945926" "00025682" "50" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Gln61His)" "" "0000981413" "00025682" "50" "1739" "0" "1739" "0" "c.1739T>C" "r.(?)" "p.(Val580Ala)" "" "0000981414" "00025682" "50" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Glu271Lys)" "" "0000981415" "00025682" "50" "810" "0" "810" "0" "c.810A>G" "r.(?)" "p.(=)" "" "0000981416" "00025682" "50" "506" "0" "508" "0" "c.506_508del" "r.(?)" "p.(Lys169del)" "" "0000981417" "00025682" "70" "422" "1" "422" "1" "c.422+1G>A" "r.spl?" "p.?" "" "0000981418" "00025682" "30" "227" "7" "227" "7" "c.227+7A>T" "r.(=)" "p.(=)" "" "0001001670" "00025682" "50" "-3514" "0" "-3514" "0" "c.-3514T>G" "r.(?)" "p.(=)" "" "0001001671" "00025682" "30" "-3598" "0" "-3598" "0" "c.-3598A>G" "r.(?)" "p.(=)" "" "0001040570" "00025682" "30" "3017" "0" "3017" "0" "c.3017C>G" "r.(?)" "p.(Pro1006Arg)" "" "0001040571" "00025682" "30" "2996" "10" "2996" "10" "c.2996+10G>A" "r.(=)" "p.(=)" "" "0001040572" "00025682" "50" "2890" "0" "2900" "0" "c.2890_2900dup" "r.(?)" "p.(Gln968Argfs*11)" "" "0001040573" "00025682" "50" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.(Arg888Gln)" "" "0001040574" "00025682" "50" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Leu868Phe)" "" "0001040575" "00025682" "30" "2403" "9" "2403" "9" "c.2403+9G>C" "r.(=)" "p.(=)" "" "0001040576" "00025682" "50" "2047" "-18" "2047" "-18" "c.2047-18A>G" "r.(=)" "p.(=)" "" "0001040577" "00025682" "50" "1583" "0" "1583" "0" "c.1583A>T" "r.(?)" "p.(Gln528Leu)" "" "0001040578" "00025682" "50" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Pro468Ser)" "" "0001040579" "00025682" "50" "1273" "0" "1273" "0" "c.1273C>G" "r.(?)" "p.(Pro425Ala)" "" "0001040580" "00025682" "50" "1167" "0" "1167" "0" "c.1167C>G" "r.(?)" "p.(Ile389Met)" "" "0001040581" "00025682" "50" "1165" "0" "1165" "0" "c.1165A>T" "r.(?)" "p.(Ile389Phe)" "" "0001040582" "00025682" "50" "1008" "6" "1008" "6" "c.1008+6T>G" "r.(=)" "p.(=)" "" "0001040583" "00025682" "70" "422" "1" "422" "1" "c.422+1G>A" "r.spl?" "p.?" "" "0001040584" "00025682" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0001040585" "00025682" "30" "-3538" "0" "-3538" "0" "c.-3538C>T" "r.(?)" "p.(=)" "" "0001055205" "00025682" "50" "2888" "0" "2888" "0" "c.2888C>T" "r.(?)" "p.(Ala963Val)" "" "0001055206" "00025682" "50" "2774" "0" "2774" "0" "c.2774A>G" "r.(?)" "p.(Tyr925Cys)" "" "0001055207" "00025682" "50" "547" "0" "547" "0" "c.547C>A" "r.(?)" "p.(=)" "" "0001055208" "00025682" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "" "0001055209" "00025682" "30" "101" "6" "101" "6" "c.101+6G>A" "r.(=)" "p.(=)" "" "0001055210" "00025682" "30" "-3547" "0" "-3547" "0" "c.-3547G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000232511" "0000480527" "0000400784" "0000833777" "0000400784" "0000833783" "0000400785" "0000833778" "0000400785" "0000833784" "0000400786" "0000833779" "0000400786" "0000833785" "0000400787" "0000833780" "0000400787" "0000833786" "0000400788" "0000833781" "0000400789" "0000833782" "0000400789" "0000833787"