### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XYLT2) # 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}}" "XYLT2" "xylosyltransferase II" "17" "q21.33" "unknown" "NG_012175.1" "UD_132118258110" "" "https://www.LOVD.nl/XYLT2" "" "1" "15517" "64132" "608125" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/XYLT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-25 16:15:07" "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}}" "00022950" "XYLT2" "xylosyltransferase II" "001" "NM_022167.2" "" "NP_071450.2" "" "" "" "-109" "3458" "2598" "48423393" "48438512" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02035" "PXE" "pseudoxanthoma elasticum (PXE)" "AR" "264800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05069" "SOS" "Spondyloocular syndrome (SOS)" "AR" "605822" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "XYLT2" "02035" "XYLT2" "05069" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00210025" "" "" "" "1" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210026" "" "" "" "1" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210027" "" "" "" "1" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210028" "" "" "" "1" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210029" "" "" "" "3" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210030" "" "" "" "48" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210031" "" "" "" "34" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210032" "" "" "" "1" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210033" "" "" "" "32" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210034" "" "" "" "5" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210035" "" "" "" "5" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210036" "" "" "" "3" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210037" "" "" "" "42" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00210038" "" "" "" "44" "" "00006" "{PMID:Schön 2006:16571645}" "analysis 64 PXE cases" "" "" "Germany" "" "0" "" "" "" "16571645-Pats" "00377295" "" "" "" "1" "" "03128" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00210025" "02035" "00210026" "02035" "00210027" "02035" "00210028" "02035" "00210029" "02035" "00210030" "02035" "00210031" "02035" "00210032" "02035" "00210033" "02035" "00210034" "02035" "00210035" "02035" "00210036" "02035" "00210037" "02035" "00210038" "02035" "00377295" "05069" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02035, 05069 ## Count = 1 "{{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}}" "0000272447" "05069" "00377295" "03128" "Familial, autosomal recessive" "09y" "" "" "09y" "" "" "" "" "" "spondylo ocular syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211082" "00210025" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211083" "00210026" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211084" "00210027" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211085" "00210028" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211086" "00210029" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211087" "00210030" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211088" "00210031" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211089" "00210032" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211090" "00210033" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211091" "00210034" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211092" "00210035" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211093" "00210036" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211094" "00210037" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211095" "00210038" "1" "00006" "00006" "2018-12-25 15:48:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000378497" "00377295" "1" "03128" "03128" "2021-07-20 10:38:25" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000211082" "XYLT2" "0000211083" "XYLT2" "0000211084" "XYLT2" "0000211085" "XYLT2" "0000211086" "XYLT2" "0000211087" "XYLT2" "0000211088" "XYLT2" "0000211089" "XYLT2" "0000211090" "XYLT2" "0000211091" "XYLT2" "0000211092" "XYLT2" "0000211093" "XYLT2" "0000211094" "XYLT2" "0000211095" "XYLT2" "0000378497" "XYLT2" ## 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 = 63 "{{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}}" "0000442502" "0" "10" "17" "48423422" "48423422" "del" "0" "00006" "XYLT2_000002" "g.48423422del" "" "{PMID:Schön 2006:16571645}" "" "IVS1-86delG" "" "Germline" "" "" "0" "" "" "g.50346061del" "" "benign" "" "0000442503" "0" "10" "17" "48423418" "48423418" "subst" "0" "00006" "XYLT2_000001" "g.48423418G>A" "" "{PMID:Schön 2006:16571645}" "" "IVS1-84G>A" "" "Germline" "" "rs9912067" "0" "" "" "g.50346057G>A" "" "benign" "" "0000442504" "0" "10" "17" "48423430" "48423430" "subst" "0" "00006" "XYLT2_000003" "g.48423430G>C" "" "{PMID:Schön 2006:16571645}" "" "" "" "Germline" "" "" "0" "" "IVS1-72G>C" "g.50346069G>C" "" "benign" "" "0000442505" "0" "10" "17" "48423467" "48423467" "subst" "0.00025181" "00006" "XYLT2_000004" "g.48423467G>C" "" "{PMID:Schön 2006:16571645}" "" "IVS1-35G>C" "" "Germline" "" "" "0" "" "" "g.50346106G>C" "" "benign" "" "0000442506" "0" "10" "17" "48431021" "48431021" "subst" "0.00923204" "00006" "XYLT2_000005" "g.48431021G>A" "3/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "" "" "Germline" "" "" "0" "" "" "g.50353660G>A" "" "benign" "" "0000442507" "0" "10" "17" "48431032" "48431032" "subst" "0.201702" "00006" "XYLT2_000006" "g.48431032G>A" "96/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "" "" "Germline" "" "rs739990" "0" "" "" "g.50353671G>A" "" "benign" "" "0000442508" "0" "10" "17" "48431197" "48431197" "subst" "0.206003" "00006" "XYLT2_000007" "g.48431197C>T" "34/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "342T>C" "" "Germline" "" "rs739989" "0" "" "" "g.50353836C>T" "" "benign" "" "0000442509" "0" "10" "17" "48431199" "48431199" "subst" "1.92406E-5" "00006" "XYLT2_000008" "g.48431199C>T" "1/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "" "" "Germline" "" "" "0" "" "" "g.50353838C>T" "" "benign" "" "0000442510" "0" "10" "17" "48432324" "48432324" "subst" "0.206671" "00006" "XYLT2_000009" "g.48432324G>C" "32/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "914C>G" "" "Germline" "" "rs12451299" "0" "" "" "g.50354963G>C" "" "benign" "" "0000442511" "0" "10" "17" "48433437" "48433437" "subst" "0" "00006" "XYLT2_000010" "g.48433437T>C" "5/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "IVS6-9T>C" "" "Germline" "" "" "0" "" "" "g.50356076T>C" "" "benign" "" "0000442512" "0" "10" "17" "48433432" "48433433" "ins" "0" "00006" "XYLT2_000011" "g.48433432_48433433insG" "5/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "IVS6-14_IVS6-13insG" "" "Germline" "" "" "0" "" "" "g.50356071_50356072insG" "" "benign" "" "0000442513" "0" "10" "17" "48433306" "48433306" "subst" "0.0171408" "00006" "XYLT2_000012" "g.48433306C>T" "3/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "" "" "Germline" "" "" "0" "" "" "g.50355945C>T" "" "benign" "" "0000442514" "0" "10" "17" "48433958" "48433958" "subst" "0.440819" "00006" "XYLT2_000013" "g.48433958T>C" "67/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "1569C>T" "" "Germline" "" "rs4794136" "0" "" "" "g.50356597T>C" "" "benign" "" "0000442515" "0" "10" "17" "48437456" "48437456" "subst" "0.331201" "00006" "XYLT2_000014" "g.48437456C>G" "44/130 chromosomes" "{PMID:Schön 2006:16571645}" "" "" "" "Germline" "" "rs6504649" "0" "" "" "g.50360095C>G" "" "benign" "" "0000562227" "0" "30" "17" "48431067" "48431067" "subst" "2.48157E-5" "01804" "XYLT2_000016" "g.48431067G>A" "" "" "" "XYLT2(NM_022167.2):c.212G>A (p.(Arg71Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50353706G>A" "" "likely benign" "" "0000562229" "0" "30" "17" "48432292" "48432292" "subst" "4.29524E-6" "01804" "XYLT2_000018" "g.48432292G>A" "" "" "" "XYLT2(NM_022167.2):c.882G>A (p.(Met294Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50354931G>A" "" "likely benign" "" "0000562230" "0" "30" "17" "48433306" "48433306" "subst" "0.0171408" "01804" "XYLT2_000012" "g.48433306C>T" "" "" "" "XYLT2(NM_022167.2):c.1253C>T (p.(Pro418Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50355945C>T" "" "likely benign" "" "0000562231" "0" "30" "17" "48437356" "48437356" "subst" "4.19031E-6" "01804" "XYLT2_000019" "g.48437356C>A" "" "" "" "XYLT2(NM_022167.2):c.2302C>A (p.(Pro768Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50359995C>A" "" "likely benign" "" "0000616682" "0" "10" "17" "48431021" "48431021" "subst" "0.00923204" "01804" "XYLT2_000005" "g.48431021G>A" "" "" "" "XYLT2(NM_022167.2):c.166G>A (p.(Asp56Asn)), XYLT2(NM_022167.4):c.166G>A (p.D56N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50353660G>A" "" "benign" "" "0000616683" "0" "30" "17" "48434513" "48434513" "subst" "0.000700708" "01804" "XYLT2_000020" "g.48434513C>T" "" "" "" "XYLT2(NM_022167.2):c.1841C>T (p.(Ala614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50357152C>T" "" "likely benign" "" "0000623711" "0" "10" "17" "48431032" "48431032" "subst" "0.201702" "02329" "XYLT2_000006" "g.48431032G>A" "" "" "" "XYLT2(NM_022167.4):c.177G>A (p.E59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50353671G>A" "" "benign" "" "0000623712" "0" "10" "17" "48431197" "48431197" "subst" "0.206003" "02329" "XYLT2_000007" "g.48431197C>T" "" "" "" "XYLT2(NM_022167.4):c.342C>T (p.P114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50353836C>T" "" "benign" "" "0000623713" "0" "10" "17" "48432324" "48432324" "subst" "0.206671" "02329" "XYLT2_000009" "g.48432324G>C" "" "" "" "XYLT2(NM_022167.4):c.914G>C (p.R305T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50354963G>C" "" "benign" "" "0000623714" "0" "10" "17" "48433958" "48433958" "subst" "0.440819" "02329" "XYLT2_000013" "g.48433958T>C" "" "" "" "XYLT2(NM_022167.4):c.1569T>C (p.Y523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50356597T>C" "" "benign" "" "0000692395" "0" "50" "17" "48431466" "48431466" "subst" "2.14559E-5" "01943" "XYLT2_000021" "g.48431466G>A" "" "" "" "XYLT2(NM_022167.3):c.611G>A (p.R204Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50354105G>A" "" "VUS" "" "0000692396" "0" "50" "17" "48434482" "48434482" "subst" "0" "01804" "XYLT2_000022" "g.48434482T>C" "" "" "" "XYLT2(NM_022167.2):c.1810T>C (p.(Tyr604His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50357121T>C" "" "VUS" "" "0000726505" "0" "30" "17" "48433913" "48433913" "subst" "2.44423E-5" "01943" "XYLT2_000023" "g.48433913G>A" "" "" "" "XYLT2(NM_022167.3):c.1524G>A (p.S508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50356552G>A" "" "likely benign" "" "0000726506" "0" "10" "17" "48437456" "48437456" "subst" "0.331201" "02329" "XYLT2_000014" "g.48437456C>G" "" "" "" "XYLT2(NM_022167.4):c.2402C>G (p.T801R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50360095C>G" "" "benign" "" "0000791283" "0" "90" "17" "48433975" "48433975" "dup" "0" "03128" "XYLT2_000024" "g.48433975dup" "" "" "" "1586dupG" "" "Germline" "" "" "0" "" "" "g.50356614dup" "" "pathogenic" "" "0000808088" "0" "30" "17" "48431094" "48431094" "subst" "0" "01804" "XYLT2_000025" "g.48431094G>T" "" "" "" "XYLT2(NM_022167.2):c.239G>T (p.(Arg80Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808089" "0" "30" "17" "48433989" "48433989" "subst" "0.000121899" "01804" "XYLT2_000026" "g.48433989A>G" "" "" "" "XYLT2(NM_022167.2):c.1600A>G (p.(Lys534Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808090" "0" "30" "17" "48435648" "48435648" "subst" "0.00010185" "01943" "XYLT2_000027" "g.48435648C>T" "" "" "" "XYLT2(NM_022167.3):c.2022C>T (p.A674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808091" "0" "30" "17" "48435649" "48435649" "subst" "0.000142539" "01804" "XYLT2_000028" "g.48435649G>T" "" "" "" "XYLT2(NM_022167.2):c.2023G>T (p.(Val675Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854994" "0" "10" "17" "48431021" "48431021" "subst" "0.00923204" "02329" "XYLT2_000005" "g.48431021G>A" "" "" "" "XYLT2(NM_022167.2):c.166G>A (p.(Asp56Asn)), XYLT2(NM_022167.4):c.166G>A (p.D56N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865356" "0" "30" "17" "48431214" "48431214" "subst" "0.00539184" "01804" "XYLT2_000029" "g.48431214G>A" "" "" "" "XYLT2(NM_022167.2):c.359G>A (p.(Arg120His)), XYLT2(NM_022167.4):c.359G>A (p.R120H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865357" "0" "30" "17" "48432221" "48432221" "subst" "0.000102256" "01804" "XYLT2_000030" "g.48432221G>A" "" "" "" "XYLT2(NM_022167.2):c.811G>A (p.(Asp271Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865358" "0" "10" "17" "48433128" "48433129" "ins" "0.00969176" "02329" "XYLT2_000031" "g.48433128_48433129insG" "" "" "" "XYLT2(NM_022167.4):c.1089-14_1089-13insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865359" "0" "10" "17" "48433133" "48433133" "subst" "0.00965136" "02329" "XYLT2_000032" "g.48433133T>C" "" "" "" "XYLT2(NM_022167.4):c.1089-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894035" "0" "10" "17" "48431214" "48431214" "subst" "0.00539184" "02329" "XYLT2_000029" "g.48431214G>A" "" "" "" "XYLT2(NM_022167.2):c.359G>A (p.(Arg120His)), XYLT2(NM_022167.4):c.359G>A (p.R120H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894036" "0" "30" "17" "48434008" "48434008" "subst" "0.000996283" "02329" "XYLT2_000033" "g.48434008C>T" "" "" "" "XYLT2(NM_022167.4):c.1619C>T (p.T540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894037" "0" "30" "17" "48435661" "48435661" "subst" "4.06812E-6" "01804" "XYLT2_000034" "g.48435661G>A" "" "" "" "XYLT2(NM_022167.2):c.2035G>A (p.(Ala679Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914893" "0" "30" "17" "48431013" "48431013" "subst" "5.35077E-5" "01804" "XYLT2_000035" "g.48431013G>A" "" "" "" "XYLT2(NM_022167.2):c.158G>A (p.(Arg53Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914894" "0" "10" "17" "48435649" "48435649" "subst" "0.000965196" "02329" "XYLT2_000036" "g.48435649G>A" "" "" "" "XYLT2(NM_022167.4):c.2023G>A (p.V675M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926550" "0" "30" "17" "48431068" "48431068" "subst" "0" "02329" "XYLT2_000037" "g.48431068G>T" "" "" "" "XYLT2(NM_022167.4):c.213G>T (p.R71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926551" "0" "30" "17" "48433886" "48433886" "subst" "0" "01804" "XYLT2_000038" "g.48433886C>T" "" "" "" "XYLT2(NM_022167.2):c.1497C>T (p.(Pro499=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926552" "0" "30" "17" "48434493" "48434493" "subst" "0.000382792" "02329" "XYLT2_000039" "g.48434493G>A" "" "" "" "XYLT2(NM_022167.4):c.1821G>A (p.T607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926553" "0" "30" "17" "48435670" "48435670" "subst" "4.06557E-6" "01804" "XYLT2_000040" "g.48435670C>A" "" "" "" "XYLT2(NM_022167.2):c.2044C>A (p.(Pro682Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930818" "0" "30" "17" "48423486" "48423486" "subst" "0" "01804" "XYLT2_000041" "g.48423486C>T" "" "" "" "XYLT2(NM_022167.2):c.-16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950948" "0" "30" "17" "48433973" "48433973" "subst" "5.28155E-5" "02329" "XYLT2_000042" "g.48433973C>T" "" "" "" "XYLT2(NM_022167.4):c.1584C>T (p.P528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982621" "0" "50" "17" "48431901" "48431901" "subst" "2.8513E-5" "01804" "XYLT2_000043" "g.48431901C>T" "" "" "" "XYLT2(NM_022167.4):c.761C>T (p.(Ala254Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982622" "0" "50" "17" "48432423" "48432423" "subst" "1.71642E-5" "01804" "XYLT2_000044" "g.48432423G>A" "" "" "" "XYLT2(NM_022167.4):c.1007+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017385" "0" "30" "17" "48437436" "48437436" "subst" "0" "03779" "XYLT2_000045" "g.48437436G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001026980" "0" "30" "17" "48431308" "48431308" "subst" "0.00036408" "02329" "XYLT2_000046" "g.48431308C>T" "" "" "" "XYLT2(NM_022167.4):c.453C>T (p.P151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026981" "0" "30" "17" "48433852" "48433852" "subst" "0.000564995" "02329" "XYLT2_000047" "g.48433852C>T" "" "" "" "XYLT2(NM_022167.4):c.1483-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026982" "0" "10" "17" "48434517" "48434517" "subst" "0.00446134" "02329" "XYLT2_000048" "g.48434517G>C" "" "" "" "XYLT2(NM_022167.4):c.1845G>C (p.Q615H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026983" "0" "30" "17" "48437445" "48437445" "subst" "0.000866467" "02329" "XYLT2_000049" "g.48437445C>T" "" "" "" "XYLT2(NM_022167.4):c.2391C>T (p.A797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041964" "0" "30" "17" "48423516" "48423516" "subst" "0.00042273" "02329" "XYLT2_000050" "g.48423516G>A" "" "" "" "XYLT2(NM_022167.4):c.15G>A (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041965" "0" "50" "17" "48423535" "48423535" "subst" "0" "01804" "XYLT2_000051" "g.48423535C>T" "" "" "" "XYLT2(NM_022167.4):c.34C>T (p.(Arg12Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041966" "0" "50" "17" "48431838" "48431838" "subst" "8.56241E-5" "01804" "XYLT2_000052" "g.48431838G>A" "" "" "" "XYLT2(NM_022167.4):c.698G>A (p.(Arg233Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041967" "0" "50" "17" "48433494" "48433494" "subst" "2.84259E-5" "01804" "XYLT2_000053" "g.48433494G>A" "" "" "" "XYLT2(NM_022167.4):c.1354G>A (p.(Val452Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056075" "0" "50" "17" "48423536" "48423536" "subst" "0" "01804" "XYLT2_000054" "g.48423536G>A" "" "" "" "XYLT2(NM_022167.4):c.35G>A (p.(Arg12Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056076" "0" "50" "17" "48433625" "48433625" "subst" "0" "01804" "XYLT2_000055" "g.48433625G>A" "" "" "" "XYLT2(NM_022167.4):c.1482+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056077" "0" "50" "17" "48434445" "48434445" "subst" "2.46336E-5" "01804" "XYLT2_000056" "g.48434445C>A" "" "" "" "XYLT2(NM_022167.4):c.1773C>A (p.(Ser591Arg))" "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 XYLT2 ## Count = 63 "{{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}}" "0000442502" "00022950" "10" "-80" "0" "-80" "0" "c.-80del" "r.(?)" "p.(=)" "" "0000442503" "00022950" "10" "-84" "0" "-84" "0" "c.-84G>A" "r.(?)" "p.(=)" "" "0000442504" "00022950" "10" "-72" "0" "-72" "0" "c.-72G>C" "r.(?)" "p.(=)" "" "0000442505" "00022950" "10" "-35" "0" "-35" "0" "c.-35G>C" "r.(?)" "p.(=)" "" "0000442506" "00022950" "10" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "" "0000442507" "00022950" "10" "177" "0" "177" "0" "c.177G>A" "r.(?)" "p.(=)" "" "0000442508" "00022950" "10" "342" "0" "342" "0" "c.342C>T" "r.(=)" "p.(=)" "" "0000442509" "00022950" "10" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Pro115Leu)" "" "0000442510" "00022950" "10" "914" "0" "914" "0" "c.914G>C" "r.(?)" "p.(Arg305Thr)" "" "0000442511" "00022950" "10" "1306" "-9" "1306" "-9" "c.1306-9T>C" "r.(?)" "p.(=)" "" "0000442512" "00022950" "10" "1306" "-14" "1306" "-13" "c.1306-14_1306-13insG" "r.(?)" "p.(=)" "" "0000442513" "00022950" "10" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Pro418Leu)" "" "0000442514" "00022950" "10" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(=)" "" "0000442515" "00022950" "10" "2402" "0" "2402" "0" "c.2402C>G" "r.(?)" "p.(Thr801Arg)" "" "0000562227" "00022950" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" "" "0000562229" "00022950" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(Met294Ile)" "" "0000562230" "00022950" "30" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Pro418Leu)" "" "0000562231" "00022950" "30" "2302" "0" "2302" "0" "c.2302C>A" "r.(?)" "p.(Pro768Thr)" "" "0000616682" "00022950" "10" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "" "0000616683" "00022950" "30" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "" "0000623711" "00022950" "10" "177" "0" "177" "0" "c.177G>A" "r.(?)" "p.(Glu59=)" "" "0000623712" "00022950" "10" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Pro114=)" "" "0000623713" "00022950" "10" "914" "0" "914" "0" "c.914G>C" "r.(?)" "p.(Arg305Thr)" "" "0000623714" "00022950" "10" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(Tyr523=)" "" "0000692395" "00022950" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000692396" "00022950" "50" "1810" "0" "1810" "0" "c.1810T>C" "r.(?)" "p.(Tyr604His)" "" "0000726505" "00022950" "30" "1524" "0" "1524" "0" "c.1524G>A" "r.(?)" "p.(Ser508=)" "" "0000726506" "00022950" "10" "2402" "0" "2402" "0" "c.2402C>G" "r.(?)" "p.(Thr801Arg)" "" "0000791283" "00022950" "90" "1586" "0" "1586" "0" "c.1586dup" "r.(?)" "p.(Thr530Hisfs*16)" "8" "0000808088" "00022950" "30" "239" "0" "239" "0" "c.239G>T" "r.(?)" "p.(Arg80Leu)" "" "0000808089" "00022950" "30" "1600" "0" "1600" "0" "c.1600A>G" "r.(?)" "p.(Lys534Glu)" "" "0000808090" "00022950" "30" "2022" "0" "2022" "0" "c.2022C>T" "r.(?)" "p.(Ala674=)" "" "0000808091" "00022950" "30" "2023" "0" "2023" "0" "c.2023G>T" "r.(?)" "p.(Val675Leu)" "" "0000854994" "00022950" "10" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "" "0000865356" "00022950" "30" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "0000865357" "00022950" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Asp271Asn)" "" "0000865358" "00022950" "10" "1089" "-14" "1089" "-13" "c.1089-14_1089-13insG" "r.(=)" "p.(=)" "" "0000865359" "00022950" "10" "1089" "-9" "1089" "-9" "c.1089-9T>C" "r.(=)" "p.(=)" "" "0000894035" "00022950" "10" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "0000894036" "00022950" "30" "1619" "0" "1619" "0" "c.1619C>T" "r.(?)" "p.(Thr540Ile)" "" "0000894037" "00022950" "30" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Ala679Thr)" "" "0000914893" "00022950" "30" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53Gln)" "" "0000914894" "00022950" "10" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Met)" "" "0000926550" "00022950" "30" "213" "0" "213" "0" "c.213G>T" "r.(?)" "p.(Arg71=)" "" "0000926551" "00022950" "30" "1497" "0" "1497" "0" "c.1497C>T" "r.(?)" "p.(Pro499=)" "" "0000926552" "00022950" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Thr607=)" "" "0000926553" "00022950" "30" "2044" "0" "2044" "0" "c.2044C>A" "r.(?)" "p.(Pro682Thr)" "" "0000930818" "00022950" "30" "-16" "0" "-16" "0" "c.-16C>T" "r.(?)" "p.(=)" "" "0000950948" "00022950" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(=)" "" "0000982621" "00022950" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Ala254Val)" "" "0000982622" "00022950" "50" "1007" "6" "1007" "6" "c.1007+6G>A" "r.(=)" "p.(=)" "" "0001017385" "00022950" "30" "2382" "0" "2382" "0" "c.2382G>A" "r.(?)" "p.(Glu794=)" "" "0001026980" "00022950" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(=)" "" "0001026981" "00022950" "30" "1483" "-20" "1483" "-20" "c.1483-20C>T" "r.(=)" "p.(=)" "" "0001026982" "00022950" "10" "1845" "0" "1845" "0" "c.1845G>C" "r.(?)" "p.(Gln615His)" "" "0001026983" "00022950" "30" "2391" "0" "2391" "0" "c.2391C>T" "r.(?)" "p.(=)" "" "0001041964" "00022950" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(=)" "" "0001041965" "00022950" "50" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Arg12Trp)" "" "0001041966" "00022950" "50" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233Gln)" "" "0001041967" "00022950" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Val452Met)" "" "0001056075" "00022950" "50" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Arg12Gln)" "" "0001056076" "00022950" "50" "1482" "3" "1482" "3" "c.1482+3G>A" "r.spl?" "p.?" "" "0001056077" "00022950" "50" "1773" "0" "1773" "0" "c.1773C>A" "r.(?)" "p.(Ser591Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000211082" "0000442502" "0000211083" "0000442503" "0000211084" "0000442504" "0000211085" "0000442505" "0000211086" "0000442506" "0000211087" "0000442507" "0000211088" "0000442508" "0000211089" "0000442509" "0000211090" "0000442510" "0000211091" "0000442511" "0000211092" "0000442512" "0000211093" "0000442513" "0000211094" "0000442514" "0000211095" "0000442515" "0000378497" "0000791283"