### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HPSE2) # 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}}" "HPSE2" "heparanase 2" "10" "q23-q24" "unknown" "NG_023416.1" "UD_132085268144" "" "https://www.LOVD.nl/HPSE2" "" "1" "18374" "60495" "613469" "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/HPSE2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-14 18:14:12" "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}}" "00009605" "HPSE2" "transcript variant 1" "003" "NM_021828.4" "" "NP_068600.4" "" "" "" "-73" "4276" "1779" "100995632" "100216834" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "04504" "UFS1" "urofacial syndrome, type 1 (UFS-1)" "AR" "236730" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HPSE2" "04504" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00245672" "" "" "" "1" "" "00000" "{PMID:Aydogdu 2010:19669792}" "Twin brother of IV:2" "M" "" "" "" "0" "" "" "Turkish" "" "00245673" "" "" "" "1" "" "00000" "{PMID:Aydogdu 2010:19669792}" "Twin brother of IV:1" "M" "" "" "" "0" "" "" "Turkish" "" "00245674" "" "" "" "2" "" "00000" "{PMID:Aydogdu 2010:19669792}" "Parents of IV:1and IV:2. Consanguineous family" "?" "" "" "" "0" "" "" "Turkish" "" "00245675" "" "" "" "1" "" "00000" "" "see variant\'s remarks" "M" "" "" "" "0" "" "" "French" "" "00245676" "" "" "" "1" "" "00000" "" "see variant\'s remarks" "M" "" "" "" "0" "" "" "French" "" "00245677" "" "" "" "1" "" "00000" "{PMID:Garcia-Minaur 2001:11446407}" "" "M" "" "" "" "0" "" "" "Spanish" "" "00245678" "" "" "" "2" "" "00000" "{PMID:Garcia-Minaur 2001:11446407}" "Parents of IV:1. Consanguineous family" "?" "" "" "" "0" "" "" "Spanish" "" "00245679" "" "" "" "5" "" "00000" "{PMID:Aydogdu 2010:19669792}" "" "?" "" "" "" "0" "" "" "Turkish" "" "00245680" "" "" "" "14" "" "00000" "{PMID:Aydogdu 2010:19669792}" "Parents and healty sibs. Consanguineous family" "?" "" "" "" "0" "" "" "Turkish" "" "00245681" "" "" "" "1" "" "00000" "" "Consanguineous family" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00245682" "" "" "" "1" "" "00000" "" "Sister of IV:4. Consanguineous family" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00245683" "" "" "" "1" "" "00000" "" "Brother of IV:4. Consanguineous family" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00245684" "" "" "" "4" "" "00000" "" "Parents and healty sibs of IV:4. Consanguineous family" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00245685" "" "" "" "1" "" "00000" "{PMID:Derbent 2009:19839856}" "" "F" "" "" "" "0" "" "" "Turkish" "" "00245686" "" "" "" "2" "" "00000" "{PMID:Derbent 2009:19839856}" "Parents of IV:1. Consanguineous family" "?" "" "" "" "0" "" "" "Turkish" "" "00245687" "" "" "" "1" "" "00000" "" "" "M" "" "United States" "" "0" "" "" "Irish" "" "00245688" "" "" "" "1" "" "00000" "" "" "M" "" "United States" "" "0" "" "" "Irish" "" "00245689" "" "" "" "1" "" "00000" "{PMID:Garcia-Minaur 2001:11446407}" "Sister of II:3. Strikingly different presentation" "F" "" "" "" "0" "" "" "Irish" "" "00245690" "" "" "" "1" "" "00000" "{PMID:Garcia-Minaur 2001:11446407}" "Sister of II:2. Strikingly different presentation" "F" "" "" "" "0" "" "" "Irish" "" "00245691" "" "" "" "2" "" "00000" "{PMID:Garcia-Minaur 2001:11446407}" "Parents of II:1 and II:2" "?" "" "" "" "0" "" "" "Irish" "" "00245692" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Colombian" "" "00245693" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Colombian" "" "00245694" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Colombian" "" "00245695" "" "" "" "1" "" "00000" "" "Consanguineous family" "F" "" "" "" "0" "" "" "Colombian" "" "00245696" "" "" "" "1" "" "00000" "" "Consanguineous family" "M" "" "" "" "0" "" "" "Colombian" "" "00245697" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Colombian" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00245672" "04504" "00245673" "04504" "00245674" "00000" "00245675" "04504" "00245676" "04504" "00245677" "04504" "00245678" "00000" "00245679" "04504" "00245680" "00000" "00245681" "04504" "00245682" "04504" "00245683" "04504" "00245684" "00000" "00245685" "04504" "00245686" "00000" "00245687" "04504" "00245688" "04504" "00245689" "04504" "00245690" "04504" "00245691" "00000" "00245692" "04504" "00245693" "04504" "00245694" "04504" "00245695" "04504" "00245696" "04504" "00245697" "04504" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 04504 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000246784" "00245672" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246785" "00245673" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246786" "00245674" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246787" "00245675" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246788" "00245676" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246789" "00245677" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246790" "00245678" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246791" "00245679" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246792" "00245680" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246793" "00245681" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246794" "00245682" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246795" "00245683" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246796" "00245684" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246797" "00245685" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246798" "00245686" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246799" "00245687" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246800" "00245688" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246801" "00245689" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246802" "00245690" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246803" "00245691" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246804" "00245692" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246805" "00245693" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246806" "00245694" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246807" "00245695" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246808" "00245696" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" "0000246809" "00245697" "1" "00000" "00115" "2010-08-25 11:33:02" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000246784" "HPSE2" "0000246785" "HPSE2" "0000246786" "HPSE2" "0000246787" "HPSE2" "0000246788" "HPSE2" "0000246789" "HPSE2" "0000246790" "HPSE2" "0000246791" "HPSE2" "0000246792" "HPSE2" "0000246793" "HPSE2" "0000246794" "HPSE2" "0000246795" "HPSE2" "0000246796" "HPSE2" "0000246797" "HPSE2" "0000246798" "HPSE2" "0000246799" "HPSE2" "0000246800" "HPSE2" "0000246801" "HPSE2" "0000246802" "HPSE2" "0000246803" "HPSE2" "0000246804" "HPSE2" "0000246805" "HPSE2" "0000246806" "HPSE2" "0000246807" "HPSE2" "0000246808" "HPSE2" "0000246809" "HPSE2" ## 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 = 44 "{{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}}" "0000250703" "0" "10" "10" "100503793" "100503793" "subst" "0.0129077" "02326" "HPSE2_000011" "g.100503793A>G" "" "" "" "HPSE2(NM_001166246.1):c.631T>C (p.Y211H), HPSE2(NM_021828.4):c.631T>C (p.Y211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98744036A>G" "" "benign" "" "0000253055" "0" "10" "10" "100503793" "100503793" "subst" "0.0129077" "01943" "HPSE2_000011" "g.100503793A>G" "" "" "" "HPSE2(NM_001166246.1):c.631T>C (p.Y211H), HPSE2(NM_021828.4):c.631T>C (p.Y211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98744036A>G" "" "benign" "" "0000281415" "0" "10" "10" "100219314" "100219314" "subst" "0.503258" "02325" "HPSE2_000012" "g.100219314G>A" "" "" "" "HPSE2(NM_001166246.1):c.*219C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98459557G>A" "" "benign" "" "0000281416" "0" "10" "10" "100219374" "100219374" "subst" "0.503849" "02325" "HPSE2_000013" "g.100219374T>A" "" "" "" "HPSE2(NM_021828.5):c.1736A>T (p.Y579F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98459617T>A" "" "benign" "" "0000499570" "3" "95" "10" "100995509" "100995509" "dup" "0" "00000" "HPSE2_000008" "g.100995509dup" "" "{PMID:Daly 2010:20560210}" "" "p.A20RfsX45" "" "Germline" "" "" "0" "" "" "g.99235752dup" "" "pathogenic (recessive)" "" "0000499571" "3" "95" "10" "100995509" "100995509" "dup" "0" "00000" "HPSE2_000008" "g.100995509dup" "" "{PMID:Daly 2010:20560210}" "" "p.A20RfsX45" "" "Germline" "" "" "0" "" "" "g.99235752dup" "" "pathogenic (recessive)" "" "0000499572" "3" "95" "10" "100903995" "100904156" "del" "0" "00000" "HPSE2_000006" "g.100903995_100904156del" "" "{PMID:Daly 2010:20560210}" "" "p.D150_T203del" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000499573" "3" "95" "10" "100904148" "100904148" "subst" "1.22312E-5" "00000" "HPSE2_000007" "g.100904148G>A" "" "{PMID:Daly 2010:20560210}" "" "p.R153X" "" "Germline" "" "" "0" "" "" "g.99144391G>A" "" "pathogenic (recessive)" "" "0000499574" "3" "95" "10" "0" "0" "delins" "0" "00000" "HPSE2_000001" "g.?" "" "{PMID:Daly 2010:20560210}" "" "p.V367_P440del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000499575" "3" "95" "10" "0" "0" "delins" "0" "00000" "HPSE2_000001" "g.?" "" "{PMID:Daly 2010:20560210}" "" "p.V367_P440del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000499576" "3" "95" "10" "0" "0" "delins" "0" "00000" "HPSE2_000001" "g.?" "" "{PMID:Daly 2010:20560210}" "" "p.V367_P440del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000499577" "3" "95" "10" "100249860" "100249860" "subst" "8.12222E-6" "00000" "HPSE2_000002" "g.100249860G>A" "" "{PMID:Daly 2010:20560210}" "" "p.R472X" "" "Germline" "" "" "0" "" "" "g.98490103G>A" "" "pathogenic (recessive)" "" "0000499578" "3" "95" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Pang 2010:20605132}" "" "c.1465_1466delAA" "" "Unknown" "" "" "0" "" "" "g.98490051_98490052del" "" "pathogenic (recessive)" "" "0000499579" "3" "95" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Pang 2010:20605132}" "" "c.1465_1466delAA" "" "Unknown" "" "" "0" "" "" "g.98490051_98490052del" "" "pathogenic (recessive)" "" "0000499580" "3" "95" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Daly 2010:20560210}" "" "p.N489PfsX126" "" "Germline" "" "" "0" "" "" "g.98490051_98490052del" "" "pathogenic (recessive)" "" "0000499581" "3" "95" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Daly 2010:20560210}" "" "p.N489PfsX126" "" "Germline" "" "" "0" "" "" "g.98490051_98490052del" "" "pathogenic (recessive)" "" "0000499582" "3" "95" "10" "100242490" "100242490" "subst" "1.62479E-5" "00000" "HPSE2_000004" "g.100242490G>A" "" "{PMID:Pang 2010:20605132}" "" "" "" "Unknown" "" "" "0" "" "" "g.98482733G>A" "" "pathogenic (recessive)" "" "0000499583" "3" "95" "10" "100242490" "100242490" "subst" "1.62479E-5" "00000" "HPSE2_000004" "g.100242490G>A" "" "{PMID:Pang 2010:20605132}" "" "" "" "Unknown" "" "" "0" "" "" "g.98482733G>A" "" "pathogenic (recessive)" "" "0000499584" "3" "95" "10" "100242490" "100242490" "subst" "1.62479E-5" "00000" "HPSE2_000004" "g.100242490G>A" "" "{PMID:Pang 2010:20605132}" "" "" "" "Unknown" "" "" "0" "" "" "g.98482733G>A" "" "pathogenic (recessive)" "" "0000499585" "3" "95" "10" "100242490" "100242490" "subst" "1.62479E-5" "00000" "HPSE2_000004" "g.100242490G>A" "" "{PMID:Pang 2010:20605132}" "" "" "" "Unknown" "" "" "0" "" "" "g.98482733G>A" "" "pathogenic (recessive)" "" "0000499586" "3" "95" "10" "100242490" "100242490" "subst" "1.62479E-5" "00000" "HPSE2_000004" "g.100242490G>A" "" "{PMID:Pang 2010:20605132}" "" "" "" "Unknown" "" "" "0" "" "" "g.98482733G>A" "" "pathogenic (recessive)" "" "0000499587" "3" "95" "10" "100242490" "100242490" "subst" "1.62479E-5" "00000" "HPSE2_000004" "g.100242490G>A" "" "{PMID:Pang 2010:20605132}" "" "" "" "Unknown" "" "" "0" "" "" "g.98482733G>A" "" "pathogenic (recessive)" "" "0000499588" "1" "35" "10" "100995509" "100995509" "dup" "0" "00000" "HPSE2_000008" "g.100995509dup" "" "{PMID:Daly 2010:20560210}" "" "p.A20RfsX45" "" "Germline" "" "" "0" "" "" "g.99235752dup" "" "likely benign" "" "0000499589" "1" "35" "10" "100903995" "100904156" "del" "0" "00000" "HPSE2_000006" "g.100903995_100904156del" "" "{PMID:Daly 2010:20560210}" "" "p.D150_T203del" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000499590" "1" "35" "10" "100904148" "100904148" "subst" "1.22312E-5" "00000" "HPSE2_000007" "g.100904148G>A" "" "{PMID:Daly 2010:20560210}" "" "p.R153X" "" "Germline" "" "" "0" "" "" "g.99144391G>A" "" "likely benign" "" "0000499591" "1" "35" "10" "0" "0" "delins" "0" "00000" "HPSE2_000001" "g.?" "" "{PMID:Daly 2010:20560210}" "" "p.V367_P440del" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000499592" "1" "35" "10" "100249860" "100249860" "subst" "8.12222E-6" "00000" "HPSE2_000002" "g.100249860G>A" "" "{PMID:Daly 2010:20560210}" "" "p.R472X" "" "Germline" "" "" "0" "" "" "g.98490103G>A" "" "likely benign" "" "0000499593" "1" "95" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Pang 2010:20605132}" "" "c.1465_1466delAA" "From parent with USAorigin mutation" "Unknown" "" "" "0" "" "" "g.98490051_98490052del" "" "pathogenic (recessive)" "" "0000499594" "1" "95" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Pang 2010:20605132}" "" "c.1465_1466delAA" "From parent with USAorigin mutation" "Unknown" "" "" "0" "" "" "g.98490051_98490052del" "" "pathogenic (recessive)" "" "0000499595" "1" "35" "10" "100249808" "100249809" "del" "0.000146202" "00000" "HPSE2_000003" "g.100249808_100249809del" "" "{PMID:Daly 2010:20560210}" "" "p.N489PfsX126" "" "Germline" "" "" "0" "" "" "g.98490051_98490052del" "" "likely benign" "" "0000499596" "2" "95" "10" "100995324" "100995325" "del" "0" "00000" "HPSE2_000005" "g.100995324_100995325del" "" "{PMID:Pang 2010:20605132}" "" "c.241_242delCT" "From parent with French origin mutation" "Unknown" "" "" "0" "" "" "g.99235567_99235568del" "" "pathogenic (recessive)" "" "0000499597" "2" "95" "10" "100995324" "100995325" "del" "0" "00000" "HPSE2_000005" "g.100995324_100995325del" "" "{PMID:Pang 2010:20605132}" "" "c.241_242delCT" "From parent with French origin mutation" "Unknown" "" "" "0" "" "" "g.99235567_99235568del" "" "pathogenic (recessive)" "" "0000690621" "0" "30" "10" "100249971" "100249971" "subst" "0.00076067" "02326" "HPSE2_000014" "g.100249971G>A" "" "" "" "HPSE2(NM_001166246.1):c.1321-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804242" "0" "30" "10" "100242530" "100242530" "subst" "0.00224268" "02326" "HPSE2_000015" "g.100242530G>A" "" "" "" "HPSE2(NM_021828.4):c.1476C>T (p.=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804243" "0" "30" "10" "100503620" "100503620" "subst" "0.00115017" "02326" "HPSE2_000016" "g.100503620G>A" "" "" "" "HPSE2(NM_021828.4):c.784+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804244" "0" "30" "10" "100995263" "100995263" "subst" "0.00184764" "02326" "HPSE2_000017" "g.100995263G>A" "" "" "" "HPSE2(NM_021828.4):c.290+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888956" "0" "10" "10" "100219492" "100219492" "subst" "0.00341828" "02326" "HPSE2_000018" "g.100219492C>G" "" "" "" "HPSE2(NM_021828.4):c.1618G>C (p.V540L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888957" "0" "30" "10" "100380370" "100380370" "subst" "0.0011383" "02326" "HPSE2_000019" "g.100380370A>G" "" "" "" "HPSE2(NM_021828.4):c.1194T>C (p.A398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888958" "0" "30" "10" "100481427" "100481427" "subst" "0.0031984" "02326" "HPSE2_000020" "g.100481427C>T" "" "" "" "HPSE2(NM_021828.4):c.943G>A (p.A315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929634" "0" "30" "10" "100380410" "100380410" "subst" "0.000650332" "02326" "HPSE2_000021" "g.100380410G>A" "" "" "" "HPSE2(NM_021828.4):c.1154C>T (p.T385I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965553" "0" "30" "10" "100249964" "100249964" "subst" "0.00106545" "02326" "HPSE2_000022" "g.100249964T>C" "" "" "" "HPSE2(NM_021828.4):c.1321-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965554" "0" "30" "10" "100250040" "100250049" "del" "0" "02329" "HPSE2_000023" "g.100250040_100250049del" "" "" "" "HPSE2(NM_001166246.1):c.1321-76_1321-67delGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978850" "0" "30" "10" "100503819" "100503819" "subst" "2.86449E-5" "01804" "HPSE2_000024" "g.100503819A>G" "" "" "" "HPSE2(NM_021828.5):c.611-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037667" "0" "50" "10" "100503652" "100503652" "subst" "4.06263E-6" "01804" "HPSE2_000025" "g.100503652C>G" "" "" "" "HPSE2(NM_021828.5):c.772G>C (p.(Glu258Gln))" "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 HPSE2 ## Count = 44 "{{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}}" "0000250703" "00009605" "10" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Tyr211His)" "" "0000253055" "00009605" "10" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Tyr211His)" "" "0000281415" "00009605" "10" "1796" "0" "1796" "0" "c.*17C>T" "r.(=)" "p.(=)" "" "0000281416" "00009605" "10" "1736" "0" "1736" "0" "c.1736A>T" "r.(?)" "p.(Tyr579Phe)" "" "0000499570" "00009605" "95" "57" "0" "57" "0" "c.57dup" "r.(?)" "p.(Ala20Argfs*45)" "1" "0000499571" "00009605" "95" "57" "0" "57" "0" "c.57dup" "r.(?)" "p.(Ala20Argfs*45)" "1" "0000499572" "00009605" "95" "449" "-1" "610" "1" "c.449-?_610+?del" "r.(?)" "p.(Asp150_Thr203del)" "3" "0000499573" "00009605" "95" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153*)" "3" "0000499574" "00009605" "95" "1099" "-4166" "1320" "840" "c.1099-4166_1320+840delins23" "r.(?)" "p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu)" "8-9" "0000499575" "00009605" "95" "1099" "-4166" "1320" "840" "c.1099-4166_1320+840delins23" "r.(?)" "p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu)" "8-9" "0000499576" "00009605" "95" "1099" "-4166" "1320" "840" "c.1099-4166_1320+840delins23" "r.(?)" "p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu)" "8-9" "0000499577" "00009605" "95" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472*)" "10" "0000499578" "00009605" "95" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499579" "00009605" "95" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499580" "00009605" "95" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499581" "00009605" "95" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499582" "00009605" "95" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "11" "0000499583" "00009605" "95" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "11" "0000499584" "00009605" "95" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "11" "0000499585" "00009605" "95" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "11" "0000499586" "00009605" "95" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "11" "0000499587" "00009605" "95" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "11" "0000499588" "00009605" "35" "57" "0" "57" "0" "c.57dup" "r.(?)" "p.(Ala20Argfs*45)" "1" "0000499589" "00009605" "35" "449" "-1" "610" "1" "c.449-?_610+?del" "r.(?)" "p.(Asp150_Thr203del)" "3" "0000499590" "00009605" "35" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153*)" "3" "0000499591" "00009605" "35" "1099" "-4166" "1320" "840" "c.1099-4166_1320+840delins23" "r.(?)" "p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu)" "8-9" "0000499592" "00009605" "35" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472*)" "10" "0000499593" "00009605" "95" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499594" "00009605" "95" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499595" "00009605" "35" "1465" "0" "1466" "0" "c.1465_1466del" "r.(?)" "p.(Asn489Profs*126)" "10" "0000499596" "00009605" "95" "241" "0" "242" "0" "c.241_242del" "r.(?)" "p.(Leu81Alafs*9)" "1" "0000499597" "00009605" "95" "241" "0" "242" "0" "c.241_242del" "r.(?)" "p.(Leu81Alafs*9)" "1" "0000690621" "00009605" "30" "1321" "-18" "1321" "-18" "c.1321-18C>T" "r.(=)" "p.(=)" "" "0000804242" "00009605" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(Tyr492=)" "" "0000804243" "00009605" "30" "784" "20" "784" "20" "c.784+20C>T" "r.(=)" "p.(=)" "" "0000804244" "00009605" "30" "290" "7" "290" "7" "c.290+7C>T" "r.(=)" "p.(=)" "" "0000888956" "00009605" "10" "1618" "0" "1618" "0" "c.1618G>C" "r.(?)" "p.(Val540Leu)" "" "0000888957" "00009605" "30" "1194" "0" "1194" "0" "c.1194T>C" "r.(?)" "p.(Ala398=)" "" "0000888958" "00009605" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Ala315Thr)" "" "0000929634" "00009605" "30" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Ile)" "" "0000965553" "00009605" "30" "1321" "-11" "1321" "-11" "c.1321-11A>G" "r.(=)" "p.(=)" "" "0000965554" "00009605" "30" "1321" "-76" "1321" "-67" "c.1321-76_1321-67del" "r.(=)" "p.(=)" "" "0000978850" "00009605" "30" "611" "-6" "611" "-6" "c.611-6T>C" "r.(=)" "p.(=)" "" "0001037667" "00009605" "50" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Glu258Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000246784" "0000499570" "0000246785" "0000499571" "0000246786" "0000499588" "0000246787" "0000499593" "0000246787" "0000499596" "0000246788" "0000499594" "0000246788" "0000499597" "0000246789" "0000499572" "0000246790" "0000499589" "0000246791" "0000499573" "0000246792" "0000499590" "0000246793" "0000499574" "0000246794" "0000499575" "0000246795" "0000499576" "0000246796" "0000499591" "0000246797" "0000499577" "0000246798" "0000499592" "0000246799" "0000499578" "0000246800" "0000499579" "0000246801" "0000499580" "0000246802" "0000499581" "0000246803" "0000499595" "0000246804" "0000499582" "0000246805" "0000499583" "0000246806" "0000499584" "0000246807" "0000499585" "0000246808" "0000499586" "0000246809" "0000499587"