### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SGPL1) # 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}}" "SGPL1" "sphingosine-1-phosphate lyase 1" "10" "q21" "unknown" "NC_000010.10" "UD_132319338192" "" "https://www.LOVD.nl/SGPL1" "" "1" "10817" "8879" "603729" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-13 21:41:09" "00000" "2025-07-08 13:22:38" ## 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}}" "00018813" "SGPL1" "sphingosine-1-phosphate lyase 1" "001" "NM_003901.3" "" "NP_003892.2" "" "" "" "-222" "5561" "1707" "72575704" "72640946" "" "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}}" "05215" "-" "nephrotic syndrome, congenital, male hypergonadotropic hypogonadism, adrenal calcification with/without adrenal insufficiency" "" "" "" "" "" "00006" "2017-01-13 21:44:48" "" "" "06084" "NPHS14" "nephrotic syndrome, type 14" "AR" "617575" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-05-03 18:34:52" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SGPL1" "05215" "SGPL1" "06084" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00095243" "" "" "" "1" "" "01331" "" "" "M" "yes" "" "" "0" "" "hemodialysis, total parenteral nutrition, cortisol supplementation" "European" "" "00095244" "" "" "" "1" "" "01331" "" "" "M" "yes" "" "00y03m" "0" "" "" "Arab" "" "00409132" "" "" "" "1" "" "01468" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00095243" "05215" "00095244" "05215" "00409132" "06084" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05215, 06084 ## Count = 2 "{{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}}" "0000073717" "05215" "00095243" "01331" "Familial, autosomal recessive" "" "congenital nephrotic syndrome associated with male hypergonadotropic hypogonadism and with adrenal calcification with and without adrenal insufficiency" "" "" "" "" "" "" "" "" "" "0000073718" "05215" "00095244" "01331" "Familial, autosomal recessive" "" "congenital nephrotic syndrome associated with male hypergonadotropic hypogonadism and with adrenal calcification with and without adrenal insufficiency" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095642" "00095243" "1" "01331" "01331" "2017-01-13 10:00:49" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000095643" "00095244" "1" "01331" "01331" "2017-01-13 10:15:26" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000410396" "00409132" "1" "01468" "01468" "2022-05-03 08:45:26" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 28 "{{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}}" "0000154229" "3" "70" "10" "72631614" "72631614" "del" "0" "01331" "SGPL1_000002" "g.72631614del" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000154230" "3" "70" "10" "72636365" "72636365" "subst" "0" "01331" "SGPL1_000001" "g.72636365C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.70876608C>T" "" "likely pathogenic" "" "0000296778" "0" "50" "10" "72644920" "72644920" "subst" "0.000308602" "02325" "PCBD1_000001" "g.72644920C>T" "" "" "" "PCBD1(NM_000281.2):c.205G>A (p.(Val69Met)), PCBD1(NM_000281.4):c.205G>A (p.V69M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70885163C>T" "" "VUS" "" "0000540603" "0" "10" "10" "72604263" "72604263" "subst" "0.0919356" "02330" "SGPL1_000003" "g.72604263G>T" "" "" "" "SGPL1(NM_003901.4):c.61G>T (p.V21L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70844506G>T" "" "benign" "" "0000540604" "0" "10" "10" "72614524" "72614524" "subst" "0.046747" "02330" "SGPL1_000004" "g.72614524A>G" "" "" "" "SGPL1(NM_003901.4):c.321A>G (p.K107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70854767A>G" "" "benign" "" "0000540605" "0" "10" "10" "72619205" "72619205" "subst" "0.996543" "02330" "SGPL1_000005" "g.72619205C>T" "" "" "" "SGPL1(NM_003901.4):c.564C>T (p.I188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70859448C>T" "" "benign" "" "0000540606" "0" "10" "10" "72629567" "72629567" "subst" "0.0555944" "02330" "SGPL1_000006" "g.72629567C>T" "" "" "" "SGPL1(NM_003901.4):c.723C>T (p.A241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70869810C>T" "" "benign" "" "0000540607" "0" "10" "10" "72631626" "72631626" "subst" "0.178328" "02330" "SGPL1_000007" "g.72631626C>T" "" "" "" "SGPL1(NM_003901.4):c.942C>T (p.V314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70871869C>T" "" "benign" "" "0000540608" "0" "10" "10" "72635149" "72635150" "del" "0" "02330" "SGPL1_000008" "g.72635149_72635150del" "" "" "" "SGPL1(NM_003901.4):c.1299-10_1299-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70875392_70875393del" "" "benign" "" "0000540609" "0" "30" "10" "72645662" "72645662" "subst" "1.6279E-5" "01804" "PCBD1_000002" "g.72645662C>T" "" "" "" "PCBD1(NM_000281.2):c.28G>A (p.(Ala10Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70885905C>T" "" "likely benign" "" "0000804506" "0" "30" "10" "72631591" "72631591" "subst" "6.13527E-5" "02325" "SGPL1_000009" "g.72631591A>G" "" "" "" "SGPL1(NM_003901.4):c.910-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804507" "0" "90" "10" "72643730" "72643730" "subst" "0.000142316" "02325" "PCBD1_000004" "g.72643730G>A" "" "" "" "PCBD1(NM_000281.4):c.292C>T (p.Q98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000847684" "11" "70" "10" "72633127" "72633127" "subst" "0" "01468" "SGPL1_000010" "g.72633127G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70873370G>A" "" "likely pathogenic (recessive)" "" "0000847685" "21" "70" "10" "72633274" "72633274" "subst" "4.0623E-6" "01468" "SGPL1_000011" "g.72633274T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70873517T>G" "" "likely pathogenic (recessive)" "" "0000852544" "0" "30" "10" "72631760" "72631760" "subst" "0.000344899" "02326" "SGPL1_000014" "g.72631760A>T" "" "" "" "SGPL1(NM_003901.4):c.1059+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852545" "0" "30" "10" "72633135" "72633135" "subst" "8.93488E-5" "02326" "SGPL1_000015" "g.72633135T>C" "" "" "" "SGPL1(NM_003901.4):c.1087T>C (p.L363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861962" "0" "50" "10" "72604246" "72604246" "subst" "0.000426767" "02327" "SGPL1_000012" "g.72604246A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861963" "0" "30" "10" "72628170" "72628170" "subst" "0.000195049" "02326" "SGPL1_000013" "g.72628170G>C" "" "" "" "SGPL1(NM_003901.4):c.684G>C (p.K228N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861964" "0" "50" "10" "72643753" "72643753" "subst" "4.06306E-6" "01804" "PCBD1_000005" "g.72643753A>G" "" "" "" "PCBD1(NM_000281.2):c.269T>C (p.(Ile90Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861965" "0" "90" "10" "72643759" "72643759" "subst" "0.000264167" "01804" "PCBD1_000006" "g.72643759C>T" "" "" "" "PCBD1(NM_000281.2):c.263G>A (p.(Arg88Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861966" "0" "50" "10" "72644920" "72644920" "subst" "0.000308602" "01804" "PCBD1_000001" "g.72644920C>T" "" "" "" "PCBD1(NM_000281.2):c.205G>A (p.(Val69Met)), PCBD1(NM_000281.4):c.205G>A (p.V69M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889210" "0" "30" "10" "72637078" "72637078" "subst" "0.00101135" "02326" "PCBD1_000008" "g.72637078C>T" "" "" "" "SGPL1(NM_003901.4):c.1693C>T (p.P565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913311" "0" "30" "10" "72636326" "72636326" "subst" "0.00043946" "02326" "SGPL1_000016" "g.72636326G>A" "" "" "" "SGPL1(NM_003901.4):c.1474G>A (p.A492T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929693" "0" "30" "10" "72643797" "72643797" "subst" "4.07412E-6" "01804" "PCBD1_000010" "g.72643797G>T" "" "" "" "PCBD1(NM_000281.2):c.225C>A (p.(Ile75=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965808" "0" "30" "10" "72644892" "72644892" "subst" "9.33965E-5" "01804" "PCBD1_000011" "g.72644892C>T" "" "" "" "PCBD1(NM_000281.2):c.216+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998483" "0" "30" "10" "72614474" "72614474" "subst" "0" "01804" "SGPL1_000017" "g.72614474A>G" "" "" "" "SGPL1(NM_003901.3):c.271A>G (p.(Lys91Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037971" "0" "30" "10" "72604355" "72604355" "subst" "0.000170587" "02326" "SGPL1_000018" "g.72604355G>A" "" "" "" "SGPL1(NM_003901.4):c.153G>A (p.L51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046246" "0" "90" "10" "72643763" "72643763" "subst" "6.50243E-5" "01804" "PCBD1_000012" "g.72643763C>A" "" "" "" "PCBD1(NM_000281.2):c.259G>T (p.(Glu87Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SGPL1 ## Count = 28 "{{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}}" "0000154229" "00018813" "70" "934" "0" "934" "0" "c.934del" "r.0?" "p.(Leu312Phefs*30)" "11" "0000154230" "00018813" "70" "1513" "0" "1513" "0" "c.1513C>T" "r.0?" "p.(Arg505*)" "14" "0000296778" "00018813" "50" "9535" "0" "9535" "0" "c.*7828C>T" "r.(=)" "p.(=)" "" "0000540603" "00018813" "10" "61" "0" "61" "0" "c.61G>T" "r.(?)" "p.(Val21Leu)" "" "0000540604" "00018813" "10" "321" "0" "321" "0" "c.321A>G" "r.(?)" "p.(Lys107=)" "" "0000540605" "00018813" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Ile188=)" "" "0000540606" "00018813" "10" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Ala241=)" "" "0000540607" "00018813" "10" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Val314=)" "" "0000540608" "00018813" "10" "1299" "-10" "1299" "-9" "c.1299-10_1299-9del" "r.(=)" "p.(=)" "" "0000540609" "00018813" "30" "10277" "0" "10277" "0" "c.*8570C>T" "r.(=)" "p.(=)" "" "0000804506" "00018813" "30" "910" "-3" "910" "-3" "c.910-3A>G" "r.spl?" "p.?" "" "0000804507" "00018813" "90" "8345" "0" "8345" "0" "c.*6638G>A" "r.(=)" "p.(=)" "" "0000847684" "00018813" "70" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Gly360Asp)" "11" "0000847685" "00018813" "70" "1226" "0" "1226" "0" "c.1226T>G" "r.(?)" "p.(Met409Arg)" "11" "0000852544" "00018813" "30" "1059" "17" "1059" "17" "c.1059+17A>T" "r.(=)" "p.(=)" "" "0000852545" "00018813" "30" "1087" "0" "1087" "0" "c.1087T>C" "r.(?)" "p.(Leu363=)" "" "0000861962" "00018813" "50" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Tyr15Cys)" "" "0000861963" "00018813" "30" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Lys228Asn)" "" "0000861964" "00018813" "50" "8368" "0" "8368" "0" "c.*6661A>G" "r.(=)" "p.(=)" "" "0000861965" "00018813" "90" "8374" "0" "8374" "0" "c.*6667C>T" "r.(=)" "p.(=)" "" "0000861966" "00018813" "50" "9535" "0" "9535" "0" "c.*7828C>T" "r.(=)" "p.(=)" "" "0000889210" "00018813" "30" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Pro565Ser)" "" "0000913311" "00018813" "30" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Ala492Thr)" "" "0000929693" "00018813" "30" "8412" "0" "8412" "0" "c.*6705G>T" "r.(=)" "p.(=)" "" "0000965808" "00018813" "30" "9507" "0" "9507" "0" "c.*7800C>T" "r.(=)" "p.(=)" "" "0000998483" "00018813" "30" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Lys91Glu)" "" "0001037971" "00018813" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(=)" "" "0001046246" "00018813" "90" "8378" "0" "8378" "0" "c.*6671C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000095642" "0000154229" "0000095643" "0000154230" "0000410396" "0000847684" "0000410396" "0000847685"