### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DPYSL5) # 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}}" "DPYSL5" "dihydropyrimidinase-like 5" "2" "p23.3" "unknown" "NC_000002.11" "UD_132378868608" "" "https://www.LOVD.nl/DPYSL5" "" "1" "20637" "56896" "608383" "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/DPYSL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-09 22:19:16" "00006" "2025-08-08 10:32:35" ## 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}}" "00006685" "DPYSL5" "dihydropyrimidinase-like 5" "001" "NM_020134.3" "" "NP_064519.2" "" "" "" "-158" "5051" "1695" "27070969" "27173219" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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 = 1 "{{geneid}}" "{{diseaseid}}" "DPYSL5" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00372568" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00372569" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00372570" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00372571" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00372572" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00372573" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00372574" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00372575" "" "" "" "1" "" "00006" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00372576" "" "" "" "2" "" "00006" "{PMID:Ritscher 1987:2590300}, {PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "2-generation family, 2 affected, unaffected non-carrier parents" "F" "" "Switzerland" "" "0" "" "" "" "Pat9" "00466181" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00372568" "05611" "00372569" "05611" "00372570" "05611" "00372571" "05611" "00372572" "05611" "00372573" "05611" "00372574" "05611" "00372575" "05611" "00372576" "05611" "00466181" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000267881" "05611" "00372568" "00006" "Isolated (sporadic)" "33y" "birth 38w, length 50 cm/67th, weight 3,360 g/68th; OFC −2.5 SD; weak fetal movements; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 3y6m-sitting; 7y-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; stereotypic movements; strabismus; no seizures; corpus callosum agenesis; hippocampal dysplasia; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; feet malposition, limited extension of the knees; no heart defect; micropenis; brachycephaly, deep-set eyes, short philtrum, full lips, macrostomia, ulnar deviation of the hands, narrow hands" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267882" "05611" "00372569" "00006" "Isolated (sporadic)" "2y6m" "birth 42w, weight 3,040 g/7th; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 1y6m-sitting; 1y6m-walking; no toilet trained; no swallowing difficulties; no autism spectrum disorder; no behavioral problems; no abnormal movements; no ataxia; no strabismus; no seizures; corpus callosum agenesis; hippocampal dysplasia; no cerebellar hypoplasia; no hydrocephaly; no short stature; no scoliosis; no heart defect; no abnormal genitalia; no dysmorphic features" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267883" "05611" "00372570" "00006" "Isolated (sporadic)" "8y6m" "birth 42w, weight 4,600 g/97th; OFC −0.3 SD; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; no sitting; no walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; choreatic movements; no ataxia; strabismus; generalized tonic-clonic seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; premature closure of anterior fontanel; no heart defect; micropenis, cryptorchidism; prominent eyes and upper lip, large ears" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267884" "05611" "00372571" "00006" "Isolated (sporadic)" "22y" "birth 40w, weight 3,800 g/75th–90th; OFC 10th centile; delayed development; hypotonia; severe intellectual disability; no degree; no absent speech; no sitting; no walking; no toilet trained; no swallowing difficulties; no autism spectrum disorder; sensory processing disorder; no abnormal movements; ataxia; no strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; hip dysplasia requiring surgery; no heart defect; deep set eyes, hypotelorism, high and narrow palate" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267885" "05611" "00372572" "00006" "Isolated (sporadic)" "22y" "birth 39w, weight 3,685 g/75th; OFC −2.2 SD; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 20m-sitting; no walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; athetoid and stereotypic movements; ataxia; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; scoliosis; hip dislocation; no heart defect; no abnormal genitalia; plagiocephaly, hypotelorism, deep set eyes, high and narrow palate, tapering fingers" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267886" "05611" "00372573" "00006" "Isolated (sporadic)" "4y6m" "birth 39w, weight 3,969 g/95th, OFC 39.5cm/>97th; OFC −0.7 SD; dilated ventricles at 36 weeks; delayed development; hypotonia; intellectual disability; no absent speech; 21m-sitting; 3y-walking; no toilet trained; swallowing difficulties; autism spectrum disorder; aggressiveness; arm extension movements; wide gait; no strabismus; abnormal movements treated with levetiracetam, EEG normal; corpus callosum agenesis; abnormal myelination; no short stature; no scoliosis; hypermobile joints; no heart defect; no abnormal genitalia; curly hair, hypertelorism, downslanting palpebral fissures, broad nasal root" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267887" "05611" "00372574" "00006" "Isolated (sporadic)" "17y6m" "birth 39w, length 49 cm/42nd, weight 2,600 g/6th; OFC −3.7 SD; weak fetal movements; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 12m-sitting; 5y6m-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; no abnormal movements; no ataxia; strabismus; focal seizures; corpus callosum agenesis; no hippocampal dysplasia; no cerebellar hypoplasia; no hydrocephaly; Dandy-Walker malformation, encephalocele with intracranial hypertension; short stature; scoliosis; declination of the body to the left side; no heart defect; no abnormal genitalia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267888" "05611" "00372575" "00006" "Isolated (sporadic)" "5y" "birth 40w, length 53.3 cm/90th, weight 3,200 g/33rd; OFC 26th centile; None; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 18m-sitting; 5y-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; impulse control; involuntary movements; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; no scoliosis; no heart defect; no abnormal genitalia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000267889" "05611" "00372576" "00006" "Unknown" "3y6m" "see paper; ..., birth 37w, length 51 cm/90th, weight 3,100 g/75th, OFC 34.8 cm/90th; OFC +3.9 SD hydrocephaly; delayed development; hypotonia; no absent speech; no swallowing difficulties; no seizures; no corpus callosum agenesis; cerebellar hypoplasia; hydrocephaly; short stature; no scoliosis; 11 pairs of ribs, foramina parietalia, large fontanelles; atrio-ventricular canal; slightly gaping vulva; ocular hypertelorism, downslanting palpebral fissures, depressed nasal bridge, apparently low-set ears, narrow palate" "" "" "" "" "" "" "" "" "" "Ritscher-Schinzel syndrome" "" "0000351568" "00198" "00466181" "03820" "Unknown" "" "Heart defect, Microcephaly, Intellectual disability, Short stature" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000373801" "00372568" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373802" "00372569" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373803" "00372570" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373804" "00372571" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373805" "00372572" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373806" "00372573" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373807" "00372574" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373808" "00372575" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373809" "00372576" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000467839" "00466181" "1" "03820" "03820" "2025-08-06 15:26:51" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000373801" "DPYSL5" "0000373802" "DPYSL5" "0000373803" "DPYSL5" "0000373804" "DPYSL5" "0000373805" "DPYSL5" "0000373806" "DPYSL5" "0000373807" "DPYSL5" "0000373808" "DPYSL5" "0000373809" "DPYSL5" ## 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 = 25 "{{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}}" "0000275510" "0" "50" "2" "27121488" "27121488" "subst" "0" "01943" "DPYSL5_000001" "g.27121488G>A" "" "" "" "DPYSL5(NM_020134.4):c.121G>A (p.E41K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26898620G>A" "" "VUS" "" "0000718716" "0" "50" "2" "27121488" "27121488" "subst" "0" "02329" "DPYSL5_000001" "g.27121488G>A" "" "" "" "DPYSL5(NM_020134.4):c.121G>A (p.E41K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000784056" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784057" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784058" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784059" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784060" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784061" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784062" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784063" "0" "90" "2" "27121488" "27121488" "subst" "0" "00006" "DPYSL5_000001" "g.27121488G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "" "De novo" "" "" "0" "" "" "g.26898620G>A" "" "pathogenic (dominant)" "" "0000784064" "0" "90" "2" "27121506" "27121506" "subst" "0" "00006" "DPYSL5_000002" "g.27121506G>A" "" "{PMID:Jeanne 2021:33894126}, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004}" "" "" "gonadal mosaicism suspected" "De novo" "" "" "0" "" "" "g.26898638G>A" "" "pathogenic (dominant)" "" "0000911675" "0" "50" "2" "27164896" "27164896" "subst" "2.43649E-5" "02325" "DPYSL5_000003" "g.27164896C>T" "" "" "" "DPYSL5(NM_020134.4):c.1168C>T (p.R390C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923675" "0" "30" "2" "27150268" "27150268" "subst" "0.000174713" "02325" "DPYSL5_000004" "g.27150268G>A" "" "" "" "DPYSL5(NM_020134.4):c.568G>A (p.(Val190Ile), p.V190I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928583" "0" "30" "2" "27164922" "27164922" "subst" "0.000129967" "02325" "DPYSL5_000005" "g.27164922C>T" "" "" "" "DPYSL5(NM_020134.4):c.1194C>T (p.A398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975185" "0" "30" "2" "27121608" "27121608" "subst" "1.63639E-5" "01804" "DPYSL5_000006" "g.27121608G>A" "" "" "" "DPYSL5(NM_020134.4):c.241G>A (p.(Asp81Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975186" "0" "30" "2" "27150268" "27150268" "subst" "0.000174713" "01804" "DPYSL5_000004" "g.27150268G>A" "" "" "" "DPYSL5(NM_020134.4):c.568G>A (p.(Val190Ile), p.V190I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975187" "0" "30" "2" "27151181" "27151181" "subst" "4.87373E-5" "01804" "DPYSL5_000007" "g.27151181G>A" "" "" "" "DPYSL5(NM_020134.4):c.659G>A (p.(Arg220His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975188" "0" "30" "2" "27154794" "27154794" "subst" "0" "01804" "DPYSL5_000008" "g.27154794T>C" "" "" "" "DPYSL5(NM_020134.4):c.714+242T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975189" "0" "30" "2" "27157542" "27157542" "subst" "0.00244552" "01804" "DPYSL5_000009" "g.27157542C>T" "" "" "" "DPYSL5(NM_020134.4):c.887C>T (p.(Thr296Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992783" "0" "30" "2" "27150262" "27150262" "subst" "4.06326E-6" "01804" "DPYSL5_000010" "g.27150262G>A" "" "" "" "DPYSL5(NM_020134.3):c.562G>A (p.(Ala188Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033235" "0" "50" "2" "27162954" "27162954" "subst" "0" "01804" "DPYSL5_000011" "g.27162954G>A" "" "" "" "DPYSL5(NM_020134.4):c.1003G>A (p.(Ala335Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033236" "0" "30" "2" "27164854" "27164854" "subst" "3.24855E-5" "01804" "DPYSL5_000012" "g.27164854G>A" "" "" "" "DPYSL5(NM_020134.4):c.1126G>A (p.(Val376Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033237" "0" "30" "2" "27166006" "27166006" "subst" "0" "01804" "DPYSL5_000013" "g.27166006G>C" "" "" "" "DPYSL5(NM_020134.4):c.1440+388G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033238" "0" "30" "2" "27167639" "27167639" "subst" "4.06461E-5" "01804" "DPYSL5_000014" "g.27167639T>C" "" "" "" "DPYSL5(NM_020134.4):c.1556T>C (p.(Val519Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047180" "0" "50" "2" "27164923" "27164923" "subst" "1.21854E-5" "03820" "DPYSL5_000015" "g.27164923G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26942055G>A" "" "VUS" "ACMG" ## 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 DPYSL5 ## Count = 25 "{{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}}" "0000275510" "00006685" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000718716" "00006685" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784056" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784057" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784058" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784059" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784060" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784061" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784062" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784063" "00006685" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000784064" "00006685" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "" "0000911675" "00006685" "50" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" "0000923675" "00006685" "30" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Ile)" "" "0000928583" "00006685" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(=)" "" "0000975185" "00006685" "30" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Asp81Asn)" "" "0000975186" "00006685" "30" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Ile)" "" "0000975187" "00006685" "30" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220His)" "" "0000975188" "00006685" "30" "714" "242" "714" "242" "c.714+242T>C" "r.(=)" "p.(=)" "" "0000975189" "00006685" "30" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Thr296Met)" "" "0000992783" "00006685" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Ala188Thr)" "" "0001033235" "00006685" "50" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "" "0001033236" "00006685" "30" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Val376Ile)" "" "0001033237" "00006685" "30" "1440" "388" "1440" "388" "c.1440+388G>C" "r.(=)" "p.(=)" "" "0001033238" "00006685" "30" "1556" "0" "1556" "0" "c.1556T>C" "r.(?)" "p.(Val519Ala)" "" "0001047180" "00006685" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Asp399Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000373801" "0000784056" "0000373802" "0000784057" "0000373803" "0000784058" "0000373804" "0000784059" "0000373805" "0000784060" "0000373806" "0000784061" "0000373807" "0000784062" "0000373808" "0000784063" "0000373809" "0000784064" "0000467839" "0001047180"