### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DPY19L2) # 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}}" "DPY19L2" "dpy-19-like 2 (C. elegans)" "12" "q14.2" "unknown" "NG_031909.1" "UD_132319646930" "" "https://www.LOVD.nl/DPY19L2" "" "1" "19414" "283417" "613893" "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/DPY19L2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-05 09:56:45" "00000" "2024-04-19 20:27:30" ## 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}}" "00006671" "DPY19L2" "dpy-19-like 2 (C. elegans)" "001" "NM_173812.4" "" "NP_776173.3" "" "" "" "-181" "3876" "2277" "64062354" "63952693" "" "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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "03497" "SPGF9" "spermatogenic failure, type 9 (SPGF9)" "AR" "613958" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-05 09:55:19" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DPY19L2" "00201" "DPY19L2" "03497" "DPY19L2" "05562" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00317974" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Italy" "" "0" "" "" "" "CT190" "00317975" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Italy" "" "0" "" "" "" "A1869" "00317976" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Italy" "" "0" "" "" "" "CT158" "00317977" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Spain" "" "0" "" "" "" "11‐387" "00407875" "" "" "" "1" "" "00006" "{PMID:Oud 2020:31985809}" "" "M" "" "United States" "" "0" "" "" "" "PatGL-14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00317974" "00201" "00317975" "00201" "00317976" "00201" "00317977" "00201" "00407875" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 03497, 05562 ## Count = 5 "{{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}}" "0000241758" "00201" "00317974" "00006" "Familial, autosomal recessive" "" "see paper; ..., globozoospermic" "" "" "" "" "" "" "" "SPGF9" "" "0000241759" "00201" "00317975" "00006" "Familial, autosomal recessive" "" "see paper; ..., globozoospermic" "" "" "" "" "" "" "" "SPGF9" "" "0000241760" "00201" "00317976" "00006" "Familial, autosomal recessive" "" "see paper; ..., globozoospermic" "" "" "" "" "" "" "" "SPGF9" "" "0000241761" "00201" "00317977" "00006" "Unknown" "" "see paper; ..., globozoospermic" "" "" "" "" "" "" "" "" "" "0000300005" "00201" "00407875" "00006" "Unknown" "" "see paper; ..., globozoospermia" "" "" "" "" "" "" "" "" "globozoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000319156" "00317974" "1" "00006" "00006" "2020-11-05 10:40:30" "00006" "2020-11-05 10:45:07" "PCR" "DNA" "" "" "0000319157" "00317975" "1" "00006" "00006" "2020-11-05 10:43:40" "" "" "PCR" "DNA" "" "" "0000319158" "00317976" "1" "00006" "00006" "2020-11-05 10:48:18" "" "" "PCR" "DNA" "" "" "0000319159" "00317977" "1" "00006" "00006" "2020-11-05 10:56:11" "" "" "PCR;SEQ" "DNA" "" "" "0000409127" "00407875" "1" "00006" "00006" "2022-04-09 22:01:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000319156" "DPY19L2" "0000319157" "DPY19L2" "0000319158" "DPY19L2" "0000319159" "DPY19L2" ## 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 = 17 "{{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}}" "0000248907" "0" "10" "12" "64062023" "64062023" "subst" "0.286233" "02325" "DPY19L2_000002" "g.64062023A>C" "" "" "" "DPY19L2(NM_173812.5):c.151T>G (p.S51A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63668243A>C" "" "benign" "" "0000267513" "0" "10" "12" "64062065" "64062065" "subst" "0.286036" "02325" "DPY19L2_000004" "g.64062065T>C" "" "" "" "DPY19L2(NM_173812.5):c.109A>G (p.M37V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63668285T>C" "" "benign" "" "0000267514" "0" "10" "12" "64062052" "64062052" "subst" "0.285868" "02325" "DPY19L2_000003" "g.64062052G>A" "" "" "" "DPY19L2(NM_173812.5):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63668272G>A" "" "benign" "" "0000614352" "0" "10" "12" "63964652" "63964652" "del" "0" "02325" "DPY19L2_000006" "g.63964652del" "" "" "" "DPY19L2(NM_173812.5):c.1901-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63570872del" "" "benign" "" "0000701804" "3" "90" "12" "63935694" "64129963" "del" "0" "00006" "DPY19L2_000007" "g.(63934923_63935694)_(64129963_64130734)del" "" "{PMID:Chianese 2015:25755131}" "" "DPY19L2 del type a" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000701805" "3" "90" "12" "63935694" "64129963" "del" "0" "00006" "DPY19L2_000007" "g.(63934923_63935694)_(64129963_64130734)del" "" "{PMID:Chianese 2015:25755131}" "" "DPY19L2 del type a" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000701806" "1" "90" "12" "63935694" "64129963" "del" "0" "00006" "DPY19L2_000007" "g.(63934923_63935694)_(64129963_64130734)del" "" "{PMID:Chianese 2015:25755131}" "" "DPY19L2 del type a" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000701807" "2" "90" "12" "64020248" "64020307" "del" "0" "00006" "DPY19L2_000008" "g.(64017912_64020248)_(64020307_64038182)del" "" "{PMID:Chianese 2015:25755131}" "" "del ex7" "" "Germline" "" "" "0" "" "" "g.(63624132_63626468)_(63626527_63644402)del" "" "pathogenic (recessive)" "" "0000701808" "0" "50" "12" "64055218" "64055218" "subst" "4.25902E-5" "00006" "DPY19L2_000009" "g.64055218G>A" "" "{PMID:Chianese 2015:25755131}" "" "" "no 2nd variant found" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000701809" "1" "10" "12" "64062065" "64062065" "subst" "0.286036" "00006" "DPY19L2_000004" "g.64062065T>C" "" "{PMID:Chianese 2015:25755131}" "" "" "" "Germline" "" "rs10878075" "0" "" "" "g.63668285T>C" "" "benign" "" "0000701810" "1" "10" "12" "64062052" "64062052" "subst" "0.285868" "00006" "DPY19L2_000003" "g.64062052G>A" "" "{PMID:Chianese 2015:25755131}" "" "" "" "Germline" "" "rs10878074" "0" "" "" "g.63668272G>A" "" "benign" "" "0000701811" "1" "10" "12" "64062023" "64062023" "subst" "0.286233" "00006" "DPY19L2_000002" "g.64062023A>C" "" "{PMID:Chianese 2015:25755131}" "" "" "" "Germline" "" "rs10878073" "0" "" "" "g.63668243A>C" "" "benign" "" "0000724195" "0" "30" "12" "63964532" "63964532" "subst" "0" "01943" "DPY19L2_000010" "g.63964532G>T" "" "" "" "DPY19L2(NM_173812.4):c.2000+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846197" "1" "70" "12" "64038271" "64038271" "subst" "0" "00006" "DPY19L2_000011" "g.64038271C>G" "" "{PMID:Oud 2020:31985809}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000846198" "2" "90" "12" "63952693" "64062354" "del" "0" "00006" "DPY19L2_000007" "g.(?_63952693)_(64062354_?)del" "" "{PMID:Oud 2020:31985809}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000890746" "0" "90" "12" "64011119" "64011119" "del" "3.02342E-5" "02327" "DPY19L2_000012" "g.64011119del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967035" "0" "30" "12" "64020316" "64020320" "dup" "0" "02329" "DPY19L2_000013" "g.64020316_64020320dup" "" "" "" "DPY19L2(NM_173812.5):c.804-9_804-5dupTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DPY19L2 ## Count = 17 "{{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}}" "0000248907" "00006671" "10" "151" "0" "151" "0" "c.151T>G" "r.(?)" "p.(Ser51Ala)" "" "0000267513" "00006671" "10" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Met37Val)" "" "0000267514" "00006671" "10" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000614352" "00006671" "10" "1901" "-4" "1901" "-4" "c.1901-4del" "r.spl?" "p.?" "" "0000701804" "00006671" "90" "0" "0" "0" "0" "c.-181_*1599{0}" "r.0" "p.0" "" "0000701805" "00006671" "90" "0" "0" "0" "0" "c.-181_*1599{0}" "r.0" "p.0" "_1_22_" "0000701806" "00006671" "90" "0" "0" "0" "0" "c.-181_*1599{0}" "r.0" "p.0" "_1_22_" "0000701807" "00006671" "90" "804" "-1" "861" "1" "c.(803+1_804-1)_(861+1_862-1)del" "r.?" "p.?" "6i_7i" "0000701808" "00006671" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ser165Leu)" "" "0000701809" "00006671" "10" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Met37Val)" "" "0000701810" "00006671" "10" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000701811" "00006671" "10" "151" "0" "151" "0" "c.151T>G" "r.(?)" "p.(Ser51Ala)" "" "0000724195" "00006671" "30" "2000" "6" "2000" "6" "c.2000+6C>A" "r.(=)" "p.(=)" "" "0000846197" "00006671" "70" "715" "0" "715" "0" "c.715G>C" "r.(?)" "p.(Gly239Arg)" "" "0000846198" "00006671" "90" "0" "0" "0" "0" "c.-181_*1599{0}" "r.0" "p.0" "_1_22_" "0000890746" "00006671" "90" "1183" "0" "1183" "0" "c.1183del" "r.(?)" "p.(Ser395Leufs*9)" "" "0000967035" "00006671" "30" "804" "-9" "804" "-5" "c.804-9_804-5dup" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000319156" "0000701804" "0000319157" "0000701805" "0000319158" "0000701806" "0000319158" "0000701807" "0000319159" "0000701808" "0000319159" "0000701809" "0000319159" "0000701810" "0000319159" "0000701811" "0000409127" "0000846197" "0000409127" "0000846198"