### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PROK2) # 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}}" "PROK2" "prokineticin 2" "3" "p21.1" "unknown" "NG_008275.1" "UD_132118553952" "" "https://www.LOVD.nl/PROK2" "" "1" "18455" "60675" "607002" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PROK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-16 19:53:57" "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}}" "00016881" "PROK2" "transcript variant 1" "002" "NM_001126128.1" "" "NP_001119600.1" "" "" "" "-154" "1459" "390" "71834357" "71820806" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02965" "HH4" "hypogonadotropic hypogonadism, type 4 with/without anosmia (HH-4)" "AD" "610628" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" "" "05284" "ANI" "anosmia, isolated (ANI)" "" "" "" "" "" "00006" "2017-06-16 19:42:14" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PROK2" "02965" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00081733" "" "" "" "1" "" "00006" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "targeted sequencing in 386 Kallmann syndrome patients, 1 affected" "F" "" "France" "" "0" "" "" "" "" "00104950" "" "" "" "1" "" "02034" "" "" "M" "?" "Israel" "" "0" "" "" "Jewish" "" "00231437" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat47" "00231496" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat165" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00081733" "05198" "00104950" "05284" "00231437" "05597" "00231496" "05597" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02965, 05198, 05284, 05597 ## Count = 4 "{{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}}" "0000061376" "05198" "00081733" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000082948" "05284" "00104950" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000173828" "05597" "00231437" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173887" "05597" "00231496" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081862" "00081733" "1" "00006" "00006" "2016-10-21 15:10:40" "00006" "2016-10-21 15:52:24" "SEQ" "DNA" "" "" "0000105425" "00104950" "1" "02034" "02034" "2017-06-13 05:54:23" "" "" "SEQ-NG-IT" "DNA" "" "" "0000232536" "00231437" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232595" "00231496" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000081862" "PROK2" "0000081862" "SEMA3A" "0000232536" "PROK2" "0000232595" "PROK2" ## 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 = 20 "{{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}}" "0000132557" "0" "90" "3" "71830631" "71830632" "del" "0" "00006" "PROK2_000000" "g.(71830631_71830632del)" "" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "" "H70fsX5" "Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of \')\', or a digit). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.71781480_71781481del" "" "pathogenic" "" "0000170845" "0" "50" "3" "71821956" "71821956" "subst" "4.06283E-6" "02034" "PROK2_000001" "g.71821956C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.71772805C>T" "" "VUS" "" "0000297376" "0" "30" "3" "71820971" "71820971" "subst" "0" "02325" "PROK2_000002" "g.71820971C>T" "" "" "" "PROK2(NM_021935.4):c.*904G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71771820C>T" "" "likely benign" "" "0000338658" "0" "10" "3" "71823582" "71823582" "subst" "0.173848" "02327" "PROK2_000005" "g.71823582C>T" "" "" "" "PROK2(NM_001126128.2):c.285+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71774431C>T" "" "benign" "" "0000341797" "0" "50" "3" "71821901" "71821901" "subst" "4.06128E-6" "02327" "PROK2_000003" "g.71821901G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71772750G>A" "" "VUS" "" "0000346763" "0" "90" "3" "71830677" "71830677" "del" "0.000117762" "02327" "PROK2_000006" "g.71830677del" "" "" "" "PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71781526del" "" "pathogenic" "" "0000475046" "1" "50" "3" "71834136" "71834136" "subst" "0" "00006" "PROK2_000007" "g.71834136C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.71784985C>T" "" "VUS" "" "0000475047" "1" "50" "3" "71834136" "71834136" "subst" "0" "00006" "PROK2_000007" "g.71834136C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.71784985C>T" "" "VUS" "" "0000520659" "0" "10" "3" "71823582" "71823582" "subst" "0.173848" "02330" "PROK2_000005" "g.71823582C>T" "" "" "" "PROK2(NM_001126128.2):c.285+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71774431C>T" "" "benign" "" "0000520660" "0" "90" "3" "71830677" "71830677" "del" "0.000117762" "02330" "PROK2_000006" "g.71830677del" "" "" "" "PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71781526del" "" "pathogenic" "" "0000520661" "0" "10" "3" "71834120" "71834120" "subst" "0.0017716" "02330" "PROK2_000008" "g.71834120G>C" "" "" "" "PROK2(NM_001126128.2):c.84C>G (p.A28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71784969G>C" "" "benign" "" "0000608874" "0" "30" "3" "71834120" "71834120" "subst" "0.0017716" "02325" "PROK2_000008" "g.71834120G>C" "" "" "" "PROK2(NM_001126128.2):c.84C>G (p.A28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71784969G>C" "" "likely benign" "" "0000677088" "0" "50" "3" "71830623" "71830623" "subst" "7.71724E-5" "02325" "PROK2_000009" "g.71830623G>A" "" "" "" "PROK2(NM_001126128.1):c.217C>T (p.(Arg73Cys)), PROK2(NM_001126128.2):c.217C>T (p.R73C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719615" "0" "90" "3" "71830677" "71830677" "del" "0.000117762" "02329" "PROK2_000006" "g.71830677del" "" "" "" "PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962890" "0" "10" "3" "71830666" "71830666" "subst" "4.06091E-6" "02330" "PROK2_000010" "g.71830666G>A" "" "" "" "PROK2(NM_001126128.2):c.174C>T (p.C58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975989" "0" "50" "3" "71821973" "71821973" "dup" "0" "01804" "PROK2_000004" "g.71821973dup" "" "" "" "PROK2(NM_001126128.2):c.297dup (p.(Gly100TrpfsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993907" "0" "90" "3" "71830623" "71830623" "subst" "7.71724E-5" "01804" "PROK2_000009" "g.71830623G>A" "" "" "" "PROK2(NM_001126128.1):c.217C>T (p.(Arg73Cys)), PROK2(NM_001126128.2):c.217C>T (p.R73C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993908" "0" "70" "3" "71830677" "71830677" "del" "0.000117762" "01804" "PROK2_000006" "g.71830677del" "" "" "" "PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034177" "0" "50" "3" "71821964" "71821964" "subst" "0.000121919" "01804" "PROK2_000011" "g.71821964G>A" "" "" "" "PROK2(NM_001126128.2):c.301C>T (p.(Arg101Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051406" "0" "50" "3" "71834158" "71834158" "subst" "0" "01804" "PROK2_000012" "g.71834158G>A" "" "" "" "PROK2(NM_001126128.2):c.46C>T (p.(Pro16Ser))" "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 PROK2 ## Count = 20 "{{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}}" "0000132557" "00016881" "90" "208" "0" "209" "0" "c.(208_209del)" "r.(?)" "p.(Pro70Thrfs*4)" "2" "0000170845" "00016881" "50" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Met103Ile)" "4" "0000297376" "00016881" "30" "1294" "0" "1294" "0" "c.*904G>A" "r.(=)" "p.(=)" "" "0000338658" "00016881" "10" "285" "14" "285" "14" "c.285+14G>A" "r.(=)" "p.(=)" "" "0000341797" "00016881" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Ter)" "" "0000346763" "00016881" "90" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ile55Ter)" "" "0000475046" "00016881" "50" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23His)" "" "0000475047" "00016881" "50" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23His)" "" "0000520659" "00016881" "10" "285" "14" "285" "14" "c.285+14G>A" "r.(=)" "p.(=)" "" "0000520660" "00016881" "90" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ile55Ter)" "" "0000520661" "00016881" "10" "84" "0" "84" "0" "c.84C>G" "r.(?)" "p.(Ala28=)" "" "0000608874" "00016881" "30" "84" "0" "84" "0" "c.84C>G" "r.(?)" "p.(Ala28=)" "" "0000677088" "00016881" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Cys)" "" "0000719615" "00016881" "90" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ile55Ter)" "" "0000962890" "00016881" "10" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(=)" "" "0000975989" "00016881" "50" "297" "0" "297" "0" "c.297dup" "r.(?)" "p.(Gly100TrpfsTer22)" "" "0000993907" "00016881" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Cys)" "" "0000993908" "00016881" "70" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ile55Ter)" "" "0001034177" "00016881" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Trp)" "" "0001051406" "00016881" "50" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Pro16Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000081862" "0000132557" "0000105425" "0000170845" "0000232536" "0000475046" "0000232595" "0000475047"