### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAK2) # 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}}" "JAK2" "Janus kinase 2" "9" "p24" "unknown" "NG_009904.1" "UD_132084540283" "" "https://www.LOVD.nl/JAK2" "" "1" "6192" "3717" "147796" "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/JAK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-24 12:26:34" "00006" "2021-12-30 13:47:25" ## 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}}" "00010251" "JAK2" "Janus kinase 2" "001" "NM_004972.3" "" "NP_004963.1" "" "" "" "-494" "4791" "3399" "4985245" "5128183" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00220" "THCYT3" "thrombocythemia, type 3 (THCYT-3)" "AD;SMu" "614521" "" "" "" "00008" "2013-10-02 14:49:08" "00006" "2021-12-10 21:51:32" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01322" "ECYT1" "erythrocytosis, familial, type 1 (ECYT-1)" "" "133100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma (RB-1)" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01949" "myelofibrosis" "myelofibrosis" "" "254450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-04-04 09:07:25" "02023" "PV" "polycythemia vera" "" "263300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02320" "BDCHS" "Budd-Chiari syndrome (BDCHS)" "AR" "600880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "JAK2" "00220" "JAK2" "00908" "JAK2" "01322" "JAK2" "01949" "JAK2" "02023" "JAK2" "02320" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00003029" "" "" "" "6" "" "00004" "" "3-generation family, 6 affected" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050559" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00079910" "" "" "" "1" "" "01742" "{PMID:Suessmuth 2009:19735488}" "" "" "" "" "" "0" "" "" "" "" "00170837" "" "" "" "1" "" "00006" "{PMID:18503828 2008:18503828}" "" "F" "" "Italy" "" "0" "" "" "" "18503828-Pat" "00294871" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295330" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00003029" "00220" "00050559" "00198" "00079910" "02023" "00170837" "00908" "00294871" "00198" "00295330" "00198" "00307142" "01544" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00220, 00908, 01322, 01544, 01949, 02023, 02320 ## Count = 5 "{{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}}" "0000001880" "00220" "00003029" "00004" "Familial, autosomal dominant" "" "bone marrow megakaryocyte hyperplasia" "53y" "" "cerebrovascular event, long-standing thrombocytosis" "" "" "" "" "" "" "" "" "0000037171" "00198" "00050559" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000061402" "02023" "00079910" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000135697" "00908" "00170837" "00006" "-" "" "see paper; ..." "" "67y" "" "" "" "" "" "" "AML" "acute myeloid leukemia" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002935" "00003029" "1" "00008" "00008" "2013-10-02 14:56:57" "00008" "2019-03-12 12:20:08" "arraySNP;SEQ" "DNA" "" "" "0000050504" "00050559" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000079993" "00079910" "1" "01742" "01742" "2016-08-26 16:17:06" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000171718" "00170837" "1" "00006" "00006" "2018-07-24 12:42:14" "" "" "FISH;RT-PCR" "DNA;RNA" "" "" "0000296039" "00294871" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296498" "00295330" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000002935" "JAK2" "0000079993" "SOCS3" "0000171718" "BCR" "0000171718" "JAK2" ## 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 = 53 "{{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}}" "0000021325" "1" "95" "9" "5073770" "5073770" "subst" "0" "00004" "JAK2_000001" "g.5073770G>A" "" "{PMID:Mead 2012:22397670}" "" "G>A (V617I)" "" "Germline" "" "" "0" "" "" "g.5073770G>A" "" "pathogenic" "" "0000079484" "0" "90" "9" "204104" "8198999" "del" "0" "00006" "GLDC_000111" "g.204104_8198999del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.204104_8198999del" "" "pathogenic" "" "0000281625" "0" "10" "9" "5081780" "5081780" "subst" "0.526508" "02325" "JAK2_000003" "g.5081780G>A" "" "" "" "JAK2(NM_004972.3):c.2490G>A (p.L830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5081780G>A" "" "benign" "" "0000289914" "0" "50" "9" "5072561" "5072561" "subst" "0.000464654" "01943" "JAK2_000002" "g.5072561G>A" "" "" "" "JAK2(NM_001322194.1):c.1711G>A (p.G571S), JAK2(NM_004972.3):c.1711G>A (p.G571S, p.(Gly571Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5072561G>A" "" "VUS" "" "0000289915" "0" "50" "9" "5126342" "5126342" "subst" "0.0000295326" "01943" "JAK2_000005" "g.5126342C>T" "" "" "" "JAK2(NM_004972.3):c.3187C>T (p.R1063C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5126342C>T" "" "VUS" "" "0000332556" "0" "50" "9" "5072561" "5072561" "subst" "0.000464654" "01804" "JAK2_000002" "g.5072561G>A" "" "" "" "JAK2(NM_001322194.1):c.1711G>A (p.G571S), JAK2(NM_004972.3):c.1711G>A (p.G571S, p.(Gly571Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5072561G>A" "" "VUS" "" "0000332557" "0" "50" "9" "5090452" "5090452" "subst" "0.0000405632" "01804" "JAK2_000004" "g.5090452G>A" "" "" "" "JAK2(NM_004972.3):c.2768G>A (p.(Arg923His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5090452G>A" "" "VUS" "" "0000344477" "0" "50" "9" "5090566" "5090566" "subst" "0" "02327" "JAK2_000006" "g.5090566G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5090566G>C" "" "VUS" "" "0000392015" "0" "90" "9" "0" "0" "" "0" "00006" "PTCH1_000000" "g.?" "" "{PMID:Cirmena 2008:18503828}" "" "" "BCR/JAK2 fusion transcript from reciprocal translocation implying a double break on chromosome 9; no transcript starting with JAK2 described" "Somatic" "" "" "0" "" "t(9;22)(p24;q11)" "" "" "pathogenic" "" "0000538297" "0" "30" "9" "5022119" "5022119" "subst" "0.0000203072" "02326" "JAK2_000007" "g.5022119C>T" "" "" "" "JAK2(NM_004972.3):c.132C>T (p.Y44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022119C>T" "" "likely benign" "" "0000538298" "0" "30" "9" "5022130" "5022130" "subst" "0.000312734" "02326" "JAK2_000008" "g.5022130G>A" "" "" "" "JAK2(NM_001322194.1):c.143G>A (p.G48E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022130G>A" "" "likely benign" "" "0000538299" "0" "30" "9" "5029893" "5029893" "subst" "0.000632738" "01943" "JAK2_000009" "g.5029893C>G" "" "" "" "JAK2(NM_001322194.1):c.337C>G (p.L113V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5029893C>G" "" "likely benign" "" "0000538300" "0" "10" "9" "5050706" "5050706" "subst" "0.322297" "02325" "JAK2_000010" "g.5050706C>T" "" "" "" "JAK2(NM_004972.3):c.489C>T (p.H163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5050706C>T" "" "benign" "" "0000538301" "0" "30" "9" "5065000" "5065000" "subst" "0.000621535" "01943" "JAK2_000011" "g.5065000G>A" "" "" "" "JAK2(NM_001322194.1):c.1174G>A (p.V392M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5065000G>A" "" "likely benign" "" "0000538302" "0" "50" "9" "5066683" "5066683" "subst" "0" "01943" "JAK2_000012" "g.5066683A>T" "" "" "" "JAK2(NM_001322194.1):c.1220A>T (p.D407V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5066683A>T" "" "VUS" "" "0000538303" "0" "30" "9" "5069051" "5069051" "subst" "0" "01943" "JAK2_000013" "g.5069051T>C" "" "" "" "JAK2(NM_001322194.1):c.1356T>C (p.C452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5069051T>C" "" "likely benign" "" "0000538304" "0" "50" "9" "5069145" "5069145" "subst" "0" "01943" "JAK2_000014" "g.5069145G>C" "" "" "" "JAK2(NM_001322194.1):c.1450G>C (p.E484Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5069145G>C" "" "VUS" "" "0000538305" "0" "10" "9" "5069153" "5069153" "subst" "0.000708994" "01943" "JAK2_000015" "g.5069153T>G" "" "" "" "JAK2(NM_001322194.1):c.1458T>G (p.V486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5069153T>G" "" "benign" "" "0000538306" "0" "30" "9" "5073692" "5073692" "subst" "0" "01804" "JAK2_000016" "g.5073692C>T" "" "" "" "JAK2(NM_004972.3):c.1777-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5073692C>T" "" "likely benign" "" "0000538307" "0" "30" "9" "5073693" "5073693" "subst" "0" "01804" "JAK2_000017" "g.5073693C>T" "" "" "" "JAK2(NM_004972.3):c.1777-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5073693C>T" "" "likely benign" "" "0000538308" "0" "30" "9" "5073696" "5073696" "subst" "0" "01804" "JAK2_000018" "g.5073696A>T" "" "" "" "JAK2(NM_004972.3):c.1777-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5073696A>T" "" "likely benign" "" "0000538310" "0" "90" "9" "5073770" "5073770" "subst" "0.000358996" "02327" "JAK2_000020" "g.5073770G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5073770G>T" "" "pathogenic" "" "0000538311" "0" "50" "9" "5080280" "5080280" "subst" "0" "01943" "JAK2_000021" "g.5080280A>C" "" "" "" "JAK2(NM_001322194.1):c.2183A>C (p.K728T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5080280A>C" "" "VUS" "" "0000538312" "0" "30" "9" "5081750" "5081750" "subst" "0.0000690653" "01943" "JAK2_000022" "g.5081750C>T" "" "" "" "JAK2(NM_001322194.1):c.2460C>T (p.D820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5081750C>T" "" "likely benign" "" "0000538313" "0" "30" "9" "5081778" "5081778" "subst" "0.00028428" "02326" "JAK2_000023" "g.5081778C>T" "" "" "" "JAK2(NM_001322194.1):c.2488C>T (p.L830=), JAK2(NM_004972.3):c.2488C>T (p.L830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5081778C>T" "" "likely benign" "" "0000538314" "0" "50" "9" "5090451" "5090451" "subst" "0.000040823" "02325" "JAK2_000024" "g.5090451C>T" "" "" "" "JAK2(NM_004972.3):c.2767C>T (p.R923C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5090451C>T" "" "VUS" "" "0000538315" "0" "30" "9" "5090534" "5090534" "subst" "0.000260434" "01943" "JAK2_000025" "g.5090534C>T" "" "" "" "JAK2(NM_001322194.1):c.2850C>T (p.H950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5090534C>T" "" "likely benign" "" "0000538316" "0" "30" "9" "5122995" "5122995" "subst" "0.0000296839" "02326" "JAK2_000026" "g.5122995T>C" "" "" "" "JAK2(NM_001322194.1):c.3060-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5122995T>C" "" "likely benign" "" "0000538317" "0" "30" "9" "5123074" "5123074" "subst" "0" "01943" "JAK2_000027" "g.5123074C>T" "" "" "" "JAK2(NM_001322194.1):c.3130C>T (p.L1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5123074C>T" "" "likely benign" "" "0000538318" "0" "30" "9" "5126715" "5126715" "subst" "0.00201294" "02326" "JAK2_000028" "g.5126715A>G" "" "" "" "JAK2(NM_001322194.1):c.3323A>G (p.N1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5126715A>G" "" "likely benign" "" "0000538319" "0" "50" "9" "5126747" "5126747" "subst" "0" "01943" "JAK2_000029" "g.5126747C>G" "" "" "" "JAK2(NM_001322194.1):c.3355C>G (p.L1119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5126747C>G" "" "VUS" "" "0000578991" "0" "90" "9" "5070035" "5070040" "del" "0" "01742" "JAK2_000030" "g.5070035_5070040del" "" "{PMID:Suessmuth 2009:19735488}" "" "" "" "Somatic" "" "" "0" "" "" "g.5070035_5070040del" "" "likely pathogenic" "" "0000612146" "0" "30" "9" "5069216" "5069216" "subst" "0" "01804" "JAK2_000031" "g.5069216A>G" "" "" "" "JAK2(NM_004972.3):c.1513+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5069216A>G" "" "likely benign" "" "0000612147" "0" "30" "9" "5072560" "5072560" "subst" "0.000464881" "01943" "JAK2_000033" "g.5072560C>T" "" "" "" "JAK2(NM_001322194.1):c.1710C>T (p.Y570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5072560C>T" "" "likely benign" "" "0000612148" "0" "30" "9" "5081778" "5081778" "subst" "0.00028428" "01943" "JAK2_000023" "g.5081778C>T" "" "" "" "JAK2(NM_001322194.1):c.2488C>T (p.L830=), JAK2(NM_004972.3):c.2488C>T (p.L830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5081778C>T" "" "likely benign" "" "0000622278" "0" "30" "9" "5070058" "5070058" "subst" "0.000379139" "02326" "JAK2_000032" "g.5070058T>C" "" "" "" "JAK2(NM_001322194.1):c.1641+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5070058T>C" "" "likely benign" "" "0000622279" "0" "30" "9" "5126452" "5126452" "subst" "0.000291658" "02326" "JAK2_000034" "g.5126452A>C" "" "" "" "JAK2(NM_001322194.1):c.3291+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5126452A>C" "" "likely benign" "" "0000652728" "1" "50" "9" "5065000" "5065000" "subst" "0.000621535" "03575" "JAK2_000011" "g.5065000G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 6 heterozygous, no homozygous; {DB:CLININrs200018153}" "Germline" "" "rs200018153" "0" "" "" "g.5065000G>A" "" "VUS" "" "0000653187" "1" "90" "9" "5073770" "5073770" "subst" "0.000358996" "03575" "JAK2_000020" "g.5073770G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs77375493}" "Germline" "" "rs77375493" "0" "" "" "g.5073770G>T" "" "pathogenic" "" "0000656368" "0" "30" "9" "5022124" "5022124" "subst" "0.000101535" "01943" "JAK2_000035" "g.5022124C>A" "" "" "" "JAK2(NM_001322194.1):c.137C>A (p.S46Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022124C>A" "" "likely benign" "" "0000656369" "0" "50" "9" "5055681" "5055681" "subst" "0.0000208498" "02326" "JAK2_000036" "g.5055681T>C" "" "" "" "JAK2(NM_001322194.1):c.949T>C (p.Y317H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5055681T>C" "" "VUS" "" "0000656370" "0" "30" "9" "5072536" "5072536" "subst" "0.000447194" "02326" "JAK2_000037" "g.5072536C>T" "" "" "" "JAK2(NM_001322194.1):c.1686C>T (p.G562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5072536C>T" "" "likely benign" "" "0000675200" "0" "70" "9" "5126726" "5126726" "subst" "0" "03753" "JAK2_000042" "g.5126726C>T" "0.088" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000678688" "0" "30" "9" "5072561" "5072561" "subst" "0.000464654" "02326" "JAK2_000002" "g.5072561G>A" "" "" "" "JAK2(NM_001322194.1):c.1711G>A (p.G571S), JAK2(NM_004972.3):c.1711G>A (p.G571S, p.(Gly571Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678689" "0" "30" "9" "5078290" "5078290" "subst" "0.000804688" "02326" "JAK2_000038" "g.5078290C>T" "" "" "" "JAK2(NM_001322194.1):c.1993-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678690" "0" "30" "9" "5080214" "5080214" "subst" "0.000265388" "02326" "JAK2_000039" "g.5080214C>T" "" "" "" "JAK2(NM_001322194.1):c.2132-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678691" "0" "50" "9" "5090745" "5090745" "subst" "0.00000849618" "02325" "JAK2_000040" "g.5090745G>A" "" "" "" "JAK2(NM_001322194.2):c.2893G>A (p.E965K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678692" "0" "50" "9" "5126343" "5126343" "subst" "0.00438486" "02325" "JAK2_000041" "g.5126343G>A" "" "" "" "JAK2(NM_004972.3):c.3188G>A (p.R1063H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722543" "0" "50" "9" "5022204" "5022204" "subst" "0" "02325" "JAK2_000043" "g.5022204A>G" "" "" "" "JAK2(NM_004972.3):c.217A>G (p.K73E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804160" "0" "10" "9" "5044432" "5044432" "subst" "0.00173758" "02326" "JAK2_000044" "g.5044432G>A" "" "" "" "JAK2(NM_004972.3):c.380G>A (p.G127D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804161" "0" "30" "9" "5065003" "5065003" "subst" "0.00759568" "02326" "JAK2_000045" "g.5065003C>G" "" "" "" "JAK2(NM_004972.3):c.1177C>G (p.L393V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804162" "0" "30" "9" "5065005" "5065005" "subst" "0" "02326" "JAK2_000046" "g.5065005T>G" "" "" "" "JAK2(NM_004972.3):c.1179T>G (p.L393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804163" "0" "90" "9" "5089726" "5089726" "subst" "0" "02327" "JAK2_000047" "g.5089726C>A" "" "" "" "" "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 JAK2 ## Count = 53 "{{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}}" "0000021325" "00010251" "95" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Ile)" "14" "0000079484" "00010251" "00" "-4781635" "0" "3075607" "0" "c.-4781635_*3072208del" "r.0?" "p.0?" "" "0000281625" "00010251" "10" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Leu830=)" "" "0000289914" "00010251" "50" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Ser)" "" "0000289915" "00010251" "50" "3187" "0" "3187" "0" "c.3187C>T" "r.(?)" "p.(Arg1063Cys)" "" "0000332556" "00010251" "50" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Ser)" "" "0000332557" "00010251" "50" "2768" "0" "2768" "0" "c.2768G>A" "r.(?)" "p.(Arg923His)" "" "0000344477" "00010251" "50" "2882" "0" "2882" "0" "c.2882G>C" "r.(?)" "p.(Cys961Ser)" "" "0000392015" "00010251" "90" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "11" "0000538297" "00010251" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Tyr44=)" "" "0000538298" "00010251" "30" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Gly48Glu)" "" "0000538299" "00010251" "30" "337" "0" "337" "0" "c.337C>G" "r.(?)" "p.(Leu113Val)" "" "0000538300" "00010251" "10" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(His163=)" "" "0000538301" "00010251" "30" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Met)" "" "0000538302" "00010251" "50" "1220" "0" "1220" "0" "c.1220A>T" "r.(?)" "p.(Asp407Val)" "" "0000538303" "00010251" "30" "1356" "0" "1356" "0" "c.1356T>C" "r.(?)" "p.(Cys452=)" "" "0000538304" "00010251" "50" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Glu484Gln)" "" "0000538305" "00010251" "10" "1458" "0" "1458" "0" "c.1458T>G" "r.(?)" "p.(Val486=)" "" "0000538306" "00010251" "30" "1777" "-6" "1777" "-6" "c.1777-6C>T" "r.(=)" "p.(=)" "" "0000538307" "00010251" "30" "1777" "-5" "1777" "-5" "c.1777-5C>T" "r.spl?" "p.?" "" "0000538308" "00010251" "30" "1777" "-2" "1777" "-2" "c.1777-2A>T" "r.spl?" "p.?" "" "0000538310" "00010251" "90" "1849" "0" "1849" "0" "c.1849G>T" "r.(?)" "p.(Val617Phe)" "" "0000538311" "00010251" "50" "2183" "0" "2183" "0" "c.2183A>C" "r.(?)" "p.(Lys728Thr)" "" "0000538312" "00010251" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Asp820=)" "" "0000538313" "00010251" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Leu830=)" "" "0000538314" "00010251" "50" "2767" "0" "2767" "0" "c.2767C>T" "r.(?)" "p.(Arg923Cys)" "" "0000538315" "00010251" "30" "2850" "0" "2850" "0" "c.2850C>T" "r.(?)" "p.(His950=)" "" "0000538316" "00010251" "30" "3060" "-9" "3060" "-9" "c.3060-9T>C" "r.(=)" "p.(=)" "" "0000538317" "00010251" "30" "3130" "0" "3130" "0" "c.3130C>T" "r.(?)" "p.(Leu1044=)" "" "0000538318" "00010251" "30" "3323" "0" "3323" "0" "c.3323A>G" "r.(?)" "p.(Asn1108Ser)" "" "0000538319" "00010251" "50" "3355" "0" "3355" "0" "c.3355C>G" "r.(?)" "p.(Leu1119Val)" "" "0000578991" "00010251" "90" "1624" "0" "1629" "0" "c.1624_1629del" "r.(?)" "p.(Asn542_Glu543del)" "" "0000612146" "00010251" "30" "1513" "8" "1513" "8" "c.1513+8A>G" "r.(=)" "p.(=)" "" "0000612147" "00010251" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Tyr570=)" "" "0000612148" "00010251" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Leu830=)" "" "0000622278" "00010251" "30" "1641" "6" "1641" "6" "c.1641+6T>C" "r.(=)" "p.(=)" "" "0000622279" "00010251" "30" "3291" "6" "3291" "6" "c.3291+6A>C" "r.(=)" "p.(=)" "" "0000652728" "00010251" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Met)" "" "0000653187" "00010251" "90" "1849" "0" "1849" "0" "c.1849G>T" "r.(?)" "p.(Val617Phe)" "" "0000656368" "00010251" "30" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Ser46Tyr)" "" "0000656369" "00010251" "50" "949" "0" "949" "0" "c.949T>C" "r.(?)" "p.(Tyr317His)" "" "0000656370" "00010251" "30" "1686" "0" "1686" "0" "c.1686C>T" "r.(?)" "p.(Gly562=)" "" "0000675200" "00010251" "70" "3334" "0" "3334" "0" "c.3334C>T" "r.(?)" "p.(Gln1112*)" "" "0000678688" "00010251" "30" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Ser)" "" "0000678689" "00010251" "30" "1993" "-16" "1993" "-16" "c.1993-16C>T" "r.(=)" "p.(=)" "" "0000678690" "00010251" "30" "2132" "-15" "2132" "-15" "c.2132-15C>T" "r.(=)" "p.(=)" "" "0000678691" "00010251" "50" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Glu965Lys)" "" "0000678692" "00010251" "50" "3188" "0" "3188" "0" "c.3188G>A" "r.(?)" "p.(Arg1063His)" "" "0000722543" "00010251" "50" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Lys73Glu)" "" "0000804160" "00010251" "10" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Gly127Asp)" "" "0000804161" "00010251" "30" "1177" "0" "1177" "0" "c.1177C>G" "r.(?)" "p.(Leu393Val)" "" "0000804162" "00010251" "30" "1179" "0" "1179" "0" "c.1179T>G" "r.(?)" "p.(Leu393=)" "" "0000804163" "00010251" "90" "2624" "0" "2624" "0" "c.2624C>A" "r.(?)" "p.(Thr875Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000002935" "0000021325" "0000050504" "0000079484" "0000079993" "0000578991" "0000171718" "0000392015" "0000296039" "0000652728" "0000296498" "0000653187" "0000308283" "0000675200"