### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAP3K1) # 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}}" "MAP3K1" "mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase" "5" "q11.2" "unknown" "LRG_1222" "UD_132438859652" "" "https://www.LOVD.nl/MAP3K1" "" "1" "6848" "4214" "600982" "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/MAP3K1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-28 12:45:54" "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}}" "00011748" "MAP3K1" "mitogen-activated protein kinase kinase kinase 1" "001" "NM_005921.1" "" "NP_005912.1" "" "" "" "-501" "7011" "4539" "56110900" "56191979" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "03423" "SRXY6" "46,XY sex reversal, type 6 (SRXY-6)" "AD" "613762" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 2 "{{geneid}}" "{{diseaseid}}" "MAP3K1" "03423" "MAP3K1" "05597" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00231267" "" "" "" "11" "" "00006" "{PMID:Pearlman 2010:21129722}" "5-generation family, 11 affected (5F, 6M)" "F;M" "" "France" "" "0" "" "" "" "Fam1" "00231268" "" "" "" "5" "" "00006" "{PMID:Pearlman 2010:21129722}" "3-generation family, 5 affected (5F)" "F" "" "New Zealand" "" "0" "" "" "" "Fam2" "00231269" "" "" "" "1" "" "00006" "{PMID:Pearlman 2010:21129722}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00231270" "" "" "" "1" "" "00006" "{PMID:Pearlman 2010:21129722}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00231271" "" "" "" "1" "" "00006" "{PMID:Loke 2014:24135036}" "" "F" "" "" "" "0" "" "" "" "patient" "00231272" "" "" "" "1" "" "00006" "{PMID:Loke 2014:24135036}" "3-generation family, 3 affected 46,XY females" "F" "" "" "" "0" "" "" "" "family" "00231273" "" "" "" "1" "" "00006" "{PMID:Baxter 2015:25383892}" "" "F" "" "United States" "" "0" "" "" "" "RDSD014" "00231274" "" "" "" "1" "" "00006" "{PMID:Baxter 2015:25383892}" "" "F" "" "United States" "" "0" "" "" "" "RDSD017" "00231275" "" "" "" "1" "" "00006" "{PMID:Baxter 2015:25383892}" "" "rM" "" "United States" "" "0" "" "" "" "RDSD023" "00231276" "" "" "" "1" "" "00006" "{PMID:Baxter 2015:25383892}" "" "M" "" "United States" "" "0" "" "" "" "CDSD040" "00231277" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00231278" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat249" "00231279" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat141" "00231280" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat194" "00231281" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "F" "" "" "" "0" "" "" "" "Pat10" "00231282" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "F" "" "" "" "0" "" "" "" "Pat141" "00231283" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat148" "00231284" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat175" "00231285" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat166" "00231286" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat229" "00231287" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "F" "" "" "" "0" "" "" "" "Pat214" "00231288" "" "" "" "2" "" "00006" "{PMID:Granados 2017:28504475}" "2-generation family, 2 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX)" "rF" "" "United States" "" "0" "" "" "white" "Fam1" "00231289" "" "" "" "2" "" "00006" "{PMID:Granados 2017:28504475}" "2-generation family, 3 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX)" "rF" "" "United States" "" "0" "" "" "white" "Fam2" "00231290" "" "" "" "1" "" "00006" "{PMID:Granados 2017:28504475}" "" "rF" "" "United States" "" "0" "" "" "African American" "Pat5" "00231291" "" "" "" "1" "" "00006" "{PMID:Granados 2017:28504475}" "" "rF" "" "United States" "" "0" "" "" "African American" "Pat6" "00248239" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00293885" "" "" "" "167" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305037" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00231267" "05597" "00231268" "05597" "00231269" "05597" "00231270" "05597" "00231271" "05597" "00231272" "05597" "00231273" "05597" "00231274" "05597" "00231275" "05597" "00231276" "05597" "00231277" "05597" "00231278" "05597" "00231279" "05597" "00231280" "05597" "00231281" "05597" "00231282" "05597" "00231283" "05597" "00231284" "05597" "00231285" "05597" "00231286" "05597" "00231287" "05597" "00231288" "05597" "00231289" "05597" "00231290" "05597" "00231291" "05597" "00248239" "00318" "00293885" "00198" "00305037" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 03423, 05597 ## Count = 26 "{{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}}" "0000173705" "05597" "00231267" "00006" "Familial, autosomal dominant" "" "complete gonadal dysgenesis (2), partial gonadal dysgenesis (4), gonadal tumors (3), first degree hypospadias with chordee (1); micropenis, cryptorchidism, perineal hypospadias (1); perineal hypospadias only (2)" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173706" "05597" "00231268" "00006" "Familial, autosomal dominant" "" "Complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173707" "05597" "00231269" "00006" "Isolated (sporadic)" "" "Complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173708" "05597" "00231270" "00006" "Isolated (sporadic)" "" "Complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173709" "05597" "00231271" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173710" "05597" "00231272" "00006" "Familial, autosomal dominant" "" "see paper; …, gonadal dysgenesis, unvirilized female phenotype and dysgenetic gonads" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173711" "05597" "00231273" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173712" "05597" "00231274" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, hypoplastic partial bicornuate uterus with cervix, Fallopian tubes, bilateral streak gonads, tall stature, primary amenorrhea" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173713" "05597" "00231275" "00006" "Isolated (sporadic)" "" "46,XY, microphallus, chordee, hypospadias, incompletely fused scrotum, ovotestis with Fallopian tube and partial uterus, contralateral normal testis; familial normal male hormonal profile" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173714" "05597" "00231276" "00006" "Isolated (sporadic)" "" "46,XY, perineal hypospadias, 2-cm phallus, bifid scrotum, penoscrotal transposition, no Müllerian structures, bilateral descended testes, no gonadal dysgenesis, premature birth, intrauterine growth restriction; SRY present, normal InhB, AMH, T, dihydrotestosterone" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173715" "05597" "00231277" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173716" "05597" "00231278" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, hypospadias" "" "" "" "" "" "" "" "" "" "disorder of sex development" "" "0000173717" "05597" "00231279" "00006" "Isolated (sporadic)" "" "see paper; …, 46,XY disorder of sex development (unknown origin)" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173718" "05597" "00231280" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, partial gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173719" "05597" "00231281" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173720" "05597" "00231282" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173721" "05597" "00231283" "00006" "Isolated (sporadic)" "" "see paper; …, 46,XY disorder of sex development (unknown origin)" "" "" "" "" "" "" "" "" "" "disorder of sex development" "" "0000173722" "05597" "00231284" "00006" "Isolated (sporadic)" "" "see paper; …, 46,XY disorder of sex development (unknown origin)" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173723" "05597" "00231285" "00006" "Isolated (sporadic)" "" "see paper; …, 46,XY disorder of sex development (unknown origin)" "" "" "" "" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173724" "05597" "00231286" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, hypospadias" "" "" "" "no muscle available" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173725" "05597" "00231287" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, complete gonadal dysgenesis" "" "" "" "no muscle available" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173726" "05597" "00231288" "00006" "Familial, autosomal dominant" "" "see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1); gonadal tumor (1)" "" "" "" "no muscle available" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173727" "05597" "00231289" "00006" "Familial, autosomal dominant" "" "see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1)" "" "" "" "no muscle available" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173728" "05597" "00231290" "00006" "Isolated (sporadic)" "" "see paper; …, partial gonadal dysgenesis" "" "" "" "no muscle available" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000173729" "05597" "00231291" "00006" "Isolated (sporadic)" "" "see paper; …, complete gonadal dysgenesis" "" "" "" "no muscle available" "" "" "" "" "SRXY-6" "disorder of sex development" "" "0000187248" "00318" "00248239" "01474" "Unknown" "" "40y breast cancer" "40y" "" "" "" "" "" "" "" "" "breast cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232366" "00231267" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232367" "00231268" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232368" "00231269" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232369" "00231270" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232370" "00231271" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232371" "00231272" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232372" "00231273" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232373" "00231274" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232374" "00231275" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232375" "00231276" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232376" "00231277" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232377" "00231278" "1" "00006" "00006" "2019-04-28 15:14:10" "00006" "2019-04-28 15:48:51" "SEQ" "DNA" "" "" "0000232378" "00231279" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232379" "00231280" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232380" "00231281" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232381" "00231282" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232382" "00231283" "1" "00006" "00006" "2019-04-28 15:14:10" "00006" "2019-04-28 15:56:58" "SEQ" "DNA" "" "" "0000232383" "00231284" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232384" "00231285" "1" "00006" "00006" "2019-04-28 15:14:10" "00006" "2019-04-28 15:54:58" "SEQ" "DNA" "" "" "0000232385" "00231286" "1" "00006" "00006" "2019-04-28 15:14:10" "00006" "2019-04-28 15:53:06" "SEQ" "DNA" "" "" "0000232386" "00231287" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232387" "00231288" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232388" "00231289" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232389" "00231290" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000232390" "00231291" "1" "00006" "00006" "2019-04-28 15:14:10" "" "" "SEQ" "DNA" "" "" "0000249344" "00248239" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000295053" "00293885" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306166" "00305037" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000232366" "MAP3K1" "0000232367" "MAP3K1" "0000232368" "MAP3K1" "0000232369" "MAP3K1" "0000232370" "MAP3K1" "0000232371" "MAP3K1" "0000232372" "MAP3K1" "0000232373" "MAP3K1" "0000232374" "MAP3K1" "0000232375" "MAP3K1" "0000232376" "MAP3K1" "0000232377" "MAP3K1" "0000232377" "ZFPM2" "0000232378" "MAP3K1" "0000232379" "MAP3K1" "0000232380" "MAP3K1" "0000232381" "MAP3K1" "0000232382" "LHCGR" "0000232382" "MAP3K1" "0000232383" "MAP3K1" "0000232384" "MAP3K1" "0000232384" "WT1" "0000232385" "MAP3K1" "0000232385" "WDR11" "0000232386" "MAP3K1" "0000232387" "MAP3K1" "0000232388" "MAP3K1" "0000232389" "MAP3K1" "0000232390" "MAP3K1" ## 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 = 92 "{{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}}" "0000247953" "0" "10" "5" "56178217" "56178217" "subst" "0.758689" "02325" "MAP3K1_000017" "g.56178217A>C" "" "" "" "MAP3K1(NM_005921.1):c.3190A>C (p.R1064=), MAP3K1(NM_005921.2):c.3190A>C (p.R1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882390A>C" "" "benign" "" "0000253214" "0" "10" "5" "56178217" "56178217" "subst" "0.758689" "01943" "MAP3K1_000017" "g.56178217A>C" "" "" "" "MAP3K1(NM_005921.1):c.3190A>C (p.R1064=), MAP3K1(NM_005921.2):c.3190A>C (p.R1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882390A>C" "" "benign" "" "0000253642" "0" "10" "5" "56155672" "56155672" "subst" "0.0194944" "01943" "MAP3K1_000007" "g.56155672A>G" "" "" "" "MAP3K1(NM_005921.1):c.764A>G (p.N255S, p.(Asn255Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56859845A>G" "" "benign" "" "0000253659" "0" "10" "5" "56178111" "56178111" "subst" "0.0718601" "01943" "MAP3K1_000016" "g.56178111A>G" "" "" "" "MAP3K1(NM_005921.1):c.3084A>G (p.Q1028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882284A>G" "" "benign" "" "0000253791" "0" "10" "5" "56180480" "56180480" "subst" "0.152333" "01943" "MAP3K1_000020" "g.56180480A>G" "" "" "" "MAP3K1(NM_005921.1):c.3820-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56884653A>G" "" "benign" "" "0000282381" "0" "10" "5" "56177443" "56177443" "subst" "0.595096" "02325" "MAP3K1_000009" "g.56177443G>A" "" "" "" "MAP3K1(NM_005921.1):c.2416G>A (p.D806N), MAP3K1(NM_005921.2):c.2416G>A (p.D806N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56881616G>A" "" "benign" "" "0000282382" "0" "10" "5" "56177743" "56177743" "subst" "0.758346" "02325" "MAP3K1_000010" "g.56177743G>A" "" "" "" "MAP3K1(NM_005921.1):c.2716G>A (p.V906I), MAP3K1(NM_005921.2):c.2716G>A (p.V906I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56881916G>A" "" "benign" "" "0000282383" "0" "10" "5" "56177872" "56177874" "del" "0" "02325" "MAP3K1_000015" "g.56177872_56177874del" "" "" "" "MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882045_56882047del" "" "benign" "" "0000282384" "0" "10" "5" "56111751" "56111751" "subst" "0.783579" "02325" "MAP3K1_000003" "g.56111751G>C" "" "" "" "MAP3K1(NM_005921.1):c.351G>C (p.A117=), MAP3K1(NM_005921.2):c.351G>C (p.A117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56815924G>C" "" "benign" "" "0000282385" "0" "10" "5" "56152416" "56152416" "subst" "0.606999" "02325" "MAP3K1_000005" "g.56152416C>A" "" "" "" "MAP3K1(NM_005921.1):c.483-11C>A, MAP3K1(NM_005921.2):c.483-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56856589C>A" "" "benign" "" "0000286109" "0" "10" "5" "56177872" "56177874" "del" "0" "02326" "MAP3K1_000012" "g.56177872_56177874del" "" "" "" "MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882045_56882047del" "" "benign" "" "0000291444" "0" "70" "5" "56111552" "56111552" "subst" "8.40937E-5" "01943" "MAP3K1_000001" "g.56111552G>C" "" "" "" "MAP3K1(NM_005921.1):c.152G>C (p.G51A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56815725G>C" "" "likely pathogenic" "" "0000291445" "0" "10" "5" "56168712" "56168712" "subst" "0.0480815" "01943" "MAP3K1_000008" "g.56168712C>T" "" "" "" "MAP3K1(NM_005921.1):c.1566C>T (p.T522=), MAP3K1(NM_005921.2):c.1566C>T (p.(Thr522=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56872885C>T" "" "benign" "" "0000291446" "0" "10" "5" "56177443" "56177443" "subst" "0.595096" "01943" "MAP3K1_000009" "g.56177443G>A" "" "" "" "MAP3K1(NM_005921.1):c.2416G>A (p.D806N), MAP3K1(NM_005921.2):c.2416G>A (p.D806N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56881616G>A" "" "benign" "" "0000291447" "0" "30" "5" "56111641" "56111641" "subst" "0" "01943" "MAP3K1_000002" "g.56111641G>T" "" "" "" "MAP3K1(NM_005921.1):c.241G>T (p.A81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56815814G>T" "" "likely benign" "" "0000291448" "0" "10" "5" "56177743" "56177743" "subst" "0.758346" "01943" "MAP3K1_000010" "g.56177743G>A" "" "" "" "MAP3K1(NM_005921.1):c.2716G>A (p.V906I), MAP3K1(NM_005921.2):c.2716G>A (p.V906I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56881916G>A" "" "benign" "" "0000291449" "0" "10" "5" "56177843" "56177843" "subst" "0.0156989" "01943" "MAP3K1_000011" "g.56177843C>G" "" "" "" "MAP3K1(NM_005921.1):c.2816C>G (p.S939C, p.(Ser939Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882016C>G" "" "benign" "" "0000291450" "0" "10" "5" "56177872" "56177874" "del" "0" "01943" "MAP3K1_000012" "g.56177872_56177874del" "" "" "" "MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882045_56882047del" "" "benign" "" "0000291451" "0" "50" "5" "56178344" "56178344" "subst" "1.62926E-5" "01943" "MAP3K1_000018" "g.56178344T>C" "" "" "" "MAP3K1(NM_005921.1):c.3317T>C (p.I1106T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882517T>C" "" "VUS" "" "0000291452" "0" "10" "5" "56111751" "56111751" "subst" "0.783579" "01943" "MAP3K1_000003" "g.56111751G>C" "" "" "" "MAP3K1(NM_005921.1):c.351G>C (p.A117=), MAP3K1(NM_005921.2):c.351G>C (p.A117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56815924G>C" "" "benign" "" "0000291453" "0" "10" "5" "56179341" "56179341" "subst" "0.146402" "01943" "MAP3K1_000019" "g.56179341G>A" "" "" "" "MAP3K1(NM_005921.1):c.3667-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56883514G>A" "" "benign" "" "0000291454" "0" "50" "5" "56111800" "56111800" "subst" "0" "01943" "MAP3K1_000004" "g.56111800G>A" "" "" "" "MAP3K1(NM_005921.1):c.400G>A (p.G134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56815973G>A" "" "VUS" "" "0000291455" "0" "10" "5" "56152416" "56152416" "subst" "0.606999" "01943" "MAP3K1_000005" "g.56152416C>A" "" "" "" "MAP3K1(NM_005921.1):c.483-11C>A, MAP3K1(NM_005921.2):c.483-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56856589C>A" "" "benign" "" "0000291456" "0" "30" "5" "56155628" "56155628" "subst" "0.00152674" "01943" "MAP3K1_000006" "g.56155628G>A" "" "" "" "MAP3K1(NM_005921.1):c.720G>A (p.A240=), MAP3K1(NM_005921.2):c.720G>A (p.A240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56859801G>A" "" "likely benign" "" "0000330368" "0" "50" "5" "56177869" "56177874" "del" "0" "01804" "MAP3K1_000013" "g.56177869_56177874del" "" "" "" "MAP3K1(NM_005921.1):c.2822_2827del (p.(Thr944_Thr945del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882042_56882047del" "" "VUS" "" "0000330369" "0" "50" "5" "56177872" "56177874" "del" "0" "01804" "MAP3K1_000014" "g.56177872_56177874del" "" "" "" "MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56882045_56882047del" "" "VUS" "" "0000474761" "1" "90" "5" "56155534" "56155534" "subst" "0" "00006" "MAP3K1_000037" "g.56155534T>A" "" "{PMID:Pearlman 2010:21129722}" "" "" "" "Germline" "" "" "0" "" "" "g.56859707T>A" "" "pathogenic (dominant)" "" "0000474762" "1" "90" "5" "56171018" "56171018" "subst" "0.000630568" "00006" "MAP3K1_000021" "g.56171018G>A" "" "{PMID:Pearlman 2010:21129722}" "" "" "" "Germline" "" "" "0" "" "" "g.56875191G>A" "" "pathogenic (dominant)" "" "0000474763" "1" "70" "5" "56152510" "56152510" "subst" "0" "00006" "MAP3K1_000022" "g.56152510T>C" "" "{PMID:Pearlman 2010:21129722}" "" "" "" "Germline" "" "" "0" "" "" "g.56856683T>C" "" "likely pathogenic (dominant)" "" "0000474764" "1" "70" "5" "56152510" "56152510" "subst" "0" "00006" "MAP3K1_000023" "g.56152510T>G" "" "{PMID:Pearlman 2010:21129722}" "" "" "" "Germline" "" "" "0" "" "" "g.56856683T>G" "" "likely pathogenic (dominant)" "" "0000474765" "1" "70" "5" "56111858" "56111858" "subst" "0" "00006" "MAP3K1_000024" "g.56111858C>T" "" "{PMID:Loke 2014:24135036}" "" "" "" "Germline" "" "" "0" "" "" "g.56816031C>T" "" "likely pathogenic (dominant)" "" "0000474766" "1" "90" "5" "56176908" "56176908" "subst" "0" "00006" "MAP3K1_000025" "g.56176908A>G" "" "{PMID:Loke 2014:24135036}" "" "" "" "Germline" "" "" "0" "" "" "g.56881081A>G" "" "pathogenic (dominant)" "" "0000474767" "1" "90" "5" "56171018" "56171018" "subst" "0.000630568" "00006" "MAP3K1_000021" "g.56171018G>A" "" "{PMID:Baxter 2015:25383892}" "" "" "" "Germline" "" "" "0" "" "" "g.56875191G>A" "" "pathogenic (dominant)" "" "0000474768" "1" "70" "5" "56160742" "56160742" "subst" "0" "00006" "MAP3K1_000026" "g.56160742G>A" "" "{PMID:Baxter 2015:25383892}" "" "" "" "Germline" "" "" "0" "" "" "g.56864915G>A" "" "likely pathogenic (dominant)" "" "0000474769" "1" "90" "5" "56171018" "56171018" "subst" "0.000630568" "00006" "MAP3K1_000021" "g.56171018G>A" "" "{PMID:Baxter 2015:25383892}" "" "" "" "Germline" "" "" "0" "" "" "g.56875191G>A" "" "pathogenic (dominant)" "" "0000474770" "1" "70" "5" "56155678" "56155678" "subst" "0.000550616" "00006" "MAP3K1_000027" "g.56155678C>T" "" "{PMID:Baxter 2015:25383892}" "" "" "" "Germline" "" "" "0" "" "" "g.56859851C>T" "" "likely pathogenic (dominant)" "" "0000474771" "1" "70" "5" "56174912" "56174912" "subst" "0" "00006" "MAP3K1_000028" "g.56174912T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56879085T>C" "" "likely pathogenic (dominant)" "" "0000474772" "1" "50" "5" "56111794" "56111794" "subst" "0.00260334" "00006" "MAP3K1_000029" "g.56111794G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56815967G>C" "" "VUS" "" "0000474773" "1" "70" "5" "56184123" "56184123" "subst" "4.06673E-6" "00006" "MAP3K1_000030" "g.56184123C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56888296C>T" "" "likely pathogenic (dominant)" "" "0000474774" "1" "70" "5" "56184123" "56184123" "subst" "4.06673E-6" "00006" "MAP3K1_000030" "g.56184123C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56888296C>T" "" "likely pathogenic (dominant)" "" "0000474775" "1" "90" "5" "56152510" "56152510" "subst" "0" "00006" "MAP3K1_000023" "g.56152510T>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56856683T>G" "" "pathogenic (dominant)" "" "0000474776" "1" "90" "5" "56152510" "56152510" "subst" "0" "00006" "MAP3K1_000023" "g.56152510T>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56856683T>G" "" "pathogenic (dominant)" "" "0000474777" "1" "50" "5" "56155618" "56155618" "subst" "0.00152573" "00006" "MAP3K1_000031" "g.56155618A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56859791A>G" "" "VUS" "" "0000474778" "1" "70" "5" "56160660" "56160660" "subst" "4.87797E-5" "00006" "MAP3K1_000032" "g.56160660A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56864833A>T" "" "likely pathogenic (dominant)" "" "0000474779" "1" "70" "5" "56160660" "56160660" "subst" "4.87797E-5" "00006" "MAP3K1_000032" "g.56160660A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56864833A>T" "" "likely pathogenic (dominant)" "" "0000474780" "1" "70" "5" "56160660" "56160660" "subst" "4.87797E-5" "00006" "MAP3K1_000032" "g.56160660A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56864833A>T" "" "likely pathogenic (dominant)" "" "0000474781" "1" "70" "5" "56160660" "56160660" "subst" "4.87797E-5" "00006" "MAP3K1_000032" "g.56160660A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "" "g.56864833A>T" "" "likely pathogenic (dominant)" "" "0000474782" "1" "70" "5" "56111414" "56111416" "dup" "0" "00006" "MAP3K1_000033" "g.56111414_56111416dup" "" "{PMID:Granados 2017:28504475}" "" "14_16insCGG" "" "Germline" "" "" "0" "" "" "g.56815587_56815589dup" "" "likely pathogenic (dominant)" "" "0000474783" "1" "70" "5" "56170932" "56170932" "subst" "0" "00006" "MAP3K1_000034" "g.56170932T>A" "" "{PMID:Granados 2017:28504475}" "" "" "" "Germline" "" "" "0" "" "" "g.56875105T>A" "" "likely pathogenic (dominant)" "" "0000474784" "1" "70" "5" "56177021" "56177021" "subst" "0" "00006" "MAP3K1_000035" "g.56177021T>G" "" "{PMID:Granados 2017:28504475}" "" "" "" "Germline" "" "" "0" "" "" "g.56881194T>G" "" "likely pathogenic (dominant)" "" "0000474785" "1" "70" "5" "56152510" "56152510" "subst" "0" "00006" "MAP3K1_000036" "g.56152510T>A" "" "{PMID:Granados 2017:28504475}" "" "" "" "Germline" "" "" "0" "" "" "g.56856683T>A" "" "likely pathogenic (dominant)" "" "0000525838" "0" "50" "5" "56111414" "56111416" "dup" "0" "02329" "MAP3K1_000033" "g.56111414_56111416dup" "" "" "" "MAP3K1(NM_005921.1):c.14_16dupCGG (p.(Ala5dup)), MAP3K1(NM_005921.2):c.14_16dupCGG (p.A5dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56815587_56815589dup" "" "VUS" "" "0000525839" "0" "50" "5" "56111585" "56111585" "subst" "4.26124E-5" "01804" "MAP3K1_000038" "g.56111585T>G" "" "" "" "MAP3K1(NM_005921.1):c.185T>G (p.(Leu62Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56815758T>G" "" "VUS" "" "0000525840" "0" "30" "5" "56111616" "56111616" "subst" "0" "01804" "MAP3K1_000039" "g.56111616G>C" "" "" "" "MAP3K1(NM_005921.1):c.216G>C (p.(Gln72His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56815789G>C" "" "likely benign" "" "0000525842" "0" "30" "5" "56155672" "56155672" "subst" "0.0194944" "01804" "MAP3K1_000007" "g.56155672A>G" "" "" "" "MAP3K1(NM_005921.1):c.764A>G (p.N255S, p.(Asn255Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56859845A>G" "" "likely benign" "" "0000525843" "0" "50" "5" "56160643" "56160643" "subst" "8.5379E-5" "01943" "MAP3K1_000040" "g.56160643G>A" "" "" "" "MAP3K1(NM_005921.1):c.917G>A (p.R306H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56864816G>A" "" "VUS" "" "0000525844" "0" "10" "5" "56161787" "56161787" "subst" "0.84277" "01943" "MAP3K1_000041" "g.56161787G>A" "" "" "" "MAP3K1(NM_005921.1):c.1284G>A (p.T428=), MAP3K1(NM_005921.2):c.1284G>A (p.T428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56865960G>A" "" "benign" "" "0000525845" "0" "10" "5" "56161787" "56161787" "subst" "0.84277" "02325" "MAP3K1_000041" "g.56161787G>A" "" "" "" "MAP3K1(NM_005921.1):c.1284G>A (p.T428=), MAP3K1(NM_005921.2):c.1284G>A (p.T428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56865960G>A" "" "benign" "" "0000525846" "0" "10" "5" "56161787" "56161787" "subst" "0.84277" "02326" "MAP3K1_000041" "g.56161787G>A" "" "" "" "MAP3K1(NM_005921.1):c.1284G>A (p.T428=), MAP3K1(NM_005921.2):c.1284G>A (p.T428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56865960G>A" "" "benign" "" "0000525847" "0" "30" "5" "56171018" "56171018" "subst" "0.000630568" "02327" "MAP3K1_000021" "g.56171018G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56875191G>A" "" "likely benign" "" "0000525849" "0" "10" "5" "56177369" "56177369" "subst" "0.0136732" "02326" "MAP3K1_000043" "g.56177369T>C" "" "" "" "MAP3K1(NM_005921.2):c.2370-28T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56881542T>C" "" "benign" "" "0000525850" "0" "30" "5" "56177843" "56177843" "subst" "0.0156989" "01804" "MAP3K1_000011" "g.56177843C>G" "" "" "" "MAP3K1(NM_005921.1):c.2816C>G (p.S939C, p.(Ser939Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56882016C>G" "" "likely benign" "" "0000525851" "0" "30" "5" "56177863" "56177874" "del" "0" "01804" "MAP3K1_000044" "g.56177863_56177874del" "" "" "" "MAP3K1(NM_005921.1):c.2822_2833del (p.(Thr946_Thr949del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56882036_56882047del" "" "likely benign" "" "0000525852" "0" "30" "5" "56177872" "56177874" "dup" "0" "01943" "MAP3K1_000045" "g.56177872_56177874dup" "" "" "" "MAP3K1(NM_005921.1):c.2845_2847dupACA (p.T949dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56882045_56882047dup" "" "likely benign" "" "0000525853" "0" "50" "5" "56180485" "56180485" "subst" "0" "01804" "MAP3K1_000046" "g.56180485A>T" "" "" "" "MAP3K1(NM_005921.1):c.3820-6A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56884658A>T" "" "VUS" "" "0000525854" "0" "50" "5" "56183331" "56183331" "subst" "0" "01804" "MAP3K1_000048" "g.56183331C>G" "" "" "" "MAP3K1(NM_005921.1):c.4241C>G (p.(Ala1414Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56887504C>G" "" "VUS" "" "0000578103" "0" "50" "5" "56183241" "56183241" "dup" "0" "01474" "MAP3K1_000047" "g.56183241dup" "" "{PMID:Lhota 2016:26822949}" "" "4151dupT" "" "Germline" "" "" "0" "" "" "g.56887414dup" "" "VUS" "" "0000621579" "0" "50" "5" "56155665" "56155665" "subst" "0" "01943" "MAP3K1_000049" "g.56155665C>T" "" "" "" "MAP3K1(NM_005921.1):c.757C>T (p.P253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56859838C>T" "" "VUS" "" "0000651742" "1" "10" "5" "56168712" "56168712" "subst" "0.0480815" "03575" "MAP3K1_000008" "g.56168712C>T" "167/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "167 heterozygous; {DB:CLININrs2229882}" "Germline" "" "rs2229882" "0" "" "" "g.56872885C>T" "" "benign" "" "0000655395" "0" "30" "5" "56111425" "56111425" "subst" "0" "01943" "MAP3K1_000050" "g.56111425G>A" "" "" "" "MAP3K1(NM_005921.1):c.25G>A (p.A9T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56815598G>A" "" "likely benign" "" "0000669854" "3" "10" "5" "56168712" "56168712" "subst" "0.0480815" "03575" "MAP3K1_000008" "g.56168712C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs2229882}" "Germline" "" "rs2229882" "0" "" "" "g.56872885C>T" "" "benign" "" "0000720463" "0" "30" "5" "56111858" "56111858" "subst" "0" "01943" "MAP3K1_000024" "g.56111858C>T" "" "" "" "MAP3K1(NM_005921.1):c.458C>T (p.P153L), MAP3K1(NM_005921.2):c.458C>T (p.(Pro153Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720464" "0" "30" "5" "56178587" "56178587" "subst" "0.000102411" "01943" "MAP3K1_000051" "g.56178587A>C" "" "" "" "MAP3K1(NM_005921.1):c.3560A>C (p.E1187A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859973" "0" "30" "5" "56111415" "56111415" "subst" "0.00116792" "01804" "MAP3K1_000052" "g.56111415G>A" "" "" "" "MAP3K1(NM_005921.1):c.15G>A (p.(Ala5=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859974" "0" "30" "5" "56111858" "56111858" "subst" "0" "01943" "MAP3K1_000053" "g.56111858C>A" "" "" "" "MAP3K1(NM_005921.1):c.458C>A (p.P153Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859975" "0" "30" "5" "56184123" "56184123" "subst" "4.06673E-6" "01943" "MAP3K1_000030" "g.56184123C>T" "" "" "" "MAP3K1(NM_005921.1):c.4328C>T (p.A1443V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929091" "0" "30" "5" "56155628" "56155628" "subst" "0.00152674" "02326" "MAP3K1_000006" "g.56155628G>A" "" "" "" "MAP3K1(NM_005921.1):c.720G>A (p.A240=), MAP3K1(NM_005921.2):c.720G>A (p.A240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976812" "0" "30" "5" "56111858" "56111858" "subst" "0" "01804" "MAP3K1_000024" "g.56111858C>T" "" "" "" "MAP3K1(NM_005921.1):c.458C>T (p.P153L), MAP3K1(NM_005921.2):c.458C>T (p.(Pro153Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976813" "0" "50" "5" "56177992" "56177994" "del" "0" "01804" "MAP3K1_000054" "g.56177992_56177994del" "" "" "" "MAP3K1(NM_005921.1):c.2965_2967delTCT (p.(Ser989del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976814" "0" "50" "5" "56178587" "56178589" "del" "0" "01804" "MAP3K1_000055" "g.56178587_56178589del" "" "" "" "MAP3K1(NM_005921.2):c.3560_3562del (p.(Glu1187del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995097" "0" "30" "5" "56111414" "56111416" "dup" "0" "01804" "MAP3K1_000033" "g.56111414_56111416dup" "" "" "" "MAP3K1(NM_005921.1):c.14_16dupCGG (p.(Ala5dup)), MAP3K1(NM_005921.2):c.14_16dupCGG (p.A5dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995098" "0" "50" "5" "56111435" "56111435" "subst" "0" "01804" "MAP3K1_000056" "g.56111435C>T" "" "" "" "MAP3K1(NM_005921.1):c.35C>T (p.(Ser12Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995099" "0" "50" "5" "56111642" "56111642" "subst" "0" "01804" "MAP3K1_000057" "g.56111642C>T" "" "" "" "MAP3K1(NM_005921.1):c.242C>T (p.(Ala81Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995100" "0" "30" "5" "56111747" "56111747" "subst" "0.000139043" "01804" "MAP3K1_000058" "g.56111747C>G" "" "" "" "MAP3K1(NM_005921.1):c.347C>G (p.(Ala116Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995101" "0" "30" "5" "56178269" "56178269" "subst" "4.07734E-5" "01804" "MAP3K1_000059" "g.56178269T>A" "" "" "" "MAP3K1(NM_005921.1):c.3242T>A (p.(Met1081Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995102" "0" "30" "5" "56178299" "56178299" "subst" "8.15328E-6" "01804" "MAP3K1_000060" "g.56178299G>A" "" "" "" "MAP3K1(NM_005921.1):c.3272G>A (p.(Cys1091Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995103" "0" "30" "5" "56181867" "56181867" "subst" "0" "01804" "MAP3K1_000061" "g.56181867A>G" "" "" "" "MAP3K1(NM_005921.1):c.4091A>G (p.(Gln1364Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035247" "0" "30" "5" "56168712" "56168712" "subst" "0.0480815" "01804" "MAP3K1_000008" "g.56168712C>T" "" "" "" "MAP3K1(NM_005921.1):c.1566C>T (p.T522=), MAP3K1(NM_005921.2):c.1566C>T (p.(Thr522=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044743" "0" "90" "5" "56160640" "56160640" "del" "0" "03779" "MAP3K1_000062" "g.56160640del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001044745" "0" "90" "5" "56176915" "56176939" "dup" "0" "03779" "MAP3K1_000063" "g.56176915_56176939dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001051966" "0" "50" "5" "56111455" "56111455" "subst" "0" "01804" "MAP3K1_000064" "g.56111455G>A" "" "" "" "MAP3K1(NM_005921.2):c.55G>A (p.(Ala19Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051967" "0" "30" "5" "56160660" "56160660" "subst" "4.87797E-5" "01804" "MAP3K1_000032" "g.56160660A>T" "" "" "" "MAP3K1(NM_005921.2):c.934A>T (p.(Met312Leu))" "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 MAP3K1 ## Count = 92 "{{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}}" "0000247953" "00011748" "10" "3190" "0" "3190" "0" "c.3190A>C" "r.(?)" "p.(Arg1064=)" "" "0000253214" "00011748" "10" "3190" "0" "3190" "0" "c.3190A>C" "r.(?)" "p.(Arg1064=)" "" "0000253642" "00011748" "10" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Asn255Ser)" "" "0000253659" "00011748" "10" "3084" "0" "3084" "0" "c.3084A>G" "r.(?)" "p.(Gln1028=)" "" "0000253791" "00011748" "10" "3820" "-11" "3820" "-11" "c.3820-11A>G" "r.(=)" "p.(=)" "" "0000282381" "00011748" "10" "2416" "0" "2416" "0" "c.2416G>A" "r.(?)" "p.(Asp806Asn)" "" "0000282382" "00011748" "10" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Val906Ile)" "" "0000282383" "00011748" "10" "2845" "0" "2847" "0" "c.2845_2847del" "r.(?)" "p.(Thr949del)" "" "0000282384" "00011748" "10" "351" "0" "351" "0" "c.351G>C" "r.(?)" "p.(Ala117=)" "" "0000282385" "00011748" "10" "483" "-11" "483" "-11" "c.483-11C>A" "r.(=)" "p.(=)" "" "0000286109" "00011748" "10" "2845" "0" "2847" "0" "c.2845_2847del" "r.(?)" "p.(Thr949del)" "" "0000291444" "00011748" "70" "152" "0" "152" "0" "c.152G>C" "r.(?)" "p.(Gly51Ala)" "" "0000291445" "00011748" "10" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Thr522=)" "" "0000291446" "00011748" "10" "2416" "0" "2416" "0" "c.2416G>A" "r.(?)" "p.(Asp806Asn)" "" "0000291447" "00011748" "30" "241" "0" "241" "0" "c.241G>T" "r.(?)" "p.(Ala81Ser)" "" "0000291448" "00011748" "10" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Val906Ile)" "" "0000291449" "00011748" "10" "2816" "0" "2816" "0" "c.2816C>G" "r.(?)" "p.(Ser939Cys)" "" "0000291450" "00011748" "10" "2845" "0" "2847" "0" "c.2845_2847del" "r.(?)" "p.(Thr949del)" "" "0000291451" "00011748" "50" "3317" "0" "3317" "0" "c.3317T>C" "r.(?)" "p.(Ile1106Thr)" "" "0000291452" "00011748" "10" "351" "0" "351" "0" "c.351G>C" "r.(?)" "p.(Ala117=)" "" "0000291453" "00011748" "10" "3667" "-13" "3667" "-13" "c.3667-13G>A" "r.(=)" "p.(=)" "" "0000291454" "00011748" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Ser)" "" "0000291455" "00011748" "10" "483" "-11" "483" "-11" "c.483-11C>A" "r.(=)" "p.(=)" "" "0000291456" "00011748" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Ala240=)" "" "0000330368" "00011748" "50" "2842" "0" "2847" "0" "c.2842_2847del" "r.(?)" "p.(Thr948_Thr949del)" "" "0000330369" "00011748" "50" "2845" "0" "2847" "0" "c.2845_2847del" "r.(?)" "p.(Thr949del)" "" "0000474761" "00011748" "90" "634" "-8" "634" "-8" "c.634-8T>A" "r.633_634ins634-6_634-1" "p.Val211_Val212insIleGln" "2i" "0000474762" "00011748" "90" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "10" "0000474763" "00011748" "70" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Leu189Pro)" "2" "0000474764" "00011748" "70" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Leu189Arg)" "2" "0000474765" "00011748" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.Pro153Leu" "1" "0000474766" "00011748" "90" "2180" "-2" "2180" "-2" "c.2180-2A>G" "r.[2180_2284del, 2180_2369del]" "p.[Gly727_Ile761del, Ser728Ilefs*8]" "12i" "0000474767" "00011748" "90" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "10" "0000474768" "00011748" "70" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "4" "0000474769" "00011748" "90" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "10" "0000474770" "00011748" "70" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Pro257Leu)" "3" "0000474771" "00011748" "70" "2071" "0" "2071" "0" "c.2071T>C" "r.(?)" "p.(Cys691Arg)" "11" "0000474772" "00011748" "50" "394" "0" "394" "0" "c.394G>C" "r.(?)" "p.(Asp132His)" "1" "0000474773" "00011748" "70" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Ala1443Val)" "19" "0000474774" "00011748" "70" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Ala1443Val)" "19" "0000474775" "00011748" "90" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Leu189Arg)" "2" "0000474776" "00011748" "90" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Leu189Arg)" "2" "0000474777" "00011748" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Gln237Arg)" "3" "0000474778" "00011748" "70" "934" "0" "934" "0" "c.934A>T" "r.(?)" "p.(Met312Leu)" "4" "0000474779" "00011748" "70" "934" "0" "934" "0" "c.934A>T" "r.(?)" "p.(Met312Leu)" "4" "0000474780" "00011748" "70" "934" "0" "934" "0" "c.934A>T" "r.(?)" "p.(Met312Leu)" "4" "0000474781" "00011748" "70" "934" "0" "934" "0" "c.934A>T" "r.(?)" "p.(Met312Leu)" "4" "0000474782" "00011748" "70" "14" "0" "16" "0" "c.14_16dup" "r.(?)" "p.(Ala5dup)" "1" "0000474783" "00011748" "70" "1760" "0" "1760" "0" "c.1760T>A" "r.(?)" "p.(Leu587His)" "10" "0000474784" "00011748" "70" "2291" "0" "2291" "0" "c.2291T>G" "r.(?)" "p.(Leu764Arg)" "13" "0000474785" "00011748" "70" "566" "0" "566" "0" "c.566T>A" "r.(?)" "p.(Leu189Gln)" "2" "0000525838" "00011748" "50" "14" "0" "16" "0" "c.14_16dup" "r.(?)" "p.(Ala5dup)" "" "0000525839" "00011748" "50" "185" "0" "185" "0" "c.185T>G" "r.(?)" "p.(Leu62Arg)" "" "0000525840" "00011748" "30" "216" "0" "216" "0" "c.216G>C" "r.(?)" "p.(Gln72His)" "" "0000525842" "00011748" "30" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Asn255Ser)" "" "0000525843" "00011748" "50" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Arg306His)" "" "0000525844" "00011748" "10" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.(Thr428=)" "" "0000525845" "00011748" "10" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.(Thr428=)" "" "0000525846" "00011748" "10" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.(Thr428=)" "" "0000525847" "00011748" "30" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "" "0000525849" "00011748" "10" "2370" "-28" "2370" "-28" "c.2370-28T>C" "r.(=)" "p.(=)" "" "0000525850" "00011748" "30" "2816" "0" "2816" "0" "c.2816C>G" "r.(?)" "p.(Ser939Cys)" "" "0000525851" "00011748" "30" "2836" "0" "2847" "0" "c.2836_2847del" "r.(?)" "p.(Thr946_Thr949del)" "" "0000525852" "00011748" "30" "2845" "0" "2847" "0" "c.2845_2847dup" "r.(?)" "p.(Thr949dup)" "" "0000525853" "00011748" "50" "3820" "-6" "3820" "-6" "c.3820-6A>T" "r.(=)" "p.(=)" "" "0000525854" "00011748" "50" "4241" "0" "4241" "0" "c.4241C>G" "r.(?)" "p.(Ala1414Gly)" "" "0000578103" "00011748" "00" "4151" "0" "4151" "0" "c.4151dup" "r.(?)" "p.(Arg1385Lysfs*35)" "" "0000621579" "00011748" "50" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Pro253Ser)" "" "0000651742" "00011748" "10" "1566" "0" "1566" "0" "c.1566C>T" "r.(=)" "p.(=)" "" "0000655395" "00011748" "30" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Ala9Thr)" "" "0000669854" "00011748" "10" "1566" "0" "1566" "0" "c.1566C>T" "r.(=)" "p.(=)" "" "0000720463" "00011748" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Pro153Leu)" "" "0000720464" "00011748" "30" "3560" "0" "3560" "0" "c.3560A>C" "r.(?)" "p.(Glu1187Ala)" "" "0000859973" "00011748" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Ala5=)" "" "0000859974" "00011748" "30" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Pro153Gln)" "" "0000859975" "00011748" "30" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Ala1443Val)" "" "0000929091" "00011748" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Ala240=)" "" "0000976812" "00011748" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Pro153Leu)" "" "0000976813" "00011748" "50" "2965" "0" "2967" "0" "c.2965_2967del" "r.(?)" "p.(Ser989del)" "" "0000976814" "00011748" "50" "3560" "0" "3562" "0" "c.3560_3562del" "r.(?)" "p.(Glu1187del)" "" "0000995097" "00011748" "30" "14" "0" "16" "0" "c.14_16dup" "r.(?)" "p.(Ala5dup)" "" "0000995098" "00011748" "50" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ser12Leu)" "" "0000995099" "00011748" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "0000995100" "00011748" "30" "347" "0" "347" "0" "c.347C>G" "r.(?)" "p.(Ala116Gly)" "" "0000995101" "00011748" "30" "3242" "0" "3242" "0" "c.3242T>A" "r.(?)" "p.(Met1081Lys)" "" "0000995102" "00011748" "30" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Cys1091Tyr)" "" "0000995103" "00011748" "30" "4091" "0" "4091" "0" "c.4091A>G" "r.(?)" "p.(Gln1364Arg)" "" "0001035247" "00011748" "30" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Thr522=)" "" "0001044743" "00011748" "90" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Asn305ThrfsTer7)" "" "0001044745" "00011748" "90" "2185" "0" "2209" "0" "c.2185_2209dup" "r.(?)" "p.(Val737AspfsTer7)" "" "0001051966" "00011748" "50" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Ala19Thr)" "" "0001051967" "00011748" "30" "934" "0" "934" "0" "c.934A>T" "r.(?)" "p.(Met312Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000232366" "0000474761" "0000232367" "0000474762" "0000232368" "0000474763" "0000232369" "0000474764" "0000232370" "0000474765" "0000232371" "0000474766" "0000232372" "0000474767" "0000232373" "0000474768" "0000232374" "0000474769" "0000232375" "0000474770" "0000232376" "0000474771" "0000232377" "0000474772" "0000232378" "0000474773" "0000232379" "0000474774" "0000232380" "0000474775" "0000232381" "0000474776" "0000232382" "0000474777" "0000232383" "0000474778" "0000232384" "0000474779" "0000232385" "0000474780" "0000232386" "0000474781" "0000232387" "0000474782" "0000232388" "0000474783" "0000232389" "0000474784" "0000232390" "0000474785" "0000249344" "0000578103" "0000295053" "0000651742" "0000306166" "0000669854"