### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RASGRP2) # 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}}" "RASGRP2" "RAS guanyl releasing protein 2 (calcium and DAG-regulated)" "11" "q13" "unknown" "NC_000011.9" "UD_132118896191" "" "https://www.LOVD.nl/RASGRP2" "" "1" "9879" "10235" "605577" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-15 14:41:25" "00006" "2025-12-15 14:51:06" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00017459" "RASGRP2" "transcript variant 2" "001" "NM_153819.1" "" "NP_722541.1" "" "" "" "-253" "2057" "1830" "64512928" "64494383" "" "0000-00-00 00:00:00" "" "" "00026041" "RASGRP2" "transcript variant 4 (expired, new version available) (expired, new version available)" "005" "NM_001098671.2" "" "NP_001092141.1" "" "" "MANE select" "-227" "2057" "1830" "64511630" "64494383" "00006" "2025-12-15 14:40:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04122" "BDPLT18" "bleeding disorder, platelet type 18 (BDPLT-18)" "AR" "615888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "07215" "BDPLT" "bleeding disorder, platelet type" "" "" "" "" "" "00006" "2025-12-13 08:58:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RASGRP2" "04122" "RASGRP2" "07215" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00104003" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-124A" "00471048" "" "" "" "3" "" "00006" "{PMID:Canault 2014:24958846}" "4-generation family, 3 affected (sister/2 brothers) , unaffected heterozygous carrier parents/relatives" "F;M" "yes" "France" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00104003" "03381" "00471048" "07215" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03381, 04122, 07215 ## Count = 2 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081937" "03381" "00104003" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000355879" "07215" "00471048" "00006" "Familial, autosomal recessive" "" "see paper; ..., 18m-mucocutaneous bleeding, prolonged evere epistaxis, hematomas, bleeding after tooth extraction; female massive menorrhagia, chronic anemia" "" "" "" "" "" "" "" "BDPLT18" "bleeding" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104474" "00104003" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000472717" "00471048" "1" "00006" "00006" "2025-12-15 14:46:21" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 56 "{{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}}" "0000169305" "0" "70" "11" "64502635" "64502635" "subst" "0" "00587" "RASGRP2_000001" "g.64502635A>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_153819.1(RASGRP2):c.1361T>C p.(Ile454Thr)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.64735163A>G" "" "likely pathogenic" "" "0000306772" "0" "30" "11" "64508555" "64508555" "subst" "0" "01943" "RASGRP2_000004" "g.64508555G>A" "" "" "" "RASGRP2(NM_153819.1):c.240-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64741083G>A" "" "likely benign" "" "0000306773" "0" "50" "11" "64507600" "64507600" "subst" "1.62602E-5" "01943" "RASGRP2_000003" "g.64507600C>T" "" "" "" "RASGRP2(NM_153819.1):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64740128C>T" "" "VUS" "" "0000306774" "0" "50" "11" "64504449" "64504449" "subst" "4.10435E-6" "01943" "RASGRP2_000002" "g.64504449G>A" "" "" "" "RASGRP2(NM_153819.1):c.871C>T (p.R291C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64736977G>A" "" "VUS" "" "0000544904" "0" "30" "11" "64497613" "64497613" "subst" "0.00215381" "01804" "RASGRP2_000005" "g.64497613G>C" "" "" "" "RASGRP2(NM_001098670.1):c.1466C>G (p.(Ser489Cys)), RASGRP2(NM_153819.1):c.1466C>G (p.S489C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64730141G>C" "" "likely benign" "" "0000544905" "0" "30" "11" "64497613" "64497613" "subst" "0.00215381" "02326" "RASGRP2_000005" "g.64497613G>C" "" "" "" "RASGRP2(NM_001098670.1):c.1466C>G (p.(Ser489Cys)), RASGRP2(NM_153819.1):c.1466C>G (p.S489C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64730141G>C" "" "likely benign" "" "0000544906" "0" "30" "11" "64504246" "64504246" "subst" "2.3232E-5" "01943" "RASGRP2_000006" "g.64504246G>A" "" "" "" "RASGRP2(NM_153819.1):c.1074C>T (p.P358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64736774G>A" "" "likely benign" "" "0000544907" "0" "50" "11" "64504344" "64504344" "subst" "0" "01943" "RASGRP2_000007" "g.64504344G>C" "" "" "" "RASGRP2(NM_153819.1):c.976C>G (p.R326G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64736872G>C" "" "VUS" "" "0000544908" "0" "10" "11" "64508557" "64508557" "subst" "0.00377331" "01943" "RASGRP2_000008" "g.64508557G>A" "" "" "" "RASGRP2(NM_001098670.1):c.240-6C>T (p.(=)), RASGRP2(NM_153819.1):c.240-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64741085G>A" "" "benign" "" "0000544910" "0" "70" "11" "64517847" "64517847" "subst" "1.6243E-5" "02327" "RASGRP2_000010" "g.64517847C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64750375C>T" "" "likely pathogenic" "" "0000613528" "0" "50" "11" "64494808" "64494808" "subst" "8.12255E-6" "01943" "NRXN2_000015" "g.64494808G>A" "" "" "" "RASGRP2(NM_153819.1):c.1796C>T (p.T599M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64727336G>A" "" "VUS" "" "0000613529" "0" "90" "11" "64497590" "64497590" "del" "0" "01943" "RASGRP2_000011" "g.64497590del" "" "" "" "RASGRP2(NM_153819.1):c.1490delT (p.F497Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64730118del" "" "pathogenic" "" "0000613530" "0" "50" "11" "64508451" "64508451" "subst" "2.84303E-5" "01804" "RASGRP2_000013" "g.64508451G>A" "" "" "" "RASGRP2(NM_001098670.1):c.340C>T (p.(Arg114Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64740979G>A" "" "VUS" "" "0000613531" "0" "30" "11" "64508512" "64508512" "subst" "0.000215381" "01943" "RASGRP2_000014" "g.64508512G>A" "" "" "" "RASGRP2(NM_153819.1):c.279C>T (p.N93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64741040G>A" "" "likely benign" "" "0000613532" "0" "50" "11" "64510322" "64510322" "subst" "0.000277842" "01804" "RASGRP2_000015" "g.64510322T>C" "" "" "" "RASGRP2(NM_001098670.1):c.17A>G (p.(Asp6Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64742850T>C" "" "VUS" "" "0000622668" "0" "50" "11" "64502633" "64502633" "subst" "3.24865E-5" "01943" "RASGRP2_000012" "g.64502633G>A" "" "" "" "RASGRP2(NM_153819.1):c.1363C>T (p.R455C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64735161G>A" "" "VUS" "" "0000656835" "0" "30" "11" "64502708" "64502708" "subst" "1.219E-5" "02326" "RASGRP2_000016" "g.64502708C>T" "" "" "" "RASGRP2(NM_153819.1):c.1297-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64735236C>T" "" "likely benign" "" "0000679252" "0" "30" "11" "64504306" "64504306" "subst" "0" "02326" "RASGRP2_000017" "g.64504306A>G" "" "" "" "RASGRP2(NM_153819.1):c.1014T>C (p.F338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679253" "0" "30" "11" "64504512" "64504512" "subst" "0.0011868" "01804" "RASGRP2_000018" "g.64504512G>A" "" "" "" "RASGRP2(NM_001098670.1):c.814-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679254" "0" "30" "11" "64508413" "64508413" "subst" "0.000414304" "01943" "RASGRP2_000019" "g.64508413C>A" "" "" "" "RASGRP2(NM_153819.1):c.371+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691115" "0" "30" "11" "64507477" "64507477" "subst" "0.0284136" "01804" "RASGRP2_000020" "g.64507477G>A" "" "" "" "RASGRP2(NM_001098670.1):c.522+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691116" "0" "30" "11" "64508955" "64508955" "subst" "0.00015909" "01943" "RASGRP2_000021" "g.64508955C>T" "" "" "" "RASGRP2(NM_001098671.2):c.195G>A (p.(Lys65=)), RASGRP2(NM_153819.1):c.195G>A (p.K65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723553" "0" "50" "11" "64496395" "64496395" "subst" "0" "02325" "RASGRP2_000022" "g.64496395G>C" "" "" "" "RASGRP2(NM_153819.1):c.1711C>G (p.H571D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723554" "0" "30" "11" "64496517" "64496517" "subst" "0.00548538" "01804" "RASGRP2_000023" "g.64496517G>T" "" "" "" "RASGRP2(NM_001098670.1):c.1592-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723555" "0" "30" "11" "64497601" "64497601" "subst" "6.04173E-5" "01804" "RASGRP2_000024" "g.64497601C>G" "" "" "" "RASGRP2(NM_001098670.1):c.1478G>C (p.(Gly493Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723556" "0" "30" "11" "64497613" "64497613" "subst" "0.00215381" "01943" "RASGRP2_000005" "g.64497613G>C" "" "" "" "RASGRP2(NM_001098670.1):c.1466C>G (p.(Ser489Cys)), RASGRP2(NM_153819.1):c.1466C>G (p.S489C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723557" "0" "30" "11" "64507518" "64507518" "subst" "0.000434578" "02326" "RASGRP2_000025" "g.64507518G>A" "" "" "" "RASGRP2(NM_153819.1):c.489C>T (p.T163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723558" "0" "30" "11" "64508936" "64508936" "subst" "0" "01943" "RASGRP2_000026" "g.64508936G>T" "" "" "" "RASGRP2(NM_153819.1):c.214C>A (p.Q72K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723559" "0" "70" "11" "64514748" "64514748" "del" "0" "01943" "PYGM_000017" "g.64514748del" "" "" "" "PYGM(NM_001164716.1):c.1998delA (p.K666Nfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723560" "0" "90" "11" "64514748" "64514748" "del" "0" "02329" "PYGM_000017" "g.64514748del" "" "" "" "PYGM(NM_001164716.1):c.1998delA (p.K666Nfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805247" "0" "50" "11" "64503379" "64503379" "subst" "3.26248E-5" "01943" "RASGRP2_000027" "g.64503379G>T" "" "" "" "RASGRP2(NM_153819.1):c.1169C>A (p.S390Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805248" "0" "50" "11" "64503389" "64503389" "subst" "1.22223E-5" "01804" "RASGRP2_000028" "g.64503389G>A" "" "" "" "RASGRP2(NM_001098670.1):c.1159C>T (p.(Arg387Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805249" "0" "70" "11" "64503391" "64503391" "subst" "0.00016701" "02327" "RASGRP2_000029" "g.64503391G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805250" "0" "50" "11" "64503430" "64503430" "subst" "8.54145E-5" "01943" "RASGRP2_000030" "g.64503430G>A" "" "" "" "RASGRP2(NM_153819.1):c.1118C>T (p.T373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805251" "0" "50" "11" "64504338" "64504338" "subst" "3.675E-5" "01943" "RASGRP2_000031" "g.64504338G>A" "" "" "" "RASGRP2(NM_153819.1):c.982C>T (p.R328W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805252" "0" "50" "11" "64507481" "64507481" "subst" "6.50137E-5" "01804" "RASGRP2_000032" "g.64507481G>A" "" "" "" "RASGRP2(NM_001098670.1):c.522+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805253" "0" "90" "11" "64507626" "64507626" "subst" "0" "01943" "RASGRP2_000033" "g.64507626G>C" "" "" "" "RASGRP2(NM_153819.1):c.381C>G (p.Y127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805254" "0" "50" "11" "64514696" "64514696" "subst" "4.06088E-6" "01943" "PYGM_000123" "g.64514696C>T" "" "" "" "PYGM(NM_001164716.1):c.2048G>A (p.R683Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853075" "0" "30" "11" "64514278" "64514278" "subst" "0.000609083" "02326" "RASGRP2_000034" "g.64514278G>A" "" "" "" "PYGM(NM_005609.4):c.2382C>T (p.N794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890044" "0" "30" "11" "64504329" "64504329" "subst" "0.000335058" "02326" "RASGRP2_000035" "g.64504329C>T" "" "" "" "RASGRP2(NM_153819.1):c.991G>A (p.G331R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890045" "0" "90" "11" "64507626" "64507626" "subst" "0" "02326" "RASGRP2_000033" "g.64507626G>C" "" "" "" "RASGRP2(NM_153819.1):c.381C>G (p.Y127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890046" "0" "30" "11" "64508557" "64508557" "subst" "0.00377331" "02326" "RASGRP2_000008" "g.64508557G>A" "" "" "" "RASGRP2(NM_001098670.1):c.240-6C>T (p.(=)), RASGRP2(NM_153819.1):c.240-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890047" "0" "30" "11" "64509596" "64509596" "subst" "5.79408E-6" "02326" "RASGRP2_000036" "g.64509596G>A" "" "" "" "RASGRP2(NM_153819.1):c.74-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913647" "0" "30" "11" "64503461" "64503461" "subst" "1.62951E-5" "02326" "RASGRP2_000037" "g.64503461C>T" "" "" "" "RASGRP2(NM_153819.1):c.1096-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913648" "0" "10" "11" "64508557" "64508557" "subst" "0.00377331" "01804" "RASGRP2_000008" "g.64508557G>A" "" "" "" "RASGRP2(NM_001098670.1):c.240-6C>T (p.(=)), RASGRP2(NM_153819.1):c.240-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925466" "0" "30" "11" "64506853" "64506853" "subst" "5.68703E-5" "02326" "RASGRP2_000038" "g.64506853G>A" "" "" "" "RASGRP2(NM_153819.1):c.792C>T (p.H264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929940" "0" "30" "11" "64508413" "64508413" "subst" "0.000414304" "02326" "RASGRP2_000019" "g.64508413C>A" "" "" "" "RASGRP2(NM_153819.1):c.371+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999241" "0" "30" "11" "64496440" "64496440" "subst" "0" "01804" "RASGRP2_000039" "g.64496440T>G" "" "" "" "RASGRP2(NM_001098671.1):c.1666A>C (p.(Ser556Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999242" "0" "30" "11" "64497622" "64497622" "subst" "7.37978E-5" "01804" "RASGRP2_000040" "g.64497622C>T" "" "" "" "RASGRP2(NM_001098671.1):c.1457G>A (p.(Arg486His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038589" "0" "50" "11" "64502594" "64502594" "subst" "4.06101E-6" "01804" "RASGRP2_000041" "g.64502594C>T" "" "" "" "RASGRP2(NM_001098671.2):c.1402G>A (p.(Asp468Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038590" "0" "50" "11" "64503397" "64503397" "subst" "1.22118E-5" "01804" "RASGRP2_000042" "g.64503397C>T" "" "" "" "RASGRP2(NM_001098671.2):c.1151G>A (p.(Arg384Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038591" "0" "30" "11" "64507644" "64507644" "dup" "0" "01804" "RASGRP2_000043" "g.64507644dup" "" "" "" "RASGRP2(NM_001098671.2):c.372-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038592" "0" "50" "11" "64508955" "64508955" "subst" "0.00015909" "01804" "RASGRP2_000021" "g.64508955C>T" "" "" "" "RASGRP2(NM_001098671.2):c.195G>A (p.(Lys65=)), RASGRP2(NM_153819.1):c.195G>A (p.K65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053914" "0" "50" "11" "64494835" "64494835" "subst" "0" "01804" "NRXN2_000054" "g.64494835G>C" "" "" "" "RASGRP2(NM_001098671.2):c.1772-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053915" "0" "50" "11" "64514822" "64514822" "subst" "0" "01804" "RASGRP2_000044" "g.64514822G>C" "" "" "" "PYGM(NM_005609.4):c.2186C>G (p.(Ala729Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061421" "3" "90" "11" "64506903" "64506903" "subst" "0" "00006" "RASGRP2_000045" "g.64506903C>A" "" "{PMID:Canault 2014:24958846}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64739431C>A" "" "pathogenic (recessive)" "" ## 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 RASGRP2 ## Count = 57 "{{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}}" "0000169305" "00017459" "00" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Ile454Thr)" "" "0000306772" "00017459" "30" "240" "-4" "240" "-4" "c.240-4C>T" "r.spl?" "p.?" "" "0000306773" "00017459" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "0000306774" "00017459" "50" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291Cys)" "" "0000544904" "00017459" "30" "1466" "0" "1466" "0" "c.1466C>G" "r.(?)" "p.(Ser489Cys)" "" "0000544905" "00017459" "30" "1466" "0" "1466" "0" "c.1466C>G" "r.(?)" "p.(Ser489Cys)" "" "0000544906" "00017459" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Pro358=)" "" "0000544907" "00017459" "50" "976" "0" "976" "0" "c.976C>G" "r.(?)" "p.(Arg326Gly)" "" "0000544908" "00017459" "10" "240" "-6" "240" "-6" "c.240-6C>T" "r.(=)" "p.(=)" "" "0000544910" "00017459" "70" "-5172" "0" "-5172" "0" "c.-5172G>A" "r.(?)" "p.(=)" "" "0000613528" "00017459" "50" "1796" "0" "1796" "0" "c.1796C>T" "r.(?)" "p.(Thr599Met)" "" "0000613529" "00017459" "90" "1490" "0" "1490" "0" "c.1490del" "r.(?)" "p.(Phe497SerfsTer22)" "" "0000613530" "00017459" "50" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Arg114Trp)" "" "0000613531" "00017459" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Asn93=)" "" "0000613532" "00017459" "50" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(Asp6Gly)" "" "0000622668" "00017459" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Cys)" "" "0000656835" "00017459" "30" "1297" "-9" "1297" "-9" "c.1297-9G>A" "r.(=)" "p.(=)" "" "0000679252" "00017459" "30" "1014" "0" "1014" "0" "c.1014T>C" "r.(?)" "p.(Phe338=)" "" "0000679253" "00017459" "30" "814" "-6" "814" "-6" "c.814-6C>T" "r.(=)" "p.(=)" "" "0000679254" "00017459" "30" "371" "7" "371" "7" "c.371+7G>T" "r.(=)" "p.(=)" "" "0000691115" "00017459" "30" "522" "8" "522" "8" "c.522+8C>T" "r.(=)" "p.(=)" "" "0000691116" "00017459" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Lys65=)" "" "0000723553" "00017459" "50" "1711" "0" "1711" "0" "c.1711C>G" "r.(?)" "p.(His571Asp)" "" "0000723554" "00017459" "30" "1592" "-3" "1592" "-3" "c.1592-3C>A" "r.spl?" "p.?" "" "0000723555" "00017459" "30" "1478" "0" "1478" "0" "c.1478G>C" "r.(?)" "p.(Gly493Ala)" "" "0000723556" "00017459" "30" "1466" "0" "1466" "0" "c.1466C>G" "r.(?)" "p.(Ser489Cys)" "" "0000723557" "00017459" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Thr163=)" "" "0000723558" "00017459" "30" "214" "0" "214" "0" "c.214C>A" "r.(?)" "p.(Gln72Lys)" "" "0000723559" "00017459" "70" "-2071" "0" "-2071" "0" "c.-2071del" "r.(?)" "p.(=)" "" "0000723560" "00017459" "90" "-2071" "0" "-2071" "0" "c.-2071del" "r.(?)" "p.(=)" "" "0000805247" "00017459" "50" "1169" "0" "1169" "0" "c.1169C>A" "r.(?)" "p.(Ser390Tyr)" "" "0000805248" "00017459" "50" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Cys)" "" "0000805249" "00017459" "70" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Pro386Leu)" "" "0000805250" "00017459" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Met)" "" "0000805251" "00017459" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Trp)" "" "0000805252" "00017459" "50" "522" "4" "522" "4" "c.522+4C>T" "r.spl?" "p.?" "" "0000805253" "00017459" "90" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Tyr127*)" "" "0000805254" "00017459" "50" "-2021" "0" "-2021" "0" "c.-2021G>A" "r.(?)" "p.(=)" "" "0000853075" "00017459" "30" "-1603" "0" "-1603" "0" "c.-1603C>T" "r.(?)" "p.(=)" "" "0000890044" "00017459" "30" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Gly331Arg)" "" "0000890045" "00017459" "90" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Tyr127*)" "" "0000890046" "00017459" "30" "240" "-6" "240" "-6" "c.240-6C>T" "r.(=)" "p.(=)" "" "0000890047" "00017459" "30" "74" "-12" "74" "-12" "c.74-12C>T" "r.(=)" "p.(=)" "" "0000913647" "00017459" "30" "1096" "-9" "1096" "-9" "c.1096-9G>A" "r.(=)" "p.(=)" "" "0000913648" "00017459" "10" "240" "-6" "240" "-6" "c.240-6C>T" "r.(=)" "p.(=)" "" "0000925466" "00017459" "30" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(His264=)" "" "0000929940" "00017459" "30" "371" "7" "371" "7" "c.371+7G>T" "r.(=)" "p.(=)" "" "0000999241" "00017459" "30" "1666" "0" "1666" "0" "c.1666A>C" "r.(?)" "p.(Ser556Arg)" "" "0000999242" "00017459" "30" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486His)" "" "0001038589" "00017459" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Asp468Asn)" "" "0001038590" "00017459" "50" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Gln)" "" "0001038591" "00017459" "30" "372" "-3" "372" "-3" "c.372-3dup" "r.spl?" "p.?" "" "0001038592" "00017459" "50" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Lys65=)" "" "0001053914" "00017459" "50" "1772" "-3" "1772" "-3" "c.1772-3C>G" "r.spl?" "p.?" "" "0001053915" "00017459" "50" "-2147" "0" "-2147" "0" "c.-2147C>G" "r.(?)" "p.(=)" "" "0001061421" "00017459" "90" "742" "0" "742" "0" "c.742G>T" "r.(?)" "p.(Gly248Trp)" "" "0001061421" "00026041" "90" "742" "0" "742" "0" "c.742G>T" "r.(?)" "p.(Gly248Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000104474" "0000169305" "0000472717" "0001061421"