### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NRAS) # 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}}" "NRAS" "neuroblastoma RAS viral (v-ras) oncogene homolog" "1" "p13.2" "no" "LRG_92" "UD_132118627251" "" "http://www.LOVD.nl/NRAS" "NRASbase: Mutation registry for autoimmune lymphoproliferative syndrome type IV " "1" "7989" "4893" "164790" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/NRAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-27 16:43:34" "00000" "2025-09-19 10:45:02" ## 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}}" "00014798" "NRAS" "neuroblastoma RAS viral (v-ras) oncogene homolog" "001" "NM_002524.4" "" "NP_002515.1" "" "" "" "-254" "4200" "570" "115259515" "115247085" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "00554" "NMTC2" "cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular)" "AD;SMu" "188470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00555" "RALD;ALPS4" "RAS-associated autoimmune leukoproliferative disorder (RALD, utoimmune lymphoproliferative syndrome type IV (ALPS-4))" "AD" "614470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00556" "NS6" "Noonan syndrome, type 6 (NS-6)" "AD" "613224" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00600" "-" "nevus, epidermal" "" "162900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "00684" "SFM" "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" "" "163200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01343" "CMNS" "nevus syndrome, melanocytic, congenital, somatic" "" "137550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01912" "NCMS" "melanosis, neurocutaneous (NCMS)" "" "249400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "01950" "-" "myeloma, multiple" "SMu" "254500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03132" "APL" "leukemia, acute, promyelocytic" "" "612376" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04231" "-" "leukemia, acute, lymphoblastic, T-cell" "" "" "" "" "" "00006" "2015-03-27 17:14:45" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{geneid}}" "{{diseaseid}}" "NRAS" "00091" "NRAS" "00139" "NRAS" "00383" "NRAS" "00554" "NRAS" "00555" "NRAS" "00556" "NRAS" "00600" "NRAS" "00684" "NRAS" "01343" "NRAS" "01912" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00034559" "" "" "" "1" "" "01268" "" "" "" "" "" "" "0" "" "" "" "" "00034560" "" "" "" "1" "" "01268" "" "B lymphocyte derived from bone marrow removed from patient with multiple myeloma" "M" "" "" "" "0" "" "" "" "" "00034561" "" "" "" "1" "" "01268" "" "" "F" "" "" "" "0" "" "" "European, white" "" "00080857" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00100620" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "?" "Germany" "" "0" "" "" "" "NRAS 1" "00100623" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 2" "00100624" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 3-1" "00100625" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 3-2" "00100626" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 3-3" "00100627" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 4-1" "00100628" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 4-2" "00100629" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 5-1" "00100630" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 5-2" "00100631" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 6" "00100632" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 7" "00100633" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 8" "00100634" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 9" "00100635" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 10-1" "00100636" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 10-2" "00100637" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 11" "00100638" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "F" "" "Germany" "" "0" "" "" "" "NRAS 12" "00100639" "" "" "" "1" "" "01925" "Altmüller et al, submitted" "" "M" "" "Germany" "" "0" "" "" "" "NRAS 13" "00296865" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00433051" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Ecuador" "" "0" "" "" "" "Pat19,1" "00466180" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00034559" "04231" "00034560" "01950" "00034561" "03132" "00080857" "00555" "00100620" "00556" "00100623" "00556" "00100624" "00556" "00100625" "00556" "00100626" "00556" "00100627" "00556" "00100628" "00556" "00100629" "00556" "00100630" "00556" "00100631" "00556" "00100632" "00556" "00100633" "00556" "00100634" "00556" "00100635" "00556" "00100636" "00556" "00100637" "00556" "00100638" "00556" "00100639" "00556" "00296865" "00198" "00433051" "05292" "00466180" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00139, 00198, 00383, 00554, 00555, 00556, 00600, 00684, 01343, 01912, 01950, 03132, 04231, 05292 ## 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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000027957" "04231" "00034559" "01268" "-" "" "acute T-cell lymphoblastic leukaemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027958" "01950" "00034560" "01268" "-" "" "multiple myeloma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027959" "03132" "00034561" "01268" "-" "" "promyelocytic leukaemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060426" "00555" "00080857" "01758" "Isolated (sporadic)" "" "autoimmune lymphoproliferative syndrome type IV, somatic (OMIM:614470)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078849" "00556" "00100620" "01925" "Isolated (sporadic)" "" "..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078852" "00556" "00100623" "01925" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078853" "00556" "00100624" "01925" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078855" "00556" "00100625" "01925" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078856" "00556" "00100626" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078857" "00556" "00100627" "01925" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078858" "00556" "00100628" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078859" "00556" "00100629" "01925" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078860" "00556" "00100630" "01925" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078861" "00556" "00100631" "01925" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078862" "00556" "00100632" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078863" "00556" "00100633" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078864" "00556" "00100634" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078865" "00556" "00100634" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078866" "00556" "00100635" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078867" "00556" "00100636" "01925" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078868" "00556" "00100637" "01925" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078869" "00556" "00100638" "01925" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078870" "00556" "00100639" "01925" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224262" "00198" "00296865" "01164" "Unknown" "" "Mitral regurgitation (HP:0001653); Normal pressure hydrocephalus (HP:0002343); Hyperventilation (HP:0002883)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323577" "05292" "00433051" "00006" "Familial, X-linked" "12y" "autoimmune disease" "" "" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000351567" "00198" "00466180" "03820" "Unknown" "" "Clinodactyly, Triphalangeal thumb, ptosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034630" "00034559" "1" "01268" "00006" "2012-07-19 14:53:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000034631" "00034560" "1" "01268" "00006" "2012-07-19 14:47:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000034632" "00034561" "1" "01268" "00006" "2012-07-19 14:44:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000080969" "00080857" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101036" "00100620" "1" "01925" "01925" "2017-03-06 15:47:34" "" "" "SEQ" "DNA" "" "" "0000101039" "00100623" "1" "01925" "01925" "2017-03-07 08:44:38" "" "" "SEQ" "DNA" "CVS" "" "0000101040" "00100624" "1" "01925" "01925" "2017-03-07 08:51:06" "" "" "SEQ" "DNA" "" "" "0000101041" "00100625" "1" "01925" "01925" "2017-03-07 09:10:49" "" "" "SEQ" "DNA" "" "" "0000101042" "00100626" "1" "01925" "01925" "2017-03-07 09:18:28" "" "" "SEQ" "DNA" "" "" "0000101043" "00100627" "1" "01925" "01925" "2017-03-07 09:23:22" "" "" "SEQ" "DNA" "" "" "0000101044" "00100628" "1" "01925" "01925" "2017-03-07 09:30:36" "" "" "SEQ" "DNA" "" "" "0000101045" "00100629" "1" "01925" "01925" "2017-03-07 09:39:30" "" "" "SEQ" "DNA" "" "" "0000101046" "00100630" "1" "01925" "01925" "2017-03-07 10:36:34" "" "" "SEQ" "DNA" "" "" "0000101047" "00100631" "1" "01925" "01925" "2017-03-07 11:11:29" "" "" "SEQ" "DNA" "" "" "0000101048" "00100632" "1" "01925" "01925" "2017-03-07 11:14:21" "" "" "SEQ" "DNA" "" "" "0000101050" "00100633" "1" "01925" "01925" "2017-03-07 11:22:19" "" "" "SEQ" "DNA" "" "" "0000101051" "00100634" "1" "01925" "01925" "2017-03-07 11:25:49" "" "" "SEQ" "DNA" "" "" "0000101052" "00100635" "1" "01925" "01925" "2017-03-07 11:31:35" "" "" "SEQ-NG" "DNA" "" "" "0000101053" "00100636" "1" "01925" "01925" "2017-03-07 11:34:03" "" "" "SEQ-NG" "DNA" "" "" "0000101054" "00100637" "1" "01925" "01925" "2017-03-07 11:36:06" "" "" "SEQ-NG" "DNA" "" "" "0000101055" "00100638" "1" "01925" "01925" "2017-03-07 11:38:40" "" "" "SEQ-NG" "DNA" "" "" "0000101056" "00100639" "1" "01925" "01925" "2017-03-07 11:41:20" "" "" "SEQ" "DNA" "" "" "0000297975" "00296865" "1" "01164" "01164" "2020-04-14 14:27:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000434482" "00433051" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000467838" "00466180" "1" "03820" "03820" "2025-08-06 15:23:44" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000034630" "NRAS" "0000034631" "NRAS" "0000034632" "NRAS" "0000080969" "NRAS" "0000101036" "NRAS" "0000101039" "NRAS" "0000101040" "NRAS" "0000101041" "NRAS" "0000101042" "NRAS" "0000101043" "NRAS" "0000101044" "NRAS" "0000101045" "NRAS" "0000101046" "NRAS" "0000101047" "NRAS" "0000101048" "NRAS" "0000101050" "NRAS" "0000101051" "NRAS" "0000101052" "NRAS" "0000101053" "NRAS" "0000101054" "NRAS" "0000101055" "NRAS" "0000101056" "NRAS" ## 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}}" "0000061747" "0" "50" "1" "115258748" "115258748" "subst" "0" "01268" "NRAS_000003" "g.115258748C>A" "" "" "" "" "" "Somatic" "-" "" "0" "" "" "g.114716127C>A" "" "VUS" "" "0000061748" "0" "50" "1" "115256530" "115256530" "subst" "0" "01268" "NRAS_000002" "g.115256530G>T" "" "" "" "" "" "Somatic" "-" "" "0" "" "" "g.114713909G>T" "" "VUS" "" "0000061749" "0" "50" "1" "115256529" "115256529" "subst" "0" "01268" "NRAS_000001" "g.115256529T>A" "" "" "" "" "" "Somatic" "-" "" "0" "" "" "g.114713908T>A" "" "VUS" "" "0000130055" "0" "70" "1" "115258747" "115258747" "subst" "0" "01758" "NRAS_000004" "g.115258747C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.114716126C>T" "" "likely pathogenic" "ACMG" "0000163483" "0" "70" "1" "115258748" "115258748" "subst" "0" "01925" "NRAS_000005" "g.115258748C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.114716127C>T" "" "likely pathogenic" "" "0000163489" "0" "70" "1" "115258747" "115258747" "subst" "0" "01925" "NRAS_000006" "g.115258747C>A" "" "Altmüller et al, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.114716126C>A" "" "likely pathogenic" "" "0000163490" "0" "70" "1" "115258711" "115258711" "subst" "0" "01925" "NRAS_000007" "g.115258711A>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114716090A>T" "" "likely pathogenic" "" "0000163491" "0" "70" "1" "115258711" "115258711" "subst" "0" "01925" "NRAS_000007" "g.115258711A>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114716090A>T" "" "likely pathogenic" "" "0000163492" "0" "70" "1" "115258711" "115258711" "subst" "0" "01925" "NRAS_000007" "g.115258711A>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114716090A>T" "" "likely pathogenic" "" "0000163493" "0" "70" "1" "115256562" "115256562" "subst" "0" "01925" "NRAS_000012" "g.115256562G>A" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114713941G>A" "" "likely pathogenic" "" "0000163494" "0" "70" "1" "115256562" "115256562" "subst" "0" "01925" "NRAS_000012" "g.115256562G>A" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114713941G>A" "" "likely pathogenic" "" "0000163495" "0" "70" "1" "115256532" "115256532" "subst" "0" "01925" "NRAS_000010" "g.115256532C>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114713911C>T" "" "likely pathogenic" "" "0000163496" "0" "70" "1" "115256532" "115256532" "subst" "0" "01925" "NRAS_000010" "g.115256532C>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114713911C>T" "" "likely pathogenic" "" "0000163497" "0" "70" "1" "115256532" "115256532" "subst" "0" "01925" "NRAS_000010" "g.115256532C>T" "" "Altmüller et al, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.114713911C>T" "" "likely pathogenic" "" "0000163498" "0" "70" "1" "115256599" "115256601" "dup" "0" "01925" "NRAS_000009" "g.115256599_115256601dup" "" "Altmüller et al, submitted" "" "112-1_113dupGGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.114713978_114713980dup" "" "likely pathogenic" "" "0000163500" "0" "70" "1" "115256538" "115256538" "subst" "0" "01925" "NRAS_000011" "g.115256538G>A" "" "Altmüller et al, submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.114713917G>A" "" "likely pathogenic" "" "0000163501" "0" "70" "1" "115256562" "115256562" "subst" "0" "01925" "NRAS_000012" "g.115256562G>A" "" "Altmüller et al, submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.114713941G>A" "" "likely pathogenic" "" "0000163502" "0" "70" "1" "115256532" "115256532" "subst" "0" "01925" "NRAS_000010" "g.115256532C>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114713911C>T" "" "likely pathogenic" "" "0000163503" "0" "70" "1" "115256532" "115256532" "subst" "0" "01925" "NRAS_000010" "g.115256532C>T" "" "Altmüller et al, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.114713911C>T" "" "likely pathogenic" "" "0000163504" "0" "70" "1" "115256562" "115256562" "subst" "0" "01925" "NRAS_000012" "g.115256562G>A" "" "Altmüller et al, submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.114713941G>A" "" "likely pathogenic" "" "0000163505" "0" "70" "1" "115258748" "115258748" "subst" "0" "01925" "NRAS_000008" "g.115258748C>G" "" "Altmüller et al, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.114716127C>G" "" "likely pathogenic" "" "0000163506" "0" "70" "1" "115258747" "115258747" "subst" "0" "01925" "NRAS_000004" "g.115258747C>T" "" "Altmüller et al, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.114716126C>T" "" "likely pathogenic" "" "0000254418" "0" "30" "1" "115258746" "115258746" "subst" "8.93321E-5" "01943" "NRAS_000018" "g.115258746A>C" "" "" "" "NRAS(NM_002524.3):c.36T>G (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114716125A>C" "" "likely benign" "" "0000300431" "0" "30" "1" "115250755" "115250755" "subst" "0" "02326" "NRAS_000013" "g.115250755C>T" "" "" "" "NRAS(NM_002524.3):c.*43+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114708134C>T" "" "likely benign" "" "0000300432" "0" "30" "1" "115252280" "115252280" "subst" "0.000308609" "02326" "NRAS_000015" "g.115252280C>T" "" "" "" "NRAS(NM_002524.3):c.360G>A (p.L120=), NRAS(NM_002524.5):c.360G>A (p.L120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114709659C>T" "" "likely benign" "" "0000300433" "0" "30" "1" "115252178" "115252178" "subst" "1.2183E-5" "02326" "NRAS_000014" "g.115252178G>A" "" "" "" "NRAS(NM_002524.3):c.450+12C>T, NRAS(NM_002524.5):c.450+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114709557G>A" "" "likely benign" "" "0000304536" "0" "30" "1" "115256607" "115256607" "subst" "0.000248299" "01943" "NRAS_000017" "g.115256607T>C" "" "" "" "NRAS(NM_002524.3):c.112-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114713986T>C" "" "likely benign" "" "0000304537" "0" "30" "1" "115252280" "115252280" "subst" "0.000308609" "01943" "NRAS_000015" "g.115252280C>T" "" "" "" "NRAS(NM_002524.3):c.360G>A (p.L120=), NRAS(NM_002524.5):c.360G>A (p.L120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114709659C>T" "" "likely benign" "" "0000340606" "0" "30" "1" "115252256" "115252256" "subst" "2.03028E-5" "02327" "NRAS_000019" "g.115252256T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114709635T>C" "" "likely benign" "" "0000343837" "0" "30" "1" "115256457" "115256457" "subst" "4.06081E-6" "02327" "NRAS_000020" "g.115256457T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114713836T>C" "" "likely benign" "" "0000345689" "0" "90" "1" "115258747" "115258747" "subst" "0" "02327" "NRAS_000006" "g.115258747C>A" "" "" "" "NRAS(NM_002524.4):c.35G>T (p.(Gly12Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114716126C>A" "" "pathogenic" "" "0000346651" "0" "90" "1" "115258711" "115258711" "subst" "0" "02327" "NRAS_000007" "g.115258711A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114716090A>T" "" "pathogenic" "" "0000502579" "0" "90" "1" "115256529" "115256529" "subst" "0" "02327" "CSDE1_000004" "g.115256529T>C" "" "" "" "NRAS(NM_002524.3):c.182A>G (p.Q61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114713908T>C" "" "pathogenic" "" "0000502580" "0" "90" "1" "115256530" "115256530" "subst" "0" "02330" "NRAS_000002" "g.115256530G>T" "" "" "" "NRAS(NM_002524.5):c.181C>A (p.Q61K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114713909G>T" "" "pathogenic" "" "0000502581" "0" "90" "1" "115258747" "115258747" "subst" "0" "02325" "CSDE1_000005" "g.115258747C>G" "" "" "" "NRAS(NM_002524.5):c.35G>C (p.G12A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114716126C>G" "" "pathogenic" "" "0000604675" "0" "90" "1" "115256562" "115256562" "subst" "0" "02327" "NRAS_000012" "g.115256562G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114713941G>A" "" "pathogenic" "" "0000604676" "0" "70" "1" "115258748" "115258748" "subst" "0" "02327" "NRAS_000005" "g.115258748C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114716127C>T" "" "likely pathogenic" "" "0000620356" "0" "30" "1" "115252364" "115252364" "subst" "8.12407E-6" "02330" "NRAS_000021" "g.115252364A>G" "" "" "" "NRAS(NM_002524.5):c.291-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114709743A>G" "" "likely benign" "" "0000660684" "0" "70" "1" "115258711" "115258711" "subst" "0" "01164" "NRAS_000007" "g.115258711A>T" "" "" "" "" "ACMG class 4 (PS2, PM2, PM5, PP3); Runtuwene et al. 2011. DisModelMech 4: 393" "Germline" "" "rs869025573" "0" "" "" "g.114716090A>T" "" "likely pathogenic" "ACMG" "0000675411" "0" "30" "1" "115252170" "115252170" "subst" "0" "02326" "NRAS_000022" "g.115252170T>C" "" "" "" "NRAS(NM_002524.3):c.450+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687821" "0" "30" "1" "115252178" "115252178" "subst" "1.2183E-5" "02330" "NRAS_000014" "g.115252178G>A" "" "" "" "NRAS(NM_002524.3):c.450+12C>T, NRAS(NM_002524.5):c.450+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798686" "0" "50" "1" "115252305" "115252305" "subst" "0" "02327" "NRAS_000023" "g.115252305A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798687" "0" "30" "1" "115262367" "115262367" "subst" "0" "02325" "CSDE1_000010" "g.115262367A>G" "" "" "" "CSDE1(NM_001130523.3):c.2098-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848240" "0" "90" "1" "115256529" "115256529" "subst" "0" "01943" "CSDE1_000004" "g.115256529T>C" "" "" "" "NRAS(NM_002524.3):c.182A>G (p.Q61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856891" "0" "90" "1" "115258747" "115258747" "subst" "0" "01804" "NRAS_000006" "g.115258747C>A" "" "" "" "NRAS(NM_002524.4):c.35G>T (p.(Gly12Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910747" "0" "30" "1" "115252280" "115252280" "subst" "0.000308609" "02330" "NRAS_000015" "g.115252280C>T" "" "" "" "NRAS(NM_002524.3):c.360G>A (p.L120=), NRAS(NM_002524.5):c.360G>A (p.L120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920335" "0" "50" "1" "115252261" "115252261" "subst" "0" "00006" "NRAS_000024" "g.115252261T>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "relevant variant (outside hot spot region), not consistent with phenotype" "Germline" "" "" "0" "" "" "g.114709640T>C" "" "VUS" "ACMG" "0000946937" "0" "30" "1" "115251173" "115251173" "subst" "6.90417E-5" "02326" "NRAS_000025" "g.115251173G>A" "" "" "" "NRAS(NM_002524.3):c.553C>T (p.P185S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990129" "0" "30" "1" "115251212" "115251212" "subst" "0" "01804" "NRAS_000026" "g.115251212T>C" "" "" "" "NRAS(NM_002524.4):c.514A>G (p.(Asn172Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990130" "0" "50" "1" "115251247" "115251247" "subst" "0" "02327" "NRAS_000027" "g.115251247A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013196" "0" "30" "1" "115260842" "115260842" "subst" "0.00169861" "02325" "CSDE1_000016" "g.115260842G>T" "" "" "" "CSDE1(NM_001130523.3):c.2395-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027937" "0" "90" "1" "115258747" "115258747" "subst" "0" "03779" "NRAS_000006" "g.115258747C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs121913237" "0" "" "" "" "" "pathogenic" "" "0001031081" "0" "30" "1" "115256486" "115256486" "subst" "0.000296435" "01804" "CSDE1_000018" "g.115256486G>A" "" "" "" "NRAS(NM_002524.5):c.225C>T (p.(Gly75=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031082" "0" "30" "1" "115262376" "115262376" "dup" "0" "01804" "CSDE1_000019" "g.115262376dup" "" "" "" "CSDE1(NM_001007553.3):c.2053-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047179" "0" "50" "1" "115252203" "115252203" "subst" "0" "03820" "NRAS_000028" "g.115252203G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.114709582G>A" "" "VUS" "ACMG" "0001048127" "0" "90" "1" "115258745" "115258745" "subst" "0" "03779" "NRAS_000029" "g.115258745C>G" "" "" "" "" "" "Unknown" "" "rs121434595" "0" "" "" "" "" "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 NRAS ## Count = 56 "{{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}}" "0000061747" "00014798" "50" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12Cys)" "2" "0000061748" "00014798" "50" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Gln61Lys)" "3" "0000061749" "00014798" "50" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Gln61Leu)" "3" "0000130055" "00014798" "70" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Asp)" "" "0000163483" "00014798" "70" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "2" "0000163489" "00014798" "70" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "2" "0000163490" "00014798" "70" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Ile24Asn)" "2" "0000163491" "00014798" "70" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Ile24Asn)" "2" "0000163492" "00014798" "70" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Ile24Asn)" "2" "0000163493" "00014798" "70" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "3" "0000163494" "00014798" "70" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "3" "0000163495" "00014798" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Glu)" "3" "0000163496" "00014798" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Glu)" "3" "0000163497" "00014798" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Glu)" "3" "0000163498" "00014798" "70" "112" "-1" "113" "0" "c.112-1_113dup" "r.spl" "p.(Glu37dup)" "2i_3" "0000163500" "00014798" "70" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Ile)" "3" "0000163501" "00014798" "70" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "3" "0000163502" "00014798" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Glu)" "3" "0000163503" "00014798" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Glu)" "3" "0000163504" "00014798" "70" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "3" "0000163505" "00014798" "70" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "2" "0000163506" "00014798" "70" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Asp)" "2" "0000254418" "00014798" "30" "36" "0" "36" "0" "c.36T>G" "r.(?)" "p.(Gly12=)" "" "0000300431" "00014798" "30" "613" "20" "613" "20" "c.*43+20G>A" "r.(=)" "p.(=)" "" "0000300432" "00014798" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Leu120=)" "" "0000300433" "00014798" "30" "450" "12" "450" "12" "c.450+12C>T" "r.(=)" "p.(=)" "" "0000304536" "00014798" "30" "112" "-8" "112" "-8" "c.112-8A>G" "r.(=)" "p.(=)" "" "0000304537" "00014798" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Leu120=)" "" "0000340606" "00014798" "30" "384" "0" "384" "0" "c.384A>G" "r.(?)" "p.(Lys128=)" "" "0000343837" "00014798" "30" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Asn85Ser)" "" "0000345689" "00014798" "90" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "" "0000346651" "00014798" "90" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Ile24Asn)" "" "0000502579" "00014798" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Gln61Arg)" "" "0000502580" "00014798" "90" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Gln61Lys)" "" "0000502581" "00014798" "90" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Gly12Ala)" "" "0000604675" "00014798" "90" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "" "0000604676" "00014798" "70" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000620356" "00014798" "30" "291" "-15" "291" "-15" "c.291-15T>C" "r.(=)" "p.(=)" "" "0000660684" "00014798" "70" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Ile24Asn)" "" "0000675411" "00014798" "30" "450" "20" "450" "20" "c.450+20A>G" "r.(=)" "p.(=)" "" "0000687821" "00014798" "30" "450" "12" "450" "12" "c.450+12C>T" "r.(=)" "p.(=)" "" "0000798686" "00014798" "50" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Val112Ala)" "" "0000798687" "00014798" "30" "-3106" "0" "-3106" "0" "c.-3106T>C" "r.(?)" "p.(=)" "" "0000848240" "00014798" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Gln61Arg)" "" "0000856891" "00014798" "90" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "" "0000910747" "00014798" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Leu120=)" "" "0000920335" "00014798" "50" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Thr127Ala)" "4" "0000946937" "00014798" "30" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Pro185Ser)" "" "0000990129" "00014798" "30" "514" "0" "514" "0" "c.514A>G" "r.(?)" "p.(Asn172Asp)" "" "0000990130" "00014798" "50" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Val160Ala)" "" "0001013196" "00014798" "30" "-1581" "0" "-1581" "0" "c.-1581C>A" "r.(?)" "p.(=)" "" "0001027937" "00014798" "90" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "" "0001031081" "00014798" "30" "225" "0" "225" "0" "c.225C>T" "r.(?)" "p.(=)" "" "0001031082" "00014798" "30" "-3106" "0" "-3106" "0" "c.-3106dup" "r.(?)" "p.(=)" "" "0001047179" "00014798" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ala146Val)" "" "0001048127" "00014798" "90" "37" "0" "37" "0" "c.37G>C" "r.(?)" "p.(Gly13Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000034630" "0000061747" "0000034631" "0000061748" "0000034632" "0000061749" "0000080969" "0000130055" "0000101036" "0000163483" "0000101039" "0000163489" "0000101040" "0000163490" "0000101041" "0000163491" "0000101042" "0000163492" "0000101043" "0000163493" "0000101044" "0000163494" "0000101045" "0000163495" "0000101046" "0000163496" "0000101047" "0000163497" "0000101048" "0000163498" "0000101050" "0000163500" "0000101051" "0000163501" "0000101052" "0000163502" "0000101053" "0000163503" "0000101054" "0000163504" "0000101055" "0000163505" "0000101056" "0000163506" "0000297975" "0000660684" "0000434482" "0000920335" "0000467838" "0001047179"