### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RRAS2) # 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}}" "RRAS2" "related RAS viral (r-ras) oncogene homolog 2" "11" "p15.2" "unknown" "NG_017058.1" "UD_132085436082" "" "https://www.LOVD.nl/RRAS2" "" "1" "17271" "22800" "600098" "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/RRAS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-11 19:27:11" "00000" "2025-05-05 21:14:00" ## 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}}" "00018232" "RRAS2" "transcript variant 1" "002" "NM_012250.5" "" "NP_036382.2" "" "" "" "-314" "2032" "615" "14380730" "14299466" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "06150" "NS12" "Noonan syndrome 12" "AD" "618624" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RRAS2" "06150" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00240195" "" "" "" "1" "" "00006" "{PMID:Capri 2019:31130282}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat1" "00240196" "" "" "" "1" "" "00006" "{PMID:Capri 2019:31130282}" "" "M" "" "Sri Lanka" "" "0" "" "" "" "Pat2" "00240197" "" "" "" "5" "" "00006" "{PMID:Capri 2019:31130282}" "3-generation family, 5 affected (3F, 2M)" "F;M" "" "Germany" "" "0" "" "" "" "Fam3" "00240198" "" "" "" "1" "" "00006" "{PMID:Capri 2019:31130282}" "" "M" "" "India" "" "0" "" "" "" "Pat4" "00240199" "" "" "" "1" "" "00006" "{PMID:Capri 2019:31130282}" "" "F" "" "Serbia" "" "0" "" "" "" "Pat5" "00240200" "" "" "" "1" "" "00006" "{PMID:Capri 2019:31130282}" "" "M" "" "" "" "0" "" "" "America-S;Jewish-Ashkenazi" "Pat6" "00240201" "" "" "" "1" "" "00006" "{PMID:Niihori 2019:31130285}" "" "F" "" "Japan" "" "0" "" "" "" "PatNS462" "00240202" "" "" "" "1" "" "00006" "{PMID:Niihori 2019:31130285}" "" "F" "" "Japan" "" "0" "" "" "" "PatNS833" "00240203" "" "" "" "1" "" "00006" "{PMID:Niihori 2019:31130285}" "" "M" "" "Japan" "" "0" "" "" "" "PatHu1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00240195" "00383" "00240196" "00383" "00240197" "00383" "00240198" "00383" "00240199" "00383" "00240200" "00383" "00240201" "00383" "00240202" "00383" "00240203" "00383" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00383, 06150 ## Count = 9 "{{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}}" "0000180346" "00383" "00240195" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180347" "00383" "00240196" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180348" "00383" "00240197" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180349" "00383" "00240198" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180350" "00383" "00240199" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180351" "00383" "00240200" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180352" "00383" "00240201" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180353" "00383" "00240202" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" "0000180354" "00383" "00240203" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "Noonan syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241298" "00240195" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241299" "00240196" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241300" "00240197" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241301" "00240198" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241302" "00240199" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241303" "00240200" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241304" "00240201" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241305" "00240202" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241306" "00240203" "1" "00006" "00006" "2019-06-11 19:47:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000241298" "RRAS2" "0000241299" "RRAS2" "0000241300" "RRAS2" "0000241301" "RRAS2" "0000241302" "RRAS2" "0000241303" "RRAS2" "0000241304" "RRAS2" "0000241305" "RRAS2" "0000241306" "RRAS2" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 20 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000301508" "0" "30" "11" "14316140" "14316140" "del" "0" "02326" "RRAS2_000001" "g.14316140del" "" "" "" "RRAS2(NM_001177314.1):c.195-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14294594del" "" "likely benign" "" "0000301509" "0" "30" "11" "14316140" "14316140" "dup" "0" "02326" "RRAS2_000002" "g.14316140dup" "" "" "" "RRAS2(NM_001177314.1):c.195-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14294594dup" "" "likely benign" "" "0000487161" "0" "90" "11" "14380349" "14380357" "dup" "0" "00006" "RRAS2_000003" "g.14380349_14380357dup" "" "{PMID:Capri 2019:31130282}" "" "" "" "De novo" "" "" "0" "" "" "g.14358803_14358811dup" "" "pathogenic (dominant)" "" "0000487162" "0" "90" "11" "14380349" "14380349" "subst" "0" "00006" "RRAS2_000004" "g.14380349C>A" "" "{PMID:Capri 2019:31130282}" "" "" "" "De novo" "" "" "0" "" "" "g.14358803C>A" "" "pathogenic (dominant)" "" "0000487163" "11" "90" "11" "14316397" "14316397" "subst" "8.13286E-6" "00006" "RRAS2_000005" "g.14316397C>T" "" "{PMID:Capri 2019:31130282}" "" "" "" "Germline" "" "" "0" "" "" "g.14294851C>T" "" "pathogenic (dominant)" "" "0000487164" "0" "90" "11" "14316390" "14316390" "subst" "0" "00006" "RRAS2_000006" "g.14316390T>A" "" "{PMID:Capri 2019:31130282}" "" "" "" "De novo" "" "" "0" "" "" "g.14294844T>A" "" "pathogenic (dominant)" "" "0000487165" "0" "90" "11" "14316397" "14316397" "subst" "8.13286E-6" "00006" "RRAS2_000005" "g.14316397C>T" "" "{PMID:Capri 2019:31130282}" "" "" "" "De novo" "" "" "0" "" "" "g.14294851C>T" "" "pathogenic (dominant)" "" "0000487166" "0" "90" "11" "14380343" "14380351" "dup" "0" "00006" "RRAS2_000007" "g.14380343_14380351dup" "" "{PMID:Capri 2019:31130282}" "" "" "" "De novo" "" "" "0" "" "" "g.14358797_14358805dup" "" "pathogenic (dominant)" "" "0000487167" "0" "90" "11" "14380343" "14380351" "dup" "0" "00006" "RRAS2_000007" "g.14380343_14380351dup" "" "{PMID:Niihori 2019:31130285}" "" "" "" "De novo" "" "" "0" "" "" "g.14358797_14358805dup" "" "pathogenic (dominant)" "" "0000487168" "1" "30" "11" "14316381" "14316381" "subst" "0" "00006" "RRAS2_000008" "g.14316381A>C" "" "{PMID:Niihori 2019:31130285}" "" "" "" "De novo" "" "" "0" "" "" "g.14294835A>C" "" "likely benign" "" "0000487169" "0" "90" "11" "14316390" "14316390" "subst" "0" "00006" "RRAS2_000006" "g.14316390T>A" "" "{PMID:Niihori 2019:31130285}" "" "" "" "De novo" "" "" "0" "" "" "g.14294844T>A" "" "pathogenic (dominant)" "" "0000487189" "1" "90" "11" "14316389" "14316389" "subst" "0" "00006" "RRAS2_000009" "g.14316389T>A" "" "{PMID:Niihori 2019:31130285}" "" "" "" "De novo" "" "" "0" "" "" "g.14294843T>A" "" "pathogenic (dominant)" "" "0000543074" "0" "30" "11" "14316129" "14316129" "subst" "0" "01943" "RRAS2_000010" "g.14316129A>C" "" "" "" "RRAS2(NM_012250.6):c.300-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14294583A>C" "" "likely benign" "" "0000543075" "0" "30" "11" "14385929" "14385929" "subst" "7.70642E-6" "02326" "RRAS2_000011" "g.14385929A>G" "" "" "" "RRAS2(NM_001177314.1):c.3+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14364383A>G" "" "likely benign" "" "0000690993" "0" "90" "11" "14316397" "14316397" "subst" "8.13286E-6" "02325" "RRAS2_000005" "g.14316397C>T" "" "" "" "RRAS2(NM_012250.6):c.208G>A (p.A70T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723318" "0" "50" "11" "14317367" "14317367" "subst" "0" "01943" "RRAS2_000012" "g.14317367T>C" "" "" "" "RRAS2(NM_012250.6):c.143A>G (p.E48G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979458" "0" "50" "11" "14303161" "14303161" "subst" "0" "01804" "RRAS2_000013" "g.14303161C>G" "" "" "" "RRAS2(NM_012250.6):c.514G>C (p.(Val172Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979459" "0" "30" "11" "14330099" "14330099" "subst" "0" "01804" "RRAS2_000014" "g.14330099C>T" "" "" "" "RRAS2(NM_012250.6):c.109-12698G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038343" "0" "30" "11" "14316412" "14316412" "subst" "0" "01804" "RRAS2_000015" "g.14316412A>C" "" "" "" "RRAS2(NM_012250.6):c.197-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038344" "0" "50" "11" "14370883" "14370883" "subst" "0" "01804" "RRAS2_000016" "g.14370883A>G" "" "" "" "RRAS2(NM_012250.6):c.108+9426T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RRAS2 ## Count = 20 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000301508" "00018232" "30" "300" "-4" "300" "-4" "c.300-4del" "r.spl?" "p.?" "" "0000301509" "00018232" "30" "300" "-4" "300" "-4" "c.300-4dup" "r.spl?" "p.?" "" "0000487161" "00018232" "90" "65" "0" "73" "0" "c.65_73dup" "r.(?)" "p.(Gly22_Gly24dup)" "" "0000487162" "00018232" "90" "68" "0" "68" "0" "c.68G>T" "r.(?)" "p.(Gly23Val)" "" "0000487163" "00018232" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Ala70Thr)" "" "0000487164" "00018232" "90" "215" "0" "215" "0" "c.215A>T" "r.(?)" "p.(Gln72Leu)" "" "0000487165" "00018232" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Ala70Thr)" "" "0000487166" "00018232" "90" "70" "0" "78" "0" "c.70_78dup" "r.(?)" "p.(Gly24_Gly26dup)" "" "0000487167" "00018232" "90" "70" "0" "78" "0" "c.70_78dup" "r.(?)" "p.(Gly24_Gly26dup)" "" "0000487168" "00018232" "30" "224" "0" "224" "0" "c.224T>G" "r.(?)" "p.(Phe75Cys)" "" "0000487169" "00018232" "90" "215" "0" "215" "0" "c.215A>T" "r.(?)" "p.(Gln72Leu)" "" "0000487189" "00018232" "90" "216" "0" "216" "0" "c.216A>T" "r.(?)" "p.(Gln72His)" "" "0000543074" "00018232" "30" "300" "-4" "300" "-4" "c.300-4T>G" "r.spl?" "p.?" "" "0000543075" "00018232" "30" "-5513" "0" "-5513" "0" "c.-5513T>C" "r.(?)" "p.(=)" "" "0000690993" "00018232" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Ala70Thr)" "" "0000723318" "00018232" "50" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Glu48Gly)" "" "0000979458" "00018232" "50" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Val172Leu)" "" "0000979459" "00018232" "30" "109" "-12698" "109" "-12698" "c.109-12698G>A" "r.(=)" "p.(=)" "" "0001038343" "00018232" "30" "197" "-4" "197" "-4" "c.197-4T>G" "r.spl?" "p.?" "" "0001038344" "00018232" "50" "108" "9426" "108" "9426" "c.108+9426T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000241298" "0000487161" "0000241299" "0000487162" "0000241300" "0000487163" "0000241301" "0000487164" "0000241302" "0000487165" "0000241303" "0000487166" "0000241304" "0000487167" "0000241305" "0000487168" "0000241305" "0000487189" "0000241306" "0000487169"