### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RIT1) # 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}}" "RIT1" "Ras-like without CAAX 1" "1" "q21.2" "unknown" "NG_033885.1" "UD_134712041513" "" "https://www.LOVD.nl/RIT1" "" "1" "10023" "6016" "609591" "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/RIT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-04 11:12:44" "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}}" "00017797" "RIT1" "transcript variant 2" "002" "NM_006912.5" "" "NP_008843.1" "" "" "" "-203" "3240" "660" "155881193" "155867599" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "03906" "NS8" "Noonan syndrome, type 8 (NS-8)" "AD" "615355" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RIT1" "00383" "RIT1" "03906" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00043983" "" "" "" "1" "" "00034" "{PMID:Joyce 2016:26242988}" "" "M" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00043984" "" "" "" "1" "" "00034" "{PMID:Joyce 2016:26242988}" "" "M" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00080850" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00111413" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "no" "" "" "0" "" "" "" "S_011" "00393308" "" "" "" "1" "" "01164" "" "prenatal exome analysis after ultrasound screening" "?" "" "Germany" "" "0" "" "" "" "189382" "00412206" "" "" "" "1" "" "01164" "" "prenatal trio-exom after ultrasound abnormalities" "M" "no" "Germany" "" "0" "" "" "" "201305" "00419538" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9030" "00419539" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9044" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00043983" "03906" "00043984" "03906" "00080850" "03906" "00111413" "03906" "00393308" "03906" "00412206" "03906" "00419538" "00198" "00419539" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00383, 03906 ## Count = 8 "{{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}}" "0000060419" "03906" "00080850" "01758" "Isolated (sporadic)" "" "Noonan syndrome 8 (OMIM:615355)" "" "" "" "" "" "" "" "" "" "" "" "0000073481" "03906" "00043983" "00034" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000073482" "03906" "00043984" "00034" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000087499" "03906" "00111413" "00729" "Isolated (sporadic)" "" "Osteogenesis imperfecta due to a de novo mutation in COL1A1, heart defect, bronchopulmonal dysplasia, tracheostoma, severe ID, short stature, facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "0000286549" "03906" "00393308" "01164" "Isolated (sporadic)" "" "Cystic hygroma, Fetal cystic hygroma, Edema, Hydrops fetalis, Polyhydramnios, Bilateral fetal pyelectasis, Choroid plexus cyst, Fetal choroid plexus cysts, Abnormality of ductus venosus blood flow, Abnormality of the fetal cardiovascular system" "" "" "" "" "" "" "" "" "" "0y" "" "0000304220" "03906" "00412206" "01164" "Unknown" "" "Hydrops fetalis, Increased nuchal translucency, Abnormality of ductus venosus blood flow" "" "" "" "" "" "" "" "" "" "0y" "" "0000310819" "00198" "00419538" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000310820" "00198" "00419539" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000044088" "00043983" "1" "00034" "00034" "2015-06-29 10:51:10" "" "" "SEQ" "DNA" "Blood" "" "0000044089" "00043984" "1" "00034" "00034" "2015-06-29 11:08:39" "" "" "SEQ" "DNA" "blood" "" "0000080962" "00080850" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000111878" "00111413" "1" "00729" "00729" "2017-08-03 07:46:37" "" "" "SEQ-NG" "DNA" "" "" "0000394556" "00393308" "1" "01164" "01164" "2021-11-29 10:33:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000413479" "00412206" "1" "01164" "01164" "2022-06-24 11:01:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000420842" "00419538" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420843" "00419539" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000044088" "RIT1" "0000044089" "RIT1" "0000080962" "RIT1" "0000111878" "RIT1" "0000394556" "RIT1" "0000413479" "RIT1" ## 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 = 61 "{{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}}" "0000071903" "0" "70" "1" "155874285" "155874285" "subst" "0" "00034" "RIT1_000001" "g.155874285A>C" "" "{PMID:Joyce 2016:26242988}" "" "" "" "De novo" "-" "rs730881014" "0" "" "" "g.155904494A>C" "" "likely pathogenic" "" "0000071904" "0" "70" "1" "155874285" "155874285" "subst" "0" "00034" "RIT1_000001" "g.155874285A>C" "" "{PMID:Joyce 2016:26242988}" "" "" "" "Unknown" "?" "rs730881014" "0" "" "" "g.155904494A>C" "" "likely pathogenic" "" "0000130048" "0" "90" "1" "155874287" "155874287" "subst" "0" "01758" "RIT1_000002" "g.155874287A>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.155904496A>C" "" "pathogenic" "ACMG" "0000179035" "0" "90" "1" "155874589" "155874589" "subst" "0" "00729" "RIT1_000003" "g.155874589G>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.155904798G>C" "" "pathogenic" "ACMG" "0000297674" "0" "10" "1" "155880573" "155880573" "subst" "0.886674" "02325" "RIT1_000005" "g.155880573C>G" "" "" "" "RIT1(NM_001256821.2):c.31G>C (p.E11Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155910782C>G" "" "benign" "" "0000297675" "0" "10" "1" "155870416" "155870416" "subst" "0.886679" "02325" "RIT1_000004" "g.155870416G>A" "" "" "" "RIT1(NM_006912.6):c.430-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155900625G>A" "" "benign" "" "0000337287" "0" "30" "1" "155870173" "155870173" "subst" "0" "02327" "RIT1_000006" "g.155870173T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155900382T>C" "" "likely benign" "" "0000340714" "0" "10" "1" "155874156" "155874156" "subst" "0.00181546" "02327" "RIT1_000008" "g.155874156G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904365G>A" "" "benign" "" "0000341577" "0" "90" "1" "155874589" "155874589" "subst" "0" "02327" "RIT1_000003" "g.155874589G>C" "" "" "" "RIT1(NM_006912.5):c.170C>G (p.(Ala57Gly)), RIT1(NM_006912.6):c.170C>G (p.A57G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904798G>C" "" "pathogenic" "" "0000341591" "0" "90" "1" "155874530" "155874530" "subst" "0" "02327" "RIT1_000014" "g.155874530C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904739C>T" "" "pathogenic" "" "0000341633" "0" "50" "1" "155874530" "155874530" "subst" "0" "02327" "RIT1_000015" "g.155874530C>G" "" "" "" "RIT1(NM_006912.6):c.229G>C (p.(Ala77Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904739C>G" "" "VUS" "" "0000341903" "0" "70" "1" "155874166" "155874166" "subst" "0" "02327" "RIT1_000009" "g.155874166C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904375C>A" "" "likely pathogenic" "" "0000345609" "0" "90" "1" "155874289" "155874289" "subst" "0" "02327" "RIT1_000013" "g.155874289T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904498T>C" "" "pathogenic" "" "0000347910" "0" "90" "1" "155874263" "155874263" "subst" "0" "02327" "RIT1_000010" "g.155874263T>C" "" "" "" "RIT1(NM_006912.6):c.268A>G (p.M90V, p.(Met90Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904472T>C" "" "pathogenic" "" "0000348107" "0" "90" "1" "155874285" "155874285" "subst" "0" "02327" "RIT1_000001" "g.155874285A>C" "" "" "" "RIT1(NM_006912.6):c.246T>G (p.F82L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904494A>C" "" "pathogenic" "" "0000348108" "0" "90" "1" "155874285" "155874285" "subst" "0" "02327" "RIT1_000012" "g.155874285A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904494A>T" "" "pathogenic" "" "0000348284" "0" "30" "1" "155870244" "155870244" "subst" "0" "02327" "RIT1_000007" "g.155870244G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155900453G>A" "" "likely benign" "" "0000349877" "0" "90" "1" "155874266" "155874266" "subst" "0" "02327" "RIT1_000011" "g.155874266A>G" "" "" "" "RIT1(NM_006912.6):c.265T>C (p.(Tyr89His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155904475A>G" "" "pathogenic" "" "0000503595" "0" "50" "1" "155870222" "155870222" "subst" "0" "02327" "RIT1_000016" "g.155870222C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155900431C>T" "" "VUS" "" "0000503596" "0" "30" "1" "155870304" "155870304" "subst" "4.06138E-6" "02327" "RIT1_000017" "g.155870304C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155900513C>T" "" "likely benign" "" "0000503597" "0" "10" "1" "155870416" "155870416" "subst" "0.886679" "02330" "RIT1_000004" "g.155870416G>A" "" "" "" "RIT1(NM_006912.6):c.430-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155900625G>A" "" "benign" "" "0000503598" "0" "90" "1" "155874247" "155874247" "subst" "0" "02325" "RIT1_000018" "g.155874247C>G" "" "" "" "RIT1(NM_006912.6):c.284G>C (p.G95A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904456C>G" "" "pathogenic" "" "0000503599" "0" "90" "1" "155874261" "155874261" "subst" "0" "02327" "RIT1_000019" "g.155874261C>A" "" "" "" "RIT1(NM_006912.6):c.270G>T (p.M90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904470C>A" "" "pathogenic" "" "0000503600" "0" "90" "1" "155874261" "155874261" "subst" "0" "02325" "RIT1_000019" "g.155874261C>A" "" "" "" "RIT1(NM_006912.6):c.270G>T (p.M90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904470C>A" "" "pathogenic" "" "0000503601" "0" "90" "1" "155874261" "155874261" "subst" "0" "02327" "RIT1_000020" "g.155874261C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904470C>T" "" "pathogenic" "" "0000503603" "0" "70" "1" "155874287" "155874287" "subst" "0" "01943" "RIT1_000022" "g.155874287A>G" "" "" "" "RIT1(NM_006912.6):c.244T>C (p.F82L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904496A>G" "" "likely pathogenic" "" "0000503604" "0" "30" "1" "155880271" "155880271" "subst" "4.06081E-6" "02327" "KIAA0907_000002" "g.155880271G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155910480G>C" "" "likely benign" "" "0000503605" "0" "10" "1" "155880573" "155880573" "subst" "0.886674" "02330" "RIT1_000005" "g.155880573C>G" "" "" "" "RIT1(NM_001256821.2):c.31G>C (p.E11Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155910782C>G" "" "benign" "" "0000604857" "0" "30" "1" "155870329" "155870329" "subst" "8.12275E-6" "02327" "RIT1_000023" "g.155870329A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155900538A>G" "" "likely benign" "" "0000604858" "0" "50" "1" "155874193" "155874193" "subst" "0" "02327" "RIT1_000024" "g.155874193T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904402T>G" "" "VUS" "" "0000604859" "0" "90" "1" "155874247" "155874247" "subst" "0" "02327" "RIT1_000018" "g.155874247C>G" "" "" "" "RIT1(NM_006912.6):c.284G>C (p.G95A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904456C>G" "" "pathogenic" "" "0000604860" "0" "90" "1" "155874287" "155874287" "subst" "0" "02325" "RIT1_000002" "g.155874287A>C" "" "" "" "RIT1(NM_006912.6):c.244T>G (p.F82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904496A>C" "" "pathogenic" "" "0000653779" "0" "70" "1" "155874286" "155874286" "subst" "0" "02327" "RIT1_000025" "g.155874286A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155904495A>C" "" "likely pathogenic" "" "0000675500" "0" "50" "1" "155874259" "155874259" "subst" "0" "02327" "RIT1_000026" "g.155874259C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687895" "0" "90" "1" "155874589" "155874589" "subst" "0" "02325" "RIT1_000003" "g.155874589G>C" "" "" "" "RIT1(NM_006912.5):c.170C>G (p.(Ala57Gly)), RIT1(NM_006912.6):c.170C>G (p.A57G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716890" "0" "90" "1" "155874261" "155874261" "subst" "0" "02325" "RIT1_000027" "g.155874261C>G" "" "" "" "RIT1(NM_006912.6):c.270G>C (p.M90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716891" "0" "90" "1" "155874287" "155874287" "subst" "0" "02327" "RIT1_000022" "g.155874287A>G" "" "" "" "RIT1(NM_006912.6):c.244T>C (p.F82L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798824" "0" "90" "1" "155874263" "155874263" "subst" "0" "01943" "RIT1_000010" "g.155874263T>C" "" "" "" "RIT1(NM_006912.6):c.268A>G (p.M90V, p.(Met90Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798825" "0" "90" "1" "155880486" "155880486" "subst" "0" "02327" "KIAA0907_000003" "g.155880486T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000825486" "0" "90" "1" "155874263" "155874263" "subst" "0" "01164" "RIT1_000010" "g.155874263T>C" "" "PMID: 23791108, 24939608, 25959749, 7109146, 27101134, 27109146, 29734338" "" "" "ACMG: PS2, PS3_MOD, PM5, PS4_SUP, PM2_SUP, PP3" "Germline/De novo (untested)" "?" "rs1557960039" "" "" "" "" "VCV000561681.10" "pathogenic (dominant)" "ACMG" "0000848333" "0" "70" "1" "155874262" "155874262" "subst" "0" "01943" "RIT1_000029" "g.155874262A>G" "" "" "" "RIT1(NM_006912.6):c.269T>C (p.M90T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857046" "0" "70" "1" "155874223" "155874223" "subst" "0" "01804" "RIT1_000028" "g.155874223G>A" "" "" "" "RIT1(NM_006912.5):c.308C>T (p.(Thr103Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000870976" "0" "90" "1" "155874263" "155874263" "subst" "0" "01164" "RIT1_000010" "g.155874263T>C" "" "PMID: 27109146, 30293990, 23791108, 24939608, 29734338" "" "c.319A>G (p.Met107Val)" "ACMG: PS2, PS4, PS3_MOD, PM5, PM2_SUP, PP3" "De novo" "-" "" "" "" "" "" "VCV000561681.14" "pathogenic (dominant)" "ACMG" "0000881201" "0" "90" "1" "155874261" "155874261" "subst" "0" "02300" "RIT1_000020" "g.155874261C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS1, PS2, PM1, PM2, PM5, PP2, PP3, PP4, PP5" "De novo" "" "rs483352822" "0" "" "" "g.155904470C>T" "" "pathogenic (dominant)" "ACMG" "0000881202" "0" "90" "1" "155874287" "155874287" "subst" "0" "02300" "RIT1_000002" "g.155874287A>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM1, PM2, PM5, PP2, PP3, PP4, PP5" "De novo" "" "rs869025194" "0" "" "" "g.155904496A>C" "" "pathogenic (dominant)" "ACMG" "0000882818" "0" "90" "1" "155874261" "155874261" "subst" "0" "02327" "RIT1_000027" "g.155874261C>G" "" "" "" "RIT1(NM_006912.6):c.270G>C (p.M90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882819" "0" "70" "1" "155874280" "155874280" "subst" "0" "02327" "RIT1_000030" "g.155874280G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000882820" "0" "90" "1" "155874284" "155874284" "subst" "0" "02327" "RIT1_000031" "g.155874284T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882821" "0" "50" "1" "155874524" "155874524" "subst" "0" "02327" "RIT1_000032" "g.155874524G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910792" "0" "50" "1" "155870189" "155870189" "subst" "1.62526E-5" "02325" "RIT1_000033" "g.155870189G>C" "" "" "" "RIT1(NM_006912.6):c.650C>G (p.S217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910793" "0" "70" "1" "155880449" "155880449" "subst" "0" "02327" "KIAA0907_000004" "g.155880449C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000973383" "0" "30" "1" "155870196" "155870199" "del" "0" "01804" "RIT1_000034" "g.155870196_155870199del" "" "" "" "RIT1(NM_006912.6):c.644_647del (p.(Lys215IlefsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990414" "0" "50" "1" "155870205" "155870205" "subst" "7.71643E-5" "01804" "RIT1_000035" "g.155870205G>A" "" "" "" "RIT1(NM_006912.5):c.634C>T (p.(Arg212Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990415" "0" "50" "1" "155870264" "155870264" "subst" "4.06091E-6" "01804" "RIT1_000036" "g.155870264G>A" "" "" "" "RIT1(NM_006912.5):c.575C>T (p.(Ala192Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990416" "0" "90" "1" "155874589" "155874589" "subst" "0" "01804" "RIT1_000003" "g.155874589G>C" "" "" "" "RIT1(NM_006912.5):c.170C>G (p.(Ala57Gly)), RIT1(NM_006912.6):c.170C>G (p.A57G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990417" "0" "50" "1" "155880669" "155880669" "subst" "0.000135065" "01804" "KIAA0907_000006" "g.155880669C>T" "" "" "" "RIT1(NM_001256821.1):c.8G>A (p.(Arg3Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024034" "0" "90" "1" "155874285" "155874285" "subst" "0" "02325" "RIT1_000001" "g.155874285A>C" "" "" "" "RIT1(NM_006912.6):c.246T>G (p.F82L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031352" "0" "50" "1" "155874206" "155874206" "subst" "0" "01804" "RIT1_000037" "g.155874206G>A" "" "" "" "RIT1(NM_006912.6):c.325C>T (p.(His109Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031353" "0" "90" "1" "155874530" "155874530" "subst" "0" "01804" "RIT1_000015" "g.155874530C>G" "" "" "" "RIT1(NM_006912.6):c.229G>C (p.(Ala77Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050304" "0" "90" "1" "155874263" "155874263" "subst" "0" "01804" "RIT1_000010" "g.155874263T>C" "" "" "" "RIT1(NM_006912.6):c.268A>G (p.M90V, p.(Met90Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050305" "0" "90" "1" "155874266" "155874266" "subst" "0" "01804" "RIT1_000011" "g.155874266A>G" "" "" "" "RIT1(NM_006912.6):c.265T>C (p.(Tyr89His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RIT1 ## Count = 61 "{{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}}" "0000071903" "00017797" "70" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Phe82Leu)" "5" "0000071904" "00017797" "70" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Phe82Leu)" "5" "0000130048" "00017797" "90" "244" "0" "244" "0" "c.244T>G" "r.(?)" "p.(Phe82Val)" "" "0000179035" "00017797" "90" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" "0000297674" "00017797" "10" "-21" "0" "-21" "0" "c.-21G>C" "r.(?)" "p.(=)" "" "0000297675" "00017797" "10" "430" "-7" "430" "-7" "c.430-7C>T" "r.(=)" "p.(=)" "" "0000337287" "00017797" "30" "666" "0" "666" "0" "c.*6A>G" "r.(=)" "p.(=)" "" "0000340714" "00017797" "10" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Asp125=)" "" "0000341577" "00017797" "90" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" "0000341591" "00017797" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "" "0000341633" "00017797" "50" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Ala77Pro)" "" "0000341903" "00017797" "70" "365" "0" "365" "0" "c.365G>T" "r.(?)" "p.(Arg122Leu)" "" "0000345609" "00017797" "90" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Glu81Gly)" "" "0000347910" "00017797" "90" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Met90Val)" "" "0000348107" "00017797" "90" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Phe82Leu)" "" "0000348108" "00017797" "90" "246" "0" "246" "0" "c.246T>A" "r.(?)" "p.(Phe82Leu)" "" "0000348284" "00017797" "30" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Pro199Ser)" "" "0000349877" "00017797" "90" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Tyr89His)" "" "0000503595" "00017797" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Lys)" "" "0000503596" "00017797" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Val179Ile)" "" "0000503597" "00017797" "10" "430" "-7" "430" "-7" "c.430-7C>T" "r.(=)" "p.(=)" "" "0000503598" "00017797" "90" "284" "0" "284" "0" "c.284G>C" "r.(?)" "p.(Gly95Ala)" "" "0000503599" "00017797" "90" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Met90Ile)" "" "0000503600" "00017797" "90" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Met90Ile)" "" "0000503601" "00017797" "90" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Met90Ile)" "" "0000503603" "00017797" "70" "244" "0" "244" "0" "c.244T>C" "r.(?)" "p.(Phe82Leu)" "" "0000503604" "00017797" "30" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000503605" "00017797" "10" "-21" "0" "-21" "0" "c.-21G>C" "r.(?)" "p.(=)" "" "0000604857" "00017797" "30" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(Tyr170=)" "" "0000604858" "00017797" "50" "338" "0" "338" "0" "c.338A>C" "r.(?)" "p.(Glu113Ala)" "" "0000604859" "00017797" "90" "284" "0" "284" "0" "c.284G>C" "r.(?)" "p.(Gly95Ala)" "" "0000604860" "00017797" "90" "244" "0" "244" "0" "c.244T>G" "r.(?)" "p.(Phe82Val)" "" "0000653779" "00017797" "70" "245" "0" "245" "0" "c.245T>G" "r.(?)" "p.(Phe82Cys)" "" "0000675500" "00017797" "50" "272" "0" "272" "0" "c.272G>C" "r.(?)" "p.(Arg91Thr)" "" "0000687895" "00017797" "90" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" "0000716890" "00017797" "90" "270" "0" "270" "0" "c.270G>C" "r.(?)" "p.(Met90Ile)" "" "0000716891" "00017797" "90" "244" "0" "244" "0" "c.244T>C" "r.(?)" "p.(Phe82Leu)" "" "0000798824" "00017797" "90" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Met90Val)" "" "0000798825" "00017797" "90" "67" "0" "67" "0" "c.67A>C" "r.(?)" "p.(Lys23Gln)" "" "0000825486" "00017797" "90" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Met90Val)" "" "0000848333" "00017797" "70" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Met90Thr)" "" "0000857046" "00017797" "70" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Thr103Met)" "" "0000870976" "00017797" "90" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Met90Val)" "" "0000881201" "00017797" "90" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Met90Ile)" "" "0000881202" "00017797" "90" "244" "0" "244" "0" "c.244T>G" "r.(?)" "p.(Phe82Val)" "" "0000882818" "00017797" "90" "270" "0" "270" "0" "c.270G>C" "r.(?)" "p.(Met90Ile)" "" "0000882819" "00017797" "70" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Ala84Val)" "" "0000882820" "00017797" "90" "247" "0" "247" "0" "c.247A>C" "r.(?)" "p.(Thr83Pro)" "" "0000882821" "00017797" "50" "235" "0" "235" "0" "c.235C>G" "r.(?)" "p.(Gln79Glu)" "" "0000910792" "00017797" "50" "650" "0" "650" "0" "c.650C>G" "r.(?)" "p.(Ser217*)" "" "0000910793" "00017797" "70" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.(Ser35Thr)" "" "0000973383" "00017797" "30" "644" "0" "647" "0" "c.644_647del" "r.(?)" "p.(Lys215Ilefs*3)" "" "0000990414" "00017797" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Trp)" "" "0000990415" "00017797" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" "0000990416" "00017797" "90" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" "0000990417" "00017797" "50" "-43" "-74" "-43" "-74" "c.-43-74G>A" "r.(=)" "p.(=)" "" "0001024034" "00017797" "90" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Phe82Leu)" "" "0001031352" "00017797" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(His109Tyr)" "" "0001031353" "00017797" "90" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Ala77Pro)" "" "0001050304" "00017797" "90" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Met90Val)" "" "0001050305" "00017797" "90" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Tyr89His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000044088" "0000071903" "0000044089" "0000071904" "0000080962" "0000130048" "0000111878" "0000179035" "0000394556" "0000825486" "0000413479" "0000870976" "0000420842" "0000881201" "0000420843" "0000881202"