### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAF1) # 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}}" "RAF1" "v-raf-1 murine leukemia viral oncogene homolog 1" "3" "p25" "unknown" "NG_007467.1" "UD_132119035650" "" "http://www.LOVD.nl/RAF1" "" "1" "9829" "5894" "164760" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/RAF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2018-06-20 14:43:34" "00000" "2025-07-30 11:04:03" ## 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}}" "00000055" "RAF1" "v-raf-1 murine leukemia viral oncogene homolog 1" "001" "NM_002880.3" "" "NP_002871.1" "" "" "" "-415" "2860" "1947" "12705700" "12625100" "00002" "2012-05-11 13:11:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "00575" "NS5" "Noonan syndrome, type 5 (NS-5)" "AD" "611553" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00576" "LPRD2" "LEOPARD syndrome, type 2 (LPRD-2)" "" "611554" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04638" "CMD1NN" "cardiomyopathy, dilated, type 1NN (CMD-1NN)" "AD" "615916" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "RAF1" "00139" "RAF1" "00383" "RAF1" "00575" "RAF1" "00576" "RAF1" "04638" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00081007" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00164832" "" "" "" "1" "" "02506" "" "" "F" "no" "Argentina" ">17y" "0" "" "" "" "" "00181187" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "71592" "00269599" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00293195" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293196" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306221" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "125" "00329098" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "" "Germany" "32y" "0" "" "" "" "155432" "00410416" "" "" "" "1" "" "04322" "" "" "M" "no" "China" "" "" "" "" "" "Patient 3" "00410417" "" "" "" "1" "" "04322" "" "" "M" "no" "China" "" "" "" "" "" "Patient 4" "00443811" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "M" "" "Netherlands" "" "0" "" "" "" "Pat574" "00446825" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat115" "00453131" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam155Pat170" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00081007" "00575" "00164832" "00383" "00181187" "00344" "00293195" "00198" "00293196" "00198" "00306221" "00575" "00329098" "02087" "00410416" "00575" "00410417" "00575" "00443811" "00198" "00446825" "04173" "00453131" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 00344, 00383, 00575, 00576, 02087, 04172, 04173, 04638, 05330, 05378 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060576" "00575" "00081007" "01758" "Isolated (sporadic)" "" "Noonan syndrome 5 (OMIM:611553)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129899" "00383" "00164832" "02506" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "NS-5" "Noonan syndrome" "" "0000144013" "00344" "00181187" "02552" "Isolated (sporadic)" "" "HP:0008936\r\nHP:0002066\r\nHP:0001336\r\nHP:0002808" "03y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207403" "00198" "00269599" "01164" "Unknown" "" "Increased nuchal translucency (HP:0010880); Small for gestational age (HP:0001518); Downslanted palpebral fissures (HP:0000494)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247295" "02087" "00329098" "01164" "Unknown" "" "Arrhythmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302518" "00575" "00410416" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302520" "00575" "00410417" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333088" "00198" "00443811" "00006" "Isolated (sporadic)" "" "pulmonary valve stenosis, obstructive hypertrophic cardiomyopathy, cryptorchidism, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Noonan syndrome, disorders of sex development" "" "0000336029" "04173" "00446825" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341777" "04172" "00453131" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081119" "00081007" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165697" "00164832" "1" "02506" "02506" "2018-06-19 13:45:52" "" "" "SEQ" "DNA" "" "" "0000182145" "00181187" "1" "02552" "02552" "2018-10-02 15:36:30" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000270755" "00269599" "1" "01164" "01164" "2019-12-03 10:07:39" "" "" "SEQ-NG-S" "DNA" "" "" "0000294363" "00293195" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294364" "00293196" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307354" "00306221" "1" "03695" "03695" "2020-07-11 10:18:39" "" "" "SEQ-NG" "DNA" "" "" "0000330315" "00329098" "1" "01164" "01164" "2021-02-03 16:55:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000411679" "00410416" "1" "04322" "04322" "2022-05-26 09:06:33" "" "" "SEQ-NG" "DNA" "" "" "0000411680" "00410417" "1" "04322" "04322" "2022-05-26 09:18:05" "" "" "SEQ-NG" "DNA" "" "" "0000445308" "00443811" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ" "DNA" "" "" "0000448400" "00446825" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454742" "00453131" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000081119" "RAF1" "0000165697" "RAF1" "0000307354" "RAF1" "0000330315" "RAF1" "0000411679" "RAF1" "0000411680" "RAF1" ## 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 = 114 "{{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}}" "0000001001" "1" "50" "3" "12626516" "12626516" "subst" "0.35266" "00002" "RAF1_000001" "g.12626516G>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:3729931}" "" "" "" "Germline" "" "" "" "" "" "g.12585017G>A" "" "VUS" "" "0000130205" "0" "90" "3" "12645699" "12645699" "subst" "0" "01758" "RAF1_000002" "g.12645699G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.12604200G>A" "" "pathogenic" "ACMG" "0000256327" "0" "30" "3" "12626664" "12626664" "subst" "4.0624E-6" "01943" "RAF1_000005" "g.12626664A>G" "" "" "" "RAF1(NM_002880.3):c.1625T>C (p.M542T, p.(Met542Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12585165A>G" "" "likely benign" "" "0000294649" "0" "10" "3" "12626612" "12626613" "del" "0" "02330" "RAF1_000004" "g.12626612_12626613del" "" "" "" "RAF1(NM_002880.3):c.1668+10_1668+11delTG, RAF1(NM_002880.4):c.1668+10_1668+11delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12585113_12585114del" "" "benign" "" "0000294651" "0" "10" "3" "12650270" "12650270" "subst" "0.000158399" "02330" "RAF1_000012" "g.12650270T>C" "" "" "" "RAF1(NM_002880.3):c.576A>G (p.Q192=), RAF1(NM_002880.4):c.576A>G (p.Q192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12608771T>C" "" "benign" "" "0000297540" "0" "10" "3" "12645007" "12645007" "subst" "0" "02325" "RAF1_000010" "g.12645007C>T" "" "" "" "RAF1(NM_001354689.3):c.864G>A (p.A288=), RAF1(NM_002880.4):c.834+628G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12603508C>T" "" "benign" "" "0000301340" "0" "30" "3" "12641247" "12641247" "subst" "8.12308E-6" "02326" "RAF1_000007" "g.12641247G>A" "" "" "" "RAF1(NM_002880.3):c.1051C>T (p.L351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12599748G>A" "" "likely benign" "" "0000306730" "0" "30" "3" "12660096" "12660096" "subst" "0.000320791" "01943" "RAF1_000014" "g.12660096G>A" "" "" "" "RAF1(NM_002880.3):c.125C>T (p.A42V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12618597G>A" "" "likely benign" "" "0000306731" "0" "30" "3" "12641732" "12641732" "subst" "0.000308702" "01943" "RAF1_000009" "g.12641732T>G" "" "" "" "RAF1(NM_002880.3):c.909A>C (p.T303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12600233T>G" "" "likely benign" "" "0000329251" "0" "30" "3" "12641718" "12641718" "subst" "0.00132431" "01804" "RAF1_000008" "g.12641718G>A" "" "" "" "RAF1(NM_002880.3):c.923C>T (p.P308L, p.(Pro308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12600219G>A" "" "likely benign" "" "0000329252" "0" "50" "3" "12647694" "12647694" "subst" "0.000154387" "01804" "RAF1_000011" "g.12647694A>G" "" "" "" "RAF1(NM_002880.3):c.680+6T>C (p.(=)), RAF1(NM_002880.4):c.680+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12606195A>G" "" "VUS" "" "0000337091" "0" "30" "3" "12625930" "12625930" "subst" "0" "02327" "RAF1_000015" "g.12625930G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12584431G>A" "" "likely benign" "" "0000337092" "0" "10" "3" "12650848" "12650848" "subst" "0.00104524" "02327" "RAF1_000033" "g.12650848A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12609349A>T" "" "benign" "" "0000341135" "0" "50" "3" "12650799" "12650799" "subst" "0" "02327" "RAF1_000032" "g.12650799G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12609300G>A" "" "VUS" "" "0000342439" "0" "90" "3" "12645703" "12645703" "subst" "0" "02327" "RAF1_000031" "g.12645703T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604204T>C" "" "pathogenic" "" "0000344120" "0" "90" "3" "12627259" "12627259" "subst" "0" "02327" "RAF1_000018" "g.12627259T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12585760T>C" "" "pathogenic" "" "0000346027" "0" "90" "3" "12641216" "12641216" "subst" "0" "02327" "RAF1_000020" "g.12641216C>G" "" "" "" "RAF1(NM_001354689.1):c.1142G>C (p.G381A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12599717C>G" "" "pathogenic" "" "0000348329" "0" "90" "3" "12645688" "12645688" "subst" "0" "02327" "RAF1_000024" "g.12645688G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604189G>C" "" "pathogenic" "" "0000348330" "0" "90" "3" "12645687" "12645687" "subst" "0" "02327" "RAF1_000023" "g.12645687G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604188G>C" "" "pathogenic" "" "0000348331" "0" "90" "3" "12645688" "12645688" "subst" "0" "02327" "RAF1_000025" "g.12645688G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604189G>A" "" "pathogenic" "" "0000348332" "0" "90" "3" "12645688" "12645688" "subst" "0" "02327" "RAF1_000026" "g.12645688G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604189G>T" "" "pathogenic" "" "0000348367" "0" "10" "3" "12641718" "12641718" "subst" "0.00132431" "02327" "RAF1_000008" "g.12641718G>A" "" "" "" "RAF1(NM_002880.3):c.923C>T (p.P308L, p.(Pro308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12600219G>A" "" "benign" "" "0000348372" "0" "30" "3" "12641703" "12641703" "subst" "0" "02327" "RAF1_000021" "g.12641703G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12600204G>A" "" "likely benign" "" "0000348875" "0" "90" "3" "12645699" "12645699" "subst" "0" "02327" "RAF1_000002" "g.12645699G>A" "" "" "" "RAF1(NM_002880.3):c.770C>T (p.S257L, p.(Ser257Leu)), RAF1(NM_002880.4):c.770C>T (p.S257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604200G>A" "" "pathogenic" "" "0000348876" "0" "90" "3" "12645693" "12645693" "subst" "0" "02327" "RAF1_000028" "g.12645693G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604194G>A" "" "pathogenic" "" "0000348877" "0" "90" "3" "12645694" "12645694" "subst" "0" "02327" "RAF1_000029" "g.12645694A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604195A>G" "" "pathogenic" "" "0000348878" "0" "90" "3" "12645694" "12645694" "subst" "0" "02327" "RAF1_000030" "g.12645694A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604195A>T" "" "pathogenic" "" "0000349004" "0" "70" "3" "12632388" "12632388" "subst" "0" "02327" "RAF1_000019" "g.12632388T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12590889T>C" "" "likely pathogenic" "" "0000349392" "0" "70" "3" "12645691" "12645691" "subst" "0" "02327" "RAF1_000027" "g.12645691T>G" "" "" "" "RAF1(NM_002880.3):c.778A>C (p.(Thr260Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604192T>G" "" "likely pathogenic" "" "0000349537" "0" "90" "3" "12627244" "12627244" "subst" "0" "02327" "RAF1_000017" "g.12627244G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12585745G>A" "" "pathogenic" "" "0000350435" "0" "90" "3" "12645681" "12645681" "subst" "0" "02327" "RAF1_000022" "g.12645681A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12604182A>C" "" "pathogenic" "" "0000350869" "0" "10" "3" "12626493" "12626493" "subst" "0.00178036" "02327" "RAF1_000016" "g.12626493A>G" "" "" "" "RAF1(NM_002880.4):c.1669-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12584994A>G" "" "benign" "" "0000369434" "21" "70" "3" "12627249" "12627249" "subst" "0" "02506" "RAF1_000034" "g.12627249C>G" "not found in ExAC nor 1000G" "" "" "g.78477G>C" "" "Germline" "yes" "" "0" "" "" "g.12585750C>G" "" "likely pathogenic" "" "0000405979" "21" "70" "3" "12627296" "12627296" "subst" "8.12731E-6" "02552" "RAF1_000035" "g.12627296T>C" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs759107333" "0" "" "" "g.12585797T>C" "" "likely pathogenic" "" "0000517730" "0" "30" "3" "12623299" "12623299" "subst" "0" "01804" "RAF1_000036" "g.12623299C>G" "" "" "" "MKRN2(NM_001271707.1):c.840-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12581800C>G" "" "likely benign" "" "0000517732" "0" "10" "3" "12626019" "12626019" "subst" "0.00682971" "02330" "RAF1_000037" "g.12626019G>A" "" "" "" "RAF1(NM_002880.4):c.1941C>T (p.V647=, p.(Val647=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12584520G>A" "" "benign" "" "0000517735" "0" "30" "3" "12626130" "12626130" "subst" "0.000719085" "01943" "RAF1_000040" "g.12626130T>C" "" "" "" "RAF1(NM_002880.3):c.1830A>G (p.Q610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12584631T>C" "" "likely benign" "" "0000517736" "0" "10" "3" "12626394" "12626394" "subst" "0.00493613" "02330" "RAF1_000041" "g.12626394T>C" "" "" "" "RAF1(NM_002880.4):c.1755A>G (p.V585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12584895T>C" "" "benign" "" "0000517737" "0" "50" "3" "12626428" "12626428" "subst" "0.000178796" "01943" "RAF1_000042" "g.12626428T>C" "" "" "" "RAF1(NM_002880.3):c.1721A>G (p.Y574C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12584929T>C" "" "VUS" "" "0000517738" "0" "30" "3" "12641172" "12641184" "del" "0" "01943" "RAF1_000043" "g.12641172_12641184del" "" "" "" "RAF1(NM_002880.3):c.1108+9_1108+21delGGGGCCCTCCCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12599673_12599685del" "" "likely benign" "" "0000517739" "0" "10" "3" "12641718" "12641718" "subst" "0.00132431" "01943" "RAF1_000008" "g.12641718G>A" "" "" "" "RAF1(NM_002880.3):c.923C>T (p.P308L, p.(Pro308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12600219G>A" "" "benign" "" "0000517740" "0" "30" "3" "12641732" "12641732" "subst" "0.000308702" "02327" "RAF1_000009" "g.12641732T>G" "" "" "" "RAF1(NM_002880.3):c.909A>C (p.T303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12600233T>G" "" "likely benign" "" "0000517741" "0" "90" "3" "12645687" "12645687" "subst" "0" "02327" "RAF1_000044" "g.12645687G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12604188G>A" "" "pathogenic" "" "0000517742" "0" "90" "3" "12645699" "12645699" "subst" "0" "01943" "RAF1_000002" "g.12645699G>A" "" "" "" "RAF1(NM_002880.3):c.770C>T (p.S257L, p.(Ser257Leu)), RAF1(NM_002880.4):c.770C>T (p.S257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12604200G>A" "" "pathogenic" "" "0000517743" "0" "90" "3" "12645699" "12645699" "subst" "0" "02325" "RAF1_000002" "g.12645699G>A" "" "" "" "RAF1(NM_002880.3):c.770C>T (p.S257L, p.(Ser257Leu)), RAF1(NM_002880.4):c.770C>T (p.S257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12604200G>A" "" "pathogenic" "" "0000517744" "0" "30" "3" "12650270" "12650270" "subst" "0.000158399" "01943" "RAF1_000012" "g.12650270T>C" "" "" "" "RAF1(NM_002880.3):c.576A>G (p.Q192=), RAF1(NM_002880.4):c.576A>G (p.Q192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12608771T>C" "" "likely benign" "" "0000517745" "0" "30" "3" "12650378" "12650378" "subst" "0" "02326" "RAF1_000045" "g.12650378C>T" "" "" "" "RAF1(NM_002880.3):c.468G>A (p.Q156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12608879C>T" "" "likely benign" "" "0000517746" "0" "10" "3" "12650855" "12650855" "dup" "0" "02330" "RAF1_000046" "g.12650855dup" "" "" "" "RAF1(NM_002880.4):c.321-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12609356dup" "" "benign" "" "0000517747" "0" "50" "3" "12660192" "12660192" "subst" "1.21831E-5" "02325" "RAF1_000047" "g.12660192G>A" "" "" "" "RAF1(NM_002880.4):c.29C>T (p.T10M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12618693G>A" "" "VUS" "" "0000604580" "0" "90" "3" "12645699" "12645699" "subst" "0" "01164" "RAF1_000002" "g.12645699G>A" "" "" "" "" "de novo in index after exome trio analysis; variant reported in Razzaque 2007. Nat Genet 39: 1013; Pandit 2007. Nat Genet 39: 1007; Carcavilla 2013. Rev Esp Cardiol 66: 350; Meng 2017. JAMA Pediatr 171: 173438" "Germline" "" "rs80338796" "0" "" "" "g.12604200G>A" "" "pathogenic" "ACMG" "0000608281" "0" "50" "3" "12626461" "12626461" "subst" "2.03219E-5" "01943" "RAF1_000048" "g.12626461C>T" "" "" "" "RAF1(NM_002880.3):c.1688G>A (p.R563Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12584962C>T" "" "VUS" "" "0000608282" "0" "30" "3" "12626612" "12626613" "del" "0" "01943" "RAF1_000004" "g.12626612_12626613del" "" "" "" "RAF1(NM_002880.3):c.1668+10_1668+11delTG, RAF1(NM_002880.4):c.1668+10_1668+11delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12585113_12585114del" "" "likely benign" "" "0000608283" "0" "50" "3" "12645760" "12645760" "subst" "1.62521E-5" "02327" "RAF1_000049" "g.12645760C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12604261C>T" "" "VUS" "" "0000608284" "0" "50" "3" "12647694" "12647694" "subst" "0.000154387" "01943" "RAF1_000011" "g.12647694A>G" "" "" "" "RAF1(NM_002880.3):c.680+6T>C (p.(=)), RAF1(NM_002880.4):c.680+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12606195A>G" "" "VUS" "" "0000608285" "0" "30" "3" "12653454" "12653454" "subst" "0" "02327" "RAF1_000050" "g.12653454G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12611955G>C" "" "likely benign" "" "0000608286" "0" "50" "3" "12660135" "12660135" "subst" "0" "02327" "RAF1_000051" "g.12660135G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12618636G>A" "" "VUS" "" "0000621164" "0" "30" "3" "12660250" "12660250" "del" "0" "02325" "RAF1_000052" "g.12660250del" "" "" "" "RAF1(NM_001354689.3):c.-26-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12618751del" "" "likely benign" "" "0000651052" "1" "10" "3" "12633168" "12633168" "subst" "0.0169496" "03575" "RAF1_000053" "g.12633168A>G" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous, no homozygous; {DB:CLININrs2290161}" "Germline" "" "rs2290161" "0" "" "" "g.12591669A>G" "" "benign" "" "0000651053" "1" "70" "3" "12645703" "12645703" "subst" "0" "03575" "RAF1_000031" "g.12645703T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397516825}" "Germline" "" "rs397516825" "0" "" "" "g.12604204T>C" "" "likely pathogenic" "" "0000654786" "0" "50" "3" "12626379" "12626379" "subst" "4.06194E-6" "02327" "RAF1_000003" "g.12626379C>G" "" "" "" "RAF1(NM_002880.4):c.1770G>C (p.K590N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12584880C>G" "" "VUS" "" "0000654787" "0" "30" "3" "12641247" "12641247" "subst" "8.12308E-6" "01943" "RAF1_000007" "g.12641247G>A" "" "" "" "RAF1(NM_002880.3):c.1051C>T (p.L351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12599748G>A" "" "likely benign" "" "0000654788" "0" "50" "3" "12645037" "12645037" "subst" "0" "02325" "RAF1_000054" "g.12645037C>T" "" "" "" "RAF1(NM_001354689.1):c.835-1G>A, RAF1(NM_002880.4):c.834+598G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12603538C>T" "" "VUS" "" "0000673980" "0" "90" "3" "12645699" "12645699" "subst" "0" "03695" "RAF1_000002" "g.12645699G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000676806" "0" "50" "3" "12626638" "12626638" "subst" "0" "02325" "RAF1_000055" "g.12626638T>C" "" "" "" "RAF1(NM_001354689.3):c.1711A>G (p.I571V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676807" "0" "50" "3" "12627298" "12627298" "subst" "0" "02325" "RAF1_000056" "g.12627298T>C" "" "" "" "RAF1(NM_002880.4):c.1418A>G (p.N473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688918" "0" "50" "3" "12650412" "12650412" "subst" "0" "02325" "RAF1_000057" "g.12650412G>A" "" "" "" "RAF1(NM_002880.4):c.434C>T (p.T145M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000714885" "0" "50" "3" "12632333" "12632333" "subst" "2.03173E-5" "01164" "RAF1_000058" "g.12632333A>C" "" "" "" "" "ACMG: PM1, PP2, PP3, BS2: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000719165" "0" "50" "3" "12626108" "12626108" "subst" "4.0625E-6" "02329" "RAF1_000039" "g.12626108G>A" "" "" "" "RAF1(NM_002880.4):c.1852C>T (p.R618W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719166" "0" "50" "3" "12626379" "12626379" "subst" "4.06194E-6" "02329" "RAF1_000003" "g.12626379C>G" "" "" "" "RAF1(NM_002880.4):c.1770G>C (p.K590N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719167" "0" "50" "3" "12645037" "12645037" "subst" "0" "01943" "RAF1_000054" "g.12645037C>T" "" "" "" "RAF1(NM_001354689.1):c.835-1G>A, RAF1(NM_002880.4):c.834+598G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719168" "0" "50" "3" "12660097" "12660097" "subst" "0.000320791" "01943" "RAF1_000059" "g.12660097C>T" "" "" "" "RAF1(NM_002880.3):c.124G>A (p.A42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719169" "0" "30" "3" "12660099" "12660099" "subst" "0.00028018" "01943" "RAF1_000060" "g.12660099C>T" "" "" "" "RAF1(NM_001354689.1):c.122G>A (p.R41Q), RAF1(NM_002880.3):c.122G>A (p.(Arg41Gln)), RAF1(NM_002880.4):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800949" "0" "10" "3" "12626493" "12626493" "subst" "0.00178036" "02330" "RAF1_000016" "g.12626493A>G" "" "" "" "RAF1(NM_002880.4):c.1669-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800950" "0" "30" "3" "12633259" "12633259" "subst" "0.000276266" "01943" "RAF1_000061" "g.12633259C>T" "" "" "" "RAF1(NM_002880.3):c.1141G>A (p.D381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800951" "0" "70" "3" "12650322" "12650322" "subst" "0" "02327" "RAF1_000062" "g.12650322T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800952" "0" "50" "3" "12660099" "12660099" "subst" "0.00028018" "02325" "RAF1_000060" "g.12660099C>T" "" "" "" "RAF1(NM_001354689.1):c.122G>A (p.R41Q), RAF1(NM_002880.3):c.122G>A (p.(Arg41Gln)), RAF1(NM_002880.4):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850116" "0" "50" "3" "12632469" "12632469" "subst" "0" "02326" "RAF1_000063" "g.12632469T>C" "" "" "" "RAF1(NM_002880.3):c.1198A>G (p.T400A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850117" "0" "70" "3" "12641216" "12641216" "subst" "0" "01943" "RAF1_000020" "g.12641216C>G" "" "" "" "RAF1(NM_001354689.1):c.1142G>C (p.G381A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850118" "0" "30" "3" "12660099" "12660099" "subst" "0.00028018" "02327" "RAF1_000060" "g.12660099C>T" "" "" "" "RAF1(NM_001354689.1):c.122G>A (p.R41Q), RAF1(NM_002880.3):c.122G>A (p.(Arg41Gln)), RAF1(NM_002880.4):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850119" "0" "50" "3" "12660192" "12660192" "subst" "1.21831E-5" "02329" "RAF1_000047" "g.12660192G>A" "" "" "" "RAF1(NM_002880.4):c.29C>T (p.T10M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868880" "0" "90" "3" "12645699" "12645699" "subst" "0" "04322" "RAF1_000002" "g.12645699G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000868881" "0" "90" "3" "12645699" "12645699" "subst" "0" "04322" "RAF1_000002" "g.12645699G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000885533" "0" "50" "3" "12626050" "12626050" "subst" "1.62563E-5" "02325" "RAF1_000064" "g.12626050C>T" "" "" "" "RAF1(NM_002880.4):c.1910G>A (p.C637Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911820" "0" "70" "3" "12645690" "12645690" "subst" "0" "02325" "RAF1_000065" "g.12645690G>A" "" "" "" "RAF1(NM_002880.4):c.779C>T (p.T260I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923826" "0" "10" "3" "12645007" "12645007" "subst" "0" "02330" "RAF1_000010" "g.12645007C>T" "" "" "" "RAF1(NM_001354689.3):c.864G>A (p.A288=), RAF1(NM_002880.4):c.834+628G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928698" "0" "30" "3" "12660155" "12660155" "subst" "5.68491E-5" "02325" "RAF1_000066" "g.12660155A>C" "" "" "" "RAF1(NM_002880.4):c.66T>G (p.F22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948012" "0" "30" "3" "12650270" "12650270" "subst" "0.000158399" "02327" "RAF1_000012" "g.12650270T>C" "" "" "" "RAF1(NM_002880.3):c.576A>G (p.Q192=), RAF1(NM_002880.4):c.576A>G (p.Q192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952222" "0" "90" "3" "12645699" "12645699" "subst" "0" "00006" "RAF1_000002" "g.12645699G>A" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.12604200G>A" "" "pathogenic (dominant)" "" "0000957807" "0" "70" "3" "12626126" "12626127" "del" "0" "00006" "RAF1_000067" "g.12626126_12626127del" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "RAF1 398_398del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12584627_12584628del" "" "likely pathogenic" "" "0000975533" "0" "30" "3" "12629109" "12629109" "subst" "2.0315E-5" "01804" "RAF1_000068" "g.12629109A>G" "" "" "" "RAF1(NM_002880.4):c.1398T>C (p.(His466=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975534" "0" "30" "3" "12641904" "12641904" "subst" "1.62464E-5" "01804" "RAF1_000069" "g.12641904C>T" "" "" "" "RAF1(NM_002880.4):c.845G>A (p.(Arg282Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975535" "0" "50" "3" "12647694" "12647694" "subst" "0.000154387" "02325" "RAF1_000011" "g.12647694A>G" "" "" "" "RAF1(NM_002880.3):c.680+6T>C (p.(=)), RAF1(NM_002880.4):c.680+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989803" "0" "50" "3" "12626016" "12626016" "subst" "0" "02515" "RAF1_000070" "g.12626016G>C" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.12584517G>C" "" "VUS" "" "0000993232" "0" "50" "3" "12626664" "12626664" "subst" "4.0624E-6" "01804" "RAF1_000005" "g.12626664A>G" "" "" "" "RAF1(NM_002880.3):c.1625T>C (p.M542T, p.(Met542Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993233" "0" "50" "3" "12626724" "12626724" "subst" "8.12354E-6" "01804" "RAF1_000071" "g.12626724T>C" "" "" "" "RAF1(NM_002880.3):c.1565A>G (p.(Asn522Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993234" "0" "50" "3" "12641914" "12641914" "subst" "5.68611E-5" "01804" "RAF1_000072" "g.12641914C>T" "" "" "" "RAF1(NM_002880.3):c.835G>A (p.(Asp279Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993235" "0" "90" "3" "12645691" "12645691" "subst" "0" "01804" "RAF1_000027" "g.12645691T>G" "" "" "" "RAF1(NM_002880.3):c.778A>C (p.(Thr260Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993236" "0" "90" "3" "12645699" "12645699" "subst" "0" "01804" "RAF1_000002" "g.12645699G>A" "" "" "" "RAF1(NM_002880.3):c.770C>T (p.S257L, p.(Ser257Leu)), RAF1(NM_002880.4):c.770C>T (p.S257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993237" "0" "50" "3" "12660099" "12660099" "subst" "0.00028018" "01804" "RAF1_000060" "g.12660099C>T" "" "" "" "RAF1(NM_001354689.1):c.122G>A (p.R41Q), RAF1(NM_002880.3):c.122G>A (p.(Arg41Gln)), RAF1(NM_002880.4):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011834" "0" "30" "3" "12626648" "12626648" "subst" "0" "03779" "RAF1_000073" "g.12626648A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001012929" "0" "70" "3" "12645688" "12645688" "subst" "0" "03779" "RAF1_000024" "g.12645688G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs121434594" "0" "" "" "" "" "likely pathogenic" "" "0001012941" "0" "50" "3" "12626081" "12626081" "subst" "8.12737E-6" "03779" "RAF1_000038" "g.12626081G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs730881005" "0" "" "" "" "" "VUS" "" "0001013811" "0" "50" "3" "12632394" "12632394" "subst" "0" "02325" "RAF1_000074" "g.12632394C>T" "" "" "" "RAF1(NM_002880.4):c.1273G>A (p.E425K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023925" "0" "90" "3" "12645699" "12645699" "subst" "0" "03779" "RAF1_000002" "g.12645699G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs80338796" "0" "" "" "" "" "pathogenic" "" "0001024718" "0" "30" "3" "12645037" "12645037" "subst" "0" "02327" "RAF1_000054" "g.12645037C>T" "" "" "" "RAF1(NM_001354689.1):c.835-1G>A, RAF1(NM_002880.4):c.834+598G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033636" "0" "30" "3" "12626019" "12626019" "subst" "0.00682971" "01804" "RAF1_000037" "g.12626019G>A" "" "" "" "RAF1(NM_002880.4):c.1941C>T (p.V647=, p.(Val647=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033637" "0" "50" "3" "12627232" "12627232" "subst" "4.0619E-6" "01804" "RAF1_000075" "g.12627232C>T" "" "" "" "RAF1(NM_002880.4):c.1484G>A (p.(Arg495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033638" "0" "50" "3" "12641889" "12641889" "subst" "0" "01804" "RAF1_000076" "g.12641889G>A" "" "" "" "RAF1(NM_002880.4):c.860C>T (p.(Ser287Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033639" "0" "30" "3" "12647694" "12647694" "subst" "0.000154387" "02327" "RAF1_000011" "g.12647694A>G" "" "" "" "RAF1(NM_002880.3):c.680+6T>C (p.(=)), RAF1(NM_002880.4):c.680+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033640" "0" "50" "3" "12660100" "12660100" "subst" "0" "01804" "RAF1_000077" "g.12660100G>A" "" "" "" "RAF1(NM_002880.4):c.121C>T (p.(Arg41Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033641" "0" "50" "3" "12660166" "12660166" "subst" "0" "02327" "RAF1_000078" "g.12660166C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033653" "0" "50" "3" "12693081" "12693081" "subst" "0" "01804" "RAF1_000079" "g.12693081T>C" "" "" "" "RAF1(NM_002880.4):c.-27+12231A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045876" "0" "50" "3" "12650790" "12650790" "subst" "0" "02325" "RAF1_000080" "g.12650790A>G" "" "" "" "RAF1(NM_002880.4):c.365T>C (p.I122T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047035" "0" "30" "3" "12626080" "12626080" "subst" "0" "03779" "RAF1_000081" "g.12626080C>T" "" "" "" "" "" "Unknown" "" "rs730881006" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RAF1 ## Count = 114 "{{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}}" "0000001001" "00000055" "50" "1669" "-36" "1669" "-36" "c.1669-36C>T" "r.(=)" "p.(=)" "" "0000130205" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000256327" "00000055" "30" "1625" "0" "1625" "0" "c.1625T>C" "r.(?)" "p.(Met542Thr)" "" "0000294649" "00000055" "10" "1668" "10" "1668" "11" "c.1668+10_1668+11del" "r.(=)" "p.(=)" "" "0000294651" "00000055" "10" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Gln192=)" "" "0000297540" "00000055" "10" "834" "628" "834" "628" "c.834+628G>A" "r.(=)" "p.(=)" "" "0000301340" "00000055" "30" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Leu351=)" "" "0000306730" "00000055" "30" "125" "0" "125" "0" "c.125C>T" "r.(?)" "p.(Ala42Val)" "" "0000306731" "00000055" "30" "909" "0" "909" "0" "c.909A>C" "r.(?)" "p.(Thr303=)" "" "0000329251" "00000055" "30" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Pro308Leu)" "" "0000329252" "00000055" "50" "680" "6" "680" "6" "c.680+6T>C" "r.(=)" "p.(=)" "" "0000337091" "00000055" "30" "2030" "0" "2030" "0" "c.*83C>T" "r.(=)" "p.(=)" "" "0000337092" "00000055" "10" "321" "-14" "321" "-14" "c.321-14T>A" "r.(=)" "p.(=)" "" "0000341135" "00000055" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Ala119Val)" "" "0000342439" "00000055" "90" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Arg256Gly)" "" "0000344120" "00000055" "90" "1457" "0" "1457" "0" "c.1457A>G" "r.(?)" "p.(Asp486Gly)" "" "0000346027" "00000055" "90" "1082" "0" "1082" "0" "c.1082G>C" "r.(?)" "p.(Gly361Ala)" "" "0000348329" "00000055" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" "" "0000348330" "00000055" "90" "782" "0" "782" "0" "c.782C>G" "r.(?)" "p.(Pro261Arg)" "" "0000348331" "00000055" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Pro261Ser)" "" "0000348332" "00000055" "90" "781" "0" "781" "0" "c.781C>A" "r.(?)" "p.(Pro261Thr)" "" "0000348367" "00000055" "10" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Pro308Leu)" "" "0000348372" "00000055" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "" "0000348875" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000348876" "00000055" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Phe)" "" "0000348877" "00000055" "90" "775" "0" "775" "0" "c.775T>C" "r.(?)" "p.(Ser259Pro)" "" "0000348878" "00000055" "90" "775" "0" "775" "0" "c.775T>A" "r.(?)" "p.(Ser259Thr)" "" "0000349004" "00000055" "70" "1279" "0" "1279" "0" "c.1279A>G" "r.(?)" "p.(Ser427Gly)" "" "0000349392" "00000055" "70" "778" "0" "778" "0" "c.778A>C" "r.(?)" "p.(Thr260Pro)" "" "0000349537" "00000055" "90" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Thr491Ile)" "" "0000350435" "00000055" "90" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Val263Gly)" "" "0000350869" "00000055" "10" "1669" "-13" "1669" "-13" "c.1669-13T>C" "r.(=)" "p.(=)" "" "0000369434" "00000055" "70" "1467" "0" "1467" "0" "c.1467G>C" "r.(?)" "p.(Leu489Phe)" "14" "0000405979" "00000055" "70" "1420" "0" "1420" "0" "c.1420A>G" "r.(?)" "p.(Ile474Val)" "" "0000517730" "00000055" "30" "4661" "0" "4661" "0" "c.*2714G>C" "r.(=)" "p.(=)" "" "0000517732" "00000055" "10" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Val647=)" "" "0000517735" "00000055" "30" "1830" "0" "1830" "0" "c.1830A>G" "r.(?)" "p.(Gln610=)" "" "0000517736" "00000055" "10" "1755" "0" "1755" "0" "c.1755A>G" "r.(?)" "p.(Val585=)" "" "0000517737" "00000055" "50" "1721" "0" "1721" "0" "c.1721A>G" "r.(?)" "p.(Tyr574Cys)" "" "0000517738" "00000055" "30" "1108" "9" "1108" "21" "c.1108+9_1108+21del" "r.(=)" "p.(=)" "" "0000517739" "00000055" "10" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Pro308Leu)" "" "0000517740" "00000055" "30" "909" "0" "909" "0" "c.909A>C" "r.(?)" "p.(Thr303=)" "" "0000517741" "00000055" "90" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Pro261Leu)" "" "0000517742" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000517743" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000517744" "00000055" "30" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Gln192=)" "" "0000517745" "00000055" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Gln156=)" "" "0000517746" "00000055" "10" "321" "-14" "321" "-14" "c.321-14dup" "r.(=)" "p.(=)" "" "0000517747" "00000055" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Thr10Met)" "" "0000604580" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000608281" "00000055" "50" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563Gln)" "" "0000608282" "00000055" "30" "1668" "10" "1668" "11" "c.1668+10_1668+11del" "r.(=)" "p.(=)" "" "0000608283" "00000055" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Ala237Thr)" "" "0000608284" "00000055" "50" "680" "6" "680" "6" "c.680+6T>C" "r.(=)" "p.(=)" "" "0000608285" "00000055" "30" "315" "0" "315" "0" "c.315C>G" "r.(?)" "p.(His105Gln)" "" "0000608286" "00000055" "50" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Ser29Phe)" "" "0000621164" "00000055" "30" "-26" "-3" "-26" "-3" "c.-26-3del" "r.spl?" "p.?" "" "0000651052" "00000055" "10" "1193" "39" "1193" "39" "c.1193+39T>C" "r.(=)" "p.(=)" "" "0000651053" "00000055" "70" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Arg256Gly)" "" "0000654786" "00000055" "50" "1770" "0" "1770" "0" "c.1770G>C" "r.(?)" "p.(Lys590Asn)" "" "0000654787" "00000055" "30" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Leu351=)" "" "0000654788" "00000055" "50" "834" "598" "834" "598" "c.834+598G>A" "r.(=)" "p.(=)" "" "0000673980" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000676806" "00000055" "50" "1651" "0" "1651" "0" "c.1651A>G" "r.(?)" "p.(Ile551Val)" "" "0000676807" "00000055" "50" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asn473Ser)" "" "0000688918" "00000055" "50" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Thr145Met)" "" "0000714885" "00000055" "50" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Arg)" "" "0000719165" "00000055" "50" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Arg618Trp)" "" "0000719166" "00000055" "50" "1770" "0" "1770" "0" "c.1770G>C" "r.(?)" "p.(Lys590Asn)" "" "0000719167" "00000055" "50" "834" "598" "834" "598" "c.834+598G>A" "r.(=)" "p.(=)" "" "0000719168" "00000055" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Ala42Thr)" "" "0000719169" "00000055" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000800949" "00000055" "10" "1669" "-13" "1669" "-13" "c.1669-13T>C" "r.(=)" "p.(=)" "" "0000800950" "00000055" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000800951" "00000055" "70" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(His175Arg)" "" "0000800952" "00000055" "50" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000850116" "00000055" "50" "1198" "0" "1198" "0" "c.1198A>G" "r.(?)" "p.(Thr400Ala)" "" "0000850117" "00000055" "70" "1082" "0" "1082" "0" "c.1082G>C" "r.(?)" "p.(Gly361Ala)" "" "0000850118" "00000055" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000850119" "00000055" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Thr10Met)" "" "0000868880" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000868881" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000885533" "00000055" "50" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Cys637Tyr)" "" "0000911820" "00000055" "70" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000923826" "00000055" "10" "834" "628" "834" "628" "c.834+628G>A" "r.(=)" "p.(=)" "" "0000928698" "00000055" "30" "66" "0" "66" "0" "c.66T>G" "r.(?)" "p.(Phe22Leu)" "" "0000948012" "00000055" "30" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Gln192=)" "" "0000952222" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000957807" "00000055" "70" "1837" "0" "1838" "0" "c.1837_1838del" "r.(?)" "p.(Leu613ThrfsTer19)" "" "0000975533" "00000055" "30" "1398" "0" "1398" "0" "c.1398T>C" "r.(?)" "p.(=)" "" "0000975534" "00000055" "30" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Gln)" "" "0000975535" "00000055" "50" "680" "6" "680" "6" "c.680+6T>C" "r.(=)" "p.(=)" "" "0000989803" "00000055" "50" "1944" "0" "1944" "0" "c.1944C>G" "r.(?)" "p.(Phe648Leu)" "" "0000993232" "00000055" "50" "1625" "0" "1625" "0" "c.1625T>C" "r.(?)" "p.(Met542Thr)" "" "0000993233" "00000055" "50" "1565" "0" "1565" "0" "c.1565A>G" "r.(?)" "p.(Asn522Ser)" "" "0000993234" "00000055" "50" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Asp279Asn)" "" "0000993235" "00000055" "90" "778" "0" "778" "0" "c.778A>C" "r.(?)" "p.(Thr260Pro)" "" "0000993236" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0000993237" "00000055" "50" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0001011834" "00000055" "30" "1641" "0" "1641" "0" "c.1641T>G" "r.(?)" "p.(Pro547=)" "" "0001012929" "00000055" "70" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" "" "0001012941" "00000055" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Trp)" "" "0001013811" "00000055" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Glu425Lys)" "" "0001023925" "00000055" "90" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Leu)" "" "0001024718" "00000055" "30" "834" "598" "834" "598" "c.834+598G>A" "r.(=)" "p.(=)" "" "0001033636" "00000055" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Val647=)" "" "0001033637" "00000055" "50" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "0001033638" "00000055" "50" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Ser287Leu)" "" "0001033639" "00000055" "30" "680" "6" "680" "6" "c.680+6T>C" "r.(=)" "p.(=)" "" "0001033640" "00000055" "50" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "" "0001033641" "00000055" "50" "55" "0" "55" "0" "c.55G>C" "r.(?)" "p.(Asp19His)" "" "0001033653" "00000055" "50" "-27" "12231" "-27" "12231" "c.-27+12231A>G" "r.(=)" "p.(=)" "" "0001045876" "00000055" "50" "365" "0" "365" "0" "c.365T>C" "r.(?)" "p.(Ile122Thr)" "" "0001047035" "00000055" "30" "1880" "0" "1880" "0" "c.1880G>A" "r.(?)" "p.(Arg627Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000019" "0000001001" "0000081119" "0000130205" "0000165697" "0000369434" "0000182145" "0000405979" "0000270755" "0000604580" "0000294363" "0000651052" "0000294364" "0000651053" "0000307354" "0000673980" "0000330315" "0000714885" "0000411679" "0000868880" "0000411680" "0000868881" "0000445308" "0000952222" "0000448400" "0000957807" "0000454742" "0000989803"