### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOS2) # 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}}" "SOS2" "son of sevenless homolog 2 (Drosophila)" "14" "q21" "unknown" "NG_051073.1" "UD_132319779973" "" "http://www.LOVD.nl/SOS2" "" "1" "11188" "6655" "601247" "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/SOS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-20 14:59:26" "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}}" "00020029" "SOS2" "son of sevenless homolog 2 (Drosophila)" "001" "NM_006939.2" "" "NP_008870.2" "" "" "" "-98" "5215" "3999" "50698099" "50583846" "" "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" "05440" "NS9" "Noonan syndrome, type 9 (NS-9)" "AD" "616559" "" "autosomal dominant" "" "00006" "2018-06-20 14:52:07" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SOS2" "00383" "SOS2" "05440" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00265727" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00291048" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291049" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374134" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00388516" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "187826" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00265727" "00198" "00291048" "00198" "00291049" "00198" "00374134" "00198" "00388516" "05440" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00383, 05440 ## Count = 3 "{{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}}" "0000203512" "00198" "00265727" "01164" "Unknown" "" "Abnormality of the heart valves (HP:0001654); Cystic hygroma (HP:0000476); Generalized edema (HP:0007430)" "" "" "" "" "" "" "" "" "" "" "" "0000269345" "00198" "00374134" "00006" "Unknown" "<0d" "33w-fetus, ultrasound intrauterine growth retardation, disorder of sexual development; autopsy intrauterine growth retardation, bifid penis" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000282066" "05440" "00388516" "01164" "Unknown" "24y" "Motor delay, Delayed speech and language development, Generalized amyotrophy, Scoliosis, Pectus excavatum, Flexion contracture" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266850" "00265727" "1" "01164" "01164" "2019-10-02 10:11:42" "" "" "SEQ-NG-S" "DNA" "" "" "0000292216" "00291048" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292217" "00291049" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375327" "00374134" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000389758" "00388516" "1" "01164" "01164" "2021-11-04 10:56:44" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000375327" "SOS2" "0000389758" "SOS2" ## 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 = 113 "{{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}}" "0000252234" "0" "30" "14" "50649329" "50649329" "subst" "0" "02326" "SOS2_000002" "g.50649329A>G" "" "" "" "SOS2(NM_006939.4):c.715-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50182611A>G" "" "likely benign" "" "0000302398" "0" "90" "14" "50628269" "50628269" "subst" "0" "02326" "SOS2_000001" "g.50628269G>C" "" "" "" "SOS2(NM_006939.4):c.1127C>G (p.T376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50161551G>C" "" "pathogenic" "" "0000338338" "0" "30" "14" "50623698" "50623698" "subst" "0.000335408" "02327" "SOS2_000007" "g.50623698A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50156980A>T" "" "likely benign" "" "0000340209" "0" "10" "14" "50585248" "50585248" "subst" "0.200755" "02327" "SOS2_000003" "g.50585248C>T" "" "" "" "SOS2(NM_006939.4):c.3813G>A (p.P1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50118530C>T" "" "benign" "" "0000340210" "0" "10" "14" "50616878" "50616878" "subst" "0.623442" "02327" "SOS2_000006" "g.50616878G>A" "" "" "" "SOS2(NM_006939.4):c.2232C>T (p.N744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50150160G>A" "" "benign" "" "0000340211" "0" "10" "14" "50649223" "50649223" "subst" "0.0225003" "02327" "SOS2_000009" "g.50649223A>G" "" "" "" "SOS2(NM_006939.4):c.816T>C (p.S272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50182505A>G" "" "benign" "" "0000347793" "0" "90" "14" "50649239" "50649239" "subst" "0" "02327" "SOS2_000010" "g.50649239A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50182521A>T" "" "pathogenic" "" "0000347794" "0" "90" "14" "50649239" "50649239" "subst" "0" "02327" "SOS2_000011" "g.50649239A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50182521A>G" "" "pathogenic" "" "0000351264" "0" "10" "14" "50600834" "50600834" "subst" "0.00848196" "02327" "SOS2_000005" "g.50600834G>A" "" "" "" "SOS2(NM_006939.2):c.3075+7C>T (p.(=)), SOS2(NM_006939.4):c.3075+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50134116G>A" "" "benign" "" "0000351266" "0" "10" "14" "50671133" "50671133" "subst" "0.345263" "02327" "SOS2_000012" "g.50671133A>G" "" "" "" "SOS2(NM_006939.4):c.88-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50204415A>G" "" "benign" "" "0000552588" "0" "10" "14" "50585248" "50585248" "subst" "0.200755" "02330" "SOS2_000003" "g.50585248C>T" "" "" "" "SOS2(NM_006939.4):c.3813G>A (p.P1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50118530C>T" "" "benign" "" "0000552589" "0" "10" "14" "50585583" "50585584" "dup" "0" "02330" "METTL21D_000001" "g.50585583_50585584dup" "" "" "" "SOS2(NM_006939.4):c.3490-5_3490-4dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50118865_50118866dup" "" "benign" "" "0000552590" "0" "10" "14" "50585584" "50585584" "dup" "0" "02330" "SOS2_000004" "g.50585584dup" "" "" "" "SOS2(NM_006939.4):c.3490-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50118866dup" "" "benign" "" "0000552591" "0" "10" "14" "50585589" "50585589" "subst" "0" "02330" "METTL21D_000002" "g.50585589T>G" "" "" "" "SOS2(NM_006939.4):c.3490-18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50118871T>G" "" "benign" "" "0000552592" "0" "30" "14" "50597321" "50597321" "subst" "6.49762E-5" "02330" "SOS2_000013" "g.50597321T>C" "" "" "" "SOS2(NM_006939.4):c.3235A>G (p.T1079A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50130603T>C" "" "likely benign" "" "0000552593" "0" "10" "14" "50600834" "50600834" "subst" "0.00848196" "02330" "SOS2_000005" "g.50600834G>A" "" "" "" "SOS2(NM_006939.2):c.3075+7C>T (p.(=)), SOS2(NM_006939.4):c.3075+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50134116G>A" "" "benign" "" "0000552594" "0" "30" "14" "50600834" "50600834" "subst" "0.00848196" "01804" "SOS2_000005" "g.50600834G>A" "" "" "" "SOS2(NM_006939.2):c.3075+7C>T (p.(=)), SOS2(NM_006939.4):c.3075+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50134116G>A" "" "likely benign" "" "0000552595" "0" "10" "14" "50605520" "50605520" "del" "0" "02330" "SOS2_000014" "g.50605520del" "" "" "" "SOS2(NM_006939.4):c.2786-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50138802del" "" "benign" "" "0000552596" "0" "10" "14" "50605520" "50605520" "dup" "0" "02330" "SOS2_000015" "g.50605520dup" "" "" "" "SOS2(NM_006939.4):c.2786-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50138802dup" "" "benign" "" "0000552597" "0" "10" "14" "50616878" "50616878" "subst" "0.623442" "02330" "SOS2_000006" "g.50616878G>A" "" "" "" "SOS2(NM_006939.4):c.2232C>T (p.N744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50150160G>A" "" "benign" "" "0000552598" "0" "10" "14" "50623701" "50623702" "del" "0" "02330" "SOS2_000016" "g.50623701_50623702del" "" "" "" "SOS2(NM_006939.4):c.2057+19_2057+20delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50156983_50156984del" "" "benign" "" "0000552599" "0" "10" "14" "50626657" "50626657" "subst" "0.00363178" "02330" "SOS2_000017" "g.50626657C>T" "" "" "" "SOS2(NM_006939.4):c.1344G>A (p.L448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50159939C>T" "" "benign" "" "0000552600" "0" "10" "14" "50649223" "50649223" "subst" "0.0225003" "02330" "SOS2_000009" "g.50649223A>G" "" "" "" "SOS2(NM_006939.4):c.816T>C (p.S272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50182505A>G" "" "benign" "" "0000552601" "0" "30" "14" "50655380" "50655380" "subst" "0.000781012" "01804" "SOS2_000018" "g.50655380C>G" "" "" "" "SOS2(NM_006939.4):c.549G>C (p.L183F, p.(Leu183Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50188662C>G" "" "likely benign" "" "0000552602" "0" "10" "14" "50671133" "50671133" "subst" "0.345263" "02330" "SOS2_000012" "g.50671133A>G" "" "" "" "SOS2(NM_006939.4):c.88-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50204415A>G" "" "benign" "" "0000597677" "0" "70" "14" "50649239" "50649239" "subst" "0" "01164" "SOS2_000010" "g.50649239A>T" "" "" "" "" "ACMG: PM5,PM2,PM6; prenatal diagnosis, parents not tested yet.; Yamamoto et al. 2015. J Med Genet 0: 1" "Germline" "" "" "0" "" "" "g.50182521A>T" "" "likely pathogenic" "ACMG" "0000614964" "0" "30" "14" "50585521" "50585523" "dup" "0" "02325" "METTL21D_000003" "g.50585521_50585523dup" "" "" "" "SOS2(NM_006939.4):c.3546_3548dupTCC (p.P1183dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50118803_50118805dup" "" "likely benign" "" "0000614965" "0" "30" "14" "50605434" "50605434" "subst" "0.000331277" "01943" "SOS2_000019" "g.50605434C>T" "" "" "" "SOS2(NM_006939.3):c.2854G>A (p.D952N), SOS2(NM_006939.4):c.2854G>A (p.(Asp952Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50138716C>T" "" "likely benign" "" "0000614966" "0" "70" "14" "50611974" "50611974" "subst" "0" "02327" "SOS2_000020" "g.50611974G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50145256G>A" "" "likely pathogenic" "" "0000614967" "0" "10" "14" "50655307" "50655307" "subst" "0.0176507" "02330" "SOS2_000021" "g.50655307C>T" "" "" "" "SOS2(NM_006939.4):c.622G>A (p.A208T, p.(Ala208Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50188589C>T" "" "benign" "" "0000614968" "0" "30" "14" "50666520" "50666520" "subst" "0.000147585" "01943" "SOS2_000022" "g.50666520T>G" "" "" "" "SOS2(NM_006939.3):c.399A>C (p.V133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50199802T>G" "" "likely benign" "" "0000648905" "1" "10" "14" "50655338" "50655338" "subst" "0.00746385" "03575" "SOS2_000023" "g.50655338T>C" "11/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs113460230}" "Germline" "" "rs113460230" "0" "" "" "g.50188620T>C" "" "benign" "" "0000648906" "1" "10" "14" "50655357" "50655357" "subst" "0.00408845" "03575" "SOS2_000024" "g.50655357G>C" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs72681869}" "Germline" "" "rs72681869" "0" "" "" "g.50188639G>C" "" "benign" "" "0000657446" "0" "30" "14" "50585292" "50585292" "subst" "0.000142122" "01943" "METTL21D_000004" "g.50585292T>C" "" "" "" "SOS2(NM_006939.3):c.3769A>G (p.N1257D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50118574T>C" "" "likely benign" "" "0000657448" "0" "10" "14" "50616952" "50616952" "subst" "0.00247531" "02330" "SOS2_000026" "g.50616952G>T" "" "" "" "SOS2(NM_006939.2):c.2162-4C>A (p.?), SOS2(NM_006939.4):c.2162-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50150234G>T" "" "benign" "" "0000657449" "0" "50" "14" "50626157" "50626157" "subst" "4.12698E-6" "02327" "SOS2_000027" "g.50626157A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50159439A>G" "" "VUS" "" "0000657450" "0" "10" "14" "50655380" "50655380" "subst" "0.000781012" "02330" "SOS2_000018" "g.50655380C>G" "" "" "" "SOS2(NM_006939.4):c.549G>C (p.L183F, p.(Leu183Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50188662C>G" "" "benign" "" "0000657451" "0" "10" "14" "50670984" "50670984" "subst" "0.00118694" "02330" "SOS2_000028" "g.50670984T>A" "" "" "" "SOS2(NM_006939.4):c.213+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50204266T>A" "" "benign" "" "0000679980" "0" "50" "14" "50585480" "50585480" "subst" "0" "02327" "METTL21D_000005" "g.50585480C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679981" "0" "50" "14" "50626449" "50626449" "subst" "0" "02325" "SOS2_000029" "g.50626449C>G" "" "" "" "SOS2(NM_006939.4):c.1552G>C (p.D518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679982" "0" "30" "14" "50655308" "50655308" "subst" "0.00014937" "01943" "SOS2_000030" "g.50655308G>A" "" "" "" "SOS2(NM_006939.3):c.621C>T (p.I207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679983" "0" "30" "14" "50655357" "50655357" "subst" "0.00408845" "01943" "SOS2_000024" "g.50655357G>C" "" "" "" "SOS2(NM_006939.3):c.572C>G (p.P191R), SOS2(NM_006939.4):c.572C>G (p.P191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691658" "0" "10" "14" "50626553" "50626553" "subst" "0.00688632" "02330" "SOS2_000031" "g.50626553C>T" "" "" "" "SOS2(NM_006939.2):c.1448G>A (p.(Ser483Asn)), SOS2(NM_006939.4):c.1448G>A (p.S483N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691659" "0" "30" "14" "50649235" "50649235" "subst" "1.62537E-5" "01943" "SOS2_000032" "g.50649235A>G" "" "" "" "SOS2(NM_006939.3):c.804T>C (p.T268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691660" "0" "30" "14" "50655227" "50655227" "subst" "0.000106591" "01943" "SOS2_000033" "g.50655227C>T" "" "" "" "SOS2(NM_006939.3):c.702G>A (p.L234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691661" "0" "10" "14" "50655357" "50655357" "subst" "0.00408845" "02330" "SOS2_000024" "g.50655357G>C" "" "" "" "SOS2(NM_006939.3):c.572C>G (p.P191R), SOS2(NM_006939.4):c.572C>G (p.P191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724776" "0" "30" "14" "50585231" "50585231" "subst" "0.000337045" "02325" "METTL21D_000006" "g.50585231A>G" "" "" "" "SOS2(NM_006939.4):c.3830T>C (p.L1277P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724777" "0" "30" "14" "50626657" "50626657" "subst" "0.00363178" "02327" "SOS2_000017" "g.50626657C>T" "" "" "" "SOS2(NM_006939.4):c.1344G>A (p.L448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724778" "0" "10" "14" "50655338" "50655338" "subst" "0.00746385" "02327" "SOS2_000023" "g.50655338T>C" "" "" "" "SOS2(NM_006939.4):c.591A>G (p.L197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724779" "0" "70" "14" "50667712" "50667712" "del" "0" "01943" "SOS2_000034" "g.50667712del" "" "" "" "SOS2(NM_006939.3):c.305delC (p.P102Lfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000786668" "11" "50" "14" "50616861" "50616861" "subst" "0" "00006" "SOS2_000035" "g.50616861A>G" "" "{PMID:Lefebvre 2021:32732226}" "" "" "aspecific phenotype with paternally inherited variant, known clinical variability and incomplete penetrance in Noonan syndrome" "Germline" "" "" "0" "" "" "g.50150143A>G" "" "VUS" "" "0000806405" "0" "10" "14" "50585317" "50585317" "subst" "0.000487298" "02330" "METTL21D_000007" "g.50585317C>A" "" "" "" "SOS2(NM_006939.2):c.3744G>T (p.(Trp1248Cys)), SOS2(NM_006939.4):c.3744G>T (p.W1248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806406" "0" "10" "14" "50586974" "50586974" "subst" "0.00196648" "02330" "METTL21D_000008" "g.50586974G>A" "" "" "" "SOS2(NM_006939.4):c.3489+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806407" "0" "50" "14" "50647331" "50647331" "subst" "4.15165E-6" "02330" "SOS2_000036" "g.50647331T>C" "" "" "" "SOS2(NM_006939.4):c.928A>G (p.N310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818996" "0" "50" "14" "50626353" "50626353" "subst" "0" "01164" "SOS2_000037" "g.50626353G>C" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "RCV001267314" "VUS" "ACMG" "0000853836" "0" "30" "14" "50597306" "50597306" "subst" "0.0003371" "01943" "SOS2_000038" "g.50597306T>C" "" "" "" "SOS2(NM_006939.3):c.3250A>G (p.T1084A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863564" "0" "50" "14" "50600953" "50600953" "subst" "0" "02325" "SOS2_000039" "g.50600953A>G" "" "" "" "SOS2(NM_006939.4):c.2963T>C (p.F988S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891796" "0" "50" "14" "50585247" "50585247" "subst" "1.2183E-5" "02325" "METTL21D_000009" "g.50585247G>A" "" "" "" "SOS2(NM_006939.4):c.3814C>T (p.R1272C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891797" "0" "30" "14" "50587079" "50587079" "subst" "0" "02327" "METTL21D_000010" "g.50587079T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891799" "0" "50" "14" "50611892" "50611892" "subst" "0" "02325" "SOS2_000041" "g.50611892A>G" "" "" "" "SOS2(NM_006939.4):c.2663T>C (p.F888S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891800" "0" "50" "14" "50626719" "50626719" "subst" "4.06732E-6" "02325" "SOS2_000042" "g.50626719C>T" "" "" "" "SOS2(NM_006939.4):c.1282G>A (p.D428N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891801" "0" "50" "14" "50649298" "50649298" "subst" "0" "02327" "SOS2_000043" "g.50649298A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891802" "0" "10" "14" "50655338" "50655338" "subst" "0.00746385" "02330" "SOS2_000023" "g.50655338T>C" "" "" "" "SOS2(NM_006939.4):c.591A>G (p.L197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914194" "0" "50" "14" "50647402" "50647402" "subst" "0" "02325" "SOS2_000044" "g.50647402T>C" "" "" "" "SOS2(NM_006939.4):c.859-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925877" "0" "50" "14" "50626248" "50626248" "subst" "0" "02327" "SOS2_000045" "g.50626248C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925878" "0" "50" "14" "50626352" "50626352" "subst" "4.07093E-6" "02325" "SOS2_000046" "g.50626352C>T" "" "" "" "SOS2(NM_006939.4):c.1649G>A (p.R550Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925879" "0" "30" "14" "50626803" "50626803" "subst" "0.000100724" "02325" "SOS2_000047" "g.50626803C>T" "" "" "" "SOS2(NM_006939.4):c.1198G>A (p.D400N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930305" "0" "30" "14" "50585109" "50585109" "subst" "0.000499541" "02325" "METTL21D_000011" "g.50585109G>A" "" "" "" "SOS2(NM_006939.2):c.3952C>T (p.(Pro1318Ser)), SOS2(NM_006939.4):c.3952C>T (p.P1318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930306" "0" "50" "14" "50616843" "50616843" "subst" "0" "02325" "SOS2_000048" "g.50616843G>C" "" "" "" "SOS2(NM_006939.4):c.2267C>G (p.P756R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933942" "0" "50" "14" "50667759" "50667759" "subst" "0" "03779" "SOS2_000049" "g.50667759G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000950249" "0" "50" "14" "50626368" "50626368" "subst" "2.035E-5" "02325" "SOS2_000050" "g.50626368G>A" "" "" "" "SOS2(NM_006939.4):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952605" "0" "50" "14" "50585127" "50585127" "subst" "4.06068E-6" "03779" "SOS2_000051" "g.50585127G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs775973831" "0" "" "" "" "" "VUS" "" "0000967493" "0" "50" "14" "50641224" "50641224" "subst" "2.03552E-5" "02325" "SOS2_000052" "g.50641224C>T" "" "" "" "SOS2(NM_006939.4):c.1016G>A (p.R339H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972079" "0" "50" "14" "50626760" "50626760" "subst" "0" "03779" "SOS2_000053" "g.50626760T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000980913" "0" "30" "14" "50585584" "50585584" "del" "0" "01804" "METTL21D_000012" "g.50585584del" "" "" "" "SOS2(NM_006939.4):c.3490-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980914" "0" "30" "14" "50586544" "50586545" "dup" "0" "01804" "METTL21D_000013" "g.50586544_50586545dup" "" "" "" "SOS2(NM_006939.4):c.3489+470_3489+471dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980915" "0" "50" "14" "50626377" "50626377" "subst" "0" "01804" "SOS2_000054" "g.50626377G>C" "" "" "" "SOS2(NM_006939.4):c.1624C>G (p.(Leu542Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980916" "0" "50" "14" "50649227" "50649227" "subst" "0" "01804" "SOS2_000055" "g.50649227C>G" "" "" "" "SOS2(NM_006939.4):c.812G>C (p.(Ser271Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980917" "0" "10" "14" "50655307" "50655307" "subst" "0.0176507" "01804" "SOS2_000021" "g.50655307C>T" "" "" "" "SOS2(NM_006939.4):c.622G>A (p.A208T, p.(Ala208Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980918" "0" "30" "14" "50697963" "50697963" "subst" "0" "01804" "SOS2_000056" "g.50697963C>T" "" "" "" "SOS2(NM_006939.4):c.39G>A (p.(Glu13=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980919" "0" "50" "14" "50697970" "50697970" "subst" "0" "01804" "SOS2_000057" "g.50697970A>T" "" "" "" "SOS2(NM_006939.4):c.32T>A (p.(Phe11Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001015" "0" "30" "14" "50582635" "50582635" "subst" "6.09444E-5" "01804" "METTL21D_000014" "g.50582635A>C" "" "" "" "VCPKMT(NM_024558.2):c.378-6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001016" "0" "50" "14" "50585064" "50585064" "subst" "5.29329E-5" "01804" "METTL21D_000015" "g.50585064A>G" "" "" "" "SOS2(NM_006939.2):c.3997T>C (p.(Ter1333Argext*?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001017" "0" "30" "14" "50585109" "50585109" "subst" "0.000499541" "01804" "METTL21D_000011" "g.50585109G>A" "" "" "" "SOS2(NM_006939.2):c.3952C>T (p.(Pro1318Ser)), SOS2(NM_006939.4):c.3952C>T (p.P1318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001018" "0" "30" "14" "50585317" "50585317" "subst" "0.000487298" "01804" "METTL21D_000007" "g.50585317C>A" "" "" "" "SOS2(NM_006939.2):c.3744G>T (p.(Trp1248Cys)), SOS2(NM_006939.4):c.3744G>T (p.W1248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001019" "0" "50" "14" "50606687" "50606687" "subst" "1.6328E-5" "01804" "SOS2_000058" "g.50606687T>C" "" "" "" "SOS2(NM_006939.2):c.2758A>G (p.(Ile920Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001020" "0" "50" "14" "50606687" "50606687" "subst" "1.6328E-5" "02327" "SOS2_000058" "g.50606687T>C" "" "" "" "SOS2(NM_006939.2):c.2758A>G (p.(Ile920Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001021" "0" "50" "14" "50616763" "50616763" "subst" "8.13121E-6" "01804" "SOS2_000059" "g.50616763C>A" "" "" "" "SOS2(NM_006939.2):c.2347G>T (p.(Ala783Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001022" "0" "50" "14" "50616781" "50616781" "subst" "0" "01804" "SOS2_000060" "g.50616781G>A" "" "" "" "SOS2(NM_006939.2):c.2329C>T (p.(Leu777Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001023" "0" "30" "14" "50616893" "50616893" "subst" "2.4376E-5" "01804" "SOS2_000061" "g.50616893C>A" "" "" "" "SOS2(NM_006939.2):c.2217G>T (p.(Lys739Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001024" "0" "30" "14" "50616952" "50616952" "subst" "0.00247531" "01804" "SOS2_000026" "g.50616952G>T" "" "" "" "SOS2(NM_006939.2):c.2162-4C>A (p.?), SOS2(NM_006939.4):c.2162-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001025" "0" "30" "14" "50626553" "50626553" "subst" "0.00688632" "01804" "SOS2_000031" "g.50626553C>T" "" "" "" "SOS2(NM_006939.2):c.1448G>A (p.(Ser483Asn)), SOS2(NM_006939.4):c.1448G>A (p.S483N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001026" "0" "30" "14" "50626778" "50626778" "subst" "0" "01804" "SOS2_000062" "g.50626778T>C" "" "" "" "SOS2(NM_006939.2):c.1223A>G (p.(His408Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001027" "0" "50" "14" "50649318" "50649318" "subst" "1.25605E-5" "01804" "SOS2_000063" "g.50649318C>T" "" "" "" "SOS2(NM_006939.2):c.721G>A (p.(Glu241Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015154" "0" "50" "14" "50611949" "50611949" "subst" "8.1324E-6" "02325" "SOS2_000064" "g.50611949A>G" "" "" "" "SOS2(NM_006939.4):c.2606T>C (p.V869A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015155" "0" "30" "14" "50626608" "50626608" "subst" "0" "02327" "SOS2_000065" "g.50626608A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015156" "0" "30" "14" "50666545" "50666545" "subst" "2.53743E-5" "02325" "SOS2_000066" "g.50666545T>A" "" "" "" "SOS2(NM_006939.4):c.374A>T (p.H125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039974" "0" "30" "14" "50585575" "50585576" "ins" "0" "01804" "METTL21D_000016" "g.50585575_50585576insC" "" "" "" "SOS2(NM_006939.4):c.3490-5_3490-4insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039975" "0" "50" "14" "50605434" "50605434" "subst" "0.000331277" "01804" "SOS2_000019" "g.50605434C>T" "" "" "" "SOS2(NM_006939.3):c.2854G>A (p.D952N), SOS2(NM_006939.4):c.2854G>A (p.(Asp952Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039976" "0" "50" "14" "50616548" "50616548" "subst" "0" "01804" "SOS2_000067" "g.50616548A>G" "" "" "" "SOS2(NM_006939.4):c.2384+178T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039977" "0" "30" "14" "50623760" "50623760" "subst" "0.00130597" "01804" "SOS2_000068" "g.50623760G>T" "" "" "" "SOS2(NM_006939.4):c.2014C>A (p.(Leu672Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039978" "0" "50" "14" "50626416" "50626416" "subst" "0" "01804" "SOS2_000069" "g.50626416C>T" "" "" "" "SOS2(NM_006939.4):c.1585G>A (p.(Ala529Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039979" "0" "50" "14" "50626628" "50626628" "subst" "4.06164E-6" "01804" "SOS2_000070" "g.50626628T>C" "" "" "" "SOS2(NM_006939.4):c.1373A>G (p.(His458Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039980" "0" "50" "14" "50626632" "50626632" "subst" "0" "01804" "SOS2_000071" "g.50626632G>A" "" "" "" "SOS2(NM_006939.4):c.1369C>T (p.(Arg457Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039981" "0" "50" "14" "50628203" "50628203" "subst" "0" "01804" "SOS2_000072" "g.50628203G>A" "" "" "" "SOS2(NM_006939.4):c.1193C>T (p.(Pro398Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039982" "0" "50" "14" "50628240" "50628240" "subst" "2.44129E-5" "01804" "SOS2_000073" "g.50628240C>G" "" "" "" "SOS2(NM_006939.4):c.1156G>C (p.(Asp386His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039983" "0" "30" "14" "50640465" "50640465" "subst" "0" "01804" "SOS2_000074" "g.50640465T>G" "" "" "" "SOS2(NM_006939.4):c.1068+707A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039984" "0" "30" "14" "50671078" "50671078" "subst" "4.1111E-6" "01804" "SOS2_000075" "g.50671078T>C" "" "" "" "SOS2(NM_006939.4):c.137A>G (p.(Tyr46Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054827" "0" "50" "14" "50605425" "50605426" "ins" "0" "01804" "SOS2_000076" "g.50605425_50605426insA" "" "" "" "SOS2(NM_006939.4):c.2862_2863insT (p.(Asn955*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054828" "0" "50" "14" "50605502" "50605502" "subst" "0" "01804" "SOS2_000077" "g.50605502C>A" "" "" "" "SOS2(NM_006939.4):c.2786G>T (p.(Gly929Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054829" "0" "50" "14" "50623839" "50623839" "subst" "0" "01804" "SOS2_000078" "g.50623839C>T" "" "" "" "SOS2(NM_006939.4):c.1935G>A (p.(Arg645=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054830" "0" "50" "14" "50626319" "50626319" "subst" "4.0708E-6" "01804" "SOS2_000079" "g.50626319T>G" "" "" "" "SOS2(NM_006939.4):c.1682A>C (p.(Asn561Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054831" "0" "50" "14" "50655264" "50655264" "subst" "8.41482E-6" "01804" "SOS2_000080" "g.50655264T>G" "" "" "" "SOS2(NM_006939.4):c.665A>C (p.(Lys222Thr))" "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 SOS2 ## Count = 113 "{{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}}" "0000252234" "00020029" "30" "715" "-5" "715" "-5" "c.715-5T>C" "r.spl?" "p.?" "" "0000302398" "00020029" "90" "1127" "0" "1127" "0" "c.1127C>G" "r.(?)" "p.(Thr376Ser)" "" "0000338338" "00020029" "30" "2057" "19" "2057" "19" "c.2057+19T>A" "r.(=)" "p.(=)" "" "0000340209" "00020029" "10" "3813" "0" "3813" "0" "c.3813G>A" "r.(?)" "p.(Pro1271=)" "" "0000340210" "00020029" "10" "2232" "0" "2232" "0" "c.2232C>T" "r.(?)" "p.(Asn744=)" "" "0000340211" "00020029" "10" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(Ser272=)" "" "0000347793" "00020029" "90" "800" "0" "800" "0" "c.800T>A" "r.(?)" "p.(Met267Lys)" "" "0000347794" "00020029" "90" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Met267Thr)" "" "0000351264" "00020029" "10" "3075" "7" "3075" "7" "c.3075+7C>T" "r.(=)" "p.(=)" "" "0000351266" "00020029" "10" "88" "-6" "88" "-6" "c.88-6T>C" "r.(=)" "p.(=)" "" "0000552588" "00020029" "10" "3813" "0" "3813" "0" "c.3813G>A" "r.(?)" "p.(Pro1271=)" "" "0000552589" "00020029" "10" "3490" "-5" "3490" "-4" "c.3490-5_3490-4dup" "r.spl?" "p.?" "" "0000552590" "00020029" "10" "3490" "-4" "3490" "-4" "c.3490-4dup" "r.spl?" "p.?" "" "0000552591" "00020029" "10" "3490" "-18" "3490" "-18" "c.3490-18A>C" "r.(=)" "p.(=)" "" "0000552592" "00020029" "30" "3235" "0" "3235" "0" "c.3235A>G" "r.(?)" "p.(Thr1079Ala)" "" "0000552593" "00020029" "10" "3075" "7" "3075" "7" "c.3075+7C>T" "r.(=)" "p.(=)" "" "0000552594" "00020029" "30" "3075" "7" "3075" "7" "c.3075+7C>T" "r.(=)" "p.(=)" "" "0000552595" "00020029" "10" "2786" "-6" "2786" "-6" "c.2786-6del" "r.(=)" "p.(=)" "" "0000552596" "00020029" "10" "2786" "-6" "2786" "-6" "c.2786-6dup" "r.(=)" "p.(=)" "" "0000552597" "00020029" "10" "2232" "0" "2232" "0" "c.2232C>T" "r.(?)" "p.(Asn744=)" "" "0000552598" "00020029" "10" "2057" "19" "2057" "20" "c.2057+19_2057+20del" "r.(=)" "p.(=)" "" "0000552599" "00020029" "10" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Leu448=)" "" "0000552600" "00020029" "10" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(Ser272=)" "" "0000552601" "00020029" "30" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Leu183Phe)" "" "0000552602" "00020029" "10" "88" "-6" "88" "-6" "c.88-6T>C" "r.(=)" "p.(=)" "" "0000597677" "00020029" "70" "800" "0" "800" "0" "c.800T>A" "r.(?)" "p.(Met267Lys)" "" "0000614964" "00020029" "30" "3546" "0" "3548" "0" "c.3546_3548dup" "r.(?)" "p.(Pro1183dup)" "" "0000614965" "00020029" "30" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Asp952Asn)" "" "0000614966" "00020029" "70" "2581" "0" "2581" "0" "c.2581C>T" "r.(?)" "p.(Gln861Ter)" "" "0000614967" "00020029" "10" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000614968" "00020029" "30" "399" "0" "399" "0" "c.399A>C" "r.(?)" "p.(Val133=)" "" "0000648905" "00020029" "10" "591" "0" "591" "0" "c.591A>G" "r.(=)" "p.(=)" "" "0000648906" "00020029" "10" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000657446" "00020029" "30" "3769" "0" "3769" "0" "c.3769A>G" "r.(?)" "p.(Asn1257Asp)" "" "0000657448" "00020029" "10" "2162" "-4" "2162" "-4" "c.2162-4C>A" "r.spl?" "p.?" "" "0000657449" "00020029" "50" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Met615Thr)" "" "0000657450" "00020029" "10" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Leu183Phe)" "" "0000657451" "00020029" "10" "213" "18" "213" "18" "c.213+18A>T" "r.(=)" "p.(=)" "" "0000679980" "00020029" "50" "3581" "0" "3581" "0" "c.3581G>C" "r.(?)" "p.(Gly1194Ala)" "" "0000679981" "00020029" "50" "1552" "0" "1552" "0" "c.1552G>C" "r.(?)" "p.(Asp518His)" "" "0000679982" "00020029" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Ile207=)" "" "0000679983" "00020029" "30" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000691658" "00020029" "10" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Ser483Asn)" "" "0000691659" "00020029" "30" "804" "0" "804" "0" "c.804T>C" "r.(?)" "p.(Thr268=)" "" "0000691660" "00020029" "30" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Leu234=)" "" "0000691661" "00020029" "10" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000724776" "00020029" "30" "3830" "0" "3830" "0" "c.3830T>C" "r.(?)" "p.(Leu1277Pro)" "" "0000724777" "00020029" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Leu448=)" "" "0000724778" "00020029" "10" "591" "0" "591" "0" "c.591A>G" "r.(?)" "p.(Leu197=)" "" "0000724779" "00020029" "70" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Pro102Leufs*13)" "" "0000786668" "00020029" "50" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Ile750Thr)" "" "0000806405" "00020029" "10" "3744" "0" "3744" "0" "c.3744G>T" "r.(?)" "p.(Trp1248Cys)" "" "0000806406" "00020029" "10" "3489" "19" "3489" "19" "c.3489+19C>T" "r.(=)" "p.(=)" "" "0000806407" "00020029" "50" "928" "0" "928" "0" "c.928A>G" "r.(?)" "p.(Asn310Asp)" "" "0000818996" "00020029" "50" "1648" "0" "1648" "0" "c.1648C>G" "r.(?)" "p.(Arg550Gly)" "" "0000853836" "00020029" "30" "3250" "0" "3250" "0" "c.3250A>G" "r.(?)" "p.(Thr1084Ala)" "" "0000863564" "00020029" "50" "2963" "0" "2963" "0" "c.2963T>C" "r.(?)" "p.(Phe988Ser)" "" "0000891796" "00020029" "50" "3814" "0" "3814" "0" "c.3814C>T" "r.(?)" "p.(Arg1272Cys)" "" "0000891797" "00020029" "30" "3403" "0" "3403" "0" "c.3403A>G" "r.(?)" "p.(Ser1135Gly)" "" "0000891799" "00020029" "50" "2663" "0" "2663" "0" "c.2663T>C" "r.(?)" "p.(Phe888Ser)" "" "0000891800" "00020029" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "" "0000891801" "00020029" "50" "741" "0" "741" "0" "c.741T>G" "r.(?)" "p.(Ile247Met)" "" "0000891802" "00020029" "10" "591" "0" "591" "0" "c.591A>G" "r.(?)" "p.(Leu197=)" "" "0000914194" "00020029" "50" "859" "-2" "859" "-2" "c.859-2A>G" "r.spl?" "p.?" "" "0000925877" "00020029" "50" "1753" "0" "1753" "0" "c.1753G>T" "r.(?)" "p.(Val585Phe)" "" "0000925878" "00020029" "50" "1649" "0" "1649" "0" "c.1649G>A" "r.(?)" "p.(Arg550Gln)" "" "0000925879" "00020029" "30" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Asp400Asn)" "" "0000930305" "00020029" "30" "3952" "0" "3952" "0" "c.3952C>T" "r.(?)" "p.(Pro1318Ser)" "" "0000930306" "00020029" "50" "2267" "0" "2267" "0" "c.2267C>G" "r.(?)" "p.(Pro756Arg)" "" "0000933942" "00020029" "50" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Ala86Gly)" "" "0000950249" "00020029" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000952605" "00020029" "50" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Arg1312Trp)" "" "0000967493" "00020029" "50" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339His)" "" "0000972079" "00020029" "50" "1241" "0" "1241" "0" "c.1241A>T" "r.(?)" "p.(His414Leu)" "" "0000980913" "00020029" "30" "3490" "-4" "3490" "-4" "c.3490-4del" "r.spl?" "p.?" "" "0000980914" "00020029" "30" "3489" "470" "3489" "471" "c.3489+470_3489+471dup" "r.(=)" "p.(=)" "" "0000980915" "00020029" "50" "1624" "0" "1624" "0" "c.1624C>G" "r.(?)" "p.(Leu542Val)" "" "0000980916" "00020029" "50" "812" "0" "812" "0" "c.812G>C" "r.(?)" "p.(Ser271Thr)" "" "0000980917" "00020029" "10" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000980918" "00020029" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(=)" "" "0000980919" "00020029" "50" "32" "0" "32" "0" "c.32T>A" "r.(?)" "p.(Phe11Tyr)" "" "0001001015" "00020029" "30" "6426" "0" "6426" "0" "c.*2427T>G" "r.(=)" "p.(=)" "" "0001001016" "00020029" "50" "3997" "0" "3997" "0" "c.3997T>C" "r.(?)" "p.(*1333Argext*2)" "" "0001001017" "00020029" "30" "3952" "0" "3952" "0" "c.3952C>T" "r.(?)" "p.(Pro1318Ser)" "" "0001001018" "00020029" "30" "3744" "0" "3744" "0" "c.3744G>T" "r.(?)" "p.(Trp1248Cys)" "" "0001001019" "00020029" "50" "2758" "0" "2758" "0" "c.2758A>G" "r.(?)" "p.(Ile920Val)" "" "0001001020" "00020029" "50" "2758" "0" "2758" "0" "c.2758A>G" "r.(?)" "p.(Ile920Val)" "" "0001001021" "00020029" "50" "2347" "0" "2347" "0" "c.2347G>T" "r.(?)" "p.(Ala783Ser)" "" "0001001022" "00020029" "50" "2329" "0" "2329" "0" "c.2329C>T" "r.(?)" "p.(Leu777Phe)" "" "0001001023" "00020029" "30" "2217" "0" "2217" "0" "c.2217G>T" "r.(?)" "p.(Lys739Asn)" "" "0001001024" "00020029" "30" "2162" "-4" "2162" "-4" "c.2162-4C>A" "r.spl?" "p.?" "" "0001001025" "00020029" "30" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Ser483Asn)" "" "0001001026" "00020029" "30" "1223" "0" "1223" "0" "c.1223A>G" "r.(?)" "p.(His408Arg)" "" "0001001027" "00020029" "50" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Glu241Lys)" "" "0001015154" "00020029" "50" "2606" "0" "2606" "0" "c.2606T>C" "r.(?)" "p.(Val869Ala)" "" "0001015155" "00020029" "30" "1393" "0" "1393" "0" "c.1393T>G" "r.(?)" "p.(Leu465Val)" "" "0001015156" "00020029" "30" "374" "0" "374" "0" "c.374A>T" "r.(?)" "p.(His125Leu)" "" "0001039974" "00020029" "30" "3490" "-5" "3490" "-4" "c.3490-5_3490-4insG" "r.spl?" "p.?" "" "0001039975" "00020029" "50" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Asp952Asn)" "" "0001039976" "00020029" "50" "2384" "178" "2384" "178" "c.2384+178T>C" "r.(=)" "p.(=)" "" "0001039977" "00020029" "30" "2014" "0" "2014" "0" "c.2014C>A" "r.(?)" "p.(Leu672Ile)" "" "0001039978" "00020029" "50" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Ala529Thr)" "" "0001039979" "00020029" "50" "1373" "0" "1373" "0" "c.1373A>G" "r.(?)" "p.(His458Arg)" "" "0001039980" "00020029" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457Trp)" "" "0001039981" "00020029" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Pro398Leu)" "" "0001039982" "00020029" "50" "1156" "0" "1156" "0" "c.1156G>C" "r.(?)" "p.(Asp386His)" "" "0001039983" "00020029" "30" "1068" "707" "1068" "707" "c.1068+707A>C" "r.(=)" "p.(=)" "" "0001039984" "00020029" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0001054827" "00020029" "50" "2862" "0" "2863" "0" "c.2862_2863insT" "r.(?)" "p.(Asn955*)" "" "0001054828" "00020029" "50" "2786" "0" "2786" "0" "c.2786G>T" "r.(?)" "p.(Gly929Val)" "" "0001054829" "00020029" "50" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(=)" "" "0001054830" "00020029" "50" "1682" "0" "1682" "0" "c.1682A>C" "r.(?)" "p.(Asn561Thr)" "" "0001054831" "00020029" "50" "665" "0" "665" "0" "c.665A>C" "r.(?)" "p.(Lys222Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000266850" "0000597677" "0000292216" "0000648905" "0000292217" "0000648906" "0000375327" "0000786668" "0000389758" "0000818996"