### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RUNX1) # 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}}" "RUNX1" "runt-related transcription factor 1" "21" "q22.3" "unknown" "NG_011402.2" "UD_132118743511" "" "https://www.LOVD.nl/RUNX1" "" "1" "10471" "861" "151385" "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/RUNX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-24 15:37:05" "00000" "2025-04-25 15:03:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025335" "RUNX1" "transcript variant 1" "001" "NM_001754.4" "" "NP_001745.2" "" "" "" "-190" "5777" "1443" "36421595" "36160098" "00006" "2018-10-24 15:38:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "02360" "FPDMM" "platelet disorder, familial, with associated myeloid malignancy (FPDMM)" "AD" "601399" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "06495" "RLSDF" "Rhizomelic limb shortening with dysmorphic features" "AR" "618821" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RUNX1" "00908" "RUNX1" "02360" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00050544" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00301052" "" "" "" "1" "" "00006" "{PMID:Braddock 1994:7515754}, {PMID:Braddock 2016:27549381}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00301053" "" "" "" "1" "" "00006" "{PMID:Braddock 1994:7515754}, {PMID:Braddock 2016:27549381}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00301062" "" "" "" "1" "" "00006" "{PMID:Thevenon 2011:21204219}" "" "" "" "France" "" "0" "" "" "" "patient" "00301063" "" "" "" "1" "" "00006" "{PMID:Katzaki 2010:20578134}" "" "F" "" "Italy" "" "0" "" "" "" "Pat1" "00301064" "" "" "" "1" "" "00006" "{PMID:Katzaki 2010:20578134}" "" "M" "" "Italy" "" "0" "" "" "" "Pat2" "00301065" "" "" "" "1" "" "00006" "{PMID:Katzaki 2010:20578134}" "" "F" "" "Italy" "" "0" "" "" "" "Pat3" "00301066" "" "" "" "1" "" "00006" "{PMID:Shinawi 2008:18487507}" "" "M" "" "United States" "" "0" "" "" "white, European" "Pat1" "00301067" "" "" "" "1" "" "00006" "{PMID:Shinawi 2008:18487507}" "" "F" "" "Philippines;United States" "" "0" "" "" "white, European" "Pat2" "00301068" "" "" "" "1" "" "00006" "{PMID:Shinawi 2008:18487507}" "" "F" "" "United States" "" "0" "" "" "white, Hispanic" "Pat3" "00301069" "" "" "" "1" "" "00006" "{PMID:Byrd 2011:21204218}" "" "F" "" "United States" "" "0" "" "" "" "patient" "00301070" "" "" "" "1" "" "00006" "{PMID:Fujita 2010:20358607}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00301071" "" "" "" "1" "" "00006" "{PMID:Click 2011:21626672}" "" "F" "" "United States" "" "0" "" "" "" "patient" "00301073" "" "" "" "1" "" "00006" "{PMID:Fukai 2014:24458657}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00301074" "" "" "" "1" "" "00006" "{PMID:Christensen 2013:23443295}" "" "M" "" "United States" "" "0" "" "" "white" "patient" "00433042" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "" "0" "" "" "Europe" "Pat9,1" "00433113" "" "" "" "2" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "3-generation family, 2 affected cousins, unaffected heterozygous carrier relatives" "M" "" "Mexico" "" "0" "" "" "" "Pat91,1" "00433114" "" "" "00433113" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "cousin" "M" "" "Mexico" "" "0" "" "" "" "Pat91,4" "00433125" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat102,1" "00435464" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "2-generation family, 1 affected, unaffected heterozygous parents" "?" "" "United States" "" "0" "" "" "" "Pat2" "00443721" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "MXCCR0745_S17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00050544" "00198" "00301052" "00198" "00301053" "00198" "00301062" "00198" "00301063" "00198" "00301064" "00198" "00301065" "00198" "00301066" "00198" "00301067" "00198" "00301068" "00198" "00301069" "00198" "00301070" "00198" "00301071" "00198" "00301073" "00198" "00301074" "00198" "00433042" "05292" "00433113" "05292" "00433114" "05292" "00433125" "05292" "00435464" "06495" "00443721" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00908, 02360, 05292, 05489, 06495 ## Count = 21 "{{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}}" "0000037156" "00198" "00050544" "00006" "Isolated (sporadic)" "" "bifid uvula, submucous cleft hard palate, pectus excavatum, autism with high cognitive abilities" "" "" "" "" "" "" "" "" "" "" "" "0000228357" "00198" "00301052" "00006" "Familial, autosomal dominant" "29y" "developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; no renal malformation; congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum" "" "00y30m" "" "" "" "" "" "" "ZTTKS" "Braddock–Carey syndrome" "" "0000228358" "00198" "00301053" "00006" "Familial, autosomal dominant" "" "developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; renal malformation; no congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum; 4y6m-sparse hair, broad nasal root, U-shaped vermilion upper lip, thickness lower lip, lack of facial expression" "" "03y06m" "" "" "" "" "" "" "ZTTKS" "Braddock–Carey syndrome" "" "0000228367" "00198" "00301062" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; no microcephaly; micrognathia, Pierre Robin Sequence; enamel hypoplasia; ear abnormality; congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228368" "00198" "00301063" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; micrognathia, Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; no congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228369" "00198" "00301064" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; no congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228370" "00198" "00301065" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228371" "00198" "00301066" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; enamel hypoplasia; no ear abnormality; congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228372" "00198" "00301067" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; no congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228373" "00198" "00301068" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; no congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228374" "00198" "00301069" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; no microcephaly; micrognathia, Pierre Robin Sequence; enamel hypoplasia; ear abnormality; congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228375" "00198" "00301070" "00006" "Isolated (sporadic)" "" "see paper; ...,no thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; micrognathia, Pierre Robin Sequence; enamel hypoplasia; ear abnormality; no congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228376" "00198" "00301071" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; micrognathia, Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228378" "00198" "00301073" "00006" "Isolated (sporadic)" "" "see paper; ...,no thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000228379" "00198" "00301074" "00006" "Isolated (sporadic)" "" "see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; no microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; no congenital heart disease" "" "" "" "" "" "" "" "" "" "" "" "0000323568" "05292" "00433042" "00006" "Familial, X-linked" "6y" "autoimmune disease" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323639" "05292" "00433113" "00006" "Familial, autosomal recessive" "" "neutropenia, congenital heart defect" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323640" "05292" "00433114" "00006" "Familial, autosomal recessive" "" "neutropenia, congenital heart defect" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323651" "05292" "00433125" "00006" "Isolated (sporadic)" "6y" "neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000325654" "06495" "00435464" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation" "" "<00y06m" "" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" "" "0000333003" "05489" "00443721" "04599" "Unknown" "48" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050489" "00050544" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000302174" "00301052" "1" "00006" "00006" "2020-05-06 16:03:30" "00006" "2020-05-06 16:07:53" "arraySNP" "DNA" "" "Affymetrix SNP 6.0" "0000302175" "00301053" "1" "00006" "00006" "2020-05-06 16:12:34" "" "" "arraySNP" "DNA" "" "Affymetrix MIP Microarray" "0000302184" "00301062" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 17:25:32" "arrayCGH" "DNA" "" "" "0000302185" "00301063" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:17:49" "arrayCGH" "DNA" "" "" "0000302186" "00301064" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:18:05" "arrayCGH" "DNA" "" "" "0000302187" "00301065" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:17:29" "arrayCGH" "DNA" "" "" "0000302188" "00301066" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:26:18" "arraySNP" "DNA" "" "Affymetrix 50K SNP" "0000302189" "00301067" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:31:54" "arrayCGH" "DNA" "" "Agilent 244K Whole Human Genome CGH" "0000302190" "00301068" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:34:33" "arrayCGH" "DNA" "" "Agilent 244K Whole Human Genome CGH" "0000302191" "00301069" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:45:59" "arraySNP" "DNA" "" "SignatureChip OS V1.1" "0000302192" "00301070" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:49:13" "arrayCGH" "DNA" "" "Agilent 105K Whole Human Genome" "0000302193" "00301071" "1" "00006" "00006" "2020-05-06 17:20:53" "00006" "2020-05-06 18:55:54" "arrayCGH" "DNA" "" "Signature Genomics ChipOS" "0000302195" "00301073" "1" "00006" "00006" "2020-05-06 17:20:53" "" "" "arraySNP" "DNA" "" "" "0000302196" "00301074" "1" "00006" "00006" "2020-05-06 17:20:53" "" "" "arraySNP" "DNA" "" "" "0000434473" "00433042" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434544" "00433113" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434545" "00433114" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434556" "00433125" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000436943" "00435464" "1" "00006" "00006" "2023-07-31 11:19:02" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000445214" "00443721" "1" "04599" "04599" "2023-12-01 06:38:01" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000302174" "RUNX1" "0000302174" "SON" "0000302175" "RUNX1" "0000302175" "SON" "0000302184" "RUNX1" "0000302185" "RUNX1" "0000302186" "RUNX1" "0000302187" "RUNX1" "0000302188" "RUNX1" "0000302189" "RUNX1" "0000302190" "RUNX1" "0000302191" "RUNX1" "0000302192" "RUNX1" "0000302193" "RUNX1" "0000302195" "RUNX1" "0000302196" "RUNX1" "0000445214" "RUNX1" ## 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 = 77 "{{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}}" "0000079469" "0" "90" "21" "35304067" "36866011" "del" "0" "00006" "CLIC6_000001" "g.35304067_36866011del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000250006" "0" "10" "21" "36259324" "36259324" "subst" "0.0152738" "02329" "RUNX1_000008" "g.36259324A>G" "" "" "" "RUNX1(NM_001001890.2):c.86T>C (p.(Leu29Ser)), RUNX1(NM_001001890.3):c.86T>C (p.L29S), RUNX1(NM_001754.5):c.167T>C (p.L56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34887027A>G" "" "benign" "" "0000250866" "0" "10" "21" "36259324" "36259324" "subst" "0.0152738" "02326" "RUNX1_000008" "g.36259324A>G" "" "" "" "RUNX1(NM_001001890.2):c.86T>C (p.(Leu29Ser)), RUNX1(NM_001001890.3):c.86T>C (p.L29S), RUNX1(NM_001754.5):c.167T>C (p.L56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34887027A>G" "" "benign" "" "0000252598" "0" "90" "21" "36164828" "36164828" "subst" "0" "02326" "RUNX1_000002" "g.36164828A>C" "" "" "" "RUNX1(NM_001754.4):c.1047T>G (p.Y349*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34792531A>C" "" "pathogenic" "" "0000252768" "0" "50" "21" "36252941" "36252941" "subst" "0" "02326" "RUNX1_000007" "g.36252941A>G" "" "" "" "RUNX1(NM_001001890.3):c.340T>C (p.S114P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34880644A>G" "" "VUS" "" "0000301518" "0" "10" "21" "36421331" "36421331" "subst" "0" "02326" "RUNX1_000014" "g.36421331T>C" "" "" "" "RUNX1(NM_001754.4):c.-59-76A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35049034T>C" "" "benign" "" "0000301519" "0" "10" "21" "36164486" "36164486" "subst" "0.0310085" "02326" "RUNX1_000001" "g.36164486G>C" "" "" "" "RUNX1(NM_001001890.2):c.1308C>G (p.(=)), RUNX1(NM_001754.4):c.1389C>G (p.P463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34792189G>C" "" "benign" "" "0000301520" "0" "50" "21" "36231792" "36231792" "subst" "0" "02326" "RUNX1_000006" "g.36231792C>A" "" "" "" "RUNX1(NM_001001890.3):c.511G>T (p.D171Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34859495C>A" "" "VUS" "" "0000301521" "0" "50" "21" "36259347" "36259347" "subst" "0.00299266" "02326" "RUNX1_000009" "g.36259347G>A" "" "" "" "RUNX1(NM_001001890.3):c.63C>T (p.S21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34887050G>A" "" "VUS" "" "0000301522" "0" "50" "21" "36171607" "36171607" "subst" "0" "02326" "RUNX1_000004" "g.36171607G>A" "" "" "" "RUNX1(NM_001001890.3):c.877C>T (p.R293*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34799310G>A" "" "VUS" "" "0000307499" "0" "50" "21" "36206842" "36206842" "subst" "0" "01943" "RUNX1_000005" "g.36206842G>A" "" "" "" "RUNX1(NM_001001890.2):c.589C>T (p.R197W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34834545G>A" "" "VUS" "" "0000307500" "0" "30" "21" "36164870" "36164870" "subst" "0.000142636" "01943" "RUNX1_000003" "g.36164870C>A" "" "" "" "RUNX1(NM_001001890.2):c.924G>T (p.Q308H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34792573C>A" "" "likely benign" "" "0000345776" "0" "50" "21" "36252869" "36252869" "subst" "4.06154E-6" "02327" "RUNX1_000011" "g.36252869C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34880572C>T" "" "VUS" "" "0000351131" "0" "10" "21" "36164405" "36164405" "subst" "0.489128" "02327" "RUNX1_000010" "g.36164405G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34792108G>T" "" "benign" "" "0000570619" "0" "30" "21" "36164605" "36164605" "subst" "0" "01804" "RUNX1_000015" "g.36164605A>G" "" "" "" "RUNX1(NM_001001890.2):c.1189T>C (p.(Ser397Pro)), RUNX1(NM_001754.4):c.1270T>C (p.S424P), RUNX1(NM_001754.5):c.1270T>C (p.S424P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34792308A>G" "" "likely benign" "" "0000570620" "0" "70" "21" "36164687" "36164687" "del" "0" "02327" "RUNX1_000016" "g.36164687del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34792390del" "" "likely pathogenic" "" "0000570621" "0" "50" "21" "36164869" "36164869" "subst" "0" "01943" "RUNX1_000017" "g.36164869A>T" "" "" "" "RUNX1(NM_001001890.2):c.925T>A (p.F309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34792572A>T" "" "VUS" "" "0000570622" "0" "90" "21" "36164894" "36164894" "del" "0" "02325" "RUNX1_000018" "g.36164894del" "" "" "" "RUNX1(NM_001001890.3):c.900delG (p.T301Qfs*266)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34792597del" "" "pathogenic" "" "0000570624" "0" "90" "21" "36252853" "36252853" "subst" "0" "02327" "RUNX1_000020" "g.36252853C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34880556C>T" "" "pathogenic" "" "0000570625" "0" "30" "21" "36259125" "36259125" "subst" "0.00479745" "02325" "RUNX1_000021" "g.36259125T>C" "" "" "" "RUNX1(NM_001001890.3):c.270+15A>G, RUNX1(NM_001754.4):c.351+15A>G, RUNX1(NM_001754.5):c.351+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34886828T>C" "" "likely benign" "" "0000570626" "0" "70" "21" "36259172" "36259172" "subst" "0" "02327" "RUNX1_000022" "g.36259172G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34886875G>T" "" "likely pathogenic" "" "0000570627" "0" "30" "21" "36259324" "36259324" "subst" "0.0152738" "01804" "RUNX1_000008" "g.36259324A>G" "" "" "" "RUNX1(NM_001001890.2):c.86T>C (p.(Leu29Ser)), RUNX1(NM_001001890.3):c.86T>C (p.L29S), RUNX1(NM_001754.5):c.167T>C (p.L56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34887027A>G" "" "likely benign" "" "0000618358" "0" "30" "21" "36164603" "36164603" "subst" "0" "01943" "RUNX1_000023" "g.36164603C>G" "" "" "" "RUNX1(NM_001001890.2):c.1191G>C (p.S397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34792306C>G" "" "likely benign" "" "0000665282" "0" "90" "21" "31391467" "39118687" "del" "0" "00006" "SON_000059" "g.(?_31391467)_(39118687_?)del" "" "{PMID:Braddock 1994:07515754}, {PMID:Braddock 2016:27549381}" "" "h919 31,391,467–39,118,687del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665283" "0" "90" "21" "26968514" "36909426" "del" "0" "00006" "SON_000059" "g.(?_26968514)_(36909426_?)del" "" "{PMID:Braddock 1994:07515754}, {PMID:Braddock 2016:27549381}" "" "hg19 26,968,514–36,909,426del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665293" "0" "90" "21" "32560000" "35360000" "del" "0" "00006" "SON_000059" "g.(?_32560000)_(35360000_?)del" "" "{PMID:Thevenon 2011:21204219}" "" "del 32.56–35.36" "2.97 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665294" "0" "90" "21" "33360000" "37710000" "del" "0" "00006" "SON_000059" "g.(33280000_33360000)_(37710000_37750000)del" "" "{PMID:Katzaki 2010:20578134}" "" "hg18 (32.21_32.29)_(36.64_36.68)del" "4.47 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665295" "0" "90" "21" "34520000" "37430000" "del" "0" "00006" "SON_000059" "g.(34500000_34520000)_(37430000_37440000)del" "" "{PMID:Katzaki 2010:20578134}" "" "hg18 (33.43_33.45)_(36.36_36.37)del" "2.9 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665296" "0" "90" "21" "0" "0" "" "0" "00006" "SON_000059" "g.(35080000_35130000)_(39390000_39410000del)del" "" "{PMID:Katzaki 2010:20578134}" "" "hg18 (34.01_34.06)_(38.32_38.34)del" "4.3 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665297" "0" "90" "21" "35874000" "36585000" "del" "0" "00006" "SON_000059" "g.(?_35874000)_(36585000_?)del" "" "{PMID:Shinawi 2008:18487507}" "" "hg18 34,796-35,507del" "0.7 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665298" "0" "90" "21" "34911000" "36725000" "del" "0" "00006" "SON_000059" "g.(?_34911000)_(36725000_?)del" "" "{PMID:Shinawi 2008:18487507}" "" "hg18 33.833-35.647" "1.81 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665299" "0" "90" "21" "28276000" "47993000" "del" "0" "00006" "SON_000059" "g.(?_28276000)_(47993000_?)del" "" "{PMID:Shinawi 2008:18487507}" "" "hg18 27.198-46.915" "19.8 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665300" "0" "90" "21" "31772641" "38076708" "del" "0" "00006" "SON_000059" "g.(?_31772641)_(38076708_?)del" "" "{PMID:Byrd 2011:21204218}" "" "del 30694511-36998578" "6.3 Mb deletion" "De novo" "" "" "0" "" "46,XX,del(21)(q22.11q22.13)" "" "" "pathogenic (dominant)" "" "0000665301" "0" "90" "21" "36062272" "40038032" "del" "0" "00006" "SON_000059" "g.(?_36062272)_(40038032_?)del" "" "{PMID:Fujita 2010:20358607}" "" "46,XY.arr 21q22.12q22.2(34,984142‐38,959,902) × 1 dn" "3.97 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665302" "0" "90" "21" "23638893" "36848402" "del" "0" "00006" "SON_000059" "g.(?_23638893)_(36848402_?)del" "" "{PMID:Click 2011:21626672}" "" "hg18 22560763-35770272del" "13.2 Mb deletion" "De novo" "" "" "0" "" "46,XX,del(21)(q21.1q22.12)" "" "" "pathogenic (dominant)" "" "0000665304" "0" "90" "21" "34903055" "36320889" "del" "0" "00006" "SON_000059" "g.(?_34903055)_(36320889_?)del" "" "{PMID:Fukai 2014:24458657}" "" "del 33,824,925–35,242,759" "1.4 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000665305" "0" "90" "21" "36160098" "36421595" "del" "0" "00006" "SON_000059" "g.(?_36160098)_(36421595_?)del" "" "{PMID:Christensen 2013:23443295}" "" "" "3.1 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000693042" "0" "10" "21" "36164486" "36164486" "subst" "0.0310085" "01804" "RUNX1_000001" "g.36164486G>C" "" "" "" "RUNX1(NM_001001890.2):c.1308C>G (p.(=)), RUNX1(NM_001754.4):c.1389C>G (p.P463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727909" "0" "90" "21" "36171607" "36171607" "subst" "0" "02327" "RUNX1_000004" "g.36171607G>A" "" "" "" "RUNX1(NM_001001890.3):c.877C>T (p.R293*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727910" "0" "30" "21" "36206858" "36206858" "subst" "0.000492779" "01943" "RUNX1_000024" "g.36206858G>A" "" "" "" "RUNX1(NM_001001890.2):c.573C>T (p.S191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727911" "0" "90" "21" "36231782" "36231782" "subst" "0" "02327" "RUNX1_000025" "g.36231782C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727912" "0" "90" "21" "36252876" "36252877" "ins" "0" "02327" "RUNX1_000026" "g.36252876_36252877insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727913" "0" "50" "21" "36259296" "36259301" "del" "0" "02327" "RUNX1_000027" "g.36259296_36259301del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809386" "0" "50" "21" "36164605" "36164605" "subst" "0" "01943" "RUNX1_000015" "g.36164605A>G" "" "" "" "RUNX1(NM_001001890.2):c.1189T>C (p.(Ser397Pro)), RUNX1(NM_001754.4):c.1270T>C (p.S424P), RUNX1(NM_001754.5):c.1270T>C (p.S424P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866625" "0" "50" "21" "36164606" "36164606" "subst" "0.000723055" "01804" "RUNX1_000028" "g.36164606G>A" "" "" "" "RUNX1(NM_001001890.2):c.1188C>T (p.(Arg396=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866626" "0" "50" "21" "36252859" "36252859" "subst" "0" "02327" "RUNX1_000029" "g.36252859C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895472" "0" "90" "21" "36231774" "36231774" "subst" "0" "02327" "RUNX1_000031" "g.36231774G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895473" "0" "90" "21" "36231783" "36231783" "subst" "0" "02327" "RUNX1_000032" "g.36231783G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895474" "0" "50" "21" "36252849" "36252849" "subst" "8.12354E-6" "02327" "RUNX1_000033" "g.36252849C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915454" "0" "30" "21" "36259270" "36259270" "subst" "0" "02326" "RUNX1_000034" "g.36259270C>T" "" "" "" "RUNX1(NM_001001890.3):c.140G>A (p.G47D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920309" "1" "90" "21" "36252876" "36252877" "ins" "0" "00006" "RUNX1_000026" "g.36252876_36252877insT" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.34880579_34880580insT" "" "pathogenic" "ACMG" "0000920334" "1" "50" "21" "36164494" "36164494" "subst" "0" "00006" "RUNX1_000035" "g.36164494T>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "potential disease-modifying variant" "De novo" "" "" "0" "" "" "g.34792197T>C" "" "VUS" "ACMG" "0000920353" "10" "50" "21" "36171613" "36171613" "subst" "0.0009096" "00006" "RUNX1_000036" "g.36171613A>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "potential disease-modifying variant associated with acute myeloid leukemia" "Germline" "" "" "0" "" "" "g.34799316A>C" "" "VUS" "ACMG" "0000920354" "20" "50" "21" "36171613" "36171613" "subst" "0.0009096" "00006" "RUNX1_000036" "g.36171613A>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "potential disease-modifying variant associated with acute myeloid leukemia" "Germline" "" "" "0" "" "" "g.34799316A>C" "" "VUS" "ACMG" "0000927074" "0" "30" "21" "36164789" "36164789" "subst" "0.00018499" "02326" "RUNX1_000037" "g.36164789C>G" "" "" "" "RUNX1(NM_001001890.3):c.1005G>C (p.S335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927075" "0" "30" "21" "36171638" "36171638" "subst" "0.00266785" "02326" "RUNX1_000038" "g.36171638G>A" "" "" "" "RUNX1(NM_001001890.3):c.846C>T (p.G282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927076" "0" "90" "21" "36252866" "36252866" "subst" "0" "02327" "RUNX1_000039" "g.36252866G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927077" "0" "90" "21" "36259172" "36259172" "subst" "0" "02325" "RUNX1_000040" "g.36259172G>A" "" "" "" "RUNX1(NM_001754.4):c.319C>T (p.(Arg107Cys)), RUNX1(NM_001754.5):c.319C>T (p.R107C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931648" "11" "30" "21" "36171613" "36171613" "subst" "0.0009096" "00006" "RUNX1_000036" "g.36171613A>C" "" "{PMID:Sajan 2019:30478137}" "" "c.952T>G (S318A)" "" "Germline" "" "" "0" "" "" "g.34799316A>C" "" "likely benign" "" "0000951502" "0" "30" "21" "36164891" "36164891" "subst" "2.98193E-5" "02326" "RUNX1_000041" "g.36164891T>C" "" "" "" "RUNX1(NM_001001890.3):c.903A>G (p.T301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951503" "0" "50" "21" "36252986" "36252986" "subst" "0" "02327" "RUNX1_000043" "g.36252986C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951504" "0" "50" "21" "36259238" "36259238" "subst" "0" "02327" "RUNX1_000044" "g.36259238G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952116" "0" "90" "21" "36206890" "36206890" "subst" "0" "04599" "RUNX1_000042" "g.36206890G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.34834593G>A" "627101" "pathogenic" "EAHAD-CFDB" "0000970293" "0" "90" "21" "36231796" "36231796" "del" "0" "02327" "RUNX1_000045" "g.36231796del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970294" "0" "90" "21" "36252865" "36252865" "subst" "0" "02327" "RUNX1_000046" "g.36252865C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970295" "0" "30" "21" "36259125" "36259125" "subst" "0.00479745" "02326" "RUNX1_000021" "g.36259125T>C" "" "" "" "RUNX1(NM_001001890.3):c.270+15A>G, RUNX1(NM_001754.4):c.351+15A>G, RUNX1(NM_001754.5):c.351+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970296" "0" "30" "21" "36259125" "36259125" "subst" "0.00479745" "02329" "RUNX1_000021" "g.36259125T>C" "" "" "" "RUNX1(NM_001001890.3):c.270+15A>G, RUNX1(NM_001754.4):c.351+15A>G, RUNX1(NM_001754.5):c.351+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983969" "0" "30" "21" "36421116" "36421116" "subst" "0.0044471" "02329" "RUNX1_000047" "g.36421116T>C" "" "" "" "RUNX1(NM_001754.5):c.58+23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005720" "0" "50" "21" "36164610" "36164610" "subst" "0" "02325" "RUNX1_000048" "g.36164610T>G" "" "" "" "RUNX1(NM_001754.5):c.1265A>C (p.E422A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005721" "0" "70" "21" "36252854" "36252854" "subst" "0" "02327" "RUNX1_000049" "g.36252854C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005722" "0" "90" "21" "36259172" "36259172" "subst" "0" "01804" "RUNX1_000040" "g.36259172G>A" "" "" "" "RUNX1(NM_001754.4):c.319C>T (p.(Arg107Cys)), RUNX1(NM_001754.5):c.319C>T (p.R107C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001010228" "0" "50" "21" "36252850" "36252867" "dup" "0" "03779" "RUNX1_000050" "g.36252850_36252867dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001011431" "0" "50" "21" "36339165" "36339165" "subst" "0" "03779" "RUNX1_000051" "g.36339165T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1038542912" "0" "" "" "" "" "VUS" "" "0001015888" "0" "50" "21" "36164605" "36164605" "subst" "0" "02325" "RUNX1_000015" "g.36164605A>G" "" "" "" "RUNX1(NM_001001890.2):c.1189T>C (p.(Ser397Pro)), RUNX1(NM_001754.4):c.1270T>C (p.S424P), RUNX1(NM_001754.5):c.1270T>C (p.S424P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015889" "0" "30" "21" "36164610" "36164610" "subst" "0" "02325" "RUNX1_000052" "g.36164610T>C" "" "" "" "RUNX1(NM_001754.5):c.1265A>G (p.E422G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027342" "0" "30" "21" "36164600" "36164600" "subst" "0" "02329" "RUNX1_000053" "g.36164600C>G" "" "" "" "RUNX1(NM_001754.5):c.1275G>C (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030921" "0" "70" "21" "36252898" "36252898" "del" "0" "03779" "RUNX1_000054" "g.36252898del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RUNX1 ## Count = 77 "{{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}}" "0000079469" "00025335" "90" "-444606" "0" "861808" "0" "c.-444606_*860365del" "r.0?" "p.0?" "" "0000250006" "00025335" "10" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Leu56Ser)" "" "0000250866" "00025335" "10" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Leu56Ser)" "" "0000252598" "00025335" "90" "1047" "0" "1047" "0" "c.1047T>G" "r.(?)" "p.(Tyr349Ter)" "" "0000252768" "00025335" "50" "421" "0" "421" "0" "c.421T>C" "r.(?)" "p.(Ser141Pro)" "" "0000301518" "00025335" "10" "-59" "-76" "-59" "-76" "c.-59-76A>G" "r.(=)" "p.(=)" "" "0000301519" "00025335" "10" "1389" "0" "1389" "0" "c.1389C>G" "r.(?)" "p.(Pro463=)" "" "0000301520" "00025335" "50" "592" "0" "592" "0" "c.592G>T" "r.(?)" "p.(Asp198Tyr)" "" "0000301521" "00025335" "50" "144" "0" "144" "0" "c.144C>T" "r.(?)" "p.(Ser48=)" "" "0000301522" "00025335" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "0000307499" "00025335" "50" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Arg224Trp)" "" "0000307500" "00025335" "30" "1005" "0" "1005" "0" "c.1005G>T" "r.(?)" "p.(Gln335His)" "" "0000345776" "00025335" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Ser)" "" "0000351131" "00025335" "10" "1470" "0" "1470" "0" "c.*27C>A" "r.(=)" "p.(=)" "" "0000570619" "00025335" "30" "1270" "0" "1270" "0" "c.1270T>C" "r.(?)" "p.(Ser424Pro)" "" "0000570620" "00025335" "70" "1189" "0" "1189" "0" "c.1189del" "r.(?)" "p.(Gln397LysfsTer197)" "" "0000570621" "00025335" "50" "1006" "0" "1006" "0" "c.1006T>A" "r.(?)" "p.(Phe336Ile)" "" "0000570622" "00025335" "90" "981" "0" "981" "0" "c.981del" "r.(?)" "p.(Thr328GlnfsTer266)" "" "0000570624" "00025335" "90" "508" "1" "508" "1" "c.508+1G>A" "r.spl?" "p.?" "" "0000570625" "00025335" "30" "351" "15" "351" "15" "c.351+15A>G" "r.(=)" "p.(=)" "" "0000570626" "00025335" "70" "319" "0" "319" "0" "c.319C>A" "r.(?)" "p.(Arg107Ser)" "" "0000570627" "00025335" "30" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Leu56Ser)" "" "0000618358" "00025335" "30" "1272" "0" "1272" "0" "c.1272G>C" "r.(?)" "p.(Ser424=)" "" "0000665282" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665283" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665293" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665294" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665295" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665296" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665297" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665298" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665299" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665300" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665301" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665302" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665304" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000665305" "00025335" "90" "0" "0" "0" "0" "c.-190_*4334[0]" "r.0" "p.0" "" "0000693042" "00025335" "10" "1389" "0" "1389" "0" "c.1389C>G" "r.(?)" "p.(Pro463=)" "" "0000727909" "00025335" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "0000727910" "00025335" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Ser218=)" "" "0000727911" "00025335" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201Gln)" "" "0000727912" "00025335" "90" "485" "0" "486" "0" "c.485_486insA" "r.(?)" "p.(Phe163Valfs*50)" "" "0000727913" "00025335" "50" "191" "0" "196" "0" "c.191_196del" "r.(?)" "p.(Gly64_Ala65del)" "" "0000809386" "00025335" "50" "1270" "0" "1270" "0" "c.1270T>C" "r.(?)" "p.(Ser424Pro)" "" "0000866625" "00025335" "50" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Arg423=)" "" "0000866626" "00025335" "50" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Gly168Glu)" "" "0000895472" "00025335" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204*)" "" "0000895473" "00025335" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "" "0000895474" "00025335" "50" "508" "5" "508" "5" "c.508+5G>A" "r.spl?" "p.?" "" "0000915454" "00025335" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Gly74Asp)" "" "0000920309" "00025335" "90" "485" "0" "486" "0" "c.485_486insA" "r.(?)" "p.(Phe163ValfsTer50)" "5" "0000920334" "00025335" "50" "1381" "0" "1381" "0" "c.1381A>G" "r.(?)" "p.(Asn461Asp)" "9" "0000920353" "00025335" "50" "952" "0" "952" "0" "c.952T>G" "r.(?)" "p.(Ser318Ala)" "8" "0000920354" "00025335" "50" "952" "0" "952" "0" "c.952T>G" "r.(?)" "p.(Ser318Ala)" "8" "0000927074" "00025335" "30" "1086" "0" "1086" "0" "c.1086G>C" "r.(?)" "p.(Ser362=)" "" "0000927075" "00025335" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Gly309=)" "" "0000927076" "00025335" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166*)" "" "0000927077" "00025335" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Cys)" "" "0000931648" "00025335" "30" "952" "0" "952" "0" "c.952T>G" "r.(?)" "p.(Ser318Ala)" "" "0000951502" "00025335" "30" "984" "0" "984" "0" "c.984A>G" "r.(?)" "p.(=)" "" "0000951503" "00025335" "50" "376" "0" "376" "0" "c.376G>C" "r.(?)" "p.(Asp126His)" "" "0000951504" "00025335" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(His85Tyr)" "" "0000952116" "00025335" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Gln208*)" "" "0000970293" "00025335" "90" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Val197Trpfs*14)" "" "0000970294" "00025335" "90" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "" "0000970295" "00025335" "30" "351" "15" "351" "15" "c.351+15A>G" "r.(=)" "p.(=)" "" "0000970296" "00025335" "30" "351" "15" "351" "15" "c.351+15A>G" "r.(=)" "p.(=)" "" "0000983969" "00025335" "30" "58" "23" "58" "23" "c.58+23A>G" "r.(=)" "p.(=)" "" "0001005720" "00025335" "50" "1265" "0" "1265" "0" "c.1265A>C" "r.(?)" "p.(Glu422Ala)" "" "0001005721" "00025335" "70" "508" "0" "508" "0" "c.508G>C" "r.(?)" "p.(Gly170Arg)" "" "0001005722" "00025335" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Cys)" "" "0001010228" "00025335" "50" "495" "0" "508" "4" "c.495_508+4dup" "r.(?)" "p.(?)" "" "0001011431" "00025335" "50" "59" "-73905" "59" "-73905" "c.59-73905A>G" "r.(?)" "p.(?)" "" "0001015888" "00025335" "50" "1270" "0" "1270" "0" "c.1270T>C" "r.(?)" "p.(Ser424Pro)" "" "0001015889" "00025335" "30" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(Glu422Gly)" "" "0001027342" "00025335" "30" "1275" "0" "1275" "0" "c.1275G>C" "r.(?)" "p.(=)" "" "0001030921" "00025335" "70" "465" "0" "465" "0" "c.465del" "r.(?)" "p.(Ala156GlnfsTer20)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000050489" "0000079469" "0000302174" "0000665282" "0000302175" "0000665283" "0000302184" "0000665293" "0000302185" "0000665294" "0000302186" "0000665295" "0000302187" "0000665296" "0000302188" "0000665297" "0000302189" "0000665298" "0000302190" "0000665299" "0000302191" "0000665300" "0000302192" "0000665301" "0000302193" "0000665302" "0000302195" "0000665304" "0000302196" "0000665305" "0000434473" "0000920334" "0000434544" "0000920353" "0000434545" "0000920354" "0000434556" "0000920309" "0000436943" "0000931648" "0000445214" "0000952116"