RUNX1 (Q01196) variants and mutations
RUNX1 (also known as Q01196) is a human protein-coding gene encoding a runt-related transcription factor 1 protein. It controls hematopoietic stem-cell emergence and later megakaryocytic and myeloid differentiation through lineage-specific transcriptional programs. Germline loss-of-function variants cause familial platelet disorder with myeloid malignancy predisposition, while somatic mutations and fusions are common in leukemia. This analysis covers 1,893 RUNX1 variants and mutations. Of these, 45% have computational variant effect predictions. Disease context includes hereditary thrombocytopenia and hematological cancer predisposition syndrome ass, acute myeloid leukemia, and hereditary thrombocytopenia and hematologic cancer predisposition syndrome. Example RUNX1 variants include M1?, R2C, and R2G.
Variant analysis overview
- Gene: RUNX1
- Protein: Q01196
- UniProt accession: Q01196
- Organism: Homo sapiens
- Variants analyzed: 1893
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,659 unspecified-consequence records; 3 stop lost; 55 synonymous variants; 9 stop-gained variants; 23 frameshift variants; 129 missense variants; 7 in-frame deletions; 7 in-frame insertions; 1 substitution
- Prediction scores: 854 variants have prediction scores (45% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hereditary thrombocytopenia and hematological cancer predisposition syndrome ass, acute myeloid leukemia, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Thrombocytopenia, hereditary disease, asthma, Abnormal bleeding, androgenetic alopecia, rheumatoid arthritis, myeloproliferative disorder, acute myeloid leukemia with minimal differentiation, neurodegenerative disease.
Protein structure and variant hotspots
- Protein features: 1 domains; 4 binding sites; 13 post-translational modification sites.
- Structural context: 604 variants have structural context.
- PTM context: 49 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable RUNX1 variants
Examples include M1?, R2C, R2G, R2H, I3S, V5I, V5L, D6A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV55876
- R2C (p.Arg2Cys), rs1472759880, ClinGen CA410204352, ClinVar RCV002125762, ClinVar RCV005001289, CADD 22.10, SIFT 0.00, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R2G (p.Arg2Gly), gnomAD rs1472759880, Likely benign
- R2H (p.Arg2His), rs769876579, ExAC rs769876579, gnomAD rs769876579, CADD 21.90, SIFT 0.20, Variant assessed as somatic; moderate impact.
- I3S (p.Ile3Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V5I (p.Val5Ile), rs1053814127, ClinGen CA320642989, ClinVar RCV001392189, ClinVar RCV004692678, CADD 18.40, SIFT 0.03, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- V5L (p.Val5Leu), TOPMed rs1053814127, gnomAD rs1053814127, Likely benign
- D6A (p.Asp6Ala), Ensembl rs2146414611
- D6E (p.Asp6Glu), ExAC rs762090330, gnomAD rs762090330, Uncertain significance, Inborn genetic diseases
- D6G (p.Asp6Gly), Ensembl rs2146414611
- D6H (p.Asp6His), Ensembl rs2058006300, Pathogenic
- D6N (p.Asp6Asn), rs2058006300, ClinGen CA410204328, ClinVar RCV001270489, ClinVar RCV004692383, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- D6V (p.Asp6Val), Ensembl rs2146414611
- A7D (p.Ala7Asp), rs2058006183, ClinGen CA410204317, ClinVar RCV001970503, ClinVar RCV004774568, AlphaMissense 0.38, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A7G (p.Ala7Gly), rs2058006183, ClinGen CA410204316, ClinVar RCV003442624, ClinVar RCV004775401, AlphaMissense 0.38, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A7T (p.Ala7Thr), rs2517488716, ClinGen CA410204321, ClinVar RCV003514736, ClinVar RCV004775419, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A7V (p.Ala7Val), rs2058006183, ClinGen CA410204318, ClinVar RCV002008501, ClinVar RCV004734384, AlphaMissense 0.38, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S8N (p.Ser8Asn), rs1569084822, ClinGen CA410204312, ClinVar RCV000703143, ClinVar RCV004692176, AlphaMissense 0.17, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S8R (p.Ser8Arg), rs1569084817, ClinGen CA410204309, ClinVar RCV000812791, ClinVar RCV004773184, AlphaMissense 0.92, MetaLR 0.97, Uncertain significance, Inborn genetic diseases
- T9A (p.Thr9Ala), TOPMed rs2058006032
- T9M (p.Thr9Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T9R (p.Thr9Arg), rs2058005989, ClinGen CA410204303, ClinVar RCV001299153, ClinVar RCV005001194, AlphaMissense 0.67, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S10C (p.Ser10Cys), Ensembl rs2146414409
- S10G (p.Ser10Gly), Ensembl rs2146414409
- S10I (p.Ser10Ile), rs532264127, ClinGen CA10014591, ClinVar RCV001887400, ClinVar RCV002264831, AlphaMissense 0.11, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S10T (p.Ser10Thr), 1000Genomes rs532264127, ExAC rs532264127, gnomAD rs532264127, Uncertain significance
- R11C (p.Arg11Cys), gnomAD rs1462077131
- R11G (p.Arg11Gly), cosmic curated COSV10962, Uncertain significance, Inborn genetic diseases
- R11H (p.Arg11His), Ensembl rs2058005800, Uncertain significance, Inborn genetic diseases
- R11P (p.Arg11Pro), Ensembl rs2058005800
- R12C (p.Arg12Cys), rs1204043122, ClinGen CA410204280, ClinVar RCV001203215, ClinVar RCV004789471, AlphaMissense 0.97, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R12H (p.Arg12His), rs2058005645, ClinGen CA410204278, ClinVar RCV003514655, ClinVar RCV004775414, AlphaMissense 0.91, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- F13I (p.Phe13Ile), gnomAD rs1339574833
- T14A (p.Thr14Ala), rs2517488285, ClinGen CA410204256, ClinVar RCV003811848, ClinVar RCV004775511, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- T14K (p.Thr14Lys), ExAC rs769087155, TOPMed rs769087155, gnomAD rs769087155, Uncertain significance
- T14M (p.Thr14Met), rs769087155, ClinGen CA10014590, cosmic curated COSV55881, ClinVar RCV000818880, AlphaMissense 0.97, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P15L (p.Pro15Leu), rs2146414125, ClinGen CA410204236, ClinVar RCV003515754, ClinVar RCV004369052, AlphaMissense 0.97, MetaLR 0.99, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P15Q (p.Pro15Gln), rs2146414125, ClinGen CA410204234, ClinVar RCV001864583, ClinVar RCV004774493, AlphaMissense 0.97, MetaLR 0.99, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P15S (p.Pro15Ser), Ensembl rs2146414139
- P16S (p.Pro16Ser), rs1555899881, ClinGen CA410204228, cosmic curated COSV10587, ClinVar RCV000543395, AlphaMissense 0.91, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S17C (p.Ser17Cys), rs2517488157, ClinGen CA410204213, ClinVar RCV003630911, ClinVar RCV004719380, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- T18A (p.Thr18Ala), rs2517488127, ClinGen CA410204209, ClinVar RCV003024386, ClinVar RCV004736245, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- T18I (p.Thr18Ile), Ensembl rs2146414048
- A19P (p.Ala19Pro), Ensembl rs2058005288, Uncertain significance
- A19S (p.Ala19Ser), cosmic curated COSV10962
- A19T (p.Ala19Thr), rs2058005288, ClinGen CA410204199, ClinVar RCV001299743, ClinVar RCV004692437, AlphaMissense 0.30, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- L20P (p.Leu20Pro), ExAC rs770530237, gnomAD rs770530237, Uncertain significance
- L20Q (p.Leu20Gln), rs770530237, ClinGen CA10014588, ClinVar RCV001213519, ClinVar RCV002561816, AlphaMissense 0.40, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S21C (p.Ser21Cys), Ensembl rs2146413883
- S21G (p.Ser21Gly), Ensembl rs2146413883
- S21N (p.Ser21Asn), rs748720882, ClinGen CA10014586, ClinVar RCV003121511, ClinVar RCV003410261, AlphaMissense 0.27, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S21R (p.Ser21Arg), rs147889692, ClinGen CA410204142, ClinVar RCV003823654, ClinVar RCV005001448, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P22A (p.Pro22Ala), rs755793721, ClinGen CA10014584, ClinVar RCV003630340, ClinVar RCV004719372, AlphaMissense 0.09, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P22L (p.Pro22Leu), rs752298116, ClinGen CA10014583, cosmic curated COSV55881, ClinVar RCV001064297, AlphaMissense 0.28, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P22Q (p.Pro22Gln), cosmic curated COSV10027
- P22S (p.Pro22Ser), rs755793721, ClinGen CA410204137, ClinVar RCV003863398, ClinVar RCV005245556, AlphaMissense 0.09, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P22T (p.Pro22Thr), rs755793721, ClinGen CA320642967, ClinVar RCV001220776, ClinVar RCV004595580, AlphaMissense 0.09, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G23C (p.Gly23Cys), Ensembl rs2146413771
- G23D (p.Gly23Asp), rs2146413739, ClinGen CA410204124, ClinVar RCV001987239, ClinVar RCV004734359, AlphaMissense 0.86, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G23R (p.Gly23Arg), rs2146413771, ClinGen CA410204129, ClinVar RCV003516435, ClinVar RCV005001398, AlphaMissense 0.35, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G23V (p.Gly23Val), Ensembl rs2146413739, Uncertain significance
- K24M (p.Lys24Met), Ensembl rs2146413688
- K24N (p.Lys24Asn), rs780977528, ClinGen CA10014582, cosmic curated COSV55883, ClinVar RCV003121622, AlphaMissense 0.94, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M25I (p.Met25Ile), rs1555899861, ClinGen CA410204095, ClinVar RCV000639528, ClinVar RCV004773058, AlphaMissense 0.74, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M25K (p.Met25Lys), rs200431130, ClinGen CA10014581, cosmic curated COSV55868, ClinVar RCV000231931, AlphaMissense 0.74, MetaLR 0.97, Likely benign, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M25T (p.Met25Thr), ESP rs200431130, ExAC rs200431130, TOPMed rs200431130, gnomAD rs200431130, MetaLR 0.92, MetaSVM 0.91, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M25V (p.Met25Val), rs2517487761, ClinGen CA410204103, ClinVar RCV003514974, ClinVar RCV004723385, MetaLR 0.87, MetaSVM 0.51, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S26G (p.Ser26Gly), rs1601529435, ClinGen CA410204087, cosmic curated COSV10461, ClinVar RCV000794855, AlphaMissense 0.09, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S26N (p.Ser26Asn), ExAC rs751557379, gnomAD rs751557379
- S26R (p.Ser26Arg), Ensembl rs2146413517, Uncertain significance
- E27* (p.Glu27Ter), NCI-TCGA Cosmic COSV5586, NCI-TCGA Cosmic COSV5589, Ensembl rs2146413491, Uncertain significance
- E27G (p.Glu27Gly), Ensembl rs2058004521, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- E27K (p.Glu27Lys), rs2146413491, ClinGen CA410204071, NCI-TCGA Cosmic COSV5586, NCI-TCGA Cosmic COSV5589, AlphaMissense 0.87, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- E27Q (p.Glu27Gln), rs2146413491, ClinGen CA410204074, cosmic curated COSV55868, ClinVar RCV002047595, AlphaMissense 0.87, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- E27V (p.Glu27Val), rs2058004521, ClinGen CA410204065, ClinVar RCV002277734, ClinVar RCV004774645, AlphaMissense 0.54, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A28E (p.Ala28Glu), rs1473182680, ClinGen CA410204054, cosmic curated COSV10439, ClinVar RCV001143085, AlphaMissense 0.47, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A28T (p.Ala28Thr), gnomAD rs1184932175
- A28V (p.Ala28Val), gnomAD rs1473182680, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- L29* (p.Leu29Ter), 1000Genomes rs111527738, ESP rs111527738, ExAC rs111527738, TOPMed rs111527738, Benign
- L29F (p.Leu29Phe), ExAC rs750500258, gnomAD rs750500258
- L29S (p.Leu29Ser), rs111527738, ClinGen CA10014578, cosmic curated COSV55866, ClinVar RCV000226755, AlphaMissense 0.18, MetaLR 0.90, Benign, Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass
- L29W (p.Leu29Trp), 1000Genomes rs111527738, ESP rs111527738, ExAC rs111527738, TOPMed rs111527738, Benign
- P30L (p.Pro30Leu), rs1266842690, ClinGen CA410204032, ClinVar RCV000817782, ClinVar RCV001816903, AlphaMissense 0.48, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P30R (p.Pro30Arg), rs1266842690, ClinGen CA410204028, ClinVar RCV000791802, ClinVar RCV004773143, AlphaMissense 0.48, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P30S (p.Pro30Ser), TOPMed rs2058004044, Uncertain significance, Inborn genetic diseases
- L31P (p.Leu31Pro), cosmic curated COSV55887, Ensembl rs1569084593
- L31Q (p.Leu31Gln), Ensembl rs1569084593
- G32C (p.Gly32Cys), Ensembl rs1601529342
- G32D (p.Gly32Asp), TOPMed rs1482518887, gnomAD rs1482518887, Uncertain significance, Inborn genetic diseases
- A33P (p.Ala33Pro), rs1254381316, ClinGen CA410204003, ClinVar RCV001297178, ClinVar RCV004734101, AlphaMissense 0.07, MetaLR 0.91, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A33S (p.Ala33Ser), TOPMed rs1254381316, gnomAD rs1254381316, Uncertain significance
- A33T (p.Ala33Thr), TOPMed rs1254381316, gnomAD rs1254381316, Uncertain significance
- A33V (p.Ala33Val), rs765314703, ClinGen CA10014576, cosmic curated COSV55876, ClinVar RCV000556930, AlphaMissense 0.08, MetaLR 0.86, Benign, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P34A (p.Pro34Ala), cosmic curated COSV10027, ExAC rs776929941, gnomAD rs776929941, Uncertain significance, Inborn genetic diseases
- P34L (p.Pro34Leu), rs769213771, ClinGen CA10014573, cosmic curated COSV10461, ClinVar RCV000639515, AlphaMissense 0.19, MetaLR 0.90, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P34Q (p.Pro34Gln), ExAC rs769213771, TOPMed rs769213771, gnomAD rs769213771, Uncertain significance
- P34R (p.Pro34Arg), rs769213771, ClinGen CA410203987, ClinVar RCV002686013, ClinVar RCV004694246, AlphaMissense 0.19, MetaLR 0.90, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P34S (p.Pro34Ser), rs776929941, ClinGen CA10014574, ClinVar RCV001972210, ClinVar RCV004571658, AlphaMissense 0.04, MetaLR 0.82, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- P34T (p.Pro34Thr), rs776929941, ClinGen CA410203993, ClinVar RCV001976768, ClinVar RCV004774581, AlphaMissense 0.04, MetaLR 0.82, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- D35A (p.Asp35Ala), Ensembl rs2146412816, Uncertain significance
- D35E (p.Asp35Glu), rs886450546, ClinGen CA320642855, ClinVar RCV002046446, ClinVar RCV004734404, AlphaMissense 0.08, MetaLR 0.80, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- D35G (p.Asp35Gly), rs2146412816, ClinGen CA410203979, ClinVar RCV002627727, ClinVar RCV004694242, AlphaMissense 0.16, MetaLR 0.91, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- D35H (p.Asp35His), Ensembl rs2146412863
- D35N (p.Asp35Asn), Ensembl rs2146412863
- D35V (p.Asp35Val), Ensembl rs2146412816, Uncertain significance
- D35Y (p.Asp35Tyr), Ensembl rs2146412863
- A36G (p.Ala36Gly), ExAC rs776111803, TOPMed rs776111803, gnomAD rs776111803, Uncertain significance
- A36T (p.Ala36Thr), gnomAD rs1407760784
- A36V (p.Ala36Val), rs776111803, ClinGen CA10014572, cosmic curated COSV55876, ClinVar RCV003405793, AlphaMissense 0.09, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G37D (p.Gly37Asp), cosmic curated COSV55872, Ensembl rs2058003086
- G37S (p.Gly37Ser), rs937170536, ClinGen CA320642849, cosmic curated COSV10461, ClinVar RCV001042926, AlphaMissense 0.06, MetaLR 0.88, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G37V (p.Gly37Val), Ensembl rs2058003086
- A38P (p.Ala38Pro), rs2146412555, ClinGen CA410203954, ClinVar RCV003630236, ClinVar RCV004701769, AlphaMissense 0.10, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A38S (p.Ala38Ser), Ensembl rs2146412555, Uncertain significance
- A38T (p.Ala38Thr), rs2146412555, ClinGen CA410203952, ClinVar RCV003630183, ClinVar RCV004775458, AlphaMissense 0.10, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A38V (p.Ala38Val), rs2058002974, ClinGen CA410203945, ClinVar RCV001948131, ClinVar RCV003471053, AlphaMissense 0.08, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A39D (p.Ala39Asp), rs2146412392, ClinGen CA410203938, ClinVar RCV002954039, ClinVar RCV005001332, AlphaMissense 0.09, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A39G (p.Ala39Gly), Ensembl rs2146412392
- A39S (p.Ala39Ser), Ensembl rs2146412428, Uncertain significance
- A39T (p.Ala39Thr), rs2146412428, ClinGen CA410203944, ClinVar RCV003629895, ClinVar RCV005001439, AlphaMissense 0.07, MetaLR 0.93, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- A39V (p.Ala39Val), cosmic curated COSV55869, Ensembl rs2146412392, Uncertain significance, Inborn genetic diseases
- L40M (p.Leu40Met), Ensembl rs2146412336
- L40P (p.Leu40Pro), gnomAD rs1457506678
- L40R (p.Leu40Arg), gnomAD rs1457506678
- A41G (p.Ala41Gly), NCI-TCGA Cosmic COSV5589, Variant assessed as somatic; moderate impact.
- A41P (p.Ala41Pro), Ensembl rs2146412218
- A41S (p.Ala41Ser), Ensembl rs2146412218
- A41T (p.Ala41Thr), cosmic curated COSV55878, Ensembl rs2146412218
- A41V (p.Ala41Val), cosmic curated COSV55891, Ensembl rs927005033, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G42A (p.Gly42Ala), ExAC rs769235124, gnomAD rs769235124, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G42C (p.Gly42Cys), ExAC rs777168865, TOPMed rs777168865, gnomAD rs777168865, Uncertain significance, Inborn genetic diseases
- G42D (p.Gly42Asp), rs769235124, ClinGen CA410203907, ClinVar RCV001373342, ClinVar RCV004774438, AlphaMissense 0.16, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G42R (p.Gly42Arg), rs777168865, ClinGen CA10014569, cosmic curated COSV55868, ClinVar RCV000533883, AlphaMissense 0.07, MetaLR 0.93, Benign, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G42S (p.Gly42Ser), rs777168865, ClinGen CA320642805, ClinVar RCV001219241, ClinVar RCV002293511, AlphaMissense 0.07, MetaLR 0.93, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G42V (p.Gly42Val), rs769235124, ClinGen CA10014568, ClinVar RCV003047973, ClinVar RCV004595682, AlphaMissense 0.16, MetaLR 0.97, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- K43* (p.Lys43Ter), Ensembl rs2146412055
- K43M (p.Lys43Met), gnomAD rs1411791016, Uncertain significance
- K43N (p.Lys43Asn), NCI-TCGA TCGA novel, Ensembl rs2146411984, cosmic curated COSV10605, Likely benign
- K43R (p.Lys43Arg), rs1411791016, ClinGen CA410203895, ClinVar RCV001971145, ClinVar RCV004774577, AlphaMissense 0.51, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- K43T (p.Lys43Thr), rs1411791016, ClinGen CA410203897, ClinVar RCV001936461, ClinVar RCV004734350, AlphaMissense 0.51, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- L44M (p.Leu44Met), cosmic curated COSV55887, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- L44P (p.Leu44Pro), Ensembl rs2146411924
- L44V (p.Leu44Val), rs2146411952, ClinGen CA410203889, ClinVar RCV002655048, ClinVar RCV004572807, AlphaMissense 0.10, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R45G (p.Arg45Gly), Ensembl rs2146411839
- R45K (p.Arg45Lys), Ensembl rs2146411816
- R45M (p.Arg45Met), Ensembl rs2146411816
- R45W (p.Arg45Trp), Ensembl rs2146411839
- S46C (p.Ser46Cys), Ensembl rs2146411773, Uncertain significance
- S46G (p.Ser46Gly), rs2146411773, ClinGen CA410203877, ClinVar RCV001878006, ClinVar RCV004719190, AlphaMissense 0.05, MetaLR 0.89, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- S46I (p.Ser46Ile), Ensembl rs2146411755
- S46R (p.Ser46Arg), rs1157495777, ClinGen CA410203871, ClinVar RCV001341123, ClinVar RCV005001206, AlphaMissense 0.61, MetaLR 0.91, Uncertain significance, Inborn genetic diseases
- G47A (p.Gly47Ala), Ensembl rs2146411670
- G47D (p.Gly47Asp), Ensembl rs2146411670, Uncertain significance, Inborn genetic diseases
- G47R (p.Gly47Arg), rs1435268371, ClinGen CA410203869, ClinVar RCV000804342, ClinVar RCV004693310, AlphaMissense 0.47, MetaLR 0.90, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- G47V (p.Gly47Val), rs2146411670, ClinGen CA410203867, ClinVar RCV002663322, ClinVar RCV005001313, AlphaMissense 0.36, MetaLR 0.85, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- D48A (p.Asp48Ala), Ensembl rs2146411550
- D48E (p.Asp48Glu), ExAC rs747801893, gnomAD rs747801893, Likely benign
- D48N (p.Asp48Asn), Ensembl rs2058001847, Uncertain significance
- D48V (p.Asp48Val), Ensembl rs2146411550
- D48Y (p.Asp48Tyr), rs2058001847, ClinGen CA410203862, cosmic curated COSV55870, ClinVar RCV001206257, AlphaMissense 0.23, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R49C (p.Arg49Cys), rs1487924415, ClinGen CA410203854, ClinVar RCV000699282, ClinVar RCV004773109, AlphaMissense 0.79, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R49G (p.Arg49Gly), gnomAD rs1487924415, Uncertain significance
- R49H (p.Arg49His), rs780816315, ClinGen CA10014566, cosmic curated COSV55882, ClinVar RCV001916987, AlphaMissense 0.78, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R49L (p.Arg49Leu), ExAC rs780816315, gnomAD rs780816315, Uncertain significance
- R49P (p.Arg49Pro), rs780816315, ClinGen CA410203853, ClinVar RCV003118945, ClinVar RCV003410262, AlphaMissense 0.78, MetaLR 0.98, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- R49S (p.Arg49Ser), gnomAD rs1487924415, Uncertain significance
- S50C (p.Ser50Cys), Ensembl rs2146411364
- S50G (p.Ser50Gly), cosmic curated COSV55892, Uncertain significance, Inborn genetic diseases
- S50I (p.Ser50Ile), gnomAD rs1209984367
- S50N (p.Ser50Asn), gnomAD rs1209984367
- S50R (p.Ser50Arg), TOPMed rs1329847140, gnomAD rs1329847140, cosmic curated COSV55888, Likely benign
- S50T (p.Ser50Thr), gnomAD rs1209984367
- M51I (p.Met51Ile), rs2146411164, ClinGen CA410203838, ClinVar RCV001371450, ClinVar RCV004774436, AlphaMissense 0.60, MetaLR 0.94, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M51K (p.Met51Lys), Ensembl rs2058001205, Uncertain significance
- M51L (p.Met51Leu), rs878854467, ClinGen CA10583885, ClinVar RCV000229612, ClinVar RCV004595496, AlphaMissense 0.08, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M51R (p.Met51Arg), Ensembl rs2058001205, Uncertain significance
- M51T (p.Met51Thr), rs2058001205, ClinGen CA410203840, ClinVar RCV001065607, ClinVar RCV004720061, AlphaMissense 0.92, MetaLR 0.96, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- M51V (p.Met51Val), rs878854467, ClinGen CA410203842, ClinVar RCV001339098, ClinVar RCV005001202, AlphaMissense 0.08, MetaLR 0.92, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- V52A (p.Val52Ala), rs1601529045, ClinGen CA410203831, ClinVar RCV001994136, ClinVar RCV004774582, AlphaMissense 0.21, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- V52E (p.Val52Glu), rs1601529045, ClinGen CA410203832, ClinVar RCV001066864, ClinVar RCV004570281, AlphaMissense 0.21, MetaLR 0.95, Uncertain significance, Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass
Public RUNX1 analysis runs
- RUNX1 analysis run — RUNX1 (1,893 variants) — completed 2026-08-19