GATA2 (P23769) variants and mutations
GATA2 (also known as P23769) is a human protein-coding gene encoding an endothelial transcription factor GATA-2 protein. It maintains hematopoietic stem and progenitor cells and directs development of monocytes, dendritic cells, NK cells, and other blood lineages. Haploinsufficiency causes GATA2 deficiency with immunodeficiency, cytopenias, and high risk of myelodysplastic syndrome or AML. This analysis covers 1,316 GATA2 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes monocytopenia with susceptibility to infections, Deafness - lymphedema - leukemia, and myelodysplastic syndrome. Example GATA2 variants include M1?, M1R, and E2Q.
Variant analysis overview
- Gene: GATA2
- Protein: P23769
- UniProt accession: P23769
- Organism: Homo sapiens
- Variants analyzed: 1316
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,145 unspecified-consequence records; 1 stop lost; 41 missense variants; 115 synonymous variants; 2 frameshift variants; 2 in-frame deletions; 4 splice-region variants; 2 in-frame insertions; 3 substitution
- Prediction scores: 1,102 variants have prediction scores (84% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: monocytopenia with susceptibility to infections, Deafness - lymphedema - leukemia, myelodysplastic syndrome, deafness-lymphedema-leukemia syndrome, acute myeloid leukemia, GATA2 deficiency with susceptibility to MDS/AML, leukemia, acute myeloid, susceptibility to, neurodegenerative disease, prostate carcinoma, hereditary disease, severe congenital neutropenia, chronic myelogenous leukemia, BCR-ABL1 positive.
Protein structure and variant hotspots
- Protein features: 3 post-translational modification sites.
- PTM context: 9 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 GATA2 variants
Examples include M1?, M1R, E2Q, V3A, V3L, V3M, A4E, P5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV62007
- M1R (p.Met1Arg), rs1279121108, ClinGen CA354409370, ClinVar RCV003790987, MetaLR 0.90, MetaSVM 0.98, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- E2Q (p.Glu2Gln), rs2107673807, ClinGen CA354409364, ClinVar RCV001940043, Ensembl rs2107673807, AlphaMissense 0.50, MetaLR 0.93, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- V3A (p.Val3Ala), rs1220018679, ClinGen CA354409342, ClinVar RCV001036387, ClinVar RCV004973248, REVEL 0.68, CADD 24.80, Conflicting interpretations, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- V3L (p.Val3Leu), cosmic curated COSV62005, Uncertain significance, Acute myeloid leukemia
- V3M (p.Val3Met), rs2107673805, ClinGen CA354409346, ClinVar RCV002050478, Ensembl rs2107673805, REVEL 0.73, CADD 25.40, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A4E (p.Ala4Glu), rs1576750043, ClinGen CA354409327, ClinVar RCV000803337, ClinVar RCV005841637, REVEL 0.76, CADD 29.90, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P5L (p.Pro5Leu), rs2472935326, ClinGen CA2580068701, ClinVar RCV003046832, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P5R (p.Pro5Arg), ExAC rs17851306, gnomAD rs17851306, REVEL 0.45, CADD 26.10, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- E6* (p.Glu6Ter), cosmic curated COSV62004, CADD 41.00
- E6G (p.Glu6Gly), Ensembl rs2068711666, REVEL 0.48, CADD 25.70
- E6K (p.Glu6Lys), rs760132552, ClinGen CA354409314, ClinVar RCV000556049, ExAC rs760132552, AlphaMissense 0.71, MetaLR 0.80, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- E6Q (p.Glu6Gln), rs1576750018, ClinGen CA915941571, ClinVar RCV000812513, ClinVar RCV005328407, REVEL 0.47, AlphaMissense 0.71, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- Q7H (p.Gln7His), gnomAD rs1452320871, REVEL 0.76, CADD 26.20
- Q7R (p.Gln7Arg), rs2472935244, ClinGen CA354409283, ClinVar RCV002303134, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P8L (p.Pro8Leu), rs771557922, ClinGen CA354409268, ClinVar RCV001060401, ExAC rs771557922, REVEL 0.82, CADD 26.90, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P8Q (p.Pro8Gln), rs771557922, ClinGen CA2600123, cosmic curated COSV10590, ClinVar RCV000531890, REVEL 0.82, CADD 31.00, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- P8R (p.Pro8Arg), rs771557922, ClinGen CA354409265, ClinVar RCV001294996, ClinVar RCV004987028, REVEL 0.74, CADD 25.40, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P8S (p.Pro8Ser), ExAC rs772886955, TOPMed rs772886955, gnomAD rs772886955
- P8T (p.Pro8Thr), ExAC rs772886955, TOPMed rs772886955, gnomAD rs772886955, REVEL 0.62, CADD 22.60
- R9C (p.Arg9Cys), rs1436974541, ClinGen CA354409261, ClinVar RCV001360087, gnomAD rs1436974541, REVEL 0.94, CADD 32.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- R9H (p.Arg9His), rs1392814696, ClinGen CA354409256, ClinVar RCV003815355, TOPMed rs1392814696, REVEL 0.86, CADD 26.30, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- R9L (p.Arg9Leu), TOPMed rs1392814696, gnomAD rs1392814696, REVEL 0.93, CADD 32.00, Uncertain significance, Inborn genetic diseases
- R9S (p.Arg9Ser), gnomAD rs1436974541, REVEL 0.85, CADD 29.80, Uncertain significance
- W10* (p.Trp10Ter), cosmic curated COSV10606
- W10C (p.Trp10Cys), rs367785289, cosmic curated COSV62004, ClinGen CA2600122, ClinVar RCV000551947, REVEL 0.95, CADD 32.00, Conflicting interpretations, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- W10L (p.Trp10Leu), rs2472935209, ClinGen CA354409241, ClinVar RCV003805977, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- W10R (p.Trp10Arg), rs1576749993, ClinGen CA354409249, ClinVar RCV000813153, Ensembl rs1576749993, AlphaMissense 0.99, MetaLR 0.98, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- M11V (p.Met11Val), rs774005466, ClinGen CA2600121, ClinVar RCV001886544, ClinVar RCV004975754, REVEL 0.48, CADD 21.40, Conflicting interpretations, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A12E (p.Ala12Glu), rs1263269900, ClinGen CA354409208, ClinVar RCV003238718, TOPMed rs1263269900, REVEL 0.54, CADD 24.40, Uncertain significance, not provided
- A12T (p.Ala12Thr), rs2107673742, ClinGen CA354409210, ClinVar RCV002041560, Ensembl rs2107673742, REVEL 0.45, CADD 22.50, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A12V (p.Ala12Val), TOPMed rs1263269900, gnomAD rs1263269900, REVEL 0.49, CADD 24.60, Uncertain significance, Inborn genetic diseases
- H13L (p.His13Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H13P (p.His13Pro), gnomAD rs1485533975, MetaLR 0.90, MetaSVM 0.89
- H13Q (p.His13Gln), rs2068711214, ClinGen CA354409185, ClinVar RCV001049039, Ensembl rs2068711214, REVEL 0.87, CADD 22.80, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- H13R (p.His13Arg), gnomAD rs1485533975, REVEL 0.88, CADD 24.00
- P14L (p.Pro14Leu), ExAC rs780089207, gnomAD rs780089207, REVEL 0.58, AlphaMissense 0.35, Uncertain significance
- P14Q (p.Pro14Gln), rs780089207, ClinGen CA354409176, ClinVar RCV003804402, AlphaMissense 0.35, MetaLR 0.79, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P14R (p.Pro14Arg), rs780089207, ClinGen CA2600118, ClinVar RCV002040715, ClinVar RCV006368124, REVEL 0.54, AlphaMissense 0.35, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- P14S (p.Pro14Ser), rs749214277, ClinGen CA2600119, ClinVar RCV000807890, ClinVar RCV004721624, REVEL 0.43, AlphaMissense 0.08, Conflicting interpretations, not provided; Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscepti
- P14T (p.Pro14Thr), rs749214277, ClinGen CA354409180, ClinVar RCV002824478, AlphaMissense 0.08, MetaLR 0.79, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A15D (p.Ala15Asp), rs2068710977, ClinGen CA354409165, ClinVar RCV001347791, Ensembl rs2068710977, REVEL 0.77, CADD 31.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A15P (p.Ala15Pro), rs1413920280, ClinGen CA354409169, ClinVar RCV003023145, AlphaMissense 0.12, MetaLR 0.91, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- A15T (p.Ala15Thr), rs1413920280, ClinGen CA354409167, ClinVar RCV002301827, gnomAD rs1413920280, REVEL 0.60, AlphaMissense 0.12, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- A15V (p.Ala15Val), cosmic curated COSV62005, REVEL 0.74, CADD 26.20
- V16G (p.Val16Gly), rs2472935059, ClinGen CA354409157, ClinVar RCV003063924, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- V16L (p.Val16Leu), ExAC rs781485787, TOPMed rs781485787, gnomAD rs781485787, REVEL 0.56, CADD 22.50, Uncertain significance
- V16M (p.Val16Met), rs781485787, ClinGen CA2600115, ClinVar RCV001038330, ClinVar RCV003153899, REVEL 0.49, CADD 23.10, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- L17M (p.Leu17Met), rs752025757, ClinGen CA354409156, cosmic curated COSV99049, ClinVar RCV001364936, REVEL 0.64, CADD 21.30, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- L17Q (p.Leu17Gln), rs777965976, ClinGen CA2600112, ClinVar RCV000649499, ClinVar RCV005422923, REVEL 0.85, CADD 32.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A19E (p.Ala19Glu), gnomAD rs1361789790, REVEL 0.43, CADD 22.50, Uncertain significance, Inborn genetic diseases
- A19V (p.Ala19Val), rs1361789790, ClinVar RCV004576664, ClinVar RCV005844359, NCI-TCGA TCGA novel, REVEL 0.44, CADD 24.40, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- Q20* (p.Gln20Ter), rs2107673689, ClinGen CA354409121, ClinVar RCV001542101, ClinVar RCV005429354, Pathogenic
- Q20P (p.Gln20Pro), rs1303947441, ClinGen CA354409117, ClinVar RCV000697049, gnomAD rs1303947441, REVEL 0.79, CADD 26.80, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Q20R (p.Gln20Arg), gnomAD rs1303947441, REVEL 0.75, CADD 29.90, Uncertain significance, Inborn genetic diseases
- H21L (p.His21Leu), rs1576749923, ClinGen CA354409096, ClinVar RCV000810657, ClinVar RCV005338379, REVEL 0.84, CADD 32.00, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- H21Q (p.His21Gln), rs535362527, ClinGen CA2600111, ClinVar RCV001050933, ClinVar RCV005572439, REVEL 0.76, CADD 27.30, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- H21Y (p.His21Tyr), rs1416953141, ClinGen CA354409102, ClinVar RCV003130990, ClinVar RCV003778701, AlphaMissense 0.31, MetaLR 0.96, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P22A (p.Pro22Ala), rs1172590651, ClinGen CA354409089, ClinVar RCV001326780, ClinVar RCV005340792, REVEL 0.69, CADD 23.90, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- P22H (p.Pro22His), rs1430054108, ClinGen CA354409085, ClinVar RCV001947287, gnomAD rs1430054108, REVEL 0.80, CADD 32.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P22L (p.Pro22Leu), rs1430054108, ClinGen CA354409081, ClinVar RCV001303784, ClinVar RCV004774386, REVEL 0.84, CADD 26.30, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P22R (p.Pro22Arg), rs1430054108, ClinGen CA354409083, ClinVar RCV000548083, gnomAD rs1430054108, REVEL 0.87, CADD 31.00, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P22S (p.Pro22Ser), rs1172590651, ClinGen CA354409087, ClinVar RCV001038352, ClinVar RCV003461440, REVEL 0.62, CADD 23.20, Uncertain significance, Acute myeloid leukemia; Monocytopenia with susceptibility to infections; Deafnes
- P22T (p.Pro22Thr), rs1172590651, ClinGen CA354409091, ClinVar RCV000984845, ClinVar RCV002549630, REVEL 0.76, CADD 24.10, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- D23N (p.Asp23Asn), rs760183425, ClinGen CA2600108, ClinVar RCV001367548, ClinVar RCV004980387, REVEL 0.52, AlphaMissense 0.56, Conflicting interpretations, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- D23V (p.Asp23Val), Ensembl rs1376723906
- D23Y (p.Asp23Tyr), rs760183425, ClinGen CA354409070, ClinVar RCV001231837, ExAC rs760183425, AlphaMissense 0.56, MetaLR 0.93, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- S24L (p.Ser24Leu), rs2068710194, ClinGen CA354409047, ClinVar RCV001065596, ClinVar RCV005338555, REVEL 0.51, CADD 26.00, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- S24P (p.Ser24Pro), cosmic curated COSV10590
- H25P (p.His25Pro), gnomAD rs2878322, MetaLR 0.92, MetaSVM 1.02
- H25Q (p.His25Gln), rs1190021538, ClinGen CA354409033, ClinVar RCV001370440, ClinVar RCV004774433, REVEL 0.67, CADD 25.40, Uncertain significance, Inborn genetic diseases; not provided; Deafness-lymphedema-leukemia syndrome
- H25R (p.His25Arg), gnomAD rs2878322, REVEL 0.81, CADD 29.40
- H25Y (p.His25Tyr), ExAC rs749879020, gnomAD rs749879020, REVEL 0.79, CADD 31.00
- H26D (p.His26Asp), gnomAD rs1576749889, REVEL 0.80, CADD 32.00, Uncertain significance, Inborn genetic diseases
- H26N (p.His26Asn), rs1576749889, ClinGen CA354409031, ClinVar RCV000818581, ClinVar RCV005831686, REVEL 0.74, CADD 31.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- H26P (p.His26Pro), rs2472934869, ClinGen CA354409025, ClinVar RCV003781025, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- H26Q (p.His26Gln), rs767260206, ClinGen CA2600106, ClinVar RCV001946340, ClinVar RCV005343173, REVEL 0.71, CADD 23.90, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- H26Y (p.His26Tyr), rs1576749889, ClinGen CA354409027, ClinVar RCV003804774, REVEL 0.82, CADD 31.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P27L (p.Pro27Leu), rs2068709954, ClinGen CA354409001, ClinVar RCV003801975, ClinVar RCV005844311, REVEL 0.40, AlphaMissense 0.14, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- P27R (p.Pro27Arg), rs2068709954, ClinGen CA354408997, ClinVar RCV003803050, AlphaMissense 0.14, MetaLR 0.85, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P27S (p.Pro27Ser), rs2472934854, ClinGen CA354409004, ClinVar RCV003990443, Likely benign, Monocytopenia with susceptibility to infections
- G28D (p.Gly28Asp), rs2472934837, ClinGen CA354408983, ClinVar RCV002771497, ClinVar RCV005343497, REVEL 0.75, CADD 24.40, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- G28S (p.Gly28Ser), rs2472934843, ClinGen CA354408993, ClinVar RCV002914211, ClinVar RCV005844126, REVEL 0.55, CADD 22.90, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- L29V (p.Leu29Val), rs2068709828, ClinGen CA354408972, ClinVar RCV002710174, ClinVar RCV003464588, AlphaMissense 0.11, MetaLR 0.92, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- A30E (p.Ala30Glu), TOPMed rs2068709750
- A30P (p.Ala30Pro), cosmic curated COSV62007
- A30T (p.Ala30Thr), rs774249703, ClinGen CA2600104, ClinVar RCV002018348, ClinVar RCV005331150, REVEL 0.30, CADD 22.80, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- H31L (p.His31Leu), rs1225259829, ClinGen CA354408930, ClinVar RCV001365643, ClinVar RCV005340845, REVEL 0.94, CADD 31.00, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- H31Q (p.His31Gln), rs1010470274, ClinGen CA83372437, ClinVar RCV001365270, TOPMed rs1010470274, REVEL 0.78, CADD 24.00, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- H31Y (p.His31Tyr), rs2107673607, ClinGen CA354408938, cosmic curated COSV10966, ClinVar RCV002040544, AlphaMissense 0.24, MetaLR 0.95, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- N32S (p.Asn32Ser), rs1237254296, ClinGen CA354408919, ClinVar RCV002577700, ClinVar RCV005333260, REVEL 0.38, CADD 18.00, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Y33* (p.Tyr33Ter), rs2472934740, ClinGen CA354408897, ClinVar RCV002834496, ClinVar RCV005239516, Pathogenic
- Y33C (p.Tyr33Cys), rs2472934745, ClinGen CA354408902, ClinVar RCV002720427, REVEL 0.94, CADD 32.00, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- M34I (p.Met34Ile), rs2107673586, ClinGen CA354408883, ClinVar RCV002257023, Ensembl rs2107673586, REVEL 0.74, CADD 23.10, Uncertain significance, not provided
- M34L (p.Met34Leu), rs762794939, ClinGen CA2600102, ClinVar RCV001224015, ClinVar RCV004778012, REVEL 0.71, CADD 23.40, Uncertain significance, Inborn genetic diseases; not provided; Monocytopenia with susceptibility to infe
- M34R (p.Met34Arg), rs1576749857, ClinGen CA354408886, ClinVar RCV001147498, ClinVar RCV005562574, REVEL 0.91, AlphaMissense 0.40, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Inborn genetic diseases
- M34T (p.Met34Thr), rs1576749857, ClinGen CA354408889, ClinVar RCV000808230, Ensembl rs1576749857, AlphaMissense 0.40, MetaLR 0.94, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- M34V (p.Met34Val), rs762794939, ClinGen CA354408893, ClinVar RCV001361720, ClinVar RCV004779096, REVEL 0.76, CADD 22.60, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- E35D (p.Glu35Asp), rs2107673579, ClinGen CA354408863, ClinVar RCV001878855, Ensembl rs2107673579, AlphaMissense 0.19, MetaLR 0.86, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- E35K (p.Glu35Lys), cosmic curated COSV10524, REVEL 0.81, CADD 29.50
- P36A (p.Pro36Ala), rs1348109698, ClinGen CA354408860, ClinVar RCV001221270, TOPMed rs1348109698, REVEL 0.77, CADD 24.50, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P36S (p.Pro36Ser), NCI-TCGA TCGA novel, MetaLR 0.95, MetaSVM 1.10, Variant assessed as somatic; moderate impact.
- A37T (p.Ala37Thr), rs1576749841, ClinGen CA354408849, ClinVar RCV002009532, ClinVar RCV006368114, REVEL 0.40, CADD 21.10, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- A37V (p.Ala37Val), cosmic curated COSV62007, MetaLR 0.88, MetaSVM 0.96, Uncertain significance, Inborn genetic diseases
- P41A (p.Pro41Ala), rs143590990, ClinGen CA2600100, cosmic curated COSV10590, ClinVar RCV000227295, REVEL 0.72, CADD 22.10, Conflicting interpretations, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- P41S (p.Pro41Ser), rs143590990, ClinGen CA354408800, ClinVar RCV001052565, ClinVar RCV006367595, REVEL 0.76, CADD 24.80, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P41T (p.Pro41Thr), rs143590990, ClinGen CA354408803, ClinVar RCV002596471, REVEL 0.79, CADD 25.50, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P42Q (p.Pro42Gln), ExAC rs745999608, gnomAD rs745999608, REVEL 0.50, CADD 23.30, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P42S (p.Pro42Ser), Ensembl rs1436193518
- P42T (p.Pro42Thr), cosmic curated COSV10035, Uncertain significance, Inborn genetic diseases
- D43E (p.Asp43Glu), rs2107673546, ClinGen CA354408761, ClinVar RCV001364457, ClinVar RCV005038136, REVEL 0.59, CADD 19.20, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia; Deafness-lymphedema-leukemia sy
- D43Y (p.Asp43Tyr), cosmic curated COSV62003
- E44* (p.Glu44Ter), rs2107673544, ClinGen CA354408751, ClinVar RCV001542130, ClinVar RCV004591547, Pathogenic
- E44D (p.Glu44Asp), rs2068708917, Ensembl rs2068708917, ClinGen CA354408739, ClinVar RCV001983541, AlphaMissense 0.31, MetaLR 0.88, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- E44K (p.Glu44Lys), cosmic curated COSV10524, REVEL 0.89, CADD 32.00
- V45A (p.Val45Ala), rs2107673537, ClinGen CA354408724, ClinVar RCV002037461, ClinVar RCV005841846, AlphaMissense 0.83, MetaLR 0.94, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- V45M (p.Val45Met), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10035, Variant assessed as somatic; moderate impact.
- D46E (p.Asp46Glu), cosmic curated COSV62002, Uncertain significance, Inborn genetic diseases
- D46N (p.Asp46Asn), rs370750401, ClinGen CA2600097, ClinVar RCV000233976, ClinVar RCV001262682, REVEL 0.79, CADD 33.00, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- V47G (p.Val47Gly), rs2068708769, ClinGen CA354408682, ClinVar RCV001065532, Ensembl rs2068708769, REVEL 0.92, CADD 27.50, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- V47I (p.Val47Ile), rs1553771139, ClinGen CA354408694, ClinVar RCV000649491, Ensembl rs1553771139, REVEL 0.57, CADD 25.80, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- F48I (p.Phe48Ile), rs878855170, ClinGen CA10582135, ClinVar RCV000230807, ClinVar RCV001812654, REVEL 0.82, CADD 25.50, Conflicting interpretations, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- F48L (p.Phe48Leu), rs878855170, ClinGen CA354408673, ClinVar RCV001341349, TOPMed rs878855170, REVEL 0.80, CADD 23.60, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- F48V (p.Phe48Val), cosmic curated COSV62007, MetaLR 0.89, MetaSVM 0.75
- F49L (p.Phe49Leu), rs1474218678, ClinGen CA354408648, ClinVar RCV001059515, ClinVar RCV005572448, AlphaMissense 0.78, MetaLR 0.79, Uncertain significance, Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- F49Y (p.Phe49Tyr), Ensembl rs2068708625, MetaLR 0.93, MetaSVM 1.06
- N50S (p.Asn50Ser), rs1576749789, ClinGen CA354408634, cosmic curated COSV62004, ClinVar RCV000799547, AlphaMissense 0.10, MetaLR 0.91, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- H51Y (p.His51Tyr), cosmic curated COSV62003, Ensembl rs2068708486, REVEL 0.90, CADD 25.40, Uncertain significance, Inborn genetic diseases
- L52I (p.Leu52Ile), cosmic curated COSV62004
- L52V (p.Leu52Val), rs2472934484, ClinGen CA354408597, ClinVar RCV003461657, Uncertain significance, Acute myeloid leukemia
- D53E (p.Asp53Glu), rs1444196791, ClinGen CA354408565, ClinVar RCV003800941, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- S54* (p.Ser54Ter), rs2107673501, ClinGen CA354408555, ClinVar RCV001542131, ClinVar RCV005055170, Pathogenic
- S54A (p.Ser54Ala), rs1576749771, ClinGen CA354408557, ClinVar RCV000813253, ClinVar RCV005562476, REVEL 0.42, CADD 22.60, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- S54T (p.Ser54Thr), cosmic curated COSV10465
- S54W (p.Ser54Trp), cosmic curated COSV62007, MetaLR 0.82, MetaSVM 0.44
- Q55P (p.Gln55Pro), rs2107673491, ClinGen CA354408529, ClinVar RCV002045126, Ensembl rs2107673491, REVEL 0.91, CADD 27.20, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Q55R (p.Gln55Arg), cosmic curated COSV62003, REVEL 0.84, CADD 31.00
- G56D (p.Gly56Asp), cosmic curated COSV10943
- G56S (p.Gly56Ser), cosmic curated COSV62003
- N57I (p.Asn57Ile), cosmic curated COSV62006
- N57K (p.Asn57Lys), rs2068708105, ClinGen CA354408486, ClinVar RCV001940129, ClinVar RCV003426247, AlphaMissense 0.92, MetaLR 0.94, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- N57S (p.Asn57Ser), NCI-TCGA Cosmic COSV6200, MetaLR 0.94, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- N57T (p.Asn57Thr), rs2068708141, ClinGen CA354408492, ClinVar RCV001062656, Ensembl rs2068708141, REVEL 0.75, CADD 25.50, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P58H (p.Pro58His), rs2107673477, ClinGen CA354408477, ClinVar RCV001931352, Ensembl rs2107673477, AlphaMissense 0.47, MetaLR 0.93, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- P58L (p.Pro58Leu), rs2107673477, ClinGen CA354408471, ClinVar RCV002942886, REVEL 0.82, AlphaMissense 0.47, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- P58S (p.Pro58Ser), rs2068708070, ClinGen CA354408479, ClinVar RCV001226807, ClinVar RCV004978150, AlphaMissense 0.23, MetaLR 0.92, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Y59* (p.Tyr59Ter), rs146150325, ClinGen CA354408449, ClinVar RCV001311611, ClinVar RCV001542132, Pathogenic
- Y59C (p.Tyr59Cys), rs140047487, ClinGen CA2600092, ClinVar RCV000525982, ClinVar RCV001331504, REVEL 0.95, CADD 32.00, Uncertain significance, Inborn genetic diseases; not provided; Monocytopenia with susceptibility to infe
- Y59N (p.Tyr59Asn), rs2068707978, ClinGen CA354408463, ClinVar RCV002508687, ClinVar RCV005254108, REVEL 0.95, CADD 32.00, Uncertain significance, not provided; Myelodysplastic syndrome
- Y60C (p.Tyr60Cys), rs750003894, ClinGen CA354408436, ClinVar RCV001243944, ExAC rs750003894, AlphaMissense 0.22, MetaLR 0.95, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Y60F (p.Tyr60Phe), ExAC rs750003894, gnomAD rs750003894, REVEL 0.84, AlphaMissense 0.22, Uncertain significance, Inborn genetic diseases
- A61V (p.Ala61Val), rs375349195, ClinGen CA2600089, ClinVar RCV000234722, ClinVar RCV000765713, REVEL 0.53, CADD 23.40, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Myelod
- N62K (p.Asn62Lys), rs751200779, ClinGen CA2600087, ClinVar RCV001049661, ClinVar RCV003328647, REVEL 0.60, CADD 22.90, Uncertain significance, GATA2-related disorder; Inborn genetic diseases; Acute myeloid leukemia
- N62S (p.Asn62Ser), ExAC rs761336696, gnomAD rs761336696, REVEL 0.55, CADD 22.80
- P63A (p.Pro63Ala), rs1240150433, ClinGen CA354408391, ClinVar RCV001066938, TOPMed rs1240150433, REVEL 0.37, CADD 22.00, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- P63L (p.Pro63Leu), rs1576749724, ClinGen CA354408381, cosmic curated COSV10743, ClinVar RCV001878882, AlphaMissense 0.24, MetaLR 0.80, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P63R (p.Pro63Arg), rs1576749724, ClinGen CA354408387, ClinVar RCV001050258, ClinVar RCV004973301, REVEL 0.51, AlphaMissense 0.24, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- P63S (p.Pro63Ser), cosmic curated COSV10590, TOPMed rs1240150433, gnomAD rs1240150433, REVEL 0.31, CADD 19.60, Uncertain significance
- A64S (p.Ala64Ser), rs370831063, ClinGen CA354408373, ClinVar RCV001068495, ClinVar RCV004792715, REVEL 0.63, CADD 22.50, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A64T (p.Ala64Thr), rs370831063, ClinGen CA2600085, cosmic curated COSV10035, ClinVar RCV001923577, REVEL 0.67, CADD 23.20, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- H65D (p.His65Asp), cosmic curated COSV62007
- H65Y (p.His65Tyr), rs2107673433, ClinGen CA354408356, ClinVar RCV001898355, ClinVar RCV005572689, AlphaMissense 0.16, MetaLR 0.90, Uncertain significance, Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- A66S (p.Ala66Ser), rs2068707355, ClinGen CA354408340, ClinVar RCV001298571, ClinVar RCV004987038, REVEL 0.57, CADD 23.80, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- A66T (p.Ala66Thr), TOPMed rs2068707355, REVEL 0.62, CADD 23.60, Uncertain significance
- A66V (p.Ala66Val), rs2068707325, ClinGen CA354408328, ClinVar RCV001297429, Ensembl rs2068707325, REVEL 0.76, CADD 26.30, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- R67L (p.Arg67Leu), gnomAD rs1390513714, REVEL 0.76, CADD 25.80
- R67W (p.Arg67Trp), cosmic curated COSV62003, MetaLR 0.93, MetaSVM 1.02
- A68E (p.Ala68Glu), cosmic curated COSV62005, REVEL 0.83, CADD 26.20
- A68G (p.Ala68Gly), Ensembl rs1172408774
- A68R (p.Ala68Arg), rs2472934198, ClinGen CA2580068688, ClinVar RCV002838538, Pathogenic
- A68S (p.Ala68Ser), rs534541303, ClinGen CA83372373, ClinVar RCV003121501, ClinVar RCV004978757, REVEL 0.70, CADD 23.30, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- A68T (p.Ala68Thr), 1000Genomes rs534541303, TOPMed rs534541303, gnomAD rs534541303, Uncertain significance
- A68V (p.Ala68Val), cosmic curated COSV62005, REVEL 0.70, CADD 24.50, Uncertain significance, Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- R69C (p.Arg69Cys), Ensembl rs2068707044, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- R69H (p.Arg69His), rs1457679310, ClinGen CA354408281, ClinVar RCV000805266, TOPMed rs1457679310, AlphaMissense 0.38, MetaLR 0.92, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- R69L (p.Arg69Leu), rs2068706969, ClinGen CA1400719785, ClinVar RCV001320763, Ensembl rs2068706969, REVEL 0.69, CADD 23.40, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- R69P (p.Arg69Pro), TOPMed rs1457679310, MetaLR 0.92, MetaSVM 0.99, Uncertain significance
- V70F (p.Val70Phe), rs570531959, ClinGen CA2600083, ClinVar RCV000555700, ClinVar RCV003224333, REVEL 0.65, CADD 22.70, Conflicting interpretations, GATA2 deficiency with susceptibility to MDS/AML; Myelodysplastic syndrome; Monoc
- V70I (p.Val70Ile), cosmic curated COSV62008, REVEL 0.45, CADD 22.60
- S71A (p.Ser71Ala), rs2472934135, ClinGen CA354408259, ClinVar RCV003809433, Uncertain significance, Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
Public GATA2 analysis runs
- GATA2 analysis run — GATA2 (1,316 variants) — completed 2026-08-18