ClinVar Miner

Variants studied for GATA2 deficiency with susceptibility to MDS/AML

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
164 58 693 511 36 4 1424

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GATA2 161 58 691 511 36 3 1418
​intergenic 0 0 0 0 0 1 1
ABTB1, ACAD9, ADCY5, ALDH1L1, C3orf22, CCDC14, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COPG1, DNAJB8, EEFSEC, EFCAB12, EFCC1, GATA2, GP9, H1-10, H1-8, HACD2, HEG1, HMCES, IFT122, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, LINC01565, MBD4, MCM2, MGLL, MUC13, MYLK, OSBPL11, PLXNA1, PLXND1, PODXL2, PRR23E, RAB43, RAB7A, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC61A1, SLC12A8, SLC41A3, SNX4, TMCC1, TPRA1, TRH, TXNRD3, TXNRD3NB, UMPS, UROC1, ZNF148, ZXDC 1 0 0 0 0 0 1
ABTB1, ACAD9, ALG1L2, ATP2C1, CFAP92, CNBP, COL6A5, COL6A6, COPG1, DNAJB8, EEFSEC, EFCAB12, EFCC1, GATA2, GP9, H1-10, H1-8, HMCES, IFT122, ISY1, ISY1-RAB43, KBTBD12, LINC01565, MBD4, MCM2, MGLL, PIK3R4, PLXNA1, PLXND1, PODXL2, PRR23E, RAB43, RAB7A, RHO, RPN1, RUVBL1, SEC61A1, TMCC1, TPRA1, TRH 0 0 1 0 0 0 1
ABTB1, ADCY5, ALDH1L1, ARGFX, C3orf22, CASR, CCDC14, CD86, CFAP100, CHCHD6, CHST13, CSTA, DNAJB8, DTX3L, EAF2, EEFSEC, FAM162A, FBXO40, FSTL1, GATA2, GOLGB1, GTF2E1, HACD2, HCLS1, HEG1, HGD, HSPBAP1, ILDR1, IQCB1, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MCM2, MGLL, MIX23, MUC13, MYLK, NDUFB4, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PLXNA1, PODXL2, POLQ, PRR23E, RABL3, ROPN1, ROPN1B, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TPRA1, TXNRD3, TXNRD3NB, UMPS, UROC1, WDR5B, ZNF148, ZXDC 1 0 0 0 0 0 1
ACAD11, ACAD9, ACKR4, ACP3, ALG1L2, AMOTL2, ANAPC13, ASTE1, ATP2C1, BFSP2, C3orf36, CDV3, CEP63, CFAP92, CNBP, COL6A5, COL6A6, COPG1, CPNE4, DNAJB8, DNAJC13, EEFSEC, EFCAB12, EFCC1, EPHB1, GATA2, GP9, H1-10, H1-8, HMCES, IFT122, IL20RB, ISY1, ISY1-RAB43, KY, LINC01565, MBD4, MRPL3, MSL2, NCK1, NEK11, NPHP3, NUDT16, PCCB, PIK3R4, PLXND1, PPP2R3A, RAB43, RAB6B, RAB7A, RHO, RPN1, RYK, SLC35G2, SLCO2A1, SRPRB, STAG1, TF, TMCC1, TMEM108, TOPBP1, TRH, UBA5 1 0 0 0 0 0 1
ACAD9, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 0 1
DNAJB8, EEFSEC, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 0 1
DNAJB8, EEFSEC, GATA2, RUVBL1, SEC61A1 1 0 0 0 0 0 1
DNAJB8, GATA2 1 0 0 0 0 0 1
GATA2, LOC117038771 1 0 0 0 0 0 1
GATA2, LOC129937517 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 49 5 634 507 24 0 1219
Molecular Pathology Research Laboratory, SA Pathology 119 43 13 0 0 0 175
Illumina Laboratory Services, Illumina 0 0 49 4 23 0 76
OMIM 15 0 0 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 8 1 0 0 9
Mendelics 1 3 1 1 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 4 0 0 0 6
Baylor Genetics 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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