ClinVar Miner

Variants from Molecular Pathology Research Laboratory, SA Pathology

Location: Australia  Primary collection method: curation
Minimum submission review status: Collection method:
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Gene type:
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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 total
119 43 13 0 0 175

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GATA2 118 43 13 174
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 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 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 1
DNAJB8, EEFSEC, GATA2, LINC01565, RAB7A, RPN1 1 0 0 1
DNAJB8, GATA2 1 0 0 1
GATA2, LOC117038771 1 0 0 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic likely pathogenic uncertain significance total
Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 119 43 13 175

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