Variants studied for Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	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

Submitter and significance breakdown #

Total submitters: 1

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Molecular Pathology Research Laboratory, SA Pathology	119	43	13	175

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