"PreventionGenetics, part of Exact Sciences"[submitter] AND "GATA2"[ge - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 570747	NM_032638.5(GATA2):c.1370C>T (p.Thr457Met)	GATA2 (T457M +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +3 more	GUncertain significance
Select item 404084	NM_032638.5(GATA2):c.1347C>A (p.Ser449=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 800684	NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg)	GATA2 (S433R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 472441	NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)	GATA2 (S425L +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +6 more	GUncertain significance
Select item 257562	NM_032638.5(GATA2):c.1233G>A (p.Ala411=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign/Likely benign
Select item 539716	NM_032638.5(GATA2):c.1230G>T (p.Gly410=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3048900	NM_032638.5(GATA2):c.1194G>A (p.Arg398=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder	GLikely benign
Select item 29709	NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)	GATA2 (R398W +1 more)	Single nucleotide variant (missense variant)	Leukemia, acute myeloid, susceptibility to +5 more	GPathogenic
Select item 472437	NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln)	GATA2 (R396Q +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 800683	NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)	GATA2 (R382W +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 800682	NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly)	GATA2 (R382G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 412752	NM_032638.5(GATA2):c.1173A>G (p.Glu391=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +4 more	GBenign/Likely benign
Select item 800681	NM_032638.5(GATA2):c.1165_1170del (p.Lys389_Lys390del)	GATA2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 800680	NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs)	GATA2 (M374fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 800679	NM_032638.5(GATA2):c.1144-1G>C	GATA2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 800678	NM_032638.5(GATA2):c.1143+13C>T	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +2 more	GLikely benign
Select item 539726	NM_032638.5(GATA2):c.1143+9G>A	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +2 more	GLikely benign
Select item 800677	NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter)	GATA2 (Y362* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 435281	NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	GATA2 (R362* +1 more)	Single nucleotide variant (nonsense)	Deafness-lymphedema-leukemia syndrome +5 more	GPathogenic/Likely pathogenic
Select item 472431	NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	GATA2 (R361C +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GPathogenic/Likely pathogenic
Select item 29711	NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)	GATA2 (T354M +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 800675	NM_032638.5(GATA2):c.1036_1056dup (p.Gly346_Cys352dup)	GATA2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 800676	NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser)	GATA2 (N351S)	Single nucleotide variant (missense variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472430	NM_032638.5(GATA2):c.1038C>T (p.Gly346=)	GATA2	Single nucleotide variant (synonymous variant +1 more)	GATA2-related disorder +2 more	GLikely benign
Select item 241714	NM_032638.5(GATA2):c.1035C>G (p.Ala345=)	GATA2	Single nucleotide variant (synonymous variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GLikely benign
Select item 800674	NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)	GATA2 (R343*)	Single nucleotide variant (nonsense +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 800673	NM_032638.5(GATA2):c.1021del (p.Ala341fs)	GATA2 (A341fs)	Deletion (frameshift variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 539721	NM_032638.5(GATA2):c.1020G>A (p.Ser340=)	GATA2	Single nucleotide variant (synonymous variant +1 more)	GATA2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 800672	NM_032638.5(GATA2):c.1018-2A>C	GATA2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 257561	NM_032638.5(GATA2):c.1018-19C>T	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +3 more	GBenign
Select item 566562	NM_032638.5(GATA2):c.1017+572C>T	GATA2	Single nucleotide variant (intron variant)	GATA2 deficiency with susceptibility to MDS/AML +3 more	GPathogenic/Likely pathogenic
Select item 241713	NM_032638.5(GATA2):c.1017+8C>T	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +2 more	GLikely benign
Select item 800671	NM_032638.5(GATA2):c.1017+2T>A	GATA2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 29719	NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)	GATA2 (R337*)	Single nucleotide variant (nonsense)	Monocytopenia with susceptibility to infections +4 more	GPathogenic
Select item 1089026	NM_032638.5(GATA2):c.978T>C (p.Asn326=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder +3 more	GLikely benign
Select item 523417	NM_032638.5(GATA2):c.971A>G (p.Lys324Arg)	GATA2 (K324R)	Single nucleotide variant (missense variant)	Anemia +4 more	GUncertain significance
Select item 539731	NM_032638.5(GATA2):c.927C>T (p.Asp309=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder +2 more	GLikely benign
Select item 956340	NM_032638.5(GATA2):c.905C>T (p.Ala302Val)	GATA2 (A302V)	Single nucleotide variant (missense variant)	GATA2-related disorder +2 more	GUncertain significance
Select item 800697	NM_032638.5(GATA2):c.890del (p.Asn297fs)	GATA2 (N297fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 257568	NM_032638.5(GATA2):c.872-5T>C	GATA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 211062	NM_032638.5(GATA2):c.857C>T (p.Ala286Val)	GATA2 (A286V)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +3 more	GConflicting classifications of pathogenicity
Select item 3050635	NM_032638.5(GATA2):c.849C>T (p.Arg283=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder	GLikely benign
Select item 800696	NM_032638.5(GATA2):c.844C>T (p.Gln282Ter)	GATA2 (Q282*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 800695	NM_032638.5(GATA2):c.802G>T (p.Gly268Ter)	GATA2 (G268*)	Single nucleotide variant (nonsense)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 134468	NM_032638.5(GATA2):c.787G>A (p.Gly263Arg)	GATA2 (G263R)	Single nucleotide variant (missense variant)	GATA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 800694	NM_032638.5(GATA2):c.785G>A (p.Ser262Asn)	GATA2 (S262N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741456	NM_032638.5(GATA2):c.753C>T (p.Ser251=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +2 more	GLikely benign
Select item 134466	NM_032638.5(GATA2):c.748C>G (p.Pro250Ala)	GATA2 (P250A)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign
Select item 539724	NM_032638.5(GATA2):c.729C>T (p.His243=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder +2 more	GLikely benign
Select item 343139	NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)	GATA2 (G237D)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 404086	NM_032638.5(GATA2):c.707T>C (p.Met236Thr)	GATA2 (M236T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 404079	NM_032638.5(GATA2):c.669G>A (p.Met223Ile)	GATA2 (M223I)	Single nucleotide variant (missense variant)	GATA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 800693	NM_032638.5(GATA2):c.655dup (p.Glu219fs)	GATA2 (E219fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 539711	NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer)	GATA2	Duplication (nonsense +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 800688	NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs)	GATA2 (P185fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 800691	NM_032638.5(GATA2):c.610C>T (p.Arg204Ter)	GATA2 (R204*)	Single nucleotide variant (nonsense)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic
Select item 29715	NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer)	GATA2	Duplication (frameshift variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 963444	NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)	GATA2 (G200A)	Single nucleotide variant (missense variant)	GATA2-related disorder +3 more	GUncertain significance
Select item 800690	NM_032638.5(GATA2):c.599del (p.Gly200fs)	GATA2 (G200fs)	Deletion (frameshift variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 257566	NM_032638.5(GATA2):c.564G>C (p.Thr188=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign
Select item 800689	NM_032638.5(GATA2):c.561dup (p.Thr188fs)	GATA2 (T188fs)	Duplication (frameshift variant)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic
Select item 2039777	NM_032638.5(GATA2):c.540A>C (p.Glu180Asp)	GATA2 (E180D)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GUncertain significance
Select item 800687	NM_032638.5(GATA2):c.524C>G (p.Pro175Arg)	GATA2 (P175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134467	NM_032638.5(GATA2):c.490G>A (p.Ala164Thr)	GATA2 (A164T)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign
Select item 134465	NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)	GATA2 (P161A)	Single nucleotide variant (missense variant)	GATA2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 257565	NM_032638.5(GATA2):c.480C>T (p.Thr160=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign/Likely benign
Select item 404080	NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)	GATA2 (G149R)	Single nucleotide variant (missense variant)	GATA2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 800686	NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs)	GATA2 (G136fs)	Indel (frameshift variant)	Myelodysplastic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 666189	NM_032638.5(GATA2):c.338A>G (p.His113Arg)	GATA2 (H113R)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GUncertain significance
Select item 257564	NM_032638.5(GATA2):c.333C>T (p.His111=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign/Likely benign
Select item 404071	NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val)	GATA2 (G100V)	Indel (missense variant)	GATA2-related disorder +3 more	GUncertain significance
Select item 241722	NM_032638.5(GATA2):c.279G>A (p.Pro93=)	GATA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 800685	NM_032638.5(GATA2):c.229+127C>T	GATA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 412748	NM_032638.5(GATA2):c.213C>T (p.Ser71=)	GATA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 702973	NM_032638.5(GATA2):c.189C>T (p.Pro63=)	GATA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 846368	NM_032638.5(GATA2):c.186C>G (p.Asn62Lys)	GATA2 (N62K)	Single nucleotide variant (missense variant)	GATA2-related disorder +3 more	GUncertain significance
Select item 241721	NM_032638.5(GATA2):c.182C>T (p.Ala61Val)	GATA2 (A61V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 241716	NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)	GATA2 (P41A)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +5 more	GConflicting classifications of pathogenicity
Select item 257567	NM_032638.5(GATA2):c.66C>G (p.Pro22=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +4 more	GBenign/Likely benign
Select item 800692	NM_032638.5(GATA2):c.64C>A (p.Pro22Thr)	GATA2 (P22T)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GUncertain significance
Select item 1094037	NM_032638.5(GATA2):c.57G>T (p.Ala19=)	GATA2	Single nucleotide variant (synonymous variant)	GATA2-related disorder +2 more	GLikely benign
Select item 257563	NM_032638.5(GATA2):c.15C>G (p.Pro5=)	GATA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3032314	NM_032638.5(GATA2):c.-4G>T	GATA2	Single nucleotide variant (5 prime UTR variant)	GATA2-related disorder	GLikely benign
Select item 257560	NM_032638.5(GATA2):c.-5C>G	GATA2	Single nucleotide variant (5 prime UTR variant)	GATA2-related disorder +2 more	GBenign/Likely benign

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Items: 84