ClinVar for MedGen (Select 481294) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954502	NM_032638.5(GATA2):c.702T>A (p.Ala234=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2954408	NM_032638.5(GATA2):c.1368G>T (p.Pro456=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2954212	NM_032638.5(GATA2):c.230-20C>T	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2953739	NM_032638.5(GATA2):c.162G>C (p.Ser54=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2953552	NM_032638.5(GATA2):c.871+5A>G	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2953294	NM_032638.5(GATA2):c.1017+584G>T	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2953273	NM_032638.5(GATA2):c.836C>A (p.Thr279Asn)	GATA2 (T279N)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2953251	NM_032638.5(GATA2):c.1359G>T (p.Leu453=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2953212	NM_032638.5(GATA2):c.1141A>G (p.Asn381Asp)	GATA2 (N367D +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2953165	NM_032638.5(GATA2):c.741C>T (p.Pro247=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2952843	NM_032638.5(GATA2):c.1125C>G (p.Leu375=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2952623	NM_032638.5(GATA2):c.930C>T (p.Gly310=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2952338	NM_032638.5(GATA2):c.656_675del (p.Glu219fs)	GATA2 (E219fs)	Deletion (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2952318	NM_032638.5(GATA2):c.1276T>C (p.Ser426Pro)	GATA2 (S426P +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2952304	NM_032638.5(GATA2):c.522del (p.Thr176fs)	GATA2 (T176fs)	Deletion (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2952254	NM_032638.5(GATA2):c.1283T>A (p.Phe428Tyr)	GATA2 (F414Y +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2952204	NM_032638.5(GATA2):c.26G>A (p.Arg9His)	GATA2 (G9D +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2952026	NM_032638.5(GATA2):c.759G>C (p.Val253=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2951904	NM_032638.5(GATA2):c.323C>T (p.Ala108Val)	GATA2 (A108V)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2951817	NM_032638.5(GATA2):c.1325A>G (p.His442Arg)	GATA2 (H428R +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2951770	NM_032638.5(GATA2):c.647C>T (p.Ser216Leu)	GATA2 (S216L)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2951349	NM_032638.5(GATA2):c.232C>A (p.Arg78Ser)	GATA2 (R78S)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2950828	NM_032638.5(GATA2):c.230-5C>T	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2950432	NM_032638.5(GATA2):c.562A>G (p.Thr188Ala)	GATA2 (T188A)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2950207	NM_032638.5(GATA2):c.230-6C>G	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2950166	NM_032638.5(GATA2):c.996C>A (p.Leu332=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2950015	NM_032638.5(GATA2):c.1368G>C (p.Pro456=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2949867	NM_032638.5(GATA2):c.1078T>C (p.Trp360Arg)	GATA2 (W360R +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2949858	NM_032638.5(GATA2):c.1017+615T>G	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2949803	NM_032638.5(GATA2):c.305_309del (p.Lys102fs)	GATA2 (K102fs)	Deletion (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2949608	NM_032638.5(GATA2):c.76C>T (p.His26Tyr)	GATA2 (H26Y)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2949405	NM_032638.5(GATA2):c.1188G>A (p.Arg396=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2949332	NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)	GATA2 (M400fs +1 more)	Insertion (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2949249	NM_032638.5(GATA2):c.80C>T (p.Pro27Leu)	GATA2 (P27L)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2949179	NM_032638.5(GATA2):c.430G>A (p.Ala144Thr)	GATA2 (A144T)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2949035	NM_032638.5(GATA2):c.544T>A (p.Ser182Thr)	GATA2 (S182T)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2948916	NM_032638.5(GATA2):c.1083C>T (p.Arg361=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2948915	NM_032638.5(GATA2):c.478A>T (p.Thr160Ser)	GATA2 (T160S)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2948900	NM_032638.5(GATA2):c.615_629dup (p.Gly210_Val211insGluAspLysAspGly)	GATA2	Duplication (inframe_indel +1 more)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2948669	NM_032638.5(GATA2):c.1017+616C>G	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2948659	NM_032638.5(GATA2):c.211T>G (p.Ser71Ala)	GATA2 (S71A)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2948521	NM_032638.5(GATA2):c.789A>C (p.Gly263=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2948515	NM_032638.5(GATA2):c.866G>A (p.Cys289Tyr)	GATA2 (C289Y)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2948333	NM_032638.5(GATA2):c.1442A>G (p.Ter481Trp)	GATA2	Single nucleotide variant (stop lost)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2948195	NM_032638.5(GATA2):c.839C>T (p.Pro280Leu)	GATA2 (P280L)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2947992	NM_032638.5(GATA2):c.533C>G (p.Pro178Arg)	GATA2 (P178R)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2947934	NM_032638.5(GATA2):c.1316C>A (p.Pro439His)	GATA2 (P425H +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2947772	NM_032638.5(GATA2):c.41C>A (p.Pro14Gln)	GATA2 (P14Q)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2947570	NM_032638.5(GATA2):c.421T>C (p.Tyr141His)	GATA2 (Y141H)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2947479	NM_032638.5(GATA2):c.120G>A (p.Leu40=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2947349	NM_032638.5(GATA2):c.871+1G>A	GATA2	Single nucleotide variant (splice donor variant)	Monocytopenia with susceptibility to infections +1 more	GLikely pathogenic
Select item 2947215	NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)	GATA2 (G268fs)	Microsatellite (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2947214	NM_032638.5(GATA2):c.1037G>C (p.Gly346Ala)	GATA2 (G346A)	Single nucleotide variant (missense variant +1 more)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2947213	NM_032638.5(GATA2):c.1038dup (p.Thr347fs)	GATA2 (T347fs)	Duplication (frameshift variant +1 more)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2947191	NM_032638.5(GATA2):c.87G>A (p.Leu29=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2947136	NM_032638.5(GATA2):c.534C>G (p.Pro178=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2946891	NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)	GATA2 (R348fs +1 more)	Microsatellite (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2946810	NM_032638.5(GATA2):c.1017+641A>C	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2946638	NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)	GATA2 (G263fs)	Duplication (frameshift variant)	Monocytopenia with susceptibility to infections +1 more	GPathogenic
Select item 2946513	NM_032638.5(GATA2):c.1338C>A (p.Phe446Leu)	GATA2 (F432L +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2946285	NM_032638.5(GATA2):c.85C>T (p.Leu29=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2946172	NM_032638.5(GATA2):c.1394T>C (p.Leu465Pro)	GATA2 (L451P +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2946115	NM_032638.5(GATA2):c.1300G>A (p.Ala434Thr)	GATA2 (A420T +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2945335	NM_032638.5(GATA2):c.733C>A (p.Pro245Thr)	GATA2 (P245T)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2945287	NM_032638.5(GATA2):c.159C>G (p.Asp53Glu)	GATA2 (D53E)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2945162	NM_032638.5(GATA2):c.663G>T (p.Met221Ile)	GATA2 (M221I)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2945153	NM_032638.5(GATA2):c.217A>G (p.Ser73Gly)	GATA2 (S73G)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2945045	NM_032638.5(GATA2):c.1341C>T (p.Ser447=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944800	NM_032638.5(GATA2):c.965A>G (p.Tyr322Cys)	GATA2 (Y322C)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2944773	NM_032638.5(GATA2):c.1352A>C (p.His451Pro)	GATA2 (H437P +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2944731	NM_032638.5(GATA2):c.449G>A (p.Gly150Glu)	GATA2 (G150E)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2944648	NM_032638.5(GATA2):c.837C>A (p.Thr279=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944453	NM_032638.5(GATA2):c.418G>A (p.Val140Met)	GATA2 (V140M)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2944380	NM_032638.5(GATA2):c.753C>G (p.Ser251=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944362	NM_032638.5(GATA2):c.993A>G (p.Pro331=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944314	NM_032638.5(GATA2):c.1017+571C>T	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944227	NM_032638.5(GATA2):c.29G>T (p.Trp10Leu)	GATA2 (W10L)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2944195	NM_032638.5(GATA2):c.397G>C (p.Gly133Arg)	GATA2 (G133R)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2944191	NM_032638.5(GATA2):c.1017+620C>A	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944130	NM_032638.5(GATA2):c.1086A>T (p.Arg362=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2944061	NM_032638.5(GATA2):c.701C>G (p.Ala234Gly)	GATA2 (A234G)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2943256	NM_032638.5(GATA2):c.911C>A (p.Pro304His)	GATA2 (P304H)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2943173	NM_032638.5(GATA2):c.1027_1041del (p.Arg343_Thr347del)	GATA2	Deletion (inframe_indel +2 more)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2943068	NM_032638.5(GATA2):c.886G>A (p.Val296Ile)	GATA2 (V296I)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2942797	NM_032638.5(GATA2):c.1017+657C>T	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2942028	NM_032638.5(GATA2):c.80C>G (p.Pro27Arg)	GATA2 (P27R)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2941922	NM_032638.5(GATA2):c.1426G>A (p.Val476Met)	GATA2 (V476M +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2941683	NM_032638.5(GATA2):c.1089C>G (p.Asn363Lys)	GATA2 (N363K +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2941529	NM_032638.5(GATA2):c.268T>G (p.Leu90Val)	GATA2 (L90V)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2941274	NM_032638.5(GATA2):c.697C>T (p.Leu233=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2941214	NM_032638.5(GATA2):c.953C>T (p.Ala318Val)	GATA2 (A318V)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2941195	NM_032638.5(GATA2):c.910C>A (p.Pro304Thr)	GATA2 (P304T)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2940633	NM_032638.5(GATA2):c.849C>A (p.Arg283=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2940122	NM_032638.5(GATA2):c.874G>A (p.Gly292Ser)	GATA2 (G292S)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 2940051	NM_032638.5(GATA2):c.198G>A (p.Ala66=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2940040	NM_032638.5(GATA2):c.872-9C>G	GATA2	Single nucleotide variant (intron variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 2939535	NM_032638.5(GATA2):c.871+19G>A	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2939530	NM_032638.5(GATA2):c.550G>C (p.Asp184His)	GATA2 (D184H)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2939486	NM_032638.5(GATA2):c.913C>G (p.Leu305Val)	GATA2 (L305V)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2938938	NM_032638.5(GATA2):c.866G>T (p.Cys289Phe)	GATA2 (C289F)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance

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