ClinVar for Gene (Select 2623) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3057125	NM_002049.4(GATA1):c.573T>C (p.Arg191=)	GATA1	Single nucleotide variant (synonymous variant)	GATA1-related condition	GLikely benign
Select item 3032772	NM_002049.4(GATA1):c.-19-12C>T	GATA1	Single nucleotide variant (intron variant)	GATA1-related condition	GLikely benign
Select item 3026898	NM_002049.4(GATA1):c.871-33A>G	GATA1, LOC119407405	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2954514	NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)	GATA1 (P390A)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2954374	NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)	GATA1 (G366V)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2954020	NM_002049.4(GATA1):c.580C>G (p.Leu194Val)	GATA1 (L194V)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2953562	NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)	GATA1 (G208A)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2953110	NM_002049.4(GATA1):c.345C>T (p.Asp115=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2952846	NM_002049.4(GATA1):c.220+1G>T	GATA1	Single nucleotide variant (splice donor variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2952845	NM_002049.4(GATA1):c.-4_21del (p.Met1fs)	GATA1 (M1fs)	Deletion (frameshift variant +1 more)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2952312	NM_002049.4(GATA1):c.220+5C>T	GATA1	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2951756	NM_002049.4(GATA1):c.93G>A (p.Gly31=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2951221	NM_002049.4(GATA1):c.221-3C>T	GATA1	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2950279	NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)	GATA1 (E85K)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2950118	NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)	GATA1 (Y62fs)	Insertion (frameshift variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2949382	NM_002049.4(GATA1):c.528C>T (p.Thr176=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2948822	NM_002049.4(GATA1):c.871-11C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2948592	NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)	GATA1 (P400S)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2948558	NM_002049.4(GATA1):c.251T>C (p.Met84Thr)	GATA1 (M84T)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2948512	NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)	GATA1	Deletion (inframe_deletion)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2948168	NM_002049.4(GATA1):c.125_146del (p.Asp42fs)	GATA1 (D42fs)	Deletion (frameshift variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2948167	NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)	GATA1 (L41W)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2947896	NM_002049.4(GATA1):c.294C>T (p.Tyr98=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2946969	NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)	GATA1 (N206K)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2946372	NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)	GATA1 (P50R)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2946049	NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)	GATA1 (S36F)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2945767	NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)	GATA1 (L379V)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2945727	NM_002049.4(GATA1):c.194_206del (p.Asp65fs)	GATA1 (D65fs)	Deletion (frameshift variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2945609	NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)	GATA1 (G368R)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2944587	NM_002049.4(GATA1):c.879G>A (p.Arg293=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2944455	NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)	GATA1 (F33fs)	Duplication (frameshift variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2941994	NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)	GATA1 (P401T)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2941504	NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)	GATA1 (Y62*)	Single nucleotide variant (nonsense)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 2941368	NM_002049.4(GATA1):c.579T>C (p.Thr193=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2939837	NM_002049.4(GATA1):c.51G>C (p.Gln17His)	GATA1 (Q17H)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2937625	NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)	GATA1 (G392D)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2937136	NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)	GATA1 (A184N)	Indel (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2936770	NM_002049.4(GATA1):c.797C>T (p.Thr266Met)	GATA1 (T266M)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2936694	NM_002049.4(GATA1):c.855C>T (p.Tyr285=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2936604	NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)	GATA1 (G368S)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2936412	NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)	GATA1 (E122K)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2936297	NM_002049.4(GATA1):c.684C>T (p.Cys228=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2935837	NM_002049.4(GATA1):c.1152A>C (p.Gly384=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2933448	NM_002049.4(GATA1):c.279T>C (p.Tyr93=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2933444	NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)	GATA1 (G356S)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2933287	NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)	GATA1 (G340D)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2932603	NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)	GATA1 (F75C)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2931927	NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)	GATA1 (L23R)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2931674	NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)	GATA1 (M399T)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2931484	NM_002049.4(GATA1):c.831C>T (p.Pro277=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2931414	NM_002049.4(GATA1):c.1215T>A (p.Thr405=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2930514	NM_002049.4(GATA1):c.969C>G (p.Gly323=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2928688	NM_002049.4(GATA1):c.1086T>C (p.His362=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2928606	NM_002049.4(GATA1):c.48C>A (p.Pro16=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2928443	NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)	GATA1 (G165D)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2927945	NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)	GATA1 (E200A)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2927781	NM_002049.4(GATA1):c.61C>T (p.Pro21Ser)	GATA1 (P21S)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2927115	NM_002049.4(GATA1):c.209G>C (p.Arg70Thr)	GATA1 (R70T)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2926063	NM_002049.4(GATA1):c.884T>C (p.Leu295Pro)	GATA1 (L295P)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2925918	NM_002049.4(GATA1):c.347C>G (p.Ser116Cys)	GATA1 (S116C)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2925763	NM_002049.4(GATA1):c.117G>A (p.Glu39=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2925398	NM_002049.4(GATA1):c.1068C>A (p.Gly356=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2924661	NM_002049.4(GATA1):c.372G>A (p.Leu124=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2924243	NM_002049.4(GATA1):c.276A>G (p.Pro92=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2924203	NM_002049.4(GATA1):c.870+5C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2923447	NM_002049.4(GATA1):c.821G>T (p.Ser274Ile)	GATA1 (S274I)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2922927	NM_002049.4(GATA1):c.41C>T (p.Pro14Leu)	GATA1 (P14L)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2922500	NM_002049.4(GATA1):c.221-20T>A	GATA1	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GBenign
Select item 2921606	NM_002049.4(GATA1):c.258G>T (p.Gly86=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2691904	NM_002049.4(GATA1):c.800C>T (p.Thr267Ile)	GATA1 (T267I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2691473	NM_002049.4(GATA1):c.599-10A>G	GATA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2689117	NM_002049.4(GATA1):c.1058T>C (p.Leu353Pro)	GATA1 (L353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689116	NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)	GATA1 (K245R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2689115	NM_002049.4(GATA1):c.205_220+8del	GATA1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2689114	NM_002049.4(GATA1):c.1019del (p.Gly340fs)	GATA1 (G340fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2671636	NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)	GATA1 (A59fs)	Duplication (frameshift variant)	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	GLikely pathogenic
Select item 2635148	NM_002049.4(GATA1):c.169_170insGCTGCAGGGTG (p.Ala57fs)	GATA1 (A57fs)	Insertion (frameshift variant)	GATA1-related condition	GLikely pathogenic
Select item 2634504	NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)	GATA1 (A66T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 2634432	NM_002049.4(GATA1):c.189C>A (p.Tyr63Ter)	GATA1 (Y63*)	Single nucleotide variant (nonsense)	GATA1-related condition	GLikely pathogenic
Select item 2630838	NM_002049.4(GATA1):c.1132C>T (p.His378Tyr)	GATA1 (H378Y)	Single nucleotide variant (missense variant)	GATA1-related condition	GUncertain significance
Select item 2578025	NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)	GATA1 (T296P)	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504848	NM_002049.4(GATA1):c.598G>A (p.Glu200Lys)	GATA1 (E200K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2500744	NM_002049.4(GATA1):c.470_471del (p.Pro157fs)	GATA1 (P157fs)	Deletion (frameshift variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	GPathogenic
Select item 2461824	NM_002049.4(GATA1):c.572G>A (p.Arg191His)	GATA1 (R191H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2432045	NM_002049.4(GATA1):c.685G>A (p.Gly229Ser)	GATA1 (G229S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432044	NM_002049.4(GATA1):c.507C>T (p.Ser169=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 2432043	NM_002049.4(GATA1):c.595T>A (p.Cys199Ser)	GATA1 (C199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2424348	NC_000023.10:g.(?_48542243)_(48652571_?)del	GATA1, GLOD5 +2 more	Deletion	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2424347	NC_000023.10:g.(?_48649517)_(48652571_?)dup	GATA1	Duplication	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance

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