"GeneDx"[submitter] AND "GATA5"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1208316	NM_080473.5(GATA5):c.*272C>A	GATA5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1189064	NM_080473.5(GATA5):c.*230A>G	GATA5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1806815	NM_080473.5(GATA5):c.1178C>T (p.Ala393Val)	GATA5 (A393V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320928	NM_080473.5(GATA5):c.1160G>A (p.Arg387His)	GATA5 (R387H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180368	NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)	GATA5 (R387C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803527	NM_080473.5(GATA5):c.1131C>A (p.Ser377Arg)	GATA5 (S377R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466837	NM_080473.5(GATA5):c.1127_1128delinsGG (p.Pro376Arg)	GATA5 (P376R)	Indel (missense variant)	not provided	GUncertain significance
Select item 1175101	NM_080473.5(GATA5):c.1128A>G (p.Pro376=)	GATA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1321068	NM_080473.5(GATA5):c.1124C>G (p.Ala375Gly)	GATA5 (A375G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1483225	NM_080473.5(GATA5):c.1121C>T (p.Thr374Met)	GATA5 (T374M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1319039	NM_080473.5(GATA5):c.1115C>G (p.Pro372Arg)	GATA5 (P372R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220210	NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)	GATA5 (K363R)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GConflicting classifications of pathogenicity
Select item 985833	NM_080473.5(GATA5):c.1072G>A (p.Gly358Ser)	GATA5 (G358S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1186465	NM_080473.5(GATA5):c.1067C>G (p.Ala356Gly)	GATA5 (A356G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1196233	NM_080473.5(GATA5):c.1039-48C>G	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270264	NM_080473.5(GATA5):c.1039-78C>G	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194485	NM_080473.5(GATA5):c.1039-143C>A	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267308	NM_080473.5(GATA5):c.1038+83C>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174882	NM_080473.5(GATA5):c.981G>C (p.Ser327=)	GATA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1200397	NM_080473.5(GATA5):c.976A>G (p.Thr326Ala)	GATA5 (T326A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1996624	NM_080473.5(GATA5):c.964A>G (p.Ser322Gly)	GATA5 (S322G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343128	NM_080473.5(GATA5):c.920C>T (p.Thr307Ile)	GATA5 (T307I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662587	NM_080473.5(GATA5):c.914G>A (p.Gly305Glu)	GATA5 (G305E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226505	NM_080473.5(GATA5):c.914-148G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200989	NM_080473.5(GATA5):c.913+35T>C	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212345	NM_080473.5(GATA5):c.913+23C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216985	NM_080473.5(GATA5):c.891C>T (p.Ile297=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3373546	NM_080473.5(GATA5):c.875G>T (p.Arg292Leu)	GATA5 (R292L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628672	NM_080473.5(GATA5):c.868C>T (p.Arg290Trp)	GATA5 (R290W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1174638	NM_080473.5(GATA5):c.852G>A (p.Lys284=)	GATA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 703244	NM_080473.5(GATA5):c.826-7C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1218173	NM_080473.5(GATA5):c.826-196C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232465	NM_080473.5(GATA5):c.825+149G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191064	NM_080473.5(GATA5):c.825+69C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276451	NM_080473.5(GATA5):c.825+59C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 704002	NM_080473.5(GATA5):c.825+9G>T	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 705017	NM_080473.5(GATA5):c.817C>T (p.Leu273=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1698360	NM_080473.5(GATA5):c.802_804dup (p.Gly268_Leu269insGly)	GATA5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1208828	NM_080473.5(GATA5):c.787G>A (p.Val263Met)	GATA5 (V263M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339622	NM_080473.5(GATA5):c.763C>T (p.Arg255Trp)	GATA5 (R255W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1188617	NM_080473.5(GATA5):c.747C>G (p.Thr249=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361213	NM_080473.5(GATA5):c.721C>T (p.Leu241Phe)	GATA5 (L241F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426358	NM_080473.5(GATA5):c.712C>T (p.Arg238Cys)	GATA5 (R238C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437139	NM_080473.5(GATA5):c.710G>A (p.Arg237His)	GATA5 (R237H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320744	NM_080473.5(GATA5):c.704C>T (p.Ser235Leu)	GATA5 (S235L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261402	NM_080473.5(GATA5):c.700-10G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293628	NM_080473.5(GATA5):c.700-46C>G	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208215	NM_080473.5(GATA5):c.700-46C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190882	NM_080473.5(GATA5):c.700-47C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202790	NM_080473.5(GATA5):c.700-63C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251691	NM_080473.5(GATA5):c.700-80G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220990	NM_080473.5(GATA5):c.700-128T>C	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234840	NM_080473.5(GATA5):c.700-209G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279633	NM_080473.5(GATA5):c.700-260A>G	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236525	NM_080473.5(GATA5):c.700-299C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211755	NM_080473.5(GATA5):c.699+11G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 703986	NM_080473.5(GATA5):c.698T>C (p.Leu233Pro)	GATA5 (L233P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 977500	NM_080473.5(GATA5):c.695G>A (p.Arg232His)	GATA5 (R232H)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GUncertain significance
Select item 1486157	NM_080473.5(GATA5):c.682C>T (p.Arg228Trp)	GATA5 (R228W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209061	NM_080473.5(GATA5):c.679G>A (p.Val227Ile)	GATA5 (V227I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1202971	NM_080473.5(GATA5):c.678C>T (p.Leu226=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1697160	NM_080473.5(GATA5):c.657G>T (p.Met219Ile)	GATA5 (M219I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175095	NM_080473.5(GATA5):c.609C>T (p.Asp203=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1050704	NM_080473.5(GATA5):c.605G>A (p.Arg202Gln)	GATA5 (R202Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427081	NM_080473.5(GATA5):c.550G>C (p.Gly184Arg)	GATA5 (G184R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1320459	NM_080473.5(GATA5):c.547C>T (p.Pro183Ser)	GATA5 (P183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218605	NM_080473.5(GATA5):c.524-48_524-37del	GATA5	Deletion (intron variant)	not provided	GLikely benign
Select item 1235296	NM_080473.5(GATA5):c.524-297C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293399	NM_080473.5(GATA5):c.523+224A>G	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205366	NM_080473.5(GATA5):c.523+58C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 704230	NM_080473.5(GATA5):c.492G>C (p.Leu164=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1031059	NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)	GATA5 (F159L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1192998	NM_080473.5(GATA5):c.474C>T (p.Pro158=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368664	NM_080473.5(GATA5):c.472C>T (p.Pro158Ser)	GATA5 (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505806	NM_080473.5(GATA5):c.430G>T (p.Ala144Ser)	GATA5 (A144S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707779	NM_080473.5(GATA5):c.427C>G (p.Pro143Ala)	GATA5 (P143A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420167	NM_080473.5(GATA5):c.424T>C (p.Tyr142His)	GATA5 (Y142H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1207765	NM_080473.5(GATA5):c.395G>A (p.Arg132Gln)	GATA5 (R132Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1488524	NM_080473.5(GATA5):c.308G>A (p.Gly103Asp)	GATA5 (G103D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200412	NM_080473.5(GATA5):c.306C>T (p.Pro102=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3364609	NM_080473.5(GATA5):c.295C>T (p.Pro99Ser)	GATA5 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201801	NM_080473.5(GATA5):c.287C>G (p.Ala96Gly)	GATA5 (A96G)	Single nucleotide variant (missense variant)	GATA5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1201923	NM_080473.5(GATA5):c.232G>A (p.Gly78Ser)	GATA5 (G78S)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1212308	NM_080473.5(GATA5):c.201A>T (p.Thr67=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1206316	NM_080473.5(GATA5):c.199A>C (p.Thr67Pro)	GATA5 (T67P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1420757	NM_080473.5(GATA5):c.188G>C (p.Gly63Ala)	GATA5 (G63A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206630	NM_080473.5(GATA5):c.130T>C (p.Ser44Pro)	GATA5 (S44P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700744	NM_080473.5(GATA5):c.122C>T (p.Ser41Leu)	GATA5 (S41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180367	NM_080473.5(GATA5):c.104C>T (p.Pro35Leu)	GATA5 (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190007	NM_080473.5(GATA5):c.83C>T (p.Ala28Val)	GATA5 (A28V)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GUncertain significance
Select item 809265	NM_080473.5(GATA5):c.56C>G (p.Ser19Trp)	GATA5 (S19W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 180366	NM_080473.5(GATA5):c.8A>G (p.Gln3Arg)	GATA5 (Q3R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1262229	NM_080473.5(GATA5):c.-21-27C>T	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205252	NM_080473.5(GATA5):c.-22+191G>T	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228083	NM_080473.5(GATA5):c.-22+175G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3361029	NM_080473.5(GATA5):c.25_26delinsAG (p.Ala9Arg)	GATA5 (A9R)	Indel (missense variant)	not provided	GUncertain significance
Select item 3360834	NM_080473.5(GATA5):c.74C>T (p.Ala25Val)	GATA5 (A25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 98