GATA5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	MRGBP, NKAIN4 +183 more	Copy number loss	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 2199244	NM_080473.5(GATA5):c.1182G>A (p.Leu394=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809264	NM_080473.5(GATA5):c.1181T>C (p.Leu394Pro)	GATA5 (L394P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652083	NM_080473.5(GATA5):c.1179G>A (p.Ala393=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806815	NM_080473.5(GATA5):c.1178C>T (p.Ala393Val)	GATA5 (A393V)	Single nucleotide variant (missense variant)	GATA5-related condition +1 more	GUncertain significance
Select item 1509212	NM_080473.5(GATA5):c.1175G>A (p.Cys392Tyr)	GATA5 (C392Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1421773	NM_080473.5(GATA5):c.1173G>C (p.Trp391Cys)	GATA5 (W391C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2813652	NM_080473.5(GATA5):c.1172G>C (p.Trp391Ser)	GATA5 (W391S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732856	NM_080473.5(GATA5):c.1170C>T (p.Ala390=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588643	NM_080473.5(GATA5):c.1170C>G (p.Ala390=)	GATA5	Single nucleotide variant (synonymous variant)	GATA5-related condition +1 more	GLikely benign
Select item 1402743	NM_080473.5(GATA5):c.1169C>T (p.Ala390Val)	GATA5 (A390V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634874	NM_080473.5(GATA5):c.1168G>T (p.Ala390Ser)	GATA5 (A390S)	Single nucleotide variant (missense variant)	GATA5-related condition	GUncertain significance
Select item 2800412	NM_080473.5(GATA5):c.1160G>T (p.Arg387Leu)	GATA5 (R387L)	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 2834065	NM_080473.5(GATA5):c.1153dup (p.Ala385fs)	GATA5 (A385fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2713656	NM_080473.5(GATA5):c.1153G>T (p.Ala385Ser)	GATA5 (A385S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658903	NM_080473.5(GATA5):c.1152G>T (p.Gly384=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204353	NM_080473.5(GATA5):c.1149G>T (p.Arg383Ser)	GATA5 (R383S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1448489	NM_080473.5(GATA5):c.1149G>C (p.Arg383Ser)	GATA5 (R383S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096514	NM_080473.5(GATA5):c.1147_1148del (p.Arg383fs)	GATA5 (R383fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1390554	NM_080473.5(GATA5):c.1147A>G (p.Arg383Gly)	GATA5 (R383G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855308	NM_080473.5(GATA5):c.1140T>C (p.Ala380=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777736	NM_080473.5(GATA5):c.1134C>T (p.Pro378=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1542783	NM_080473.5(GATA5):c.1131C>T (p.Ser377=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472155	NM_080473.5(GATA5):c.1127_1128inv (p.Pro376Leu)	GATA5 (P376L)	Inversion (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)	Congenital heart defects, multiple types, 5 +1 more	GBenign
Select item 1987519	NM_080473.5(GATA5):c.1126C>T (p.Pro376Ser)	GATA5 (P376S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321068	NM_080473.5(GATA5):c.1124C>G (p.Ala375Gly)	GATA5 (A375G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1589368	NM_080473.5(GATA5):c.1122G>A (p.Thr374=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483225	NM_080473.5(GATA5):c.1121C>T (p.Thr374Met)	GATA5 (T374M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1505829	NM_080473.5(GATA5):c.1117T>A (p.Ser373Thr)	GATA5 (S373T)	Single nucleotide variant (missense variant)	not provided	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 2007891	NM_080473.5(GATA5):c.1096C>T (p.Pro366Ser)	GATA5 (P366S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621491	NM_080473.5(GATA5):c.1093G>A (p.Glu365Lys)	GATA5 (E365K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3015938	NM_080473.5(GATA5):c.1092C>T (p.Phe364=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1558878	NM_080473.5(GATA5):c.1083G>A (p.Glu361=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826951	NM_080473.5(GATA5):c.1081G>C (p.Glu361Gln)	GATA5 (E361Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935303	NM_080473.5(GATA5):c.1080G>A (p.Leu360=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2094317	NM_080473.5(GATA5):c.1075C>A (p.His359Asn)	GATA5 (H359N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1640440	NM_080473.5(GATA5):c.1071C>T (p.Pro357=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1425338	NM_080473.5(GATA5):c.1057G>A (p.Asp353Asn)	GATA5 (D353N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844172	NM_080473.5(GATA5):c.1054G>A (p.Asp352Asn)	GATA5 (D352N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692547	NM_080473.5(GATA5):c.1045G>C (p.Gly349Arg)	GATA5 (G349R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474724	NM_080473.5(GATA5):c.1045G>A (p.Gly349Ser)	GATA5 (G349S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030168	NM_080473.5(GATA5):c.1039-3C>A	GATA5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2415135	NM_080473.5(GATA5):c.1039-4G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899464	NM_080473.5(GATA5):c.1039-5T>C	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862992	NM_080473.5(GATA5):c.1039-10G>C	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667034	NM_080473.5(GATA5):c.1039-15C>G	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575698	NM_080473.5(GATA5):c.1039-17C>G	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880658	NM_080473.5(GATA5):c.1039-18G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607198	NM_080473.5(GATA5):c.1039-19C>T	GATA5	Single nucleotide variant (intron 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 2999493	NM_080473.5(GATA5):c.1038+20T>G	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625355	NM_080473.5(GATA5):c.1038+15T>C	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648380	NM_080473.5(GATA5):c.1038+14C>G	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547520	NM_080473.5(GATA5):c.1038+13G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843287	NM_080473.5(GATA5):c.1038+10_1038+11insC	GATA5	Insertion (intron variant)	not provided	GLikely benign
Select item 2776092	NM_080473.5(GATA5):c.1038+10T>C	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729793	NM_080473.5(GATA5):c.1038+7G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994510	NM_080473.5(GATA5):c.1038+5G>A	GATA5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3038563	NM_080473.5(GATA5):c.1038+4A>T	GATA5	Single nucleotide variant (intron variant)	GATA5-related condition	GLikely benign
Select item 1360312	NM_080473.5(GATA5):c.1031C>T (p.Ala344Val)	GATA5 (A344V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364595	NM_080473.5(GATA5):c.1030G>A (p.Ala344Thr)	GATA5 (A344T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975904	NM_080473.5(GATA5):c.1025G>A (p.Ser342Asn)	GATA5 (S342N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950342	NM_080473.5(GATA5):c.1022C>T (p.Pro341Leu)	GATA5 (P341L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828168	NM_080473.5(GATA5):c.1015C>T (p.Pro339Ser)	GATA5 (P339S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133423	NM_080473.5(GATA5):c.1014C>A (p.Cys338Ter)	GATA5 (C338*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2194110	NM_080473.5(GATA5):c.1002G>A (p.Ala334=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962248	NM_080473.5(GATA5):c.1001C>T (p.Ala334Val)	GATA5 (A334V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938162	NM_080473.5(GATA5):c.1000G>A (p.Ala334Thr)	GATA5 (A334T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174882	NM_080473.5(GATA5):c.981G>C (p.Ser327=)	GATA5	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 5 +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 1673885	NM_080473.5(GATA5):c.972A>G (p.Ala324=)	GATA5	Single nucleotide variant (synonymous 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 2135341	NM_080473.5(GATA5):c.957C>T (p.Ser319=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016522	NM_080473.5(GATA5):c.952G>A (p.Ala318Thr)	GATA5 (A318T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714959	NM_080473.5(GATA5):c.948T>G (p.Ala316=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916342	NM_080473.5(GATA5):c.948T>C (p.Ala316=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961912	NM_080473.5(GATA5):c.942A>C (p.Pro314=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918439	NM_080473.5(GATA5):c.933G>A (p.Ser311=)	GATA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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