"Ambry Genetics"[submitter] AND "GATA3"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2308904	NM_001002295.2(GATA3):c.45C>A (p.His15Gln)	GATA3 (H15Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268469	NM_001002295.2(GATA3):c.148C>T (p.Leu50Phe)	GATA3 (L50F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286286	NM_001002295.2(GATA3):c.295G>A (p.Gly99Ser)	GATA3 (G99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475186	NM_001002295.2(GATA3):c.394G>C (p.Val132Leu)	GATA3 (V132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487289	NM_001002295.2(GATA3):c.454A>C (p.Thr152Pro)	GATA3 (T152P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2385322	NM_001002295.2(GATA3):c.470C>T (p.Pro157Leu)	GATA3 (P157L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495433	NM_001002295.2(GATA3):c.526G>A (p.Ala176Thr)	GATA3 (A176T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237767	NM_001002295.2(GATA3):c.537C>G (p.Asp179Glu)	GATA3 (D179E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244663	NM_001002295.2(GATA3):c.572C>T (p.Pro191Leu)	GATA3 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521009	NM_001002295.2(GATA3):c.587del (p.Leu196fs)	GATA3 (L196fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2469897	NM_001002295.2(GATA3):c.649C>G (p.His217Asp)	GATA3 (H217D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2243856	NM_001002295.2(GATA3):c.695G>C (p.Gly232Ala)	GATA3 (G232A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526064	NM_001002295.2(GATA3):c.730C>G (p.Pro244Ala)	GATA3 (P244A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098752	NM_001002295.2(GATA3):c.870_872del (p.Tyr291del)	GATA3 (Y291del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1503589	NM_001002295.2(GATA3):c.895C>T (p.Arg299Trp)	GATA3 (R299W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic