"Ambry Genetics"[submitter] AND "GATA1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634504	NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)	GATA1 (A66T)	Single nucleotide variant (missense variant)	GATA1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2258293	NM_002049.4(GATA1):c.218C>T (p.Pro73Leu)	GATA1 (P73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1054698	NM_002049.4(GATA1):c.485C>T (p.Ala162Val)	GATA1 (A162V)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +2 more	GUncertain significance
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 2073953	NM_002049.4(GATA1):c.1030G>A (p.Gly344Arg)	GATA1 (G344R)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +2 more	GUncertain significance
Select item 698888	NM_002049.4(GATA1):c.1045G>A (p.Val349Met)	GATA1 (V349M)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +3 more	GConflicting classifications of pathogenicity
Select item 1047760	NM_002049.4(GATA1):c.1046T>C (p.Val349Ala)	GATA1 (V349A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1554300	NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)	GATA1 (G356D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3098749	NM_002049.4(GATA1):c.1117T>C (p.Ser373Pro)	GATA1 (S373P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance