"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GATA1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380742	NM_002049.4(GATA1):c.184T>G (p.Tyr62Asp)	GATA1 (Y62D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705970	NM_002049.4(GATA1):c.220+2T>C	GATA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2932603	NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)	GATA1 (F75C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2937136	NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)	GATA1 (A184N)	Indel (missense variant)	Diamond-Blackfan anemia +2 more	GUncertain significance
Select item 1693788	NM_002049.4(GATA1):c.677A>G (p.Asn226Ser)	GATA1 (N226S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336797	NM_002049.4(GATA1):c.871-7T>C	GATA1, LOC119407405	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3380743	NM_002049.4(GATA1):c.1073dup (p.Gly359fs)	GATA1 (G359fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3380744	NM_002049.4(GATA1):c.1140G>A (p.Met380Ile)	GATA1 (M380I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380745	NM_002049.4(GATA1):c.1204A>C (p.Thr402Pro)	GATA1 (T402P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance