C3550789[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 952388	NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	GATA1 (S12*)	Single nucleotide variant (nonsense)	GATA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 465135	NM_002049.4(GATA1):c.94G>A (p.Val32Ile)	GATA1 (V32I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +6 more	GConflicting classifications of pathogenicity
Select item 258542	NM_002049.4(GATA1):c.174G>A (p.Ala58=)	GATA1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 1563494	NM_002049.4(GATA1):c.599-9C>T	GATA1	Single nucleotide variant (intron variant)	Beta-thalassemia-X-linked thrombocytopenia syndrome +5 more	GBenign/Likely benign
Select item 1429222	NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)	GATA1 (R298Q)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +5 more	GUncertain significance
Select item 945514	NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)	GATA1 (K315R)	Single nucleotide variant (missense variant)	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia +5 more	GUncertain significance

ClinVar