ClinVar for MedGen (Select 763770) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671636	NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)	GATA1 (A59fs)	Duplication (frameshift variant)	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	GLikely pathogenic
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 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 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
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 156266	NM_002049.4(GATA1):c.220G>C (p.Val74Leu)	GATA1	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 156265	NM_002049.4(GATA1):c.2T>C (p.Met1Thr)	GATA1 (M1T)	Single nucleotide variant (missense variant +1 more)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 31943	NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	GATA1	Single nucleotide variant (missense variant)	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia +2 more	GLikely pathogenic
Select item 31942	NM_002049.4(GATA1):c.220+1del	GATA1	Deletion (splice donor variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 10428	NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	GATA1	Single nucleotide variant (missense variant)	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia +4 more	GPathogenic