ClinVar for MedGen (Select 763703) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578025	NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)	GATA1 (T296P)	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	GPathogenic
Select item 1705842	NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)	GATA1 (A227T)	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	GUncertain significance
Select item 1703852	NM_002049.4(GATA1):c.865C>T (p.His289Tyr)	GATA1 (H289Y)	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	GPathogenic
Select item 1563494	NM_002049.4(GATA1):c.599-9C>T	GATA1	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +5 more	GBenign/Likely benign
Select item 1429222	NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)	GATA1 (R298Q)	Single nucleotide variant (missense variant)	Complete trisomy 21 syndrome +5 more	GUncertain significance
Select item 952388	NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	GATA1 (S12*)	Single nucleotide variant (nonsense)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +6 more	GPathogenic/Likely pathogenic
Select item 945514	NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)	GATA1 (K315R)	Single nucleotide variant (missense variant)	Complete trisomy 21 syndrome +5 more	GUncertain significance
Select item 627352	NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)	GATA1 (D218N)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity
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 156270	NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)	GATA1	Single nucleotide variant (stop lost)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	GLikely pathogenic
Select item 156268	NM_002049.4(GATA1):c.622G>C (p.Gly208Arg)	GATA1	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	Gnot provided
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)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 31943	NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	GATA1	Single nucleotide variant (missense variant)	GATA1-related condition +2 more	GLikely pathogenic
Select item 31942	NM_002049.4(GATA1):c.220+1del	GATA1	Deletion (splice donor variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic
Select item 10428	NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	GATA1	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 10427	NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)	GATA1	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with dyserythropoietic anemia	GPathogenic
Select item 10425	NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)	GATA1 (G208S)	Indel (missense variant)	Thrombocytopenia, X-linked, without dyserythropoietic anemia	GPathogenic
Select item 10424	NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)	GATA1	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GPathogenic/Likely pathogenic
Select item 10423	NM_002049.4(GATA1):c.613G>A (p.Val205Met)	GATA1	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with dyserythropoietic anemia	GPathogenic

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Items: 21