ClinVar for OMIM (Select 601950) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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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