ClinVar for MedGen (Select 400240) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1399872	NM_002049.4(GATA1):c.920G>A (p.Arg307His)	GATA1 (R307H)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 373400	NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)	GATA1 (R307C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance