"BloodGenetics"[submitter] AND "RACGAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344520	NM_001319999.2(RACGAP1):c.1294C>T (p.Pro432Ser)	RACGAP1 (P432S +3 more)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type IIIb +1 more	GPathogenic
Select item 1693582	NM_001319999.2(RACGAP1):c.658A>G (p.Thr220Ala)	RACGAP1 (T146A +3 more)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type IIIb +1 more	GPathogenic