"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376018	NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)	RUNX1-AS1, RUNX1 (R201* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 3068261	NM_001754.5(RUNX1):c.465_467dup (p.Ala156_Arg157insAla)	RUNX1, RUNX1-AS1	Duplication (inframe_insertion)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance

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