"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "RUN - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 858173	NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn)	RUNX1 (D282N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 464003	NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)	RUNX1 (G24R)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance

ClinVar