"Bone Marrow Failure laboratory, Queen Mary University London"[submitt - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1013621	NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs)	RUNX1 (G336fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1013620	NM_001754.5(RUNX1):c.588del (p.Val197fs)	RUNX1, RUNX1-AS1 (V170fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 561236	NM_001754.5(RUNX1):c.351+1G>A	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1013619	NM_001754.5(RUNX1):c.165dup (p.Leu56fs)	RUNX1 (L29fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1013624	Single allele	RUNX1	Deletion	Acute myeloid leukemia	GLikely pathogenic
Select item 1013623	Single allele	RUNX1	Deletion	Acute myeloid leukemia	GLikely pathogenic
Select item 1013622	Single allele	RUNX1	Deletion	Thrombocytopenia	GLikely pathogenic

ClinVar