C1832388[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 840865	NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu)	RUNX1 (S397L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 561225	NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter)	RUNX1 (Q415* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 532656	NM_001754.5(RUNX1):c.1054G>A (p.Ala352Thr)	RUNX1 (A352T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 239055	NM_001754.5(RUNX1):c.749G>A (p.Arg250His)	RUNX1 (R250H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 239053	NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys)	RUNX1 (E223K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 239044	NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)	RUNX1 (M52K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database

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