"OMIM"[submitter] AND "RUNX1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14467	NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter)	RUNX1 (Y260* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14464	NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)	RUNX1, RUNX1-AS1 (R201Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14466	NM_001754.5(RUNX1):c.508+3del	RUNX1, RUNX1-AS1	Deletion (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14471	NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu)	RUNX1, RUNX1-AS1 (A129E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 14470	NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)	RUNX1, RUNX1-AS1 (T121fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14468	NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro)	RUNX1, RUNX1-AS1 (A107P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14463	NM_001754.4(RUNX1):c.352-1G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14465	NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)	RUNX1 (K83E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 14469	NM_001754.5(RUNX1):c.253C>A (p.His85Asn)	RUNX1 (H58N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign FDA Recognized database