ClinVar for MedGen (Select 1843134) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998061	NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)	SETD2 (R397* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute megakaryoblastic leukemia without down syndrome	GLikely pathogenic
Select item 998060	NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)	SETD2 (W1262* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute megakaryoblastic leukemia without down syndrome	GLikely pathogenic
Select item 998059	t(11;17)(q23;q12-q21)	KMT2A, MLLT6	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998058	t(16;16)(p13.3;q24.3)	CBFA2T3	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998057	inv(16)(p13.3q24.3)	CBFA2T3	Inversion	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998056	t(11;12)(p15;p13)	KDM5A, NUP98	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 268131	NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	EPOR (W439*)	Single nucleotide variant (nonsense +1 more)	Acute megakaryoblastic leukemia without down syndrome	GLikely pathogenic

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