ClinVar for MedGen (Select 1672503) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666272	NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)	MAP2K2 (P128L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 666271	NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile)	MPEG1 (L221I)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 666270	NM_014727.3(KMT2B):c.1108_1109del (p.Glu370fs)	KMT2B (E370fs)	Deletion (frameshift variant)	Castleman-Kojima disease	GUncertain significance
Select item 666269	NM_152641.4(ARID2):c.3577A>G (p.Thr1193Ala)	ARID2 (T1193A)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 666268	NM_003200.5(TCF3):c.1040A>C (p.Asn347Thr)	TCF3 (N347T)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 436618	NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys)	RUNX1 (G87C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 9861	NM_000044.6(AR):c.1937C>A (p.Ala646Asp)	AR (A114D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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