"GeneDx"[submitter] AND "SF3B2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706330	NM_006842.3(SF3B2):c.401G>C (p.Arg134Pro)	SF3B2 (R134P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256743	NM_006842.3(SF3B2):c.1215G>A (p.Lys405=)	SF3B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2577691	NM_006842.3(SF3B2):c.1274A>G (p.Glu425Gly)	SF3B2 (E425G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305380	NM_006842.3(SF3B2):c.1411C>T (p.Arg471Trp)	SF3B2 (R471W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699822	NM_006842.3(SF3B2):c.1424T>C (p.Val475Ala)	SF3B2 (V475A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252661	NM_006842.3(SF3B2):c.1549A>G (p.Ile517Val)	SF3B2 (I517V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307153	NM_006842.3(SF3B2):c.1608dup (p.Arg537fs)	SF3B2 (R537fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2505738	NM_006842.3(SF3B2):c.1736A>C (p.Gln579Pro)	SF3B2 (Q579P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar