Related gene-specific medical variations for Gene (Select 7514) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2263176	NM_003400.4(XPO1):c.2986C>G (p.Leu996Val)	USP34-DT, XPO1 (L996V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257298	NM_003400.4(XPO1):c.3092C>T (p.Ser1031Phe)	USP34-DT, XPO1 (S1031F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748180	NM_003400.4(XPO1):c.2812+7A>T	USP34-DT, XPO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 549585	NC_000002.11:g.61795359_61831792del36434	XPO1	Deletion	Primary amenorrhea	GUncertain significance
Select item 376697	NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)	XPO1 (E571A)	Single nucleotide variant (missense variant)	B-cell chronic lymphocytic leukemia +4 more	GLikely pathogenic
Select item 376696	NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)	XPO1 (E571V)	Single nucleotide variant (missense variant)	B-cell chronic lymphocytic leukemia +4 more	GLikely pathogenic
Select item 376695	NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)	XPO1 (E571K)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 135493	NM_003400.4(XPO1):c.1159T>C (p.Ser387Pro)	XPO1 (S387P)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133433	NM_003400.4(XPO1):c.1385-49A>G	XPO1	Single nucleotide variant (intron variant)	not specified	Gnot provided

ClinVar