"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626989	NM_000185.4(SERPIND1):c.1333G>C (p.Val445Leu)	PI4KA, SERPIND1 (V445L)	Single nucleotide variant (missense variant +1 more)	Thrombotic stroke	GUncertain significance
Select item 627233	NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile)	PI4KA, SERPIND1 (T470I)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis	GUncertain significance
Select item 827754	Single allele	USP41, ZDHHC8 +46 more	Deletion	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 627510	Single allele	ARVCF, COMT +24 more	Deletion	Deep venous thrombosis	GLikely pathogenic
Select item 627506	Single allele	ARVCF, COMT +24 more	Deletion	Abnormal bleeding	GLikely pathogenic

ClinVar