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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827754	Single allele	USP41, ZDHHC8 +46 more	Deletion	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 812930	NC_000022.11:g.20042177_20075233del	TANGO2	Deletion	Hereditary episodic ataxia +2 more	GPathogenic
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

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ClinVar