"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 438149	NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg)	CYP4V2 (M66R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 813261	Single allele	CYP4V2, F11 +1 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic