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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827698	NC_000002.12:g.203867482_203869297del	CTLA4	Deletion	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827699	NC_000002.12:g.203870597_203875386del	LOC129935461, LOC129935462 +1 more	Deletion	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827700	NM_005214.5(CTLA4):c.127C>G (p.Pro43Ala)	CTLA4 (P43A)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 811325	NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	CTLA4 (R70Q)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 827701	NM_005214.5(CTLA4):c.410C>G (p.Pro137Arg)	CTLA4 (P137R)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic

ClinVar