"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 827732	NM_181523.3(PIK3R1):c.1300-2A>G	PIK3R1	Single nucleotide variant (splice acceptor variant)	SHORT syndrome +3 more	GLikely pathogenic
Select item 827733	NM_181523.3(PIK3R1):c.1422_1425+1del	PIK3R1	Deletion (splice donor variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 372467	NM_181523.3(PIK3R1):c.1425+1G>A	PIK3R1	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +6 more	GPathogenic/Likely pathogenic

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