"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982699	NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter)	PIK3R1 (Q221*)	Single nucleotide variant (nonsense)	Immunodeficiency 36	GUncertain significance
Select item 976243	NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del)	PIK3R1	Deletion (inframe_deletion)	SHORT syndrome	GLikely pathogenic
Select item 60763	NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)	PIK3R1 (R649W +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +4 more	GPathogenic/Likely pathogenic

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ClinVar