"Baylor Genetics"[submitter] AND "PIK3CD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582528	NM_005026.5(PIK3CD):c.266_273del (p.Leu89fs)	PIK3CD (L89fs)	Deletion (frameshift variant)	Immunodeficiency 14b, autosomal recessive	GLikely pathogenic
Select item 3237514	NM_005026.5(PIK3CD):c.317dup (p.Asp107fs)	PIK3CD (D107fs)	Duplication (frameshift variant)	Immunodeficiency 14b, autosomal recessive	GLikely pathogenic
Select item 850940	NM_005026.5(PIK3CD):c.971G>A (p.Arg324His)	PIK3CD (R324H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1032966	NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr)	LOC126805612, PIK3CD (A479T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1032967	NM_005026.5(PIK3CD):c.1955+15C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GConflicting classifications of pathogenicity
Select item 88675	NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD (E1021K +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic

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