"Genetic Services Laboratory, University of Chicago"[submitter] AND "P - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443207	NM_005026.5(PIK3CD):c.292G>A (p.Val98Ile)	PIK3CD (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338106	NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys)	PIK3CD (R108C)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 474031	NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile)	PIK3CD (F146I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2414651	NM_005026.5(PIK3CD):c.454G>A (p.Ala152Thr)	PIK3CD (A152T)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 474034	NM_005026.5(PIK3CD):c.708G>A (p.Pro236=)	PIK3CD	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 474022	NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)	PIK3CD	Single nucleotide variant (synonymous variant)	PIK3CD-related disorder +4 more	GBenign
Select item 1337617	NM_005026.5(PIK3CD):c.1020+10C>T	PIK3CD	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 971212	NM_005026.5(PIK3CD):c.1108G>A (p.Val370Met)	LOC126805612, PIK3CD (V341M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 474023	NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala)	LOC126805612, PIK3CD (T456A +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder +2 more	GBenign
Select item 733634	NM_005026.5(PIK3CD):c.1503G>A (p.Val501=)	PIK3CD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 730185	NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GBenign/Likely benign
Select item 736340	NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GBenign/Likely benign
Select item 788173	NM_005026.5(PIK3CD):c.2265G>A (p.Lys755=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +2 more	GLikely benign
Select item 541088	NM_005026.5(PIK3CD):c.2454C>T (p.Thr818=)	PIK3CD	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 733552	NM_005026.5(PIK3CD):c.2631C>G (p.Leu877=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 440068	NM_005026.5(PIK3CD):c.2820T>C (p.His940=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +3 more	GBenign/Likely benign
Select item 1337907	NM_005026.5(PIK3CD):c.2911G>A (p.Gly971Arg)	PIK3CD (G942R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 618792	NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +2 more	GLikely benign