"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126805 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787204	NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1399114	NM_005026.5(PIK3CD):c.1121G>A (p.Arg374Gln)	PIK3CD, LOC126805612 (R374Q +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder +1 more	GUncertain significance
Select item 2152846	NM_005026.5(PIK3CD):c.1269C>T (p.Leu423=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 1565695	NM_005026.5(PIK3CD):c.1290C>T (p.Asp430=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 2635780	NM_005026.5(PIK3CD):c.1306G>A (p.Glu436Lys)	LOC126805612, PIK3CD (E407K +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder	GUncertain significance
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 709503	NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)	LOC126805612, PIK3CD (T436M +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder +4 more	GBenign/Likely benign
Select item 1061373	NM_005026.5(PIK3CD):c.1402G>A (p.Ala468Thr)	LOC126805612, PIK3CD (A439T +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder +1 more	GUncertain significance
Select item 1078408	NM_005026.5(PIK3CD):c.1446C>T (p.Pro482=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	PIK3CD-related disorder +1 more	GLikely benign