"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331053	NM_001282426.2(PIK3CG):c.1076G>A (p.Arg359His)	PIK3CG (R359H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994079	NM_001282426.2(PIK3CG):c.1307G>A (p.Gly436Asp)	PIK3CG (G436D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812036	NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter)	PIK3CG (Q494*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 994078	NM_001282426.2(PIK3CG):c.1527C>A (p.Asp509Glu)	PIK3CG (D509E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331023	NM_001282426.2(PIK3CG):c.1565A>G (p.Asn522Ser)	PIK3CG (N522S)	Single nucleotide variant (missense variant)	Immunodeficiency 97 with autoinflammation	GBenign
Select item 811758	NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu)	PIK3CG (P538L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775252	NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 993884	NM_001282426.2(PIK3CG):c.2455G>A (p.Asp819Asn)	PIK3CG (D819N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995586	NM_001282426.2(PIK3CG):c.2760+20C>T	PIK3CG	Single nucleotide variant (intron variant)	not provided	GLikely benign