"Ambry Genetics"[submitter] AND "P3R3URF-PIK3R3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2309563	NM_003629.4(PIK3R3):c.1319A>G (p.His440Arg)	PIK3R3, P3R3URF-PIK3R3 (H381R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250510	NM_003629.4(PIK3R3):c.1232G>A (p.Arg411Gln)	PIK3R3, P3R3URF-PIK3R3 (R255Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508350	NM_003629.4(PIK3R3):c.1192G>A (p.Asp398Asn)	P3R3URF-PIK3R3, PIK3R3 (D339N +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496044	NM_003629.4(PIK3R3):c.1130A>T (p.Asp377Val)	P3R3URF-PIK3R3, PIK3R3 (D318V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404776	NM_003629.4(PIK3R3):c.832G>C (p.Glu278Gln)	PIK3R3, P3R3URF-PIK3R3 (E234Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2621183	NM_003629.4(PIK3R3):c.548A>G (p.Glu183Gly)	P3R3URF-PIK3R3, PIK3R3 (E139G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292666	NM_003629.4(PIK3R3):c.425A>G (p.His142Arg)	P3R3URF-PIK3R3, PIK3R3 (H142R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295408	NM_003629.4(PIK3R3):c.421C>G (p.His141Asp)	P3R3URF-PIK3R3, PIK3R3 (H141D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261274	NM_003629.4(PIK3R3):c.269G>A (p.Arg90Gln)	P3R3URF-PIK3R3, PIK3R3 (R136Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296596	NM_003629.4(PIK3R3):c.250G>A (p.Asp84Asn)	PIK3R3, P3R3URF-PIK3R3 (D40N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance