"Ambry Genetics"[submitter] AND "PIK3R1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2534971	NM_181523.3(PIK3R1):c.473T>C (p.Leu158Pro)	PIK3R1 (L158P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2303792	NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)	PIK3R1 (K249R)	Single nucleotide variant (missense variant)	SHORT syndrome +3 more	GUncertain significance
Select item 834213	NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)	PIK3R1 (S251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1444001	NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu)	PIK3R1 (F275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2266107	NM_181523.3(PIK3R1):c.925C>G (p.Pro309Ala)	PIK3R1 (P39A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372467	NM_181523.3(PIK3R1):c.1425+1G>A	PIK3R1	Single nucleotide variant (splice donor variant)	PIK3R1-related condition +7 more	GPathogenic/Likely pathogenic
Select item 156009	NM_181523.3(PIK3R1):c.1425+1G>C	PIK3R1	Single nucleotide variant (splice donor variant)	not specified +5 more	GPathogenic
Select item 2557137	NM_181523.3(PIK3R1):c.1538A>G (p.Lys513Arg)	PIK3R1 (K150R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 60761	NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del)	PIK3R1 (I539del +3 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 60763	NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)	PIK3R1 (R649W +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +4 more	GPathogenic/Likely pathogenic