"Ambry Genetics"[submitter] AND "PIK3R2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547435	NM_005027.4(PIK3R2):c.34C>G (p.Leu12Val)	PIK3R2 (L12V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1565321	NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys)	PIK3R2 (R16C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1417925	NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser)	PIK3R2 (G28S)	Single nucleotide variant (non-coding transcript variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GUncertain significance
Select item 2228098	NM_005027.4(PIK3R2):c.149G>A (p.Cys50Tyr)	PIK3R2 (C50Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312088	NM_005027.4(PIK3R2):c.254G>A (p.Arg85Gln)	PIK3R2 (R85Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1392796	NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp)	PIK3R2 (R91W)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GUncertain significance
Select item 2561133	NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)	PIK3R2 (R94C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2470134	NM_005027.4(PIK3R2):c.284C>T (p.Pro95Leu)	PIK3R2 (P95L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 969916	NM_005027.4(PIK3R2):c.302G>A (p.Arg101His)	PIK3R2 (R101H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2262556	NM_005027.4(PIK3R2):c.305A>C (p.Asp102Ala)	PIK3R2 (D102A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611332	NM_005027.4(PIK3R2):c.325C>T (p.Leu109Phe)	PIK3R2 (L109F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474819	NM_005027.4(PIK3R2):c.329C>T (p.Thr110Ile)	PIK3R2 (T110I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 864121	NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro)	PIK3R2 (L127P)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GUncertain significance
Select item 2352378	NM_005027.4(PIK3R2):c.404T>C (p.Ile135Thr)	PIK3R2 (I135T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2212053	NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser)	LOC130063979, PIK3R2 (G173S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1954122	NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)	LOC130063979, PIK3R2 (R199W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2541947	NM_005027.4(PIK3R2):c.688G>A (p.Gly230Ser)	LOC130063979, PIK3R2 (G230S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1347474	NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly)	LOC130063979, PIK3R2 (V232G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2622695	NM_005027.4(PIK3R2):c.731G>T (p.Arg244Leu)	LOC130063979, PIK3R2 (R244L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297206	NM_005027.4(PIK3R2):c.780GCCGTCCTCGCCGCCGCC[6] (p.Pro266_Gly267insProSerSerProProProProSerSerProProProProSerSerProProProProSerSerProProProProSerSerProProPro)	LOC130063979, PIK3R2	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2086146	NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)	PIK3R2 (S276N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2334316	NM_005027.4(PIK3R2):c.866A>G (p.Gln289Arg)	PIK3R2 (Q289R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718195	NM_005027.4(PIK3R2):c.872A>G (p.His291Arg)	PIK3R2 (H291R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2070125	NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)	PIK3R2 (I335V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 39808	NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	PIK3R2 (G373R)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 2479738	NM_005027.4(PIK3R2):c.1180A>G (p.Thr394Ala)	PIK3R2 (T394A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603771	NM_005027.4(PIK3R2):c.1211A>C (p.His404Pro)	PIK3R2 (H404P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1296705	NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr)	PIK3R2 (A415T)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 2613956	NM_005027.4(PIK3R2):c.1337T>C (p.Leu446Pro)	PIK3R2 (L446P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387831	NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)	PIK3R2 (R508C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GUncertain significance
Select item 2336273	NM_005027.4(PIK3R2):c.1600G>C (p.Glu534Gln)	PIK3R2 (E534Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402561	NM_005027.4(PIK3R2):c.1735G>A (p.Val579Met)	PIK3R2 (V579M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230704	NM_005027.4(PIK3R2):c.1831G>A (p.Glu611Lys)	PIK3R2 (E611K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464784	NM_005027.4(PIK3R2):c.1846C>T (p.His616Tyr)	PIK3R2 (H616Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292612	NM_005027.4(PIK3R2):c.1865G>C (p.Trp622Ser)	PIK3R2 (W622S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251210	NM_005027.4(PIK3R2):c.1957G>A (p.Gly653Ser)	PIK3R2 (G653S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373290	NM_005027.4(PIK3R2):c.1964A>G (p.Tyr655Cys)	PIK3R2 (Y655C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393963	NM_005027.4(PIK3R2):c.2099del (p.Ser700fs)	PIK3R2 (S700fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1902575	NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)	PIK3R2 (A718V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 39