"Ambry Genetics"[submitter] AND "PIK3CG"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2240292	NM_001282426.2(PIK3CG):c.56G>A (p.Arg19Lys)	PIK3CG (R19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493464	NM_001282426.2(PIK3CG):c.103A>G (p.Met35Val)	PIK3CG (M35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212965	NM_001282426.2(PIK3CG):c.160C>G (p.Pro54Ala)	PIK3CG (P54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212969	NM_001282426.2(PIK3CG):c.205C>G (p.Gln69Glu)	PIK3CG (Q69E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394478	NM_001282426.2(PIK3CG):c.235C>A (p.Leu79Met)	PIK3CG (L79M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511552	NM_001282426.2(PIK3CG):c.322G>C (p.Glu108Gln)	PIK3CG (E108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493506	NM_001282426.2(PIK3CG):c.331G>C (p.Asp111His)	PIK3CG (D111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369952	NM_001282426.2(PIK3CG):c.368G>A (p.Arg123His)	PIK3CG (R123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599675	NM_001282426.2(PIK3CG):c.397G>A (p.Gly133Ser)	PIK3CG (G133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358895	NM_001282426.2(PIK3CG):c.412G>A (p.Val138Met)	PIK3CG (V138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365717	NM_001282426.2(PIK3CG):c.421C>A (p.His141Asn)	PIK3CG (H141N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471394	NM_001282426.2(PIK3CG):c.474T>G (p.Ile158Met)	PIK3CG (I158M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529609	NM_001282426.2(PIK3CG):c.557C>A (p.Ala186Glu)	PIK3CG (A186E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212972	NM_001282426.2(PIK3CG):c.676C>G (p.Arg226Gly)	PIK3CG (R226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212973	NM_001282426.2(PIK3CG):c.854C>T (p.Thr285Met)	PIK3CG (T285M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539981	NM_001282426.2(PIK3CG):c.877G>A (p.Val293Met)	PIK3CG (V293M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357993	NM_001282426.2(PIK3CG):c.917T>A (p.Val306Glu)	PIK3CG (V306E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208448	NM_001282426.2(PIK3CG):c.1072G>T (p.Asp358Tyr)	PIK3CG (D358Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212960	NM_001282426.2(PIK3CG):c.1107T>A (p.Asp369Glu)	PIK3CG (D369E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212962	NM_001282426.2(PIK3CG):c.1109T>G (p.Ile370Ser)	PIK3CG (I370S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315419	NM_001282426.2(PIK3CG):c.1129A>G (p.Thr377Ala)	PIK3CG (T377A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527653	NM_001282426.2(PIK3CG):c.1133A>C (p.Asp378Ala)	PIK3CG (D378A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322283	NM_001282426.2(PIK3CG):c.1154C>T (p.Ala385Val)	PIK3CG (A385V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212963	NM_001282426.2(PIK3CG):c.1161C>G (p.Ile387Met)	PIK3CG (I387M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477141	NM_001282426.2(PIK3CG):c.1381C>G (p.Leu461Val)	PIK3CG (L461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973659	NM_001282426.2(PIK3CG):c.1540A>G (p.Met514Val)	PIK3CG (M514V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212964	NM_001282426.2(PIK3CG):c.1603A>G (p.Thr535Ala)	PIK3CG (T535A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212966	NM_001282426.2(PIK3CG):c.1611C>G (p.Asp537Glu)	PIK3CG (D537E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212968	NM_001282426.2(PIK3CG):c.1686T>A (p.Asp562Glu)	PIK3CG (D562E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273584	NM_001282426.2(PIK3CG):c.1714A>G (p.Lys572Glu)	PIK3CG (K572E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483795	NM_001282426.2(PIK3CG):c.1850G>C (p.Trp617Ser)	PIK3CG (W617S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331363	NM_001282426.2(PIK3CG):c.1867G>A (p.Asp623Asn)	PIK3CG (D623N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476096	NM_001282426.2(PIK3CG):c.2014T>C (p.Tyr672His)	PIK3CG (Y672H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215945	NM_001282426.2(PIK3CG):c.2140G>A (p.Ala714Thr)	PIK3CG (A714T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212970	NM_001282426.2(PIK3CG):c.2246T>G (p.Ile749Ser)	PIK3CG (I749S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540065	NM_001282426.2(PIK3CG):c.2278A>G (p.Ser760Gly)	PIK3CG (S760G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306618	NM_001282426.2(PIK3CG):c.2327A>G (p.Asn776Ser)	PIK3CG (N776S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390803	NM_001282426.2(PIK3CG):c.2390C>T (p.Ala797Val)	PIK3CG (A797V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2430331	NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)	PIK3CG (F832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2308031	NM_001282426.2(PIK3CG):c.2798C>G (p.Ala933Gly)	PIK3CG (A933G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597755	NM_001282426.2(PIK3CG):c.2936A>G (p.Asn979Ser)	PIK3CG (N979S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484843	NM_001282426.2(PIK3CG):c.3085A>G (p.Ile1029Val)	PIK3CG (I1029V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 42