PIK3CG[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 738973	NM_001282426.2(PIK3CG):c.18T>C (p.Tyr6=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2499053	NM_001282426.2(PIK3CG):c.135C>T (p.Pro45=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675220	NM_001282426.2(PIK3CG):c.145C>A (p.Arg49Ser)	PIK3CG	Single nucleotide variant (missense variant)	Immunodeficiency 97 with autoinflammation	GPathogenic
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 2657924	NM_001282426.2(PIK3CG):c.177G>C (p.Leu59=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 741913	NM_001282426.2(PIK3CG):c.258C>T (p.Asp86=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 733484	NM_001282426.2(PIK3CG):c.390G>C (p.Arg130=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2657925	NM_001282426.2(PIK3CG):c.528G>T (p.Thr176=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 207896	NM_001282426.2(PIK3CG):c.574G>A (p.Asp192Asn)	PIK3CG (D192N)	Single nucleotide variant (missense variant)	Long QT syndrome	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 545129	NM_001282426.2(PIK3CG):c.711del (p.Asp238fs)	PIK3CG (D238fs)	Deletion (frameshift variant)	Keratoconus	GUncertain significance
Select item 783503	NM_001282426.2(PIK3CG):c.711C>T (p.Pro237=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2688530	NM_001282426.2(PIK3CG):c.972A>G (p.Pro324=)	PIK3CG	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688531	NM_001282426.2(PIK3CG):c.981T>C (p.Asp327=)	PIK3CG	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 715611	NM_001282426.2(PIK3CG):c.989C>T (p.Thr330Met)	PIK3CG (T330M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3025030	NM_001282426.2(PIK3CG):c.1002C>T (p.Gly334=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1331053	NM_001282426.2(PIK3CG):c.1076G>A (p.Arg359His)	PIK3CG (R359H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	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 740172	NM_001282426.2(PIK3CG):c.1299C>A (p.Ile433=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1270269	NM_001282426.2(PIK3CG):c.1325C>A (p.Ser442Tyr)	PIK3CG (S442Y)	Single nucleotide variant (missense variant)	not provided	GBenign
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 219323	NM_001282426.2(PIK3CG):c.1414C>T (p.Arg472Cys)	PIK3CG (R472C)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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 973659	NM_001282426.2(PIK3CG):c.1540A>G (p.Met514Val)	PIK3CG (M514V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 811758	NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu)	PIK3CG (P538L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 792085	NM_001282426.2(PIK3CG):c.1927A>G (p.Ile643Val)	PIK3CG (I643V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2688415	NM_001282426.2(PIK3CG):c.1995+75A>G	PIK3CG	Single nucleotide variant (intron variant)	not specified	GBenign
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 2688365	NM_001282426.2(PIK3CG):c.2025C>T (p.Ser675=)	PIK3CG	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 714354	NM_001282426.2(PIK3CG):c.2369G>T (p.Gly790Val)	PIK3CG (G790V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2688538	NM_001282426.2(PIK3CG):c.2392-21T>C	PIK3CG	Single nucleotide variant (intron variant)	not specified	GBenign
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 2430331	NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)	PIK3CG (F832L)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 2657926	NM_001282426.2(PIK3CG):c.2631A>G (p.Gly877=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657927	NM_001282426.2(PIK3CG):c.2652C>T (p.Asp884=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657928	NM_001282426.2(PIK3CG):c.2697G>T (p.Thr899=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995586	NM_001282426.2(PIK3CG):c.2760+20C>T	PIK3CG	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1675217	NM_001282426.2(PIK3CG):c.2944del (p.Arg982fs)	PIK3CG (R982fs)	Deletion (frameshift variant)	Immunodeficiency 97 with autoinflammation	GPathogenic
Select item 1675218	NM_001282426.2(PIK3CG):c.3062G>C (p.Arg1021Pro)	PIK3CG	Single nucleotide variant (missense variant)	Immunodeficiency 97 with autoinflammation	GPathogenic
Select item 2484843	NM_001282426.2(PIK3CG):c.3085A>G (p.Ile1029Val)	PIK3CG (I1029V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036816	NM_001282426.2(PIK3CG):c.3219A>G (p.Glu1073=)	PIK3CG	Single nucleotide variant (synonymous variant)	PIK3CG-related disorder	GLikely benign
Select item 1675219	NM_001282426.2(PIK3CG):c.3254A>G (p.Asn1085Ser)	PIK3CG	Single nucleotide variant (missense variant)	Immunodeficiency 97 with autoinflammation	GPathogenic
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 99