ClinVar for Gene (Select 5294) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3257911	NM_001282426.2(PIK3CG):c.3062G>A (p.Arg1021His)	PIK3CG (R1021H)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257910	NM_001282426.2(PIK3CG):c.2545C>T (p.Arg849Ter)	PIK3CG (R849*)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 3256457	NM_001282426.2(PIK3CG):c.1499A>G (p.Asp500Gly)	PIK3CG (D500G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
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 3212972	NM_001282426.2(PIK3CG):c.676C>G (p.Arg226Gly)	PIK3CG (R226G)	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 3212969	NM_001282426.2(PIK3CG):c.205C>G (p.Gln69Glu)	PIK3CG (Q69E)	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 3212966	NM_001282426.2(PIK3CG):c.1611C>G (p.Asp537Glu)	PIK3CG (D537E)	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 3212964	NM_001282426.2(PIK3CG):c.1603A>G (p.Thr535Ala)	PIK3CG (T535A)	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 3212962	NM_001282426.2(PIK3CG):c.1109T>G (p.Ile370Ser)	PIK3CG (I370S)	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 3036816	NM_001282426.2(PIK3CG):c.3219A>G (p.Glu1073=)	PIK3CG	Single nucleotide variant (synonymous variant)	PIK3CG-related disorder	GLikely benign
Select item 3025030	NM_001282426.2(PIK3CG):c.1002C>T (p.Gly334=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688538	NM_001282426.2(PIK3CG):c.2392-21T>C	PIK3CG	Single nucleotide variant (intron 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 2688530	NM_001282426.2(PIK3CG):c.972A>G (p.Pro324=)	PIK3CG	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688415	NM_001282426.2(PIK3CG):c.1995+75A>G	PIK3CG	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688365	NM_001282426.2(PIK3CG):c.2025C>T (p.Ser675=)	PIK3CG	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 2657928	NM_001282426.2(PIK3CG):c.2697G>T (p.Thr899=)	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 2657926	NM_001282426.2(PIK3CG):c.2631A>G (p.Gly877=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657925	NM_001282426.2(PIK3CG):c.528G>T (p.Thr176=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657924	NM_001282426.2(PIK3CG):c.177G>C (p.Leu59=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2597755	NM_001282426.2(PIK3CG):c.2936A>G (p.Asn979Ser)	PIK3CG (N979S)	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 2539981	NM_001282426.2(PIK3CG):c.877G>A (p.Val293Met)	PIK3CG (V293M)	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 2527653	NM_001282426.2(PIK3CG):c.1133A>C (p.Asp378Ala)	PIK3CG (D378A)	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 2499053	NM_001282426.2(PIK3CG):c.135C>T (p.Pro45=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2493464	NM_001282426.2(PIK3CG):c.103A>G (p.Met35Val)	PIK3CG (M35V)	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
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 2477141	NM_001282426.2(PIK3CG):c.1381C>G (p.Leu461Val)	PIK3CG (L461V)	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 2471394	NM_001282426.2(PIK3CG):c.474T>G (p.Ile158Met)	PIK3CG (I158M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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	ATXN7L1, BCAP29 +23 more	Deletion	not provided	GPathogenic
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 2390803	NM_001282426.2(PIK3CG):c.2390C>T (p.Ala797Val)	PIK3CG (A797V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2365717	NM_001282426.2(PIK3CG):c.421C>A (p.His141Asn)	PIK3CG (H141N)	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 2357993	NM_001282426.2(PIK3CG):c.917T>A (p.Val306Glu)	PIK3CG (V306E)	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 2322283	NM_001282426.2(PIK3CG):c.1154C>T (p.Ala385Val)	PIK3CG (A385V)	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 2308031	NM_001282426.2(PIK3CG):c.2798C>G (p.Ala933Gly)	PIK3CG (A933G)	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 2240292	NM_001282426.2(PIK3CG):c.56G>A (p.Arg19Lys)	PIK3CG (R19K)	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 2208448	NM_001282426.2(PIK3CG):c.1072G>T (p.Asp358Tyr)	PIK3CG (D358Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1675220	NM_001282426.2(PIK3CG):c.145C>A (p.Arg49Ser)	PIK3CG	Single nucleotide variant (missense variant)	Immunodeficiency 97 with autoinflammation	GPathogenic
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 1675218	NM_001282426.2(PIK3CG):c.3062G>C (p.Arg1021Pro)	PIK3CG	Single nucleotide variant (missense variant)	Immunodeficiency 97 with autoinflammation	GPathogenic
Select item 1675217	NM_001282426.2(PIK3CG):c.2944del (p.Arg982fs)	PIK3CG (R982fs)	Deletion (frameshift variant)	not specified	GUncertain significance
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 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 1331023	NM_001282426.2(PIK3CG):c.1565A>G (p.Asn522Ser)	PIK3CG (N522S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1270269	NM_001282426.2(PIK3CG):c.1325C>A (p.Ser442Tyr)	PIK3CG (S442Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 995586	NM_001282426.2(PIK3CG):c.2760+20C>T	PIK3CG	Single nucleotide variant (intron 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 994078	NM_001282426.2(PIK3CG):c.1527C>A (p.Asp509Glu)	PIK3CG (D509E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 973659	NM_001282426.2(PIK3CG):c.1540A>G (p.Met514Val)	PIK3CG (M514V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 811758	NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu)	PIK3CG (P538L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 792085	NM_001282426.2(PIK3CG):c.1927A>G (p.Ile643Val)	PIK3CG (I643V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783503	NM_001282426.2(PIK3CG):c.711C>T (p.Pro237=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 741913	NM_001282426.2(PIK3CG):c.258C>T (p.Asp86=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740172	NM_001282426.2(PIK3CG):c.1299C>A (p.Ile433=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738973	NM_001282426.2(PIK3CG):c.18T>C (p.Tyr6=)	PIK3CG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 715611	NM_001282426.2(PIK3CG):c.989C>T (p.Thr330Met)	PIK3CG (T330M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 545129	NM_001282426.2(PIK3CG):c.711del (p.Asp238fs)	PIK3CG (D238fs)	Deletion (frameshift variant)	Keratoconus	GUncertain significance
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
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 207896	NM_001282426.2(PIK3CG):c.574G>A (p.Asp192Asn)	PIK3CG (D192N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic

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