"GeneDx"[submitter] AND "PRKCG"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 1260463	NC_000019.10:g.53882183A>C	PRKCG	Single nucleotide variant	not provided	GBenign
Select item 2579987	NM_002739.5(PRKCG):c.-192_-178del	PRKCG	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 3363592	NM_002739.5(PRKCG):c.42dup (p.Pro15fs)	PRKCG (P15fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 130037	NM_002739.5(PRKCG):c.72C>T (p.Ala24=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 42132	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	PRKCG (R41P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1712657	NM_002739.5(PRKCG):c.154T>C (p.Cys52Arg)	PRKCG (C52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338905	NM_002739.5(PRKCG):c.155G>T (p.Cys52Phe)	PRKCG (C52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246806	NM_002739.5(PRKCG):c.171-192G>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 42140	NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)	PRKCG (G63V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3365895	NM_002739.5(PRKCG):c.191T>C (p.Leu64Pro)	PRKCG (L64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574840	NM_002739.5(PRKCG):c.202G>A (p.Val68Ile)	PRKCG (V68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264868	NM_002739.5(PRKCG):c.203-202G>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244256	NM_002739.5(PRKCG):c.203-102A>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330057	NM_002739.5(PRKCG):c.207C>T (p.Cys69=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1700922	NM_002739.5(PRKCG):c.223C>T (p.Arg75Ter)	PRKCG (R75*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1698192	NM_002739.5(PRKCG):c.256C>G (p.Pro86Ala)	PRKCG (P86A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330058	NM_002739.5(PRKCG):c.285C>T (p.Asp95=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1230591	NM_002739.5(PRKCG):c.286-311G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230420	NM_002739.5(PRKCG):c.286-203dup	PRKCG	Duplication (intron variant)	not provided	GBenign
Select item 1241716	NM_002739.5(PRKCG):c.286-144C>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296123	NM_002739.5(PRKCG):c.286-66A>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579327	NM_002739.5(PRKCG):c.331C>G (p.Pro111Ala)	PRKCG (P111A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314858	NM_002739.5(PRKCG):c.341_356del (p.Cys114fs)	PRKCG (C114fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 13247	NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)	PRKCG (G118D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1305983	NM_002739.5(PRKCG):c.374T>A (p.Val125Glu)	PRKCG (V125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586451	NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg)	PRKCG (G128R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708844	NM_002739.5(PRKCG):c.475G>C (p.Gly159Arg)	PRKCG (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426509	NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg)	PRKCG (G159R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 436422	NM_002739.5(PRKCG):c.479G>T (p.Arg160Leu)	PRKCG (R160L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1253188	NM_002739.5(PRKCG):c.529+29G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295986	NM_002739.5(PRKCG):c.530-216dup	PRKCG	Duplication (intron variant)	not provided	GBenign
Select item 1695804	NM_002739.5(PRKCG):c.556A>G (p.Met186Val)	PRKCG (M186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136017	NM_002739.5(PRKCG):c.566A>G (p.Asn189Ser)	PRKCG (N189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130036	NM_002739.5(PRKCG):c.567T>C (p.Asn189=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2661947	NM_002739.5(PRKCG):c.641C>T (p.Thr214Met)	PRKCG (T214M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330063	NM_002739.5(PRKCG):c.686+14G>T	PRKCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1261137	NM_002739.5(PRKCG):c.687-147G>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579968	NM_002739.5(PRKCG):c.760G>A (p.Asp254Asn)	PRKCG (D254N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262543	NM_002739.5(PRKCG):c.821+107GC[3]	PRKCG	Microsatellite (intron variant)	not provided	GBenign
Select item 1704191	NM_002739.5(PRKCG):c.821+109_821+110del	PRKCG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1326164	NM_002739.5(PRKCG):c.821+110_821+111insGCACACACAC	PRKCG	Insertion (intron variant)	not provided	GLikely benign
Select item 1321481	NM_002739.5(PRKCG):c.821+109G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295030	NM_002739.5(PRKCG):c.821+110CA[15]	PRKCG	Microsatellite (intron variant)	not provided	GBenign
Select item 1343010	NM_002739.5(PRKCG):c.821+110CA[13]	PRKCG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1295861	NM_002739.5(PRKCG):c.821+110CA[12]	PRKCG	Microsatellite (intron variant)	not provided	GBenign
Select item 1241528	NM_002739.5(PRKCG):c.821+115A>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295708	NM_002739.5(PRKCG):c.821+130_821+131insGC	PRKCG	Insertion (intron variant)	not provided	GBenign
Select item 1326127	NM_002739.5(PRKCG):c.821+139_821+140del	PRKCG	Deletion (intron variant)	not provided	GLikely benign
Select item 1295711	NM_002739.5(PRKCG):c.821+139G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295446	NM_002739.5(PRKCG):c.821+149_821+154del	PRKCG	Deletion (intron variant)	not provided	GBenign
Select item 1228828	NM_002739.5(PRKCG):c.821+145A>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295710	NM_002739.5(PRKCG):c.821+150CA[5]	PRKCG	Microsatellite (intron variant)	not provided	GBenign
Select item 1335816	NM_002739.5(PRKCG):c.822-34C>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198564	NM_002739.5(PRKCG):c.878C>G (p.Ala293Gly)	PRKCG (A293G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1704786	NM_002739.5(PRKCG):c.895C>A (p.Leu299Ile)	PRKCG (L299I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261550	NM_002739.5(PRKCG):c.909+76_909+77del	PRKCG	Deletion (intron variant)	not provided	GBenign
Select item 420302	NM_002739.5(PRKCG):c.910-12_910-9del	PRKCG	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1342050	NM_002739.5(PRKCG):c.939+94A>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249484	NM_002739.5(PRKCG):c.940-211del	PRKCG	Deletion (intron variant)	not provided	GBenign
Select item 1691618	NM_002739.5(PRKCG):c.940-180C>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809877	NM_002739.5(PRKCG):c.976TCCCCT[3] (p.Pro331_Thr332insSerPro)	PRKCG	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3373767	NM_002739.5(PRKCG):c.989G>C (p.Ser330Thr)	PRKCG (S330T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343333	NM_002739.5(PRKCG):c.1004A>T (p.Lys335Met)	PRKCG (K335M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327348	NM_002739.5(PRKCG):c.1092+129C>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327355	NM_002739.5(PRKCG):c.1093-92G>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507049	NM_002739.5(PRKCG):c.1103C>T (p.Ala368Val)	PRKCG (A368V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364002	NM_002739.5(PRKCG):c.1154A>G (p.Asp385Gly)	PRKCG (D385G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448125	NM_002739.5(PRKCG):c.1192G>T (p.Val398Leu)	PRKCG (V398L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1315051	NM_002739.5(PRKCG):c.1201C>T (p.Arg401Cys)	PRKCG (R401C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1260448	NM_002739.5(PRKCG):c.1281+26T>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241274	NM_002739.5(PRKCG):c.1281+135T>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259569	NM_002739.5(PRKCG):c.1281+161_1281+164del	LOC121627888, PRKCG	Deletion (intron variant)	not provided	GBenign
Select item 1257715	NM_002739.5(PRKCG):c.1281+236A>T	LOC121627888, PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691201	NM_002739.5(PRKCG):c.1397T>C (p.Ile466Thr)	PRKCG (I466T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662547	NM_002739.5(PRKCG):c.1403T>C (p.Leu468Pro)	PRKCG (L468P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330065	NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1270032	NM_002739.5(PRKCG):c.1437-64T>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194378	NM_002739.5(PRKCG):c.1497T>C (p.Phe499=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3366013	NM_002739.5(PRKCG):c.1498G>A (p.Gly500Ser)	PRKCG (G500S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248729	NM_002739.5(PRKCG):c.1575+133T>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245091	NM_002739.5(PRKCG):c.1576-161A>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287120	NM_002739.5(PRKCG):c.1576-136T>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342051	NM_002739.5(PRKCG):c.1576-116G>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575709	NM_002739.5(PRKCG):c.1595A>G (p.Tyr532Cys)	PRKCG (Y532C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190530	NM_002739.5(PRKCG):c.1622T>G (p.Phe541Cys)	PRKCG (F541C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263969	NM_002739.5(PRKCG):c.1656+191A>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240843	NM_002739.5(PRKCG):c.1657-279T>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446334	NM_002739.5(PRKCG):c.1693C>G (p.Gln565Glu)	PRKCG (Q565E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330066	NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1223865	NM_002739.5(PRKCG):c.1728G>C (p.Lys576Asn)	PRKCG (K576N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256104	NM_002739.5(PRKCG):c.1764+1G>T	PRKCG	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1266144	NM_002739.5(PRKCG):c.1764+39_1764+40insT	PRKCG	Insertion (intron variant)	not provided	GBenign
Select item 1300928	NM_002739.5(PRKCG):c.1765-214del	PRKCG	Deletion (intron variant)	not provided	GLikely benign
Select item 1300902	NM_002739.5(PRKCG):c.1765-206_1765-192del	PRKCG	Deletion (intron variant)	not provided	GLikely benign
Select item 2136036	NM_002739.5(PRKCG):c.1765-197_1765-196insC	PRKCG	Insertion (intron variant)	not provided	GLikely benign
Select item 1331253	NM_002739.5(PRKCG):c.1765-59G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2572741	NM_002739.5(PRKCG):c.1789C>T (p.Arg597Cys)	PRKCG (R597C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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