ClinVar for Gene (Select 5582) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218774	NM_002739.5(PRKCG):c.994A>C (p.Thr332Pro)	PRKCG (T332P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218773	NM_002739.5(PRKCG):c.47G>A (p.Arg16Gln)	PRKCG (R16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218772	NM_002739.5(PRKCG):c.1063A>G (p.Met355Val)	PRKCG (M355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068993	NM_002739.5(PRKCG):c.1572G>A (p.Pro524=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067485	NM_002739.5(PRKCG):c.585T>C (p.Tyr195=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042403	NM_002739.5(PRKCG):c.811G>T (p.Val271Leu)	PRKCG (V271L)	Single nucleotide variant (missense variant)	PRKCG-related condition	GBenign
Select item 3038206	NM_002739.5(PRKCG):c.170+9A>T	PRKCG	Single nucleotide variant (intron variant)	PRKCG-related condition	GLikely benign
Select item 3034643	NM_002739.5(PRKCG):c.1818T>A (p.Pro606=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related condition	GLikely benign
Select item 3030386	NM_002739.5(PRKCG):c.879T>C (p.Ala293=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related condition	GLikely benign
Select item 2691281	NM_002739.5(PRKCG):c.-12G>T	PRKCG	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2684893	GRCh37/hg19 19q13.42(chr19:53963333-54421591)x3	CACNG7, DPRX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684343	NM_002739.5(PRKCG):c.8G>A (p.Gly3Asp)	PRKCG (G3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684342	NM_002739.5(PRKCG):c.70_72delinsCCT (p.Ala24Pro)	PRKCG (A24P)	Indel (missense variant)	not provided	GUncertain significance
Select item 2684341	NM_002739.5(PRKCG):c.425G>A (p.Cys142Tyr)	PRKCG (C142Y)	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 2661947	NM_002739.5(PRKCG):c.641C>T (p.Thr214Met)	PRKCG (T214M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650414	NM_002739.5(PRKCG):c.*432G>A	PRKCG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2650413	NM_002739.5(PRKCG):c.1282-6C>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2633340	NM_002739.5(PRKCG):c.2020A>T (p.Thr674Ser)	PRKCG (T674S)	Single nucleotide variant (missense variant)	PRKCG-related condition	GUncertain significance
Select item 2633191	NM_002739.5(PRKCG):c.237A>T (p.Glu79Asp)	PRKCG (E79D)	Single nucleotide variant (missense variant)	PRKCG-related condition	GUncertain significance
Select item 2623887	NM_002739.5(PRKCG):c.2081T>C (p.Val694Ala)	PRKCG (V694A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585226	NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)	PRKCG (D484V)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
Select item 2580725	NM_002739.5(PRKCG):c.1810G>A (p.Gly604Arg)	PRKCG (G604R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579987	NM_002739.5(PRKCG):c.-192_-178del	PRKCG	Deletion (5 prime UTR variant)	not provided	GLikely benign
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 2579327	NM_002739.5(PRKCG):c.331C>G (p.Pro111Ala)	PRKCG (P111A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2574840	NM_002739.5(PRKCG):c.202G>A (p.Val68Ile)	PRKCG (V68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572741	NM_002739.5(PRKCG):c.1789C>T (p.Arg597Cys)	PRKCG (R597C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2486561	NM_002739.5(PRKCG):c.1034G>T (p.Arg345Leu)	PRKCG (R345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484846	NM_002739.5(PRKCG):c.41G>A (p.Gly14Glu)	PRKCG (G14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2445915	NM_002739.5(PRKCG):c.687-6C>T	PRKCG	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2441777	NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)	PRKCG (T571S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 2430442	NM_002739.5(PRKCG):c.1823T>C (p.Ile608Thr)	PRKCG (I608T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429733	NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala)	PRKCG (G411A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 2328800	NM_002739.5(PRKCG):c.812T>C (p.Val271Ala)	PRKCG (V271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322562	NM_002739.5(PRKCG):c.1654C>G (p.Gln552Glu)	PRKCG (Q552E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290909	NM_002739.5(PRKCG):c.1918G>T (p.Gly640Cys)	PRKCG (G640C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286719	NM_002739.5(PRKCG):c.335C>T (p.Thr112Ile)	PRKCG (T112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275328	NM_002739.5(PRKCG):c.628C>G (p.Gln210Glu)	PRKCG (Q210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251077	NM_002739.5(PRKCG):c.1976G>A (p.Arg659His)	PRKCG (R659H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250554	NM_002739.5(PRKCG):c.1214T>G (p.Leu405Arg)	PRKCG (L405R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136036	NM_002739.5(PRKCG):c.1765-197_1765-196insC	PRKCG	Insertion (intron variant)	not provided	GLikely benign
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 1809877	NM_002739.5(PRKCG):c.976TCCCCT[3] (p.Pro331_Thr332insSerPro)	PRKCG	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1807564	NM_002739.5(PRKCG):c.1290G>A (p.Leu430=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807563	NM_002739.5(PRKCG):c.99C>G (p.Val33=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807562	NM_002739.5(PRKCG):c.881A>T (p.Asp294Val)	PRKCG (D294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807561	NM_002739.5(PRKCG):c.143T>C (p.Phe48Ser)	PRKCG (F48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806840	NM_002739.5(PRKCG):c.713G>A (p.Arg238His)	PRKCG (R238H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806839	NM_002739.5(PRKCG):c.114C>T (p.Phe38=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1708844	NM_002739.5(PRKCG):c.475G>C (p.Gly159Arg)	PRKCG (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705423	NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg)	PRKCG (P524R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 1705060	NM_002739.5(PRKCG):c.518T>G (p.Ile173Ser)	PRKCG (I173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1704769	NM_002739.5(PRKCG):c.1790G>A (p.Arg597His)	PRKCG (R597H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704745	NM_002739.5(PRKCG):c.1905+5G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1704191	NM_002739.5(PRKCG):c.821+109_821+110del	PRKCG	Microsatellite (intron variant)	not provided	GLikely benign
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 1695804	NM_002739.5(PRKCG):c.556A>G (p.Met186Val)	PRKCG (M186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691618	NM_002739.5(PRKCG):c.940-180C>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1690853	NM_002739.5(PRKCG):c.1913G>A (p.Arg638His)	PRKCG (R638H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1527911	NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys)	PRKCG (R634C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	TSEN34, TTYH1 +51 more	Duplication	not provided	GUncertain significance
Select item 1343010	NM_002739.5(PRKCG):c.821+110CA[13]	PRKCG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1342051	NM_002739.5(PRKCG):c.1576-116G>C	PRKCG	Single nucleotide variant (intron variant)	not provided	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 1338905	NM_002739.5(PRKCG):c.155G>T (p.Cys52Phe)	PRKCG (C52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335816	NM_002739.5(PRKCG):c.822-34C>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333856	NM_002739.5(PRKCG):c.686+300C>G	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 1333855	NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)	PRKCG (H74Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1331253	NM_002739.5(PRKCG):c.1765-59G>A	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 1327348	NM_002739.5(PRKCG):c.1092+129C>T	PRKCG	Single nucleotide variant (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 1326127	NM_002739.5(PRKCG):c.821+139_821+140del	PRKCG	Deletion (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 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 1314858	NM_002739.5(PRKCG):c.341_356del (p.Cys114fs)	PRKCG (C114fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 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 1298291	NM_002739.5(PRKCG):c.107A>G (p.His36Arg)	PRKCG (H36R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 1296123	NM_002739.5(PRKCG):c.286-66A>C	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 1295861	NM_002739.5(PRKCG):c.821+110CA[12]	PRKCG	Microsatellite (intron variant)	not provided	GBenign
Select item 1295711	NM_002739.5(PRKCG):c.821+139G>A	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 1295708	NM_002739.5(PRKCG):c.821+130_821+131insGC	PRKCG	Insertion (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 1295030	NM_002739.5(PRKCG):c.821+110CA[15]	PRKCG	Microsatellite (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 1283911	NM_002739.5(PRKCG):c.1926C>G (p.Asn642Lys)	PRKCG (N642K)	Single nucleotide variant (missense variant)	Hereditary ataxia +1 more	GLikely pathogenic
Select item 1270032	NM_002739.5(PRKCG):c.1437-64T>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign

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