Related gene-specific medical variations for Gene (Select 5582) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1298291	NM_002739.5(PRKCG):c.107A>G (p.His36Arg)	PRKCG (H36R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
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 1256105	NM_002739.5(PRKCG):c.866C>A (p.Pro289Gln)	PRKCG (P289Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256103	NM_002739.5(PRKCG):c.1349G>A (p.Gly450Asp)	PRKCG (G450D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184521	NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)	PRKCG (S132P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1184520	NM_002739.5(PRKCG):c.381G>T (p.Gln127His)	PRKCG (Q127H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 994946	NM_002739.5(PRKCG):c.974C>T (p.Pro325Leu)	PRKCG (P325L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994945	NM_002739.5(PRKCG):c.522C>T (p.His174=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994944	NM_002739.5(PRKCG):c.401_402delinsTT (p.Cys134Phe)	PRKCG (C134F)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 994943	NM_002739.5(PRKCG):c.362_379dup (p.Leu121_His126dup)	PRKCG	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 994941	NM_002739.5(PRKCG):c.1553C>T (p.Thr518Ile)	PRKCG (T518I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994939	NM_002739.5(PRKCG):c.1195G>C (p.Glu399Gln)	PRKCG (E399Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987482	NM_002739.5(PRKCG):c.1082G>A (p.Ser361Asn)	PRKCG (S361N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 918175	NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)	PRKCG (D95E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 918173	NM_002739.5(PRKCG):c.767T>C (p.Met256Thr)	PRKCG (M256T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 918172	NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)	PRKCG (R76*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 14	Gnot provided
Select item 808644	NM_002739.5(PRKCG):c.1764+1G>A	PRKCG	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 805319	NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu)	PRKCG (G23E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805318	NM_002739.5(PRKCG):c.476G>A (p.Gly159Glu)	PRKCG (G159E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448129	NM_002739.5(PRKCG):c.397+10C>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374716	NM_002739.5(PRKCG):c.173G>A (p.Gly58Asp)	PRKCG (G58D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 98522	NM_002739.5(PRKCG):c.1948G>T (p.Ala650Ser)	PRKCG (A650S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98520	NM_002739.5(PRKCG):c.1862G>A (p.Arg621Gln)	PRKCG (R621Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98519	NM_002739.5(PRKCG):c.1746C>T (p.Ala582=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98518	NM_002739.5(PRKCG):c.1608C>T (p.Val536=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98517	NM_002739.5(PRKCG):c.1029A>G (p.Pro343=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98515	NM_002739.5(PRKCG):c.862G>A (p.Val288Met)	PRKCG (V288M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98514	NM_002739.5(PRKCG):c.861T>C (p.Asn287=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98513	NM_002739.5(PRKCG):c.807G>A (p.Ala269=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98511	NM_002739.5(PRKCG):c.683T>C (p.Val228Ala)	PRKCG (V228A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 42174	NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)	PRKCG (R26G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 42171	NM_002739.5(PRKCG):c.417C>A (p.His139Gln)	PRKCG (H139Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42170	NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)	PRKCG (C150F)	Indel (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42167	NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)	PRKCG (C131Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42166	NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)	PRKCG (C131R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 42164	NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)	PRKCG (G123R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42161	NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)	PRKCG (C114Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42157	NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)	PRKCG	Deletion (inframe_deletion)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42148	NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)	PRKCG (C77S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42129	NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)	PRKCG (G360S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 29857	NM_002739.5(PRKCG):c.530_919del	PRKCG	Deletion	Spinocerebellar ataxia type 14	GPathogenic

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Links from Gene

Items: 54