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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 57

	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 1184519	NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)	PRKCG (Y108C)	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 918174	NM_002739.5(PRKCG):c.302A>G (p.His101Arg)	PRKCG (H101R)	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 42132	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	PRKCG (R41P)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 57