ClinVar for MedGen (Select 343106) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	not provided +1 more	GLikely pathogenic
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 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 1028043	NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr)	PRKCG (A404T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 1027510	NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)	PRKCG (R140Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1027509	NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)	PRKCG (Q127P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1027481	NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter)	PRKCG (Y436*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 14	GPathogenic
Select item 1027480	NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)	PRKCG (E156K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1027479	NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)	PRKCG (A461T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1027478	NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)	PRKCG (F643C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1027477	NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)	PRKCG (L120F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 978272	NM_002739.5(PRKCG):c.347A>G (p.His116Arg)	PRKCG (H116R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GUncertain significance
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 894643	NM_002739.5(PRKCG):c.*184C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 894642	NM_002739.5(PRKCG):c.*84C>A	PRKCG	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 14	GLikely benign
Select item 894618	NM_002739.5(PRKCG):c.498G>T (p.Arg166=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +1 more	GBenign/Likely benign
Select item 894617	NM_002739.5(PRKCG):c.234C>T (p.His78=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 894247	NM_002739.5(PRKCG):c.1906-10T>C	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 894246	NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu)	PRKCG (P635L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GConflicting classifications of pathogenicity
Select item 894245	NM_002739.5(PRKCG):c.1764+8C>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 893438	NM_002739.5(PRKCG):c.*622C>G	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 893408	NM_002739.5(PRKCG):c.1665C>T (p.Phe555=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 893407	NM_002739.5(PRKCG):c.1282-14G>A	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 893406	NM_002739.5(PRKCG):c.940-3C>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GLikely benign
Select item 893405	NM_002739.5(PRKCG):c.822-14C>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GLikely benign
Select item 892635	NM_002739.5(PRKCG):c.*426C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 892634	NM_002739.5(PRKCG):c.*415G>C	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 892595	NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp)	PRKCG (E237D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely benign
Select item 892594	NM_002739.5(PRKCG):c.637C>A (p.Arg213=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 892593	NM_002739.5(PRKCG):c.520C>G (p.His174Asp)	PRKCG (H174D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 871359	NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)	PRKCG (A461V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804156	NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)	PRKCG (G123R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GConflicting classifications of pathogenicity
Select item 804155	NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	PRKCG (C77Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GConflicting classifications of pathogenicity
Select item 804150	NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)	PRKCG (Q127K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 617542	NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)	PRKCG (P628L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 518306	NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)	PRKCG (V583M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GConflicting classifications of pathogenicity
Select item 518305	NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)	PRKCG (R239W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 448126	NM_002739.5(PRKCG):c.1281+9G>C	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14 +1 more	GBenign/Likely benign
Select item 436421	NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)	PRKCG (C66Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
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 330084	NM_002739.5(PRKCG):c.*670T>C	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GBenign
Select item 330083	NM_002739.5(PRKCG):c.*596C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GBenign
Select item 330082	NM_002739.5(PRKCG):c.*550C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330081	NM_002739.5(PRKCG):c.*481T>C	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330080	NM_002739.5(PRKCG):c.*428C>G	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GBenign
Select item 330079	NM_002739.5(PRKCG):c.*427T>C	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330078	NM_002739.5(PRKCG):c.*360G>C	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330077	NM_002739.5(PRKCG):c.*199C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 330075	NM_002739.5(PRKCG):c.*48G>A	PRKCG	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 14	GLikely benign
Select item 330074	NM_002739.5(PRKCG):c.*39C>T	PRKCG	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330073	NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile)	PRKCG (V696I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GUncertain significance
Select item 330072	NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly)	PRKCG (S687G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 330071	NM_002739.5(PRKCG):c.1962G>C (p.Leu654=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330070	NM_002739.5(PRKCG):c.1960C>T (p.Leu654=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330069	NM_002739.5(PRKCG):c.1941C>T (p.Phe647=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 330068	NM_002739.5(PRKCG):c.1836C>T (p.Gly612=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 330067	NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)	PRKCG (S577L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 330065	NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +2 more	GBenign
Select item 330064	NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys)	PRKCG (R238C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	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 330062	NM_002739.5(PRKCG):c.642G>A (p.Thr214=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +2 more	GBenign/Likely benign
Select item 330061	NM_002739.5(PRKCG):c.529+11G>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330060	NM_002739.5(PRKCG):c.441C>T (p.Pro147=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +1 more	GLikely benign
Select item 330059	NM_002739.5(PRKCG):c.286-12C>A	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GBenign
Select item 330058	NM_002739.5(PRKCG):c.285C>T (p.Asp95=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +2 more	GBenign/Likely benign
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 330055	NM_002739.5(PRKCG):c.-233C>T	PRKCG	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 211956	NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)	PRKCG (C52S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 194378	NM_002739.5(PRKCG):c.1497T>C (p.Phe499=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +2 more	GBenign
Select item 130037	NM_002739.5(PRKCG):c.72C>T (p.Ala24=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +2 more	GBenign
Select item 130036	NM_002739.5(PRKCG):c.567T>C (p.Asn189=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14 +1 more	GBenign
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 42169	NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)	PRKCG (V138E)	Single nucleotide variant (missense variant)	not provided +1 more	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 42165	NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)	PRKCG (G123E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 42163	NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)	PRKCG (S119F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 42145	NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)	PRKCG (V692G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 29858	NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)	PRKCG (D480Y)	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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