C1854369[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 42132	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	PRKCG (R41P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 918172	NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)	PRKCG (R76*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 14	Gnot provided
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 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 42157	NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)	PRKCG	Deletion (inframe_deletion)	Spinocerebellar ataxia type 14	GPathogenic
Select item 13244	NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	PRKCG (H101Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 918174	NM_002739.5(PRKCG):c.302A>G (p.His101Arg)	PRKCG (H101R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 13251	NM_002739.5(PRKCG):c.303C>G (p.His101Gln)	PRKCG (H101Q)	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 13247	NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)	PRKCG (G118D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13245	NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)	PRKCG (S119P)	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 42164	NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)	PRKCG (G123R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
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 13248	NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)	PRKCG (Q127R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13246	NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)	PRKCG (G128D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
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 42167	NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)	PRKCG (C131Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42169	NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)	PRKCG (V138E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GPathogenic
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 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 42129	NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)	PRKCG (G360S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 13250	NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)	PRKCG (S361G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13249	NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)	PRKCG (F643L)	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 13252	NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)	PRKCG	Deletion (stop lost +2 more)	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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Items: 31