"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRKCG"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038206	NM_002739.5(PRKCG):c.170+9A>T	PRKCG	Single nucleotide variant (intron variant)	PRKCG-related disorder	GLikely benign
Select item 2633191	NM_002739.5(PRKCG):c.237A>T (p.Glu79Asp)	PRKCG (E79D)	Single nucleotide variant (missense variant)	PRKCG-related disorder	GUncertain significance
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 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 3042403	NM_002739.5(PRKCG):c.811G>T (p.Val271Leu)	PRKCG (V271L)	Single nucleotide variant (missense variant)	PRKCG-related disorder	GBenign
Select item 3030386	NM_002739.5(PRKCG):c.879T>C (p.Ala293=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related disorder	GLikely benign
Select item 3034643	NM_002739.5(PRKCG):c.1818T>A (p.Pro606=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related disorder	GLikely benign
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 98521	NM_002739.5(PRKCG):c.1899C>T (p.Pro633=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related disorder +1 more	GLikely benign
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 2633340	NM_002739.5(PRKCG):c.2020A>T (p.Thr674Ser)	PRKCG (T674S)	Single nucleotide variant (missense variant)	PRKCG-related disorder	GUncertain significance
Select item 761445	NM_002739.5(PRKCG):c.2043G>C (p.Val681=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related disorder +1 more	GLikely benign