"Illumina Laboratory Services, Illumina"[submitter] AND "PRKCG"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 330056	NM_002739.5(PRKCG):c.-169G>C	PRKCG	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 130037	NM_002739.5(PRKCG):c.72C>T (p.Ala24=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 894617	NM_002739.5(PRKCG):c.234C>T (p.His78=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330058	NM_002739.5(PRKCG):c.285C>T (p.Asp95=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely 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 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 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 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 330061	NM_002739.5(PRKCG):c.529+11G>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 130036	NM_002739.5(PRKCG):c.567T>C (p.Asn189=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 330062	NM_002739.5(PRKCG):c.642G>A (p.Thr214=)	PRKCG	Single nucleotide variant (synonymous variant)	PRKCG-related condition +2 more	GBenign/Likely benign
Select item 330063	NM_002739.5(PRKCG):c.686+14G>T	PRKCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 893405	NM_002739.5(PRKCG):c.822-14C>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GLikely benign
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 448126	NM_002739.5(PRKCG):c.1281+9G>C	PRKCG	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 330065	NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 893408	NM_002739.5(PRKCG):c.1665C>T (p.Phe555=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
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 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 894245	NM_002739.5(PRKCG):c.1764+8C>T	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 330068	NM_002739.5(PRKCG):c.1836C>T (p.Gly612=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 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 894247	NM_002739.5(PRKCG):c.1906-10T>C	PRKCG	Single nucleotide variant (intron 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 330070	NM_002739.5(PRKCG):c.1960C>T (p.Leu654=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
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 330072	NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly)	PRKCG (S687G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 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 330076	NM_002739.5(PRKCG):c.*59dup	PRKCG	Duplication (3 prime UTR variant +1 more)	Autosomal dominant cerebellar ataxia	GLikely benign
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 894643	NM_002739.5(PRKCG):c.*184C>T	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 330078	NM_002739.5(PRKCG):c.*360G>C	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 892635	NM_002739.5(PRKCG):c.*426C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
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 330080	NM_002739.5(PRKCG):c.*428C>G	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GBenign
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 330082	NM_002739.5(PRKCG):c.*550C>T	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
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 893438	NM_002739.5(PRKCG):c.*622C>G	PRKCG	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 14	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

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Items: 52