"Ambry Genetics"[submitter] AND "PRKCG"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2484846	NM_002739.5(PRKCG):c.41G>A (p.Gly14Glu)	PRKCG (G14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218773	NM_002739.5(PRKCG):c.47G>A (p.Arg16Gln)	PRKCG (R16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932441	NM_002739.5(PRKCG):c.283G>A (p.Asp95Asn)	PRKCG (D95N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2286719	NM_002739.5(PRKCG):c.335C>T (p.Thr112Ile)	PRKCG (T112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309992	NM_002739.5(PRKCG):c.506C>G (p.Thr169Arg)	PRKCG (T169R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275328	NM_002739.5(PRKCG):c.628C>G (p.Gln210Glu)	PRKCG (Q210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328800	NM_002739.5(PRKCG):c.812T>C (p.Val271Ala)	PRKCG (V271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218774	NM_002739.5(PRKCG):c.994A>C (p.Thr332Pro)	PRKCG (T332P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486561	NM_002739.5(PRKCG):c.1034G>T (p.Arg345Leu)	PRKCG (R345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218772	NM_002739.5(PRKCG):c.1063A>G (p.Met355Val)	PRKCG (M355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315051	NM_002739.5(PRKCG):c.1201C>T (p.Arg401Cys)	PRKCG (R401C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2250554	NM_002739.5(PRKCG):c.1214T>G (p.Leu405Arg)	PRKCG (L405R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994940	NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys)	PRKCG (T510K)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 2322562	NM_002739.5(PRKCG):c.1654C>G (p.Gln552Glu)	PRKCG (Q552E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520558	NM_002739.5(PRKCG):c.1706A>G (p.Glu569Gly)	PRKCG (E569G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1223865	NM_002739.5(PRKCG):c.1728G>C (p.Lys576Asn)	PRKCG (K576N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 994942	NM_002739.5(PRKCG):c.1738C>T (p.Arg580Trp)	PRKCG (R580W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521274	NM_002739.5(PRKCG):c.1843C>T (p.Arg615Cys)	PRKCG (R615C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759927	NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln)	PRKCG (R624Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2290909	NM_002739.5(PRKCG):c.1918G>T (p.Gly640Cys)	PRKCG (G640C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251077	NM_002739.5(PRKCG):c.1976G>A (p.Arg659His)	PRKCG (R659H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623887	NM_002739.5(PRKCG):c.2081T>C (p.Val694Ala)	PRKCG (V694A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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Items: 24