PRKCE[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2479555	NM_005400.3(PRKCE):c.7G>C (p.Val3Leu)	PRKCE (V3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2819482	NM_005400.3(PRKCE):c.373_389del (p.Val125fs)	PRKCE (V125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3309990	NM_005400.3(PRKCE):c.448C>T (p.Arg150Cys)	PRKCE (R150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218771	NM_005400.3(PRKCE):c.449G>A (p.Arg150His)	PRKCE (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795885	NM_005400.3(PRKCE):c.466C>A (p.Arg156=)	PRKCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238878	NM_005400.3(PRKCE):c.736G>A (p.Gly246Ser)	PRKCE (G246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650869	NM_005400.3(PRKCE):c.966+8G>A	PRKCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 771697	NM_005400.3(PRKCE):c.1311G>A (p.Lys437=)	PRKCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720098	NM_005400.3(PRKCE):c.1365A>G (p.Thr455=)	PRKCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3309989	NM_005400.3(PRKCE):c.1442G>A (p.Arg481His)	PRKCE (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218770	NM_005400.3(PRKCE):c.1461A>T (p.Glu487Asp)	PRKCE (E487D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395901	NM_005400.3(PRKCE):c.1519C>A (p.Pro507Thr)	PRKCE (P507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650870	NM_005400.3(PRKCE):c.1529G>A (p.Arg510Gln)	PRKCE (R510Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 931705	NM_005400.3(PRKCE):c.1533C>G (p.Phe511Leu)	PRKCE (F511L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2596079	NM_005400.3(PRKCE):c.1535A>G (p.Tyr512Cys)	PRKCE (Y512C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 453227	NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys)	PRKCE (E599K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2540209	NM_005400.3(PRKCE):c.1893C>A (p.Ser631Arg)	PRKCE (S631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780348	NM_005400.3(PRKCE):c.1960G>A (p.Ala654Thr)	PRKCE (A654T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3309991	NM_005400.3(PRKCE):c.2110C>G (p.Arg704Gly)	PRKCE (R704G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance