EPYC[gene] and "single gene"[properties] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547645	NM_004950.5(EPYC):c.960C>A (p.Ser320Arg)	EPYC (S320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464100	NM_004950.5(EPYC):c.943C>T (p.Arg315Cys)	EPYC (R315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327127	NM_004950.5(EPYC):c.913A>G (p.Lys305Glu)	EPYC (K305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312529	NM_004950.5(EPYC):c.902T>C (p.Ile301Thr)	EPYC (I301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276151	NM_004950.5(EPYC):c.880A>G (p.Ile294Val)	EPYC (I294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389925	NM_004950.5(EPYC):c.863G>A (p.Arg288His)	EPYC (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355878	NM_004950.5(EPYC):c.852G>C (p.Leu284Phe)	EPYC (L284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590259	NM_004950.5(EPYC):c.822C>G (p.His274Gln)	EPYC (H274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316430	NM_004950.5(EPYC):c.749A>C (p.Asp250Ala)	EPYC (D250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301451	NM_004950.5(EPYC):c.706A>G (p.Met236Val)	EPYC (M236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270449	NM_004950.5(EPYC):c.706A>T (p.Met236Leu)	EPYC (M236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722071	NM_004950.5(EPYC):c.702+1G>C	EPYC	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2361154	NM_004950.5(EPYC):c.656G>A (p.Ser219Asn)	EPYC (S219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276150	NM_004950.5(EPYC):c.652A>G (p.Ile218Val)	EPYC (I218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090017	NM_004950.5(EPYC):c.596G>A (p.Arg199His)	EPYC (R199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458951	NM_004950.5(EPYC):c.595C>T (p.Arg199Cys)	EPYC (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276148	NM_004950.5(EPYC):c.581G>A (p.Arg194Gln)	EPYC (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718123	NM_004950.5(EPYC):c.562C>T (p.Arg188Ter)	EPYC (R188*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2372858	NM_004950.5(EPYC):c.425C>T (p.Pro142Leu)	EPYC (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229347	NM_004950.5(EPYC):c.410C>T (p.Ala137Val)	EPYC (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332704	NM_004950.5(EPYC):c.386A>G (p.Tyr129Cys)	EPYC (Y129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090013	NM_004950.5(EPYC):c.382G>A (p.Val128Met)	EPYC (V128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311846	NM_004950.5(EPYC):c.362G>A (p.Cys121Tyr)	EPYC (C121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090012	NM_004950.5(EPYC):c.342C>G (p.Asp114Glu)	EPYC (D114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619981	NM_004950.5(EPYC):c.336T>A (p.Asn112Lys)	EPYC (N112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276152	NM_004950.5(EPYC):c.268C>G (p.Pro90Ala)	EPYC (P90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608952	NM_004950.5(EPYC):c.254A>C (p.Glu85Ala)	EPYC (E85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236410	NM_004950.5(EPYC):c.240G>C (p.Gln80His)	EPYC (Q80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768570	NM_004950.5(EPYC):c.166-4del	EPYC	Deletion (intron variant)	not provided	GBenign
Select item 2354414	NM_004950.5(EPYC):c.152T>C (p.Val51Ala)	EPYC (V51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363128	NM_004950.5(EPYC):c.149C>A (p.Pro50His)	EPYC (P50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268686	NM_004950.5(EPYC):c.125A>G (p.Asn42Ser)	EPYC (N42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090010	NM_004950.5(EPYC):c.103G>C (p.Ala35Pro)	EPYC (A35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090016	NM_004950.5(EPYC):c.47C>A (p.Ala16Asp)	EPYC (A16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090015	NM_004950.5(EPYC):c.46G>A (p.Ala16Thr)	EPYC (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248003	NM_004950.5(EPYC):c.35T>A (p.Val12Asp)	EPYC (V12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090011	NM_004950.5(EPYC):c.31C>T (p.Leu11Phe)	EPYC (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550480	NM_004950.5(EPYC):c.23T>C (p.Val8Ala)	EPYC (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355707	NM_004950.5(EPYC):c.4A>C (p.Lys2Gln)	EPYC (K2Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39