ClinVar for Gene (Select 1833) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3276151	NM_004950.5(EPYC):c.880A>G (p.Ile294Val)	EPYC (I294V)	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 3276148	NM_004950.5(EPYC):c.581G>A (p.Arg194Gln)	EPYC (R194Q)	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 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 3090013	NM_004950.5(EPYC):c.382G>A (p.Val128Met)	EPYC (V128M)	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 3090011	NM_004950.5(EPYC):c.31C>T (p.Leu11Phe)	EPYC (L11F)	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 2619981	NM_004950.5(EPYC):c.336T>A (p.Asn112Lys)	EPYC (N112K)	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 2590259	NM_004950.5(EPYC):c.822C>G (p.His274Gln)	EPYC (H274Q)	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 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 2458951	NM_004950.5(EPYC):c.595C>T (p.Arg199Cys)	EPYC (R199C)	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 2372858	NM_004950.5(EPYC):c.425C>T (p.Pro142Leu)	EPYC (P142L)	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 2361154	NM_004950.5(EPYC):c.656G>A (p.Ser219Asn)	EPYC (S219N)	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 2355707	NM_004950.5(EPYC):c.4A>C (p.Lys2Gln)	EPYC (K2Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2332704	NM_004950.5(EPYC):c.386A>G (p.Tyr129Cys)	EPYC (Y129C)	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 2316430	NM_004950.5(EPYC):c.749A>C (p.Asp250Ala)	EPYC (D250A)	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 2311846	NM_004950.5(EPYC):c.362G>A (p.Cys121Tyr)	EPYC (C121Y)	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 2268686	NM_004950.5(EPYC):c.125A>G (p.Asn42Ser)	EPYC (N42S)	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 2236410	NM_004950.5(EPYC):c.240G>C (p.Gln80His)	EPYC (Q80H)	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 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 980450	GRCh37/hg19 12q21.33(chr12:90629021-91543515)x3	CCER1, LUM +3 more	Copy number gain	not provided	GUncertain significance
Select item 768570	NM_004950.5(EPYC):c.166-4del	EPYC	Deletion (intron variant)	not provided	GBenign
Select item 722071	NM_004950.5(EPYC):c.702+1G>C	EPYC	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 718123	NM_004950.5(EPYC):c.562C>T (p.Arg188Ter)	EPYC (R188*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	ATP2B1, C12orf50 +13 more	Copy number loss	not provided	GUncertain significance
Select item 563904	GRCh37/hg19 12q21.33(chr12:91345437-91440013)x1	EPYC, CCER1	Copy number loss	not provided	GUncertain significance
Select item 563899	GRCh37/hg19 12q21.33(chr12:91293407-91374740)x1	EPYC, CCER1	Copy number loss	not provided	GLikely benign
Select item 442370	GRCh37/hg19 12q21.33(chr12:90881837-91582957)x1	CCER1, DCN +3 more	Copy number loss	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253789	GRCh37/hg19 12q21.33(chr12:90910083-91560392)x3	EPYC, LUM +3 more	Copy number gain	See cases	GUncertain significance
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 58230	GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3	CCER1, DCN +11 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 54