BAG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 2588122	NM_004323.6(BAG1):c.961G>A (p.Glu321Lys)	BAG1 (E183K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379422	NM_004323.6(BAG1):c.950C>T (p.Ala317Val)	BAG1 (A202V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785282	NM_004323.6(BAG1):c.910A>G (p.Ser304Gly)	BAG1 (S189G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553815	NM_004323.6(BAG1):c.899A>G (p.Asn300Ser)	BAG1 (N162S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259984	NM_004323.6(BAG1):c.714G>C (p.Lys238Asn)	BAG1 (K100N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132803	NM_004323.6(BAG1):c.682G>A (p.Val228Ile)	BAG1 (V90I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545344	NM_004323.6(BAG1):c.656G>A (p.Gly219Glu)	BAG1 (G148E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385635	NM_004323.6(BAG1):c.641G>A (p.Arg214Gln)	BAG1 (R143Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297653	NM_004323.6(BAG1):c.612G>C (p.Leu204Phe)	BAG1 (L66F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132802	NM_004323.6(BAG1):c.598A>G (p.Met200Val)	BAG1 (M200V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284453	NM_004323.6(BAG1):c.547G>A (p.Val183Ile)	BAG1 (V112I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132800	NM_004323.6(BAG1):c.536A>G (p.Glu179Gly)	BAG1 (E179G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132799	NM_004323.6(BAG1):c.411G>T (p.Glu137Asp)	BAG1, LOC130001651 (E22D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132798	NM_004323.6(BAG1):c.391A>G (p.Ser131Gly)	BAG1, LOC130001651 (S16G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132797	NM_004323.6(BAG1):c.346A>G (p.Met116Val)	BAG1, LOC130001651 (M116V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2257643	NM_004323.6(BAG1):c.328G>A (p.Ala110Thr)	BAG1, LOC130001651 (A39T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2404474	NM_004323.6(BAG1):c.244C>T (p.Arg82Trp)	BAG1, LOC130001651 (R11W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3259995	NM_004323.6(BAG1):c.209C>G (p.Pro70Arg)	BAG1, LOC130001651 (P70R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530726	NM_004323.6(BAG1):c.194C>T (p.Ala65Val)	BAG1, LOC130001651 (A65V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132796	NM_004323.6(BAG1):c.190G>A (p.Ala64Thr)	BAG1, LOC130001651 (A64T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470058	NM_004323.6(BAG1):c.146C>T (p.Ala49Val)	BAG1, LOC130001652 (A49V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2276052	NM_004323.6(BAG1):c.146C>G (p.Ala49Gly)	BAG1, LOC130001652 (A49G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238478	NM_004323.6(BAG1):c.134G>T (p.Gly45Val)	BAG1, LOC130001652 (G45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465033	NM_004323.6(BAG1):c.131C>T (p.Ser44Phe)	BAG1, LOC130001652 (S44F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2393791	NM_004323.6(BAG1):c.73C>T (p.Arg25Trp)	BAG1, LOC130001652 (R25W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3260006	NM_004323.6(BAG1):c.47G>T (p.Arg16Leu)	BAG1, LOC130001652 (R16L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356886	NM_004323.6(BAG1):c.46C>T (p.Arg16Trp)	BAG1, LOC130001652 (R16W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2292146	NM_004323.6(BAG1):c.14G>T (p.Gly5Val)	BAG1, LOC130001652 (G5V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 1808791	GRCh37/hg19 9p21.1-13.3(chr9:33127803-33391202)x3	AQP7, B4GALT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808571	GRCh37/hg19 9p21.1-13.3(chr9:33127803-33398500)x3	AQP7, B4GALT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1024707	NC_000009.11:g.(?_32399559)_(33541225_?)dup	ACO1, ANKRD18B +16 more	Duplication	not provided	GUncertain significance
Select item 980344	GRCh37/hg19 9p21.1-13.3(chr9:33127802-33377822)x3	B4GALT1, BAG1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815259	GRCh37/hg19 9p21.1-13.3(chr9:33126394-33398500)x3	AQP7, SPINK4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689006	GRCh37/hg19 9p21.1-13.3(chr9:33087213-33274455)x3	B4GALT1, BAG1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685515	GRCh37/hg19 9p21.1-13.3(chr9:33177135-33407576)x3	AQP7, BAG1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 394302	GRCh37/hg19 9p21.1-13.3(chr9:33165444-33259483)x3	B4GALT1, BAG1 +1 more	Copy number gain	See cases	GBenign

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