BAG5[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	LOC130056511, LOC130056512 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	LOC126862061, LOC126862062 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	PPP2R5C, RCOR1 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	ADSS1, AHNAK2 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LOC130056610, LOC130056611 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	IGHV3-38, IGHV3-43 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	C14orf180, CDC42BPB +367 more	Copy number loss	See cases	GPathogenic
Select item 147741	GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1	BAG5, CDC42BPB +50 more	Copy number loss	See cases	GUncertain significance
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	BTBD6, C14orf180 +304 more	Copy number gain	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 2368335	NM_001015048.3(BAG5):c.1292C>T (p.Ala431Val)	BAG5 (A431V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535316	NM_001015048.3(BAG5):c.1223C>T (p.Ala408Val)	BAG5 (A408V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251966	NM_001015048.3(BAG5):c.1168C>G (p.Arg390Gly)	BAG5 (R390G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341488	NM_001015048.3(BAG5):c.1168C>T (p.Arg390Ter)	BAG5	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, 2F	GPathogenic
Select item 2260430	NM_001015048.3(BAG5):c.1114G>A (p.Val372Ile)	BAG5 (V372I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165501	NM_001015048.3(BAG5):c.1063del (p.Arg355fs)	BAG5 (R355fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2388298	NM_001015048.3(BAG5):c.812G>A (p.Arg271Lys)	BAG5 (R271K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225261	NM_001015048.3(BAG5):c.746T>C (p.Ile249Thr)	BAG5 (I249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221926	NM_001015048.3(BAG5):c.607C>T (p.Leu203Phe)	BAG5 (L203F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341487	NM_001015048.3(BAG5):c.589C>T (p.Arg197Ter)	BAG5	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, 2F	GPathogenic
Select item 2230969	NM_001015048.3(BAG5):c.389T>C (p.Ile130Thr)	BAG5 (I130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537294	NM_001015048.3(BAG5):c.337T>C (p.Tyr113His)	BAG5 (Y113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644590	NM_001015048.3(BAG5):c.333A>G (p.Pro111=)	BAG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499992	NM_001015048.3(BAG5):c.321_322del (p.Lys108fs)	BAG5 (K108fs)	Microsatellite (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2671659	NM_001015048.3(BAG5):c.277G>C (p.Glu93Gln)	BAG5 (E93Q)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2F	GUncertain significance
Select item 2603174	NM_001015048.3(BAG5):c.274A>C (p.Ile92Leu)	BAG5 (I92L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2332744	NM_001015048.3(BAG5):c.223A>G (p.Thr75Ala)	BAG5 (T75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555563	NM_001015048.3(BAG5):c.83T>C (p.Ile28Thr)	BAG5 (I28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239754	NM_001015048.3(BAG5):c.82A>G (p.Ile28Val)	BAG5 (I28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1341489	NM_001015048.3(BAG5):c.18dup (p.His7fs)	BAG5 (H7fs)	Duplication (frameshift variant)	Cardiomyopathy, dilated, 2F	GPathogenic
Select item 2514705	NM_001015048.3(BAG5):c.-5A>G	BAG5	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2517058	NM_001015048.3(BAG5):c.-12C>T	BAG5	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2291157	NM_001015048.3(BAG5):c.-29+693C>T	BAG5, LOC130056586	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318620	NM_001015048.3(BAG5):c.-29+670C>T	BAG5	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ATP5MJ, BAG5 +37 more	Duplication	not provided	GUncertain significance
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	SIVA1, TDRD9 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	COA8, JAG2 +47 more	Duplication	not provided	GUncertain significance
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	IGHV3-23, IGHM +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	CEP170B, BAG5 +56 more	Copy number loss	not provided	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	ADSS1, AHNAK2 +67 more	Copy number loss	not provided	GPathogenic
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 more	Copy number loss	not provided	GPathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	ADSS1, AHNAK2 +98 more	Copy number gain	not provided	GPathogenic
Select item 625708	GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	INF2, JAG2 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	AMN, TEX22 +53 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 443301	GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	ADSS1, AHNAK2 +49 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 442421	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	PLD4, PPP1R13B +56 more	Copy number loss	See cases	GPathogenic
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 395243	GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1	AMN, ATP5MJ +15 more	Copy number loss	See cases	GPathogenic
Select item 393813	GRCh37/hg19 14q32.32-32.33(chr14:103566945-104053697)x1	BAG5, CKB +6 more	Copy number loss	See cases	GUncertain significance

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Items: 83