BAG3[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6205221.	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter) GRCh37: Chr10:121411207 GRCh38: Chr10:119651695	BAG3	S7*	not provided	Likely pathogenic (Jan 2, 2019)	criteria provided, single submitter
Select item 17974402.	NM_004281.4(BAG3):c.29_35del (p.Met10fs) GRCh37: Chr10:121411216-121411222 GRCh38: Chr10:119651704-119651710	BAG3	M10fs	Cardiovascular phenotype	Pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 14522083.	NM_004281.4(BAG3):c.38_39dup (p.Ser14fs) GRCh37: Chr10:121411223-121411224 GRCh38: Chr10:119651711-119651712	BAG3	S14fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 9661964.	NM_004281.4(BAG3):c.72dup (p.Gly25fs) GRCh37: Chr10:121411253-121411254 GRCh38: Chr10:119651741-119651742	BAG3	G25fs	Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided	Pathogenic/Likely pathogenic (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1627695.	NM_004281.4(BAG3):c.72del (p.Gly25fs) GRCh37: Chr10:121411254 GRCh38: Chr10:119651742	BAG3	G25fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Primary dilated cardiomyopathy	Pathogenic/Likely pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5052296.	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) GRCh37: Chr10:121411264 GRCh38: Chr10:119651752	BAG3	W26*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype, not provided, Primary dilated cardiomyopathy	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20078307.	NM_004281.4(BAG3):c.96_97del (p.Gln33fs) GRCh37: Chr10:121411282-121411283 GRCh38: Chr10:119651770-119651771	BAG3	Q33fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 1800098.	NM_004281.4(BAG3):c.100_107del (p.Thr34fs) GRCh37: Chr10:121411286-121411293 GRCh38: Chr10:119651774-119651781	BAG3	T34fs	not provided, Primary dilated cardiomyopathy	Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9492249.	NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) GRCh37: Chr10:121411295 GRCh38: Chr10:119651783	BAG3	W36*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (May 27, 2019)	criteria provided, single submitter
Select item 56633810.	NM_004281.4(BAG3):c.146G>A (p.Trp49Ter) GRCh37: Chr10:121411333 GRCh38: Chr10:119651821	BAG3	W49*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Mar 23, 2019)	criteria provided, single submitter
Select item 203588611.	NM_004281.4(BAG3):c.160del (p.Val54fs) GRCh37: Chr10:121411347 GRCh38: Chr10:119651835	BAG3	V54fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 139666612.	NM_004281.4(BAG3):c.165del (p.Ser56fs) GRCh37: Chr10:121411350 GRCh38: Chr10:119651838	BAG3	S56fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (May 5, 2021)	criteria provided, single submitter
Select item 41872013.	NM_004281.4(BAG3):c.206dup (p.Ser70fs) GRCh37: Chr10:121429385-121429386 GRCh38: Chr10:119669873-119669874	BAG3	S70fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, not provided	Pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56060914.	NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) GRCh37: Chr10:121429432-121429433 GRCh38: Chr10:119669920-119669921	BAG3	P87fs	Primary dilated cardiomyopathy	Pathogenic (Mar 31, 2017)	no assertion criteria provided
Select item 50433315.	NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) GRCh37: Chr10:121429440 GRCh38: Chr10:119669928	BAG3	Y86*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided	Pathogenic/Likely pathogenic (Feb 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 51893316.	NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) GRCh37: Chr10:121429444 GRCh38: Chr10:119669932	BAG3	Q88*	Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37272317.	NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) GRCh37: Chr10:121429450 GRCh38: Chr10:119669938	BAG3	R90*	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56631818.	NM_004281.4(BAG3):c.277dup (p.Tyr93fs) GRCh37: Chr10:121429458-121429459 GRCh38: Chr10:119669946-119669947	BAG3	Y93fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Apr 22, 2018)	criteria provided, single submitter
Select item 95766219.	NM_004281.4(BAG3):c.329dup (p.His112fs) GRCh37: Chr10:121429508-121429509 GRCh38: Chr10:119669996-119669997	BAG3	H112fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Nov 5, 2019)	criteria provided, single submitter
Select item 132408720.	NM_004281.4(BAG3):c.331_332del (p.Phe111fs) GRCh37: Chr10:121429512-121429513 GRCh38: Chr10:119670000-119670001	BAG3	F111fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Mar 23, 2021)	criteria provided, single submitter
Select item 63651521.	NM_004281.4(BAG3):c.339del (p.Tyr114fs) GRCh37: Chr10:121429521 GRCh38: Chr10:119670009	BAG3	Y114fs	not provided	Likely pathogenic (Oct 23, 2017)	criteria provided, single submitter
Select item 107531222.	NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs) GRCh37: Chr10:121429524-121429525 GRCh38: Chr10:119670012-119670013	BAG3	G118fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jul 9, 2020)	criteria provided, single submitter
Select item 42232623.	NM_004281.4(BAG3):c.350dup (p.Gly118fs) GRCh37: Chr10:121429530-121429531 GRCh38: Chr10:119670018-119670019	BAG3	G118fs	not provided	Likely pathogenic (Jul 31, 2018)	criteria provided, single submitter
Select item 199786024.	NM_004281.4(BAG3):c.358C>T (p.Gln120Ter) GRCh37: Chr10:121429540 GRCh38: Chr10:119670028	BAG3	Q120*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 132409425.	NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) GRCh37: Chr10:121429543 GRCh38: Chr10:119670031	BAG3	R121*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 3039726.	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) GRCh37: Chr10:121429549 GRCh38: Chr10:119670037	BAG3	R123*	Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided, Dilated cardiomyopathy 1HH, Primary dilated cardiomyopathy	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173641427.	NM_004281.4(BAG3):c.394C>T (p.Gln132Ter) GRCh37: Chr10:121429576 GRCh38: Chr10:119670064	BAG3	Q132*	Cardiovascular phenotype	Pathogenic (Oct 22, 2021)	criteria provided, single submitter
Select item 84268628.	NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) GRCh37: Chr10:121429585 GRCh38: Chr10:119670073	BAG3	Q135*	Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206926829.	NM_004281.4(BAG3):c.434_437del (p.Thr145fs) GRCh37: Chr10:121429614-121429617 GRCh38: Chr10:119670102-119670105	BAG3	T145fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 187914630.	NM_004281.4(BAG3):c.447dup (p.Gln150fs) GRCh37: Chr10:121429626-121429627 GRCh38: Chr10:119670114-119670115	BAG3	Q150fs	not provided	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 202038031.	NM_004281.4(BAG3):c.448_449del (p.Gln150fs) GRCh37: Chr10:121429629-121429630 GRCh38: Chr10:119670117-119670118	BAG3	Q150fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 132407232.	NM_004281.4(BAG3):c.457C>T (p.Gln153Ter) GRCh37: Chr10:121429639 GRCh38: Chr10:119670127	BAG3	Q153*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Nov 15, 2020)	criteria provided, single submitter
Select item 26410233.	NM_004281.4(BAG3):c.481C>T (p.Gln161Ter) GRCh37: Chr10:121429663 GRCh38: Chr10:119670151	BAG3	Q161*	Cardiovascular phenotype	Pathogenic (Jun 19, 2015)	criteria provided, single submitter
Select item 145362534.	NM_004281.4(BAG3):c.488del (p.Pro163fs) GRCh37: Chr10:121429666 GRCh38: Chr10:119670154	BAG3	P163fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Feb 7, 2021)	criteria provided, single submitter
Select item 146666235.	NM_004281.4(BAG3):c.508-14_514del GRCh37: Chr10:121431750-121431770 GRCh38: Chr10:119672238-119672258	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 203399136.	NM_004281.4(BAG3):c.508-1G>A GRCh37: Chr10:121431766 GRCh38: Chr10:119672254	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 64859537.	NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) GRCh37: Chr10:121431773 GRCh38: Chr10:119672261	BAG3	Q172*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Dec 11, 2018)	criteria provided, single submitter
Select item 107557238.	NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer) GRCh37: Chr10:121431787-121431788 GRCh38: Chr10:119672275-119672276	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (May 15, 2020)	criteria provided, single submitter
Select item 57084439.	NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) GRCh37: Chr10:121431796 GRCh38: Chr10:119672284	BAG3	C179*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Aug 20, 2018)	criteria provided, single submitter
Select item 97830940.	NM_004281.4(BAG3):c.568_577del (p.Ser190fs) GRCh37: Chr10:121431827-121431836 GRCh38: Chr10:119672315-119672324	BAG3	S190fs	Dilated cardiomyopathy 1A	Likely pathogenic (Apr 18, 2020)	criteria provided, single submitter
Select item 42231141.	NM_004281.4(BAG3):c.580del (p.Ser194fs) GRCh37: Chr10:121431839 GRCh38: Chr10:119672327	BAG3	S194fs	not provided	Likely pathogenic (Mar 31, 2017)	criteria provided, single submitter
Select item 136274942.	NM_004281.4(BAG3):c.598C>T (p.Gln200Ter) GRCh37: Chr10:121431857 GRCh38: Chr10:119672345	BAG3	Q200*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 41022943.	NM_004281.4(BAG3):c.607dup (p.Arg203fs) GRCh37: Chr10:121431865-121431866 GRCh38: Chr10:119672353-119672354	BAG3	R203fs	Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167506444.	NM_004281.4(BAG3):c.612del (p.Tyr205fs) GRCh37: Chr10:121431867 GRCh38: Chr10:119672355	BAG3	Y205fs	Myocarditis, Primary dilated cardiomyopathy	Likely pathogenic	criteria provided, single submitter
Select item 65729945.	NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) GRCh37: Chr10:121431884 GRCh38: Chr10:119672372	BAG3	P209S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided, Abnormality of the musculature	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15653046.	NM_004281.4(BAG3):c.626C>A (p.Pro209Gln) GRCh37: Chr10:121431885 GRCh38: Chr10:119672373	BAG3	P209Q	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 598147.	NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) GRCh37: Chr10:121431885 GRCh38: Chr10:119672373	BAG3	P209L	Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided, Myofibrillar myopathy 6, Peripheral neuropathy	Pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139863348.	NM_004281.4(BAG3):c.640C>T (p.Gln214Ter) GRCh37: Chr10:121431899 GRCh38: Chr10:119672387	BAG3	Q214*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 3039849.	NM_004281.4(BAG3):c.652del (p.Arg218fs) GRCh37: Chr10:121431909 GRCh38: Chr10:119672397	BAG3	R218fs	Dilated cardiomyopathy 1HH	Pathogenic (Mar 11, 2011)	no assertion criteria provided
Select item 107661050.	NM_004281.4(BAG3):c.654del (p.Pro219fs) GRCh37: Chr10:121431912 GRCh38: Chr10:119672400	BAG3	P219fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 43144951.	NM_004281.4(BAG3):c.670dup (p.Ser224fs) GRCh37: Chr10:121431928-121431929 GRCh38: Chr10:119672416-119672417	BAG3	S224fs	Dilated cardiomyopathy 1HH	Likely pathogenic (May 23, 2017)	no assertion criteria provided
Select item 23498252.	NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) GRCh37: Chr10:121431958 GRCh38: Chr10:119672446	BAG3	Y233*	Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, not provided	Pathogenic (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118814753.	NM_004281.4(BAG3):c.709C>T (p.Gln237Ter) GRCh37: Chr10:121431968 GRCh38: Chr10:119672456	BAG3	Q237*	not provided	Pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 98711754.	NM_004281.4(BAG3):c.715G>T (p.Glu239Ter) GRCh37: Chr10:121431974 GRCh38: Chr10:119672462	BAG3	E239*	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 208845855.	NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter) GRCh37: Chr10:121431979 GRCh38: Chr10:119672467	BAG3	Y240*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 210604356.	NM_004281.4(BAG3):c.727dup (p.His243fs) GRCh37: Chr10:121431983-121431984 GRCh38: Chr10:119672471-119672472	BAG3	H243fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 22824657.	NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) GRCh37: Chr10:121431989 GRCh38: Chr10:119672477	BAG3	Q244*	Primary dilated cardiomyopathy, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic/Likely pathogenic (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180511358.	NM_004281.4(BAG3):c.751dup (p.Gln251fs) GRCh37: Chr10:121432008-121432009 GRCh38: Chr10:119672496-119672497	BAG3	Q251fs	Dilated cardiomyopathy 1HH	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 93517759.	NM_004281.4(BAG3):c.751del (p.Gln251fs) GRCh37: Chr10:121432009 GRCh38: Chr10:119672497	BAG3	Q251fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 143297760.	NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) GRCh37: Chr10:121432010 GRCh38: Chr10:119672498	BAG3	Q251*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 86221161.	NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) GRCh37: Chr10:121432024 GRCh38: Chr10:119672512	BAG3	W255*	Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Dec 18, 2019)	criteria provided, multiple submitters, no conflicts
Select item 145648062.	NM_004281.4(BAG3):c.766G>T (p.Glu256Ter) GRCh37: Chr10:121432025 GRCh38: Chr10:119672513	BAG3	E256*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Jan 20, 2022)	criteria provided, single submitter
Select item 106930763.	NM_004281.4(BAG3):c.811C>T (p.Gln271Ter) GRCh37: Chr10:121432070 GRCh38: Chr10:119672558	BAG3	Q271*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 25, 2020)	criteria provided, single submitter
Select item 107060164.	NM_004281.4(BAG3):c.824del (p.Ser275fs) GRCh37: Chr10:121432083 GRCh38: Chr10:119672571	BAG3	S275fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 42724365.	NM_004281.4(BAG3):c.836C>A (p.Ser279Ter) GRCh37: Chr10:121432095 GRCh38: Chr10:119672583	BAG3	S279*	Primary familial dilated cardiomyopathy, not provided	Likely pathogenic (Jul 28, 2016)	criteria provided, single submitter
Select item 37362466.	NM_004281.4(BAG3):c.855_859dup (p.Leu287fs) GRCh37: Chr10:121432110-121432111 GRCh38: Chr10:119672598-119672599	BAG3	L287fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98748867.	NM_004281.4(BAG3):c.889_890del (p.Thr297fs) GRCh37: Chr10:121432145-121432146 GRCh38: Chr10:119672633-119672634	BAG3	T297fs	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 180545368.	NM_004281.4(BAG3):c.901_902del (p.Arg301fs) GRCh37: Chr10:121432160-121432161 GRCh38: Chr10:119672648-119672649	BAG3	R301fs	Dilated cardiomyopathy 1HH	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 208473369.	NM_004281.4(BAG3):c.907C>T (p.Gln303Ter) GRCh37: Chr10:121432166 GRCh38: Chr10:119672654	BAG3	Q303*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 22251270.	NM_004281.4(BAG3):c.909+1G>A GRCh37: Chr10:121432169 GRCh38: Chr10:119672657	BAG3		Primary dilated cardiomyopathy	Likely pathogenic (Mar 27, 2015)	criteria provided, single submitter
Select item 3039571.	NC_000010.11:g.119674391_119683123del GRCh37: Chr10:121433903-121442635 GRCh38: Chr10:119674391-119683123	BAG3		Dilated cardiomyopathy 1HH	Pathogenic (Mar 11, 2011)	no assertion criteria provided
Select item 180414472.	NC_000010.10:g.121434542_121438222del GRCh37: Chr10:121434542-121438222 GRCh38: Chr10:119675030-119678710	BAG3		Dilated cardiomyopathy 1HH	Pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 64535173.	NC_000010.11:g.(?_119676454)_(119677500_?)del GRCh37: Chr10:121435966-121437012 GRCh38: Chr10:119676454-119677500	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Jun 10, 2019)	criteria provided, single submitter
Select item 132426074.	NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) GRCh37: Chr10:121435976 GRCh38: Chr10:119676464	BAG3	Q304*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 22832275.	NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) GRCh37: Chr10:121435991 GRCh38: Chr10:119676479	BAG3	R309*	Primary dilated cardiomyopathy, Myocarditis, not provided, Cardiovascular phenotype, Primary familial dilated cardiomyopathy, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Primary dilated cardiomyopathy	Pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84033976.	NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) GRCh37: Chr10:121436012 GRCh38: Chr10:119676500	BAG3	Q316*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, not provided	Pathogenic/Likely pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68481677.	NM_004281.4(BAG3):c.969_972del (p.Lys324fs) GRCh37: Chr10:121436032-121436035 GRCh38: Chr10:119676520-119676523	BAG3	K324fs	Primary familial dilated cardiomyopathy, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85415978.	NM_004281.4(BAG3):c.974del (p.Pro325fs) GRCh37: Chr10:121436039 GRCh38: Chr10:119676527	BAG3	P325fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 205576479.	NM_004281.4(BAG3):c.1013dup (p.Ile339fs) GRCh37: Chr10:121436076-121436077 GRCh38: Chr10:119676564-119676565	BAG3	I339fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 96637480.	NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) GRCh37: Chr10:121436096-121436097 GRCh38: Chr10:119676584-119676585	BAG3	K344fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 51911681.	NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs) GRCh37: Chr10:121436099-121436103 GRCh38: Chr10:119676587-119676591	BAG3	E345fs	Cardiovascular phenotype	Pathogenic (Jul 29, 2016)	criteria provided, single submitter
Select item 132412582.	NM_004281.4(BAG3):c.1057del (p.Gln353fs) GRCh37: Chr10:121436121 GRCh38: Chr10:119676609	BAG3	Q353fs	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 95781883.	NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) GRCh37: Chr10:121436123 GRCh38: Chr10:119676611	BAG3	Q353*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 17976484.	NM_004281.4(BAG3):c.1067del (p.Pro356fs) GRCh37: Chr10:121436129 GRCh38: Chr10:119676617	BAG3	P356fs	Primary dilated cardiomyopathy, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149497385.	NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del) GRCh37: Chr10:121436153-121436773 GRCh38: Chr10:119676641-119677261	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely pathogenic (Jul 30, 2021)	criteria provided, single submitter
Select item 47179886.	NM_004281.4(BAG3):c.1161dup (p.Lys388fs) GRCh37: Chr10:121436222-121436223 GRCh38: Chr10:119676710-119676711	BAG3	K388fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 41023987.	NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) GRCh37: Chr10:121436306 GRCh38: Chr10:119676794	BAG3	E414*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 128454188.	NM_004281.4(BAG3):c.1257dup (p.Pro420fs) GRCh37: Chr10:121436322-121436323 GRCh38: Chr10:119676810-119676811	BAG3	P420fs	not provided	Pathogenic/Likely pathogenic	no assertion criteria provided
Select item 176210389.	NM_004281.4(BAG3):c.1257del (p.Pro420fs) GRCh37: Chr10:121436323 GRCh38: Chr10:119676811	BAG3	P420fs	Cardiovascular phenotype	Pathogenic (Aug 26, 2020)	criteria provided, single submitter
Select item 20168690.	NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) GRCh37: Chr10:121436332-121436341 GRCh38: Chr10:119676820-119676829	BAG3	L423fs	not provided, Cardiovascular phenotype	Pathogenic (Aug 26, 2020)	criteria provided, multiple submitters, no conflicts
Select item 26451891.	NM_004281.4(BAG3):c.1292dup (p.Val432fs) GRCh37: Chr10:121436356-121436357 GRCh38: Chr10:119676844-119676845	BAG3	V432fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype	Pathogenic (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47179992.	NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter) GRCh37: Chr10:121436362-121436363 GRCh38: Chr10:119676850-119676851	BAG3	Q433*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 18028393.	NM_004281.4(BAG3):c.1297C>T (p.Gln433Ter) GRCh37: Chr10:121436363 GRCh38: Chr10:119676851	BAG3	Q433*	Primary dilated cardiomyopathy	Likely pathogenic (Aug 20, 2014)	no assertion criteria provided
Select item 176953394.	NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter) GRCh37: Chr10:121436372 GRCh38: Chr10:119676860	BAG3	E436*	Cardiovascular phenotype	Likely pathogenic (Jun 7, 2018)	criteria provided, single submitter
Select item 145622695.	NM_004281.4(BAG3):c.1326dup (p.Glu443Ter) GRCh37: Chr10:121436389-121436390 GRCh38: Chr10:119676877-119676878	BAG3	E443*	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 41023096.	NM_004281.4(BAG3):c.1345A>T (p.Lys449Ter) GRCh37: Chr10:121436411 GRCh38: Chr10:119676899	BAG3	K449*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 106619597.	NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter) GRCh37: Chr10:121436414 GRCh38: Chr10:119676902	BAG3	K450*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 132396898.	NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter) GRCh37: Chr10:121436419 GRCh38: Chr10:119676907	BAG3	Y451*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 4477899.	NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) GRCh37: Chr10:121436429 GRCh38: Chr10:119676917	BAG3	E455K	Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided, Primary dilated cardiomyopathy	Pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39465100.	NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) GRCh37: Chr10:121436451 GRCh38: Chr10:119676939	BAG3	L462P	not provided	Likely pathogenic (Nov 18, 2020)	criteria provided, single submitter

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