ClinVar for MedGen (Select 414119) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000721.	NM_004281.4(BAG3):c.1108C>G (p.Pro370Ala) GRCh37: Chr10:121436174 GRCh38: Chr10:119676662	BAG3	P370A	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24250522.	NC_000010.10:g.(?_121429343)_(121432188_?)del GRCh37: Chr10:121429343-121432188	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 24203513.	NM_004281.4(BAG3):c.1411G>C (p.Glu471Gln) GRCh37: Chr10:121436477 GRCh38: Chr10:119676965	BAG3	E471Q	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 22025544.	NM_004281.4(BAG3):c.1302G>T (p.Gly434=) GRCh37: Chr10:121436368 GRCh38: Chr10:119676856	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 21971835.	NM_004281.4(BAG3):c.507+15G>C GRCh37: Chr10:121429704 GRCh38: Chr10:119670192	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 21930346.	NM_004281.4(BAG3):c.61C>G (p.Pro21Ala) GRCh37: Chr10:121411248 GRCh38: Chr10:119651736	BAG3	P21A	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 21917467.	NM_004281.4(BAG3):c.1554T>C (p.Asp518=) GRCh37: Chr10:121436620 GRCh38: Chr10:119677108	BAG3		Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Jan 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21917458.	NM_004281.4(BAG3):c.540A>C (p.Ser180=) GRCh37: Chr10:121431799 GRCh38: Chr10:119672287	BAG3		Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Jan 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21897989.	NM_004281.4(BAG3):c.957C>T (p.Asn319=) GRCh37: Chr10:121436023 GRCh38: Chr10:119676511	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 218844910.	NM_004281.4(BAG3):c.875C>T (p.Pro292Leu) GRCh37: Chr10:121432134 GRCh38: Chr10:119672622	BAG3	P292L	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218822311.	NM_004281.4(BAG3):c.714G>T (p.Gly238=) GRCh37: Chr10:121431973 GRCh38: Chr10:119672461	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 218803712.	NM_004281.4(BAG3):c.1219C>T (p.Pro407Ser) GRCh37: Chr10:121436285 GRCh38: Chr10:119676773	BAG3	P407S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 218574013.	NM_004281.4(BAG3):c.271C>T (p.Pro91Ser) GRCh37: Chr10:121429453 GRCh38: Chr10:119669941	BAG3	P91S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 217985914.	NM_004281.4(BAG3):c.639G>A (p.Glu213=) GRCh37: Chr10:121431898 GRCh38: Chr10:119672386	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 217704515.	NM_004281.4(BAG3):c.151G>A (p.Asp51Asn) GRCh37: Chr10:121411338 GRCh38: Chr10:119651826	BAG3	D51N	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 217679816.	NM_004281.4(BAG3):c.507+5G>A GRCh37: Chr10:121429694 GRCh38: Chr10:119670182	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 217599917.	NM_004281.4(BAG3):c.1633C>G (p.Pro545Ala) GRCh37: Chr10:121436699 GRCh38: Chr10:119677187	BAG3	P545A	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 217269118.	NM_004281.4(BAG3):c.1628A>C (p.Glu543Ala) GRCh37: Chr10:121436694 GRCh38: Chr10:119677182	BAG3	E543A	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216516619.	NM_004281.4(BAG3):c.1567G>A (p.Ala523Thr) GRCh37: Chr10:121436633 GRCh38: Chr10:119677121	BAG3	A523T	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 216250220.	NM_004281.4(BAG3):c.335A>G (p.His112Arg) GRCh37: Chr10:121429517 GRCh38: Chr10:119670005	BAG3	H112R	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216029621.	NM_004281.4(BAG3):c.490G>T (p.Ala164Ser) GRCh37: Chr10:121429672 GRCh38: Chr10:119670160	BAG3	A164S	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 215545022.	NM_004281.4(BAG3):c.1167T>G (p.Ser389Arg) GRCh37: Chr10:121436233 GRCh38: Chr10:119676721	BAG3	S389R	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 214400523.	NM_004281.4(BAG3):c.873G>A (p.Ser291=) GRCh37: Chr10:121432132 GRCh38: Chr10:119672620	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Benign (Sep 9, 2022)	criteria provided, single submitter
Select item 214251724.	NM_004281.4(BAG3):c.7G>A (p.Ala3Thr) GRCh37: Chr10:121411194 GRCh38: Chr10:119651682	BAG3	A3T	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 214214925.	NM_004281.4(BAG3):c.771C>G (p.Pro257=) GRCh37: Chr10:121432030 GRCh38: Chr10:119672518	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 213930126.	NM_004281.4(BAG3):c.1054T>C (p.Ser352Pro) GRCh37: Chr10:121436120 GRCh38: Chr10:119676608	BAG3	S352P	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 213832027.	NM_004281.4(BAG3):c.693G>C (p.Thr231=) GRCh37: Chr10:121431952 GRCh38: Chr10:119672440	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 213693328.	NM_004281.4(BAG3):c.137C>T (p.Thr46Ile) GRCh37: Chr10:121411324 GRCh38: Chr10:119651812	BAG3	T46I	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 213552129.	NM_004281.4(BAG3):c.1047A>T (p.Lys349Asn) GRCh37: Chr10:121436113 GRCh38: Chr10:119676601	BAG3	K349N	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213418530.	NM_004281.4(BAG3):c.1100C>T (p.Pro367Leu) GRCh37: Chr10:121436166 GRCh38: Chr10:119676654	BAG3	P367L	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 213301431.	NM_004281.4(BAG3):c.378G>C (p.Ala126=) GRCh37: Chr10:121429560 GRCh38: Chr10:119670048	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 212834932.	NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp) GRCh37: Chr10:121436775 GRCh38: Chr10:119677263	BAG3	G570D	Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212590333.	NM_004281.4(BAG3):c.1566G>A (p.Gln522=) GRCh37: Chr10:121436632 GRCh38: Chr10:119677120	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 212489034.	NM_004281.4(BAG3):c.1682A>C (p.Asn561Thr) GRCh37: Chr10:121436748 GRCh38: Chr10:119677236	BAG3	N561T	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212089635.	NM_004281.4(BAG3):c.479C>T (p.Ala160Val) GRCh37: Chr10:121429661 GRCh38: Chr10:119670149	BAG3	A160V	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 212067436.	NM_004281.4(BAG3):c.948G>T (p.Gln316His) GRCh37: Chr10:121436014 GRCh38: Chr10:119676502	BAG3	Q316H	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211886637.	NM_004281.4(BAG3):c.1725G>T (p.Pro575=) GRCh37: Chr10:121436791 GRCh38: Chr10:119677279	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 211872638.	NM_004281.4(BAG3):c.104G>A (p.Gly35Asp) GRCh37: Chr10:121411291 GRCh38: Chr10:119651779	BAG3	G35D	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211601439.	NM_004281.4(BAG3):c.1599C>G (p.Asp533Glu) GRCh37: Chr10:121436665 GRCh38: Chr10:119677153	BAG3	D533E	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 211548240.	NM_004281.4(BAG3):c.746A>G (p.Lys249Arg) GRCh37: Chr10:121432005 GRCh38: Chr10:119672493	BAG3	K249R	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 211219641.	NM_004281.4(BAG3):c.1084G>A (p.Val362Ile) GRCh37: Chr10:121436150 GRCh38: Chr10:119676638	BAG3	V362I	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211070842.	NM_004281.4(BAG3):c.871T>A (p.Ser291Thr) GRCh37: Chr10:121432130 GRCh38: Chr10:119672618	BAG3	S291T	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211002143.	NM_004281.4(BAG3):c.806C>T (p.Ser269Phe) GRCh37: Chr10:121432065 GRCh38: Chr10:119672553	BAG3	S269F	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210998044.	NM_004281.4(BAG3):c.1585G>T (p.Ala529Ser) GRCh37: Chr10:121436651 GRCh38: Chr10:119677139	BAG3	A529S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210919245.	NM_004281.4(BAG3):c.1060A>G (p.Lys354Glu) GRCh37: Chr10:121436126 GRCh38: Chr10:119676614	BAG3	K354E	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210856046.	NM_004281.4(BAG3):c.1536C>T (p.Pro512=) GRCh37: Chr10:121436602 GRCh38: Chr10:119677090	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 210719047.	NM_004281.4(BAG3):c.99G>A (p.Gln33=) GRCh37: Chr10:121411286 GRCh38: Chr10:119651774	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 210604348.	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 210568649.	NM_004281.4(BAG3):c.1408C>A (p.Pro470Thr) GRCh37: Chr10:121436474 GRCh38: Chr10:119676962	BAG3	P470T	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 210402550.	NM_004281.4(BAG3):c.1074C>G (p.Pro358=) GRCh37: Chr10:121436140 GRCh38: Chr10:119676628	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 209870651.	NM_004281.4(BAG3):c.310G>C (p.Glu104Gln) GRCh37: Chr10:121429492 GRCh38: Chr10:119669980	BAG3	E104Q	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209443752.	NM_004281.4(BAG3):c.251C>G (p.Pro84Arg) GRCh37: Chr10:121429433 GRCh38: Chr10:119669921	BAG3	P84R	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209067153.	NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter) GRCh37: Chr10:121436480 GRCh38: Chr10:119676968	BAG3	G472*	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 209012354.	NM_004281.4(BAG3):c.261C>G (p.Pro87=) GRCh37: Chr10:121429443 GRCh38: Chr10:119669931	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 209007555.	NM_004281.4(BAG3):c.176C>G (p.Pro59Arg) GRCh37: Chr10:121411363 GRCh38: Chr10:119651851	BAG3	P59R	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 208845956.	NM_004281.4(BAG3):c.833G>T (p.Gly278Val) GRCh37: Chr10:121432092 GRCh38: Chr10:119672580	BAG3	G278V	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208845857.	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 208687758.	NM_004281.4(BAG3):c.20C>T (p.Ser7Leu) GRCh37: Chr10:121411207 GRCh38: Chr10:119651695	BAG3	S7L	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 208473359.	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 208380060.	NM_004281.4(BAG3):c.843C>T (p.Ala281=) GRCh37: Chr10:121432102 GRCh38: Chr10:119672590	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 208372861.	NM_004281.4(BAG3):c.456A>G (p.Gly152=) GRCh37: Chr10:121429638 GRCh38: Chr10:119670126	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 207862762.	NM_004281.4(BAG3):c.1361T>C (p.Ile454Thr) GRCh37: Chr10:121436427 GRCh38: Chr10:119676915	BAG3	I454T	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 207322963.	NM_004281.4(BAG3):c.259C>T (p.Pro87Ser) GRCh37: Chr10:121429441 GRCh38: Chr10:119669929	BAG3	P87S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 207127564.	NM_004281.4(BAG3):c.69C>G (p.Pro23=) GRCh37: Chr10:121411256 GRCh38: Chr10:119651744	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 206926865.	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 206651766.	NM_004281.4(BAG3):c.1537A>G (p.Ser513Gly) GRCh37: Chr10:121436603 GRCh38: Chr10:119677091	BAG3	S513G	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 206186667.	NM_004281.4(BAG3):c.538T>G (p.Ser180Ala) GRCh37: Chr10:121431797 GRCh38: Chr10:119672285	BAG3	S180A	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 205644368.	NM_004281.4(BAG3):c.665A>G (p.Gln222Arg) GRCh37: Chr10:121431924 GRCh38: Chr10:119672412	BAG3	Q222R	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 205576469.	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 205548570.	NM_004281.4(BAG3):c.909+5G>A GRCh37: Chr10:121432173 GRCh38: Chr10:119672661	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 205067071.	NM_004281.4(BAG3):c.1646C>G (p.Thr549Ser) GRCh37: Chr10:121436712 GRCh38: Chr10:119677200	BAG3	T549S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 204938072.	NM_004281.4(BAG3):c.1114C>T (p.Pro372Ser) GRCh37: Chr10:121436180 GRCh38: Chr10:119676668	BAG3	P372S	not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204619973.	NM_004281.4(BAG3):c.1511_1521del (p.Gln504fs) GRCh37: Chr10:121436570-121436580 GRCh38: Chr10:119677058-119677068	BAG3	Q504fs	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 204469274.	NM_004281.4(BAG3):c.550T>A (p.Ser184Thr) GRCh37: Chr10:121431809 GRCh38: Chr10:119672297	BAG3	S184T	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 204457575.	NM_004281.4(BAG3):c.329C>G (p.Pro110Arg) GRCh37: Chr10:121429511 GRCh38: Chr10:119669999	BAG3	P110R	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 204140276.	NM_004281.4(BAG3):c.907C>G (p.Gln303Glu) GRCh37: Chr10:121432166 GRCh38: Chr10:119672654	BAG3	Q303E	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 204032677.	NM_004281.4(BAG3):c.1026C>G (p.Ile342Met) GRCh37: Chr10:121436092 GRCh38: Chr10:119676580	BAG3	I342M	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 203588678.	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 203517179.	NM_004281.4(BAG3):c.843C>G (p.Ala281=) GRCh37: Chr10:121432102 GRCh38: Chr10:119672590	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 203399180.	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 203183281.	NM_004281.4(BAG3):c.780G>A (p.Leu260=) GRCh37: Chr10:121432039 GRCh38: Chr10:119672527	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202985082.	NM_004281.4(BAG3):c.468GGC[2] (p.Ala160del) GRCh37: Chr10:121429648-121429650 GRCh38: Chr10:119670136-119670138	BAG3	A160del	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 202488383.	NM_004281.4(BAG3):c.994C>T (p.Leu332Phe) GRCh37: Chr10:121436060 GRCh38: Chr10:119676548	BAG3	L332F	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 202038084.	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 201392785.	NM_004281.4(BAG3):c.477_479dup (p.Ala160_Gln161insAla) GRCh37: Chr10:121429656-121429657 GRCh38: Chr10:119670144-119670145	BAG3		Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 200783086.	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 200650787.	NM_004281.4(BAG3):c.466G>A (p.Ala156Thr) GRCh37: Chr10:121429648 GRCh38: Chr10:119670136	BAG3	A156T	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200009788.	NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn) GRCh37: Chr10:121431800-121431801 GRCh38: Chr10:119672288-119672289	BAG3	S181N	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199855189.	NM_004281.4(BAG3):c.115T>A (p.Phe39Ile) GRCh37: Chr10:121411302 GRCh38: Chr10:119651790	BAG3	F39I	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199786090.	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 199616491.	NM_004281.4(BAG3):c.1146T>A (p.Ala382=) GRCh37: Chr10:121436212 GRCh38: Chr10:119676700	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199536992.	NM_004281.4(BAG3):c.1728G>A (p.Ter576=) GRCh37: Chr10:121436794 GRCh38: Chr10:119677282	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 199005293.	NM_004281.4(BAG3):c.507+10G>A GRCh37: Chr10:121429699 GRCh38: Chr10:119670187	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 198557394.	NM_004281.4(BAG3):c.95C>T (p.Pro32Leu) GRCh37: Chr10:121411282 GRCh38: Chr10:119651770	BAG3	P32L	not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198472095.	NM_004281.4(BAG3):c.742C>T (p.His248Tyr) GRCh37: Chr10:121432001 GRCh38: Chr10:119672489	BAG3	H248Y	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 198267096.	NM_004281.4(BAG3):c.533A>G (p.Asp178Gly) GRCh37: Chr10:121431792 GRCh38: Chr10:119672280	BAG3	D178G	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 197683397.	NM_004281.4(BAG3):c.910-17T>C GRCh37: Chr10:121435959 GRCh38: Chr10:119676447	BAG3		Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 197208298.	NM_004281.4(BAG3):c.1480C>T (p.Leu494Phe) GRCh37: Chr10:121436546 GRCh38: Chr10:119677034	BAG3	L494F	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 196933099.	NM_004281.4(BAG3):c.1492G>T (p.Ala498Ser) GRCh37: Chr10:121436558 GRCh38: Chr10:119677046	BAG3	A498S	Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 1967612100.	NM_004281.4(BAG3):c.1604G>C (p.Gly535Ala) GRCh37: Chr10:121436670 GRCh38: Chr10:119677158	BAG3	G535A	Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter

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