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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620522	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3 (S7*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1797440	NM_004281.4(BAG3):c.29_35del (p.Met10fs)	BAG3 (M10fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2948391	NM_004281.4(BAG3):c.36_40del (p.Ala13fs)	BAG3 (A13fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1452208	NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)	BAG3 (S14fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 966196	NM_004281.4(BAG3):c.72dup (p.Gly25fs)	BAG3 (G25fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 162769	NM_004281.4(BAG3):c.72del (p.Gly25fs)	BAG3 (G25fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +2 more	GPathogenic/Likely pathogenic
Select item 505229	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3 (W26*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 2007830	NM_004281.4(BAG3):c.96_97del (p.Gln33fs)	BAG3 (Q33fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 180009	NM_004281.4(BAG3):c.100_107del (p.Thr34fs)	BAG3 (T34fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 949224	NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)	BAG3 (W36*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2587228	NM_004281.4(BAG3):c.138_159del (p.Thr47fs)	BAG3 (T47fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 566338	NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)	BAG3 (W49*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2942074	NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)	BAG3 (W49*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2035886	NM_004281.4(BAG3):c.160del (p.Val54fs)	BAG3 (V54fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1396666	NM_004281.4(BAG3):c.165del (p.Ser56fs)	BAG3 (S56fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 418720	NM_004281.4(BAG3):c.206dup (p.Ser70fs)	BAG3 (S70fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 2453001	NM_004281.4(BAG3):c.223del (p.Arg75fs)	BAG3 (R75fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 560609	NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)	BAG3 (P87fs)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 2580402	NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)	BAG3 (Y86*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 504333	NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	BAG3 (Y86*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 518933	NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)	BAG3 (Q88*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +2 more	GPathogenic
Select item 372723	NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)	BAG3 (R90*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +3 more	GPathogenic
Select item 566318	NM_004281.4(BAG3):c.277dup (p.Tyr93fs)	BAG3 (Y93fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2953904	NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)	BAG3 (I96fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 957662	NM_004281.4(BAG3):c.329dup (p.His112fs)	BAG3 (H112fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1324087	NM_004281.4(BAG3):c.331_332del (p.Phe111fs)	BAG3 (F111fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 636515	NM_004281.4(BAG3):c.339del (p.Tyr114fs)	BAG3 (Y114fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1075312	NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)	BAG3 (G118fs)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2946157	NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)	BAG3 (Q116*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 422326	NM_004281.4(BAG3):c.350dup (p.Gly118fs)	BAG3 (G118fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1997860	NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)	BAG3 (Q120*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1324094	NM_004281.4(BAG3):c.361C>T (p.Arg121Ter)	BAG3 (R121*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 30397	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	BAG3 (R123*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +4 more	GPathogenic/Likely pathogenic
Select item 1736414	NM_004281.4(BAG3):c.394C>T (p.Gln132Ter)	BAG3 (Q132*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 842686	NM_004281.4(BAG3):c.403C>T (p.Gln135Ter)	BAG3 (Q135*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 2069268	NM_004281.4(BAG3):c.434_437del (p.Thr145fs)	BAG3 (T145fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 3236259	NM_004281.4(BAG3):c.436C>T (p.Gln146Ter)	BAG3 (Q146*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 1879146	NM_004281.4(BAG3):c.447dup (p.Gln150fs)	BAG3 (Q150fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2020380	NM_004281.4(BAG3):c.448_449del (p.Gln150fs)	BAG3 (Q150fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2943550	NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)	BAG3 (Q150*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1324072	NM_004281.4(BAG3):c.457C>T (p.Gln153Ter)	BAG3 (Q153*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 264102	NM_004281.4(BAG3):c.481C>T (p.Gln161Ter)	BAG3 (Q161*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1453625	NM_004281.4(BAG3):c.488del (p.Pro163fs)	BAG3 (P163fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1466662	NM_004281.4(BAG3):c.508-14_514del	BAG3	Deletion (splice acceptor variant)	Dilated cardiomyopathy 1HH +1 more	GLikely pathogenic
Select item 2033991	NM_004281.4(BAG3):c.508-1G>A	BAG3	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1HH +1 more	GLikely pathogenic
Select item 648595	NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)	BAG3 (Q172*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1075572	NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer)	BAG3	Microsatellite (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 570844	NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)	BAG3 (C179*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 978309	NM_004281.4(BAG3):c.568_577del (p.Ser190fs)	BAG3 (S190fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 422311	NM_004281.4(BAG3):c.580del (p.Ser194fs)	BAG3 (S194fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1362749	NM_004281.4(BAG3):c.598C>T (p.Gln200Ter)	BAG3 (Q200*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 410229	NM_004281.4(BAG3):c.607dup (p.Arg203fs)	BAG3 (R203fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +2 more	GPathogenic
Select item 1675064	NM_004281.4(BAG3):c.612del (p.Tyr205fs)	BAG3 (Y205fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +3 more	GPathogenic/Likely pathogenic
Select item 657299	NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3 (P209S)	Single nucleotide variant (missense variant)	Abnormality of the musculature +4 more	GPathogenic/Likely pathogenic
Select item 156530	NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)	BAG3 (P209Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 5981	NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	BAG3 (P209L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 1398633	NM_004281.4(BAG3):c.640C>T (p.Gln214Ter)	BAG3 (Q214*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 30398	NM_004281.4(BAG3):c.652del (p.Arg218fs)	BAG3 (R218fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH	GPathogenic
Select item 1076610	NM_004281.4(BAG3):c.654del (p.Pro219fs)	BAG3 (P219fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 431449	NM_004281.4(BAG3):c.670dup (p.Ser224fs)	BAG3 (S224fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 234982	NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)	BAG3 (Y233*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +3 more	GPathogenic
Select item 1188147	NM_004281.4(BAG3):c.709C>T (p.Gln237Ter)	BAG3 (Q237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987117	NM_004281.4(BAG3):c.715G>T (p.Glu239Ter)	BAG3 (E239*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2088458	NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)	BAG3 (Y240*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2106043	NM_004281.4(BAG3):c.727dup (p.His243fs)	BAG3 (H243fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 228246	NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)	BAG3 (Q244*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 1805113	NM_004281.4(BAG3):c.751dup (p.Gln251fs)	BAG3 (Q251fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 935177	NM_004281.4(BAG3):c.751del (p.Gln251fs)	BAG3 (Q251fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1432977	NM_004281.4(BAG3):c.751C>T (p.Gln251Ter)	BAG3 (Q251*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2447229	NM_004281.4(BAG3):c.764G>A (p.Trp255Ter)	BAG3 (W255*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 862211	NM_004281.4(BAG3):c.765G>A (p.Trp255Ter)	BAG3 (W255*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1456480	NM_004281.4(BAG3):c.766G>T (p.Glu256Ter)	BAG3 (E256*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2938103	NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)	BAG3 (S268*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1069307	NM_004281.4(BAG3):c.811C>T (p.Gln271Ter)	BAG3 (Q271*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1070601	NM_004281.4(BAG3):c.824del (p.Ser275fs)	BAG3 (S275fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 427243	NM_004281.4(BAG3):c.836C>A (p.Ser279Ter)	BAG3 (S279*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 373624	NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)	BAG3 (L287fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +2 more	GPathogenic/Likely pathogenic
Select item 987488	NM_004281.4(BAG3):c.889_890del (p.Thr297fs)	BAG3 (T297fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1805453	NM_004281.4(BAG3):c.901_902del (p.Arg301fs)	BAG3 (R301fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 2084733	NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)	BAG3 (Q303*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2580651	NM_004281.4(BAG3):c.909+1G>C	BAG3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 222512	NM_004281.4(BAG3):c.909+1G>A	BAG3	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 30395	NC_000010.11:g.119674392_119683124del	BAG3	Deletion	Dilated cardiomyopathy 1HH	GPathogenic
Select item 1804144	NC_000010.11:g.119675031_119678711del	BAG3	Deletion	Dilated cardiomyopathy 1HH	GPathogenic
Select item 645351	NC_000010.11:g.(?_119676454)_(119677500_?)del	BAG3	Deletion	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1324260	NM_004281.4(BAG3):c.910C>T (p.Gln304Ter)	BAG3 (Q304*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +2 more	GPathogenic/Likely pathogenic
Select item 228322	NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)	BAG3 (R309*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +6 more	GPathogenic
Select item 840339	NM_004281.4(BAG3):c.946C>T (p.Gln316Ter)	BAG3 (Q316*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +2 more	GPathogenic/Likely pathogenic
Select item 684816	NM_004281.4(BAG3):c.969_972del (p.Lys324fs)	BAG3 (K324fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 854159	NM_004281.4(BAG3):c.974del (p.Pro325fs)	BAG3 (P325fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2941374	NM_004281.4(BAG3):c.1009dup (p.Ile337fs)	BAG3 (I337fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2055764	NM_004281.4(BAG3):c.1013dup (p.Ile339fs)	BAG3 (I339fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 966374	NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs)	BAG3 (K344fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 519116	NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs)	BAG3 (E345fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1324125	NM_004281.4(BAG3):c.1057del (p.Gln353fs)	BAG3 (Q353fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 957818	NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter)	BAG3 (Q353*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2942604	NM_004281.4(BAG3):c.1067dup (p.Pro357fs)	BAG3 (P357fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 179764	NM_004281.4(BAG3):c.1067del (p.Pro356fs)	BAG3 (P356fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +2 more	GPathogenic/Likely pathogenic
Select item 1494973	NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del)	BAG3	Deletion (inframe_deletion)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2501612	NM_004281.4(BAG3):c.1131_1134del (p.Ser377fs)	BAG3 (S377fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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