List of variants reported as pathogenic for Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 91

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	rs387906875	0.00001
NC_000010.10:g.(?_121411178)_(121437012_?)del
NC_000010.10:g.(?_121411188)_(121411387_?)del
NC_000010.10:g.(?_121429343)_(121436794_?)del
NC_000010.10:g.(?_121435956)_(121436794_?)del
NC_000010.11:g.(?_119676454)_(119677500_?)del
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
NM_004281.4(BAG3):c.100_109del (p.Thr34fs)
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs)	rs1847237761
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter)	rs1847238300
NM_004281.4(BAG3):c.1057del (p.Gln353fs)	rs2134068813
NM_004281.4(BAG3):c.1067del (p.Pro356fs)	rs727505109
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del)	rs2134068860
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)	rs1846844070
NM_004281.4(BAG3):c.1118_1125del (p.Cys373fs)
NM_004281.4(BAG3):c.1131_1134del (p.Ser377fs)
NM_004281.4(BAG3):c.1161dup (p.Lys388fs)	rs1554877765
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)	rs117749531
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs)	rs794728981
NM_004281.4(BAG3):c.1292dup (p.Val432fs)	rs886039182
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter)	rs2134069217
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter)	rs765426544
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter)	rs2134069248
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)	rs397516881
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser)	rs756020699
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)	rs1564767043
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
NM_004281.4(BAG3):c.160del (p.Val54fs)
NM_004281.4(BAG3):c.165del (p.Ser56fs)	rs2134050674
NM_004281.4(BAG3):c.206dup (p.Ser70fs)	rs1554876984
NM_004281.4(BAG3):c.257dup (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	rs1554876999
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)	rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)	rs1057517945
NM_004281.4(BAG3):c.277dup (p.Tyr93fs)	rs1564773589
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
NM_004281.4(BAG3):c.329dup (p.His112fs)	rs1344275862
NM_004281.4(BAG3):c.331_332del (p.Phe111fs)	rs2134063372
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter)	rs2134063421
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)	rs2134050486
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter)	rs1847126002
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter)	rs1474660052
NM_004281.4(BAG3):c.488del (p.Pro163fs)	rs1847128695
NM_004281.4(BAG3):c.4dup (p.Ser2fs)
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)	rs1589630001
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer)	rs2134064943
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)	rs1564774433
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter)	rs2134065052
NM_004281.4(BAG3):c.607dup (p.Arg203fs)	rs1554877224
NM_004281.4(BAG3):c.612del (p.Tyr205fs)	rs2134065084
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)	rs1589630141
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)	rs121918312
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	rs121918312
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter)	rs2134065136
NM_004281.4(BAG3):c.654del (p.Pro219fs)	rs2134065158
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)	rs876661342
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
NM_004281.4(BAG3):c.727dup (p.His243fs)
NM_004281.4(BAG3):c.72del (p.Gly25fs)	rs727502897
NM_004281.4(BAG3):c.72dup (p.Gly25fs)	rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)	rs876657634
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter)	rs1343231277
NM_004281.4(BAG3):c.751del (p.Gln251fs)	rs1847165958
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter)	rs1564774668
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter)	rs2134065278
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	rs1554875409
NM_004281.4(BAG3):c.784del (p.Ala262fs)
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter)	rs2134065350
NM_004281.4(BAG3):c.821C>A (p.Ser274Ter)	rs143919208
NM_004281.4(BAG3):c.824del (p.Ser275fs)	rs2134065363
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)	rs1057518511
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter)	rs2134068635
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)	rs869248137
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter)	rs1847236072
NM_004281.4(BAG3):c.969_972del (p.Lys324fs)	rs1589632398
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
NM_004281.4(BAG3):c.974del (p.Pro325fs)	rs1847236575

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.