Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554875409
rs1554875409
BAG3
10 119651752 stop gained G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2015 2015
dbSNP: rs1564773559
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727502897
rs727502897
BAG3
10 119651742 frameshift variant C/-;CC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727505283
rs727505283
BAG3
10 119651774 frameshift variant ACCGGCTG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880055
rs730880055
BAG3
10 119676851 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025365
rs869025365
BAG3
10 119672657 splice donor variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.800 1.000 12 2009 2016
dbSNP: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 1.000 11 2009 2016
dbSNP: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.730 1.000 0 2010 2016
dbSNP: rs397516881
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 4 2011 2017
dbSNP: rs397516881
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 1.000 2 1990 2014
dbSNP: rs397516881
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.800 1.000 2 1990 2014
dbSNP: rs869248137
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2011 2014
dbSNP: rs869248137
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 1.000 1 2014 2014
dbSNP: rs869248137
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 1.000 1 2014 2014
dbSNP: rs869248137
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs387906875
rs387906875
BAG3
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2011 2015
dbSNP: rs1057517945
rs1057517945
BAG3
0.925 0.080 10 119669938 stop gained C/T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 1.000 1 2011 2011
dbSNP: rs1057517945
rs1057517945
BAG3
0.925 0.080 10 119669938 stop gained C/T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 1.000 1 2011 2011
dbSNP: rs387906875
rs387906875
BAG3
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 1.000 1 2011 2011
dbSNP: rs387906875
rs387906875
BAG3
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 1.000 1 2011 2011
dbSNP: rs1554877001
rs1554877001
BAG3
0.925 0.080 10 119669932 stop gained C/T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs1554877001
rs1554877001
BAG3
0.925 0.080 10 119669932 stop gained C/T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0
dbSNP: rs1564767043
rs1564767043
BAG3
0.925 0.080 10 119651821 stop gained G/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0