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: rs1555338080
rs1555338080
MYH7
14 23427274 missense variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1557315928
rs1557315928
DMD
X 32380517 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1559415567
rs1559415567
TTN ; TTN-AS1
0.925 0.160 2 178572564 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1559877046
rs1559877046
TTN ; TTN-AS1
2 178621183 stop gained T/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1561703922
rs1561703922
DSP
6 7584830 frameshift variant ACAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1564664312
rs1564664312
RBM20
1.000 0.040 10 110821333 missense variant T/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1564773559
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1565050320
rs1565050320
CSRP3
11 19185040 missense variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1565053085
rs1565053085
CSRP3
11 19192353 synonymous variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1565053147
rs1565053147
CSRP3
11 19192403 missense variant T/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs199476401
rs199476401
MYPN
1.000 10 68121896 missense variant A/C;G snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs200797552
rs200797552
TTN ; TTN-AS1
2 178578078 stop gained C/A;T snv 3.3E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs201754030
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs202234172
rs202234172
TTN ; TTN-AS1
2 178689897 splice acceptor variant C/T snv 3.4E-04 4.7E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs267607577
rs267607577
LMNA
1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs368200299
rs368200299
TTN ; TTN-AS1
2 178620285 stop gained G/A;T snv 4.9E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs368452607
rs368452607
TTN ; TTN-AS1
2 178588700 stop gained G/A;T snv 4.0E-06; 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs373040154
rs373040154
TTN ; TTN-AS1
0.925 0.160 2 178617388 stop gained G/A;T snv 3.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs377491278
rs377491278
MYH7
14 23427773 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397515750
rs397515750
TAZ
X 154420948 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397515939
rs397515939
MYBPC3
11 47339758 missense variant G/A;C snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516122
rs397516122
MYH7
14 23427682 missense variant G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0