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: rs1408345511
rs1408345511
TTN ; TTN-AS1
2 178740175 frameshift variant G/- delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs148894066
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553577362
rs1553577362
TTN ; TTN-AS1
2 178564611 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553603456
rs1553603456
TTN ; TTN-AS1
2 178570689 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553607425
rs1553607425
TTN ; TTN-AS1
2 178572745 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553691320
rs1553691320
TTN ; TTN-AS1
2 178609440 frameshift variant T/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553741321
rs1553741321
TTN ; TTN-AS1
2 178633304 frameshift variant -/T delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1555338080
rs1555338080
MYH7
14 23427274 missense variant C/G snv
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: 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: 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: 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: 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: 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