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: rs756433029
rs756433029
TTN ; TTN-AS1 ; LOC101927055
2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517698
rs397517698
TTN ; TTN-AS1 ; LOC101927055
2 178775030 frameshift variant TTCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025559
rs869025559
TTN ; TTN-AS1
2 178562342 frameshift variant TT/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727503559
rs727503559
TTN ; TTN-AS1
1.000 0.040 2 178565120 frameshift variant TGGCAGCCACCAGTAT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727504825
rs727504825
TTN ; TTN-AS1
2 178614082 frameshift variant TGAACTGGTTCACCAACACC/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727504394
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312038
rs869312038
TTN ; TTN-AS1
2 178740589 frameshift variant TG/- delins 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727503546
rs727503546
TTN ; TTN-AS1
2 178547178 frameshift variant TCTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2013 2013
dbSNP: rs730880246
rs730880246
TTN ; TTN-AS1
2 178533013 frameshift variant TCTC/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516364
rs397516364
TPM1
0.925 0.080 15 63042852 missense variant T/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2000 2000
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 0 2003 2003
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs6716782
rs6716782
TTN ; TTN-AS1
2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025398
rs869025398
DSP
6 7567451 splice donor variant T/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs199476310
rs199476310
TPM1
15 63057019 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2010 2011
dbSNP: rs267607593
rs267607593
LMNA
1 156134964 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2003 2008
dbSNP: rs267607594
rs267607594
LMNA
0.925 0.120 1 156130745 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2000 2008
dbSNP: rs397517886
rs397517886
LMNA
1 156136070 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880132
rs730880132
LMNA
1 156134875 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880140
rs730880140
MYBPC3
1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025548
rs869025548
TTN ; TTN-AS1
2 178620627 splice acceptor variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025549
rs869025549
TTN ; TTN-AS1
2 178583229 splice acceptor variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025550
rs869025550
TTN ; TTN-AS1
2 178579395 splice acceptor variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs876657667
rs876657667
TTN ; TTN-AS1
2 178586809 splice acceptor variant T/C 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