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: rs397516248
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 1.000 2 2009 2014
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 1.000 1 2016 2016
dbSNP: rs1060501439
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs1559598775
rs1559598775
TTN ; TTN-AS1
0.882 0.200 2 178592056 stop gained G/A snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs587782927
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs587782961
rs587782961
MYH7
1.000 0.040 14 23430936 missense variant T/C snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs587782986
rs587782986
TTN ; TTN-AS1
1.000 0.040 2 178580401 frameshift variant TGTT/- delins 4.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs606231324
rs606231324
MYH7
0.851 0.080 14 23428505 missense variant C/G;T snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs730880199
rs730880199
RYR2
0.925 0.080 1 237819167 missense variant T/G snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs760187215
rs760187215
MYH7
1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs869025523
rs869025523
SCN5A
1.000 0.040 3 38597813 frameshift variant -/CA delins
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs869025544
rs869025544
TTN ; TTN-AS1
1.000 0.040 2 178594134 stop gained C/T snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0