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: rs111033559
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		0.800 1.000 0 2003 2012
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 9 2003 2018
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 0.833 6 2003 2013
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: rs397516784
rs397516784
PLN ; CEP85L
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 7 2006 2012
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		0.700 1.000 6 2003 2017
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		0.700 1.000 5 2006 2013
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 3 2006 2013
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C3151265
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 		0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.700 0
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 0
dbSNP: rs794729138
rs794729138
PLN ; CEP85L
1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0