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: rs397516044
rs397516044
MYBPC3
0.925 0.080 11 47331882 splice acceptor variant C/T snv 4.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516044
rs397516044
MYBPC3
0.925 0.080 11 47331882 splice acceptor variant C/T snv 4.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs869025470
rs869025470
MYBPC3
1.000 0.080 11 47332070 splice donor variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2008 2013
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2008 2013
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397514751
rs397514751
MYBPC3
1.000 11 47332095 missense variant C/A;T snv
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.800 1.000 0 2010 2010
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 9 2008 2017
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2009 2009
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.700 1.000 1 2009 2009
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880604
rs730880604
MYBPC3
1.000 0.080 11 47332113 stop gained A/C;G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880603
rs730880603
MYBPC3
0.925 0.080 11 47332115 missense variant G/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2013 2017
dbSNP: rs730880603
rs730880603
MYBPC3
0.925 0.080 11 47332115 missense variant G/T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs397516040
rs397516040
MYBPC3
0.925 0.080 11 47332117 inframe deletion TGG/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2014 2017
dbSNP: rs397516040
rs397516040
MYBPC3
0.925 0.080 11 47332117 inframe deletion TGG/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2014 2014
dbSNP: rs727503167
rs727503167
MYBPC3
0.925 0.080 11 47332123 missense variant C/T snv 6.8E-05 1.4E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 5 2003 2017
dbSNP: rs727503167
rs727503167
MYBPC3
0.925 0.080 11 47332123 missense variant C/T snv 6.8E-05 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2003 2009
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1995 2014
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 1995 2014
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516039
rs397516039
MYBPC3
1.000 0.040 11 47332133 stop gained A/C;G snv 1.0E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0