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: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 36 1990 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 24 1990 2015
dbSNP: rs397515912
rs397515912
MYBPC3
0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05
CUI: C1963282
Disease: Wolff-Parkinson-White Syndrome, CTCAE
Wolff-Parkinson-White Syndrome, CTCAE 		0.700 1.000 20 2006 2017
dbSNP: rs397515912
rs397515912
MYBPC3
0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 20 2006 2017
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 18 1998 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 16 1997 2017
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 15 1998 2017
dbSNP: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 12 1995 2014
dbSNP: rs397516068
rs397516068
MYBPC3
0.882 0.080 11 47348541 missense variant C/A;G snv 4.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 12 2004 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1997 2017
dbSNP: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1995 2014
dbSNP: rs397516000
rs397516000
MYBPC3
0.882 0.080 11 47333682 missense variant C/G;T snv 2.4E-05; 4.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 2005 2017
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 2003 2016
dbSNP: rs397515947
rs397515947
MYBPC3
1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1998 2017
dbSNP: rs573916965
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 9 1995 2017
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: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2014
dbSNP: rs36211723
rs36211723
MYBPC3
0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2004 2015
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 8 2008 2015
dbSNP: rs397515912
rs397515912
MYBPC3
0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2008 2017
dbSNP: rs397515991
rs397515991
MYBPC3
0.925 0.080 11 47335041 splice donor variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1997 2017
dbSNP: rs397516020
rs397516020
MYBPC3
0.925 0.080 11 47332813 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1997 2017
dbSNP: rs187830361
rs187830361
MYBPC3
0.882 0.080 11 47337729 missense variant A/C;G;T snv 1.7E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2004 2017
dbSNP: rs36211723
rs36211723
MYBPC3
0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 7 2004 2017
dbSNP: rs387906397
rs387906397
MYBPC3
0.851 0.080 11 47333192 splice donor variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1995 2013