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: rs1025692267
rs1025692267
MYBPC3
1.000 0.080 11 47343342 intron variant C/T snv 5.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2019 2019
dbSNP: rs1060499604
rs1060499604
MYBPC3
0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2009 2009
dbSNP: rs1060499604
rs1060499604
MYBPC3
0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1060499604
rs1060499604
MYBPC3
0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1060499604
rs1060499604
MYBPC3
0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs1060499673
rs1060499673
MYBPC3
1.000 0.080 11 47333199 frameshift variant CT/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1060501474
rs1060501474
MYBPC3
0.925 0.080 11 47338563 missense variant G/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 5 1998 2008
dbSNP: rs1060501475
rs1060501475
MYBPC3
1.000 0.080 11 47333647 frameshift variant C/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1060501478
rs1060501478
MYBPC3
1.000 0.040 11 47338549 frameshift variant T/- del
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1060501479
rs1060501479
MYBPC3
1.000 0.040 11 47351465 frameshift variant -/C ins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1060501480
rs1060501480
MYBPC3
1.000 0.040 11 47332221 frameshift variant C/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1060501481
rs1060501481
MYBPC3
1.000 0.040 11 47337420 frameshift variant -/TT delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1060501484
rs1060501484
MYBPC3
1.000 0.040 11 47332576 frameshift variant C/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2013 2017
dbSNP: rs1064792936
rs1064792936
MYBPC3
1.000 0.040 11 47351272 frameshift variant TGG/CCTCC delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1064793202
rs1064793202
MYBPC3
0.925 0.080 11 47333622 frameshift variant -/TT delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 1998 1998
dbSNP: rs1064793202
rs1064793202
MYBPC3
0.925 0.080 11 47333622 frameshift variant -/TT delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1114167419
rs1114167419
MYBPC3
1.000 0.080 11 47343261 stop gained T/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs111437311
rs111437311
MYBPC3
0.925 0.080 11 47342576 splice donor variant A/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2003 2017
dbSNP: rs111437311
rs111437311
MYBPC3
0.925 0.080 11 47342576 splice donor variant A/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2003 2017
dbSNP: rs111683277
rs111683277
MYBPC3
0.925 0.080 11 47333556 splice donor variant C/G;T snv 4.2E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 6 2010 2017
dbSNP: rs111683277
rs111683277
MYBPC3
0.925 0.080 11 47333556 splice donor variant C/G;T snv 4.2E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2009 2009
dbSNP: rs111729952
rs111729952
MYBPC3
0.925 0.080 11 47337796 splice acceptor variant T/A;C;G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2004 2016
dbSNP: rs111729952
rs111729952
MYBPC3
0.925 0.080 11 47337796 splice acceptor variant T/A;C;G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2004 2011
dbSNP: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 6 1997 2017
dbSNP: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 1997 2010