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: 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: 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: 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: 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: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs113276889
rs113276889
MYBPC3
1.000 0.040 11 47343146 splice acceptor variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs121909376
rs121909376
MYBPC3
0.925 0.080 11 47335104 missense variant T/C;G snv
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs1265248322
rs1265248322
MYBPC3
1.000 0.040 11 47335874 splice donor variant CA/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1555120300
rs1555120300
MYBPC3
1.000 0.080 11 47332634 frameshift variant G/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1555120937
rs1555120937
MYBPC3
1.000 0.040 11 47335940 frameshift variant -/CGCCACTTGAGGGAGACCGTGGTGTC delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1555121172
rs1555121172
MYBPC3
1.000 0.040 11 47337425 frameshift variant C/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1555121488
rs1555121488
MYBPC3
0.925 0.080 11 47338681 splice acceptor variant T/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1555121488
rs1555121488
MYBPC3
0.925 0.080 11 47338681 splice acceptor variant T/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1555122751
rs1555122751
MYBPC3
1.000 0.040 11 47346243 frameshift variant CTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1555122811
rs1555122811
MYBPC3
1.000 0.040 11 47346622 splice donor variant ACCTC/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1555122928
rs1555122928
MYBPC3
1.000 0.080 11 47347434 frameshift variant C/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0