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: rs1060505018
rs1060505018
MYH7
1.000 0.080 14 23424817 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1555336467
rs1555336467
MYH7 ; MHRT
1.000 0.080 14 23416211 inframe deletion CTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516098
rs397516098
MYH7
0.882 0.080 14 23429044 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516142
rs397516142
MYH7
1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516166
rs397516166
MYH7
0.925 0.080 14 23424085 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516207
rs397516207
MYH7 ; MIR208B ; MHRT
0.925 0.080 14 23417597 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880160
rs730880160
MYH7
1.000 0.080 14 23427846 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880161
rs730880161
MYH7
1.000 0.080 14 23424044 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880159
rs730880159
MYH7
0.925 0.080 14 23429031 missense variant T/A;C;G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2011 2011
dbSNP: rs730880759
rs730880759
MYH7
0.925 0.080 14 23424068 stop gained C/A;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs730880855
rs730880855
MYH7
0.925 0.080 14 23431425 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2004 2004
dbSNP: rs869025477
rs869025477
MYH7
1.000 0.080 14 23429308 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2013 2013
dbSNP: rs1131691685
rs1131691685
MYH7
1.000 0.080 14 23427672 missense variant G/A;C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017
dbSNP: rs121913633
rs121913633
MYH7
0.882 0.080 14 23431447 missense variant C/T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017
dbSNP: rs1555337794
rs1555337794
MYH7
1.000 0.080 14 23425294 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017
dbSNP: rs397516101
rs397516101
MYH7
0.882 0.080 14 23429004 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 1996 2011
dbSNP: rs397516220
rs397516220
MYH7 ; MHRT
0.925 0.160 14 23416988 splice acceptor variant CTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2015
dbSNP: rs727504236
rs727504236
MYH7
0.882 0.080 14 23428642 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017
dbSNP: rs727504283
rs727504283
MYH7
0.925 0.080 14 23431804 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017
dbSNP: rs730880781
rs730880781
MYH7 ; MIR208B
1.000 0.080 14 23419949 missense variant C/G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2013 2014
dbSNP: rs730880883
rs730880883
MYH7
1.000 0.080 14 23426809 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2014 2017
dbSNP: rs1057517773
rs1057517773
MYH7
1.000 0.080 14 23431641 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2016 2017
dbSNP: rs1060501443
rs1060501443
MYH7
1.000 0.080 14 23427855 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017
dbSNP: rs1224554825
rs1224554825
MYH7
1.000 0.080 14 23425991 missense variant C/A;T snv 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017
dbSNP: rs1566537070
rs1566537070
MYH7
1.000 0.080 14 23431473 missense variant G/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017