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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs587782965
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs104894369
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516408
rs397516408
MYL2
0.925 0.080 12 110919117 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880944
rs730880944
MYL2
1.000 0.080 12 110919144 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs794729138
rs794729138
PLN ; CEP85L
1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs193922649
rs193922649
LAMP2
0.925 0.160 X 120449063 frameshift variant T/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121434594
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2007 2007
dbSNP: rs869025501
rs869025501
RAF1
1.000 0.080 3 12604191 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2007 2007
dbSNP: rs727505017
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1554401561
rs1554401561
FLNC ; FLNC-AS1
1.000 0.080 7 128855243 missense variant G/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs869025431
rs869025431
FHL1
0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs199472948
rs199472948
KCNH2
1.000 0.080 7 150951531 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs267606977
rs267606977
PRKAG2
0.851 0.120 7 151560613 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs56851164
rs56851164
LMNA
1.000 0.080 1 156135940 missense variant T/A snv 5.6E-05 8.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2006 2014
dbSNP: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs727504247
rs727504247
TNNT2
0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121964857
rs121964857
TNNT2
0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516482
rs397516482
TNNT2
1.000 0.080 1 201361286 missense variant T/A snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730881115
rs730881115
TNNT2
1.000 0.080 1 201364336 frameshift variant G/- delins 9.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs727504331
rs727504331
TNNT2
0.925 0.080 1 201365242 missense variant A/C snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs727504245
rs727504245
TNNT2
0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 0 1997 1997