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: rs104894503
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 1.000 18 1994 2019
dbSNP: rs104894501
rs104894501
TPM1
0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		0.800 1.000 0 2001 2001
dbSNP: rs104894502
rs104894502
TPM1
0.807 0.120 15 63060915 missense variant A/G;T snv
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.800 1.000 0 1994 2017
dbSNP: rs104894503
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.800 1.000 0 1994 2017
dbSNP: rs104894505
rs104894505
TPM1
0.882 0.040 15 63044072 missense variant G/A snv
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		0.800 1.000 0 2001 2001
dbSNP: rs104894503
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.740 1.000 12 1994 2015
dbSNP: rs104894504
rs104894504
TPM1
0.925 0.080 15 63057028 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 4 2001 2011
dbSNP: rs199476305
rs199476305
TPM1
1.000 0.040 15 63044096 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 0 2005 2005
dbSNP: rs199476306
rs199476306
TPM1
0.882 0.080 15 63044100 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 0 1996 1996
dbSNP: rs199476315
rs199476315
TPM1
0.827 0.080 15 63061723 missense variant G/A snv
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.700 1.000 17 2003 2017
dbSNP: rs199476315
rs199476315
TPM1
0.827 0.080 15 63061723 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 10 2003 2016
dbSNP: rs199476315
rs199476315
TPM1
0.827 0.080 15 63061723 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 9 2003 2016
dbSNP: rs199476321
rs199476321
TPM1
0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2017
dbSNP: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2010 2017
dbSNP: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		0.700 1.000 7 2010 2017
dbSNP: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.700 1.000 7 2010 2017
dbSNP: rs199476316
rs199476316
TPM1
0.925 0.080 15 63062219 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2008 2016
dbSNP: rs397516373
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 5 2016 2018
dbSNP: rs397516373
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017
dbSNP: rs397516376
rs397516376
TPM1
1.000 0.040 15 63060924 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2015 2017
dbSNP: rs199476310
rs199476310
TPM1
15 63057019 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2010 2011
dbSNP: rs1114167355
rs1114167355
TPM1
1.000 0.080 15 63059576 missense variant A/G snv
CUI: C0344975
Disease: Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Atresia with Intact Ventricular Septum 		0.700 1.000 1 2017 2017
dbSNP: rs1114167356
rs1114167356
TPM1
1.000 0.080 15 63062261 missense variant C/T snv
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		0.700 1.000 1 2017 2017
dbSNP: rs1114167357
rs1114167357
TPM1
1.000 0.080 15 63042945 splice donor variant T/C snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 1 2017 2017
dbSNP: rs199476311
rs199476311
TPM1
15 63059667 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2010 2010