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: 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: 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: rs104894504
rs104894504
TPM1
0.925 0.080 15 63057028 missense variant T/C snv
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.700 0
dbSNP: rs1555408679
rs1555408679
TPM1
1.000 0.080 15 63059648 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1555409659
rs1555409659
TPM1
1.000 0.040 15 63062214 splice acceptor variant TACTCG/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs199476315
rs199476315
TPM1
0.827 0.080 15 63061723 missense variant G/A snv
CUI: C3808145
Disease: LEFT VENTRICULAR NONCOMPACTION 9
LEFT VENTRICULAR NONCOMPACTION 9 		0.700 0
dbSNP: rs199476316
rs199476316
TPM1
0.925 0.080 15 63062219 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs199476319
rs199476319
TPM1
0.925 0.040 15 63062615 missense variant A/G snv
CUI: C3808145
Disease: LEFT VENTRICULAR NONCOMPACTION 9
LEFT VENTRICULAR NONCOMPACTION 9 		0.700 0
dbSNP: rs397516363
rs397516363
TPM1
15 63044075 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516369
rs397516369
TPM1
1.000 15 63057081 missense variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516369
rs397516369
TPM1
1.000 15 63057081 missense variant C/G snv
CUI: C3808145
Disease: LEFT VENTRICULAR NONCOMPACTION 9
LEFT VENTRICULAR NONCOMPACTION 9 		0.700 0
dbSNP: rs397516371
rs397516371
TPM1
15 63059611 missense variant G/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516372
rs397516372
TPM1
1.000 0.040 15 63059645 missense variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516373
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv
CUI: C3808145
Disease: LEFT VENTRICULAR NONCOMPACTION 9
LEFT VENTRICULAR NONCOMPACTION 9 		0.700 0
dbSNP: rs397516373
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516386
rs397516386
TPM1
15 63062585 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs727504264
rs727504264
TPM1
1.000 0.040 15 63060935 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs727504290
rs727504290
TPM1
1.000 0.040 15 63042875 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs727504389
rs727504389
TPM1
15 63059604 missense variant A/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730881151
rs730881151
TPM1
1.000 0.080 15 63042891 missense variant G/T snv 2.0E-05
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.700 0
dbSNP: rs876657662
rs876657662
TPM1
15 63060872 stop gained G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0