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: rs773317399
rs773317399
TCAP
1.000 17 39666015 missense variant C/A;T snv 1.6E-05
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.800 1.000 0 2004 2006
dbSNP: rs104894655
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2000 2000
dbSNP: rs104894655
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs104894655
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.700 0
dbSNP: rs149585781
rs149585781
PNMT ; TCAP
0.925 0.040 17 39666063 missense variant G/A snv 2.1E-04 2.1E-04
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs1555606959
rs1555606959
TCAP
1.000 0.120 17 39665391 frameshift variant -/G delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1555606959
rs1555606959
TCAP
1.000 0.120 17 39665391 frameshift variant -/G delins
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.700 0
dbSNP: rs1555606976
rs1555606976
TCAP
17 39665448 frameshift variant GT/- delins
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1567864804
rs1567864804
TCAP
1.000 0.080 17 39665360 start lost A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516863
rs397516863
PNMT ; TCAP
0.925 0.080 17 39666077 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516863
rs397516863
PNMT ; TCAP
0.925 0.080 17 39666077 missense variant C/A;G;T snv
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs45495192
rs45495192
TCAP
1.000 0.120 17 39665391 stop gained C/A;G;T snv 4.0E-06; 2.7E-04; 1.0E-03
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.700 0
dbSNP: rs778568339
rs778568339
TCAP
0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs778568339
rs778568339
TCAP
0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs786205076
rs786205076
TCAP
1.000 0.120 17 39665467 splice donor variant GG/- delins
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.700 0
dbSNP: rs863224933
rs863224933
TCAP
1.000 0.120 17 39665383 stop gained -/GAGGTGT delins
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.700 0