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: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 8 1998 2017
dbSNP: rs267607495
rs267607495
DES
2 219418497 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 1 2011 2011
dbSNP: rs267607495
rs267607495
DES
2 219418497 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2011 2011
dbSNP: rs1060503165
rs1060503165
DES
1.000 0.160 2 219418856 stop gained C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs1559352440
rs1559352440
DES
1.000 0.160 2 219418976 stop gained C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 0
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs41272699
rs41272699
DES
0.925 0.160 2 219420154 missense variant C/T snv 9.2E-03 1.0E-02
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs60798368
rs60798368
DES
0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs1114167332
rs1114167332
DES
1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs60538473
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs60538473
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs727504448
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2000 2012
dbSNP: rs727504448
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 5 2000 2012