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: rs57496341
rs57496341
DES
1.000 0.160 2 219420943 missense variant T/C;G snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 3 1998 2017
dbSNP: rs57639980
rs57639980
DES
1.000 0.160 2 219421350 missense variant T/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs57955682
rs57955682
DES
1.000 0.160 2 219421470 missense variant T/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs397516695
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs886043080
rs886043080
DES
1.000 0.160 2 219421529 frameshift variant T/- del
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs1553603239
rs1553603239
DES
1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs61130669
rs61130669
DES
0.925 0.160 2 219421511 missense variant G/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 2014 2014
dbSNP: rs121913000
rs121913000
DES
1.000 0.160 2 219421394 missense variant G/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs397516694
rs397516694
DES
1.000 0.080 2 219418842 missense variant G/C snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs58898021
rs58898021
DES
0.925 0.160 2 219421385 missense variant G/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs61726467
rs61726467
DES
0.882 0.160 2 219421553 stop gained G/A;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 1.000 6 2007 2016
dbSNP: rs397516698
rs397516698
DES
1.000 0.160 2 219420347 splice donor variant G/A;C;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 1.000 3 2000 2013
dbSNP: rs61368398
rs61368398
DES
1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 1 2011 2014
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.710 1.000 0 2007 2007
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C4023289
Disease: Transitional atrioventricular canal defect
Transitional atrioventricular canal defect 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 2014 2014
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs57965306
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.820 1.000 5 2005 2019
dbSNP: rs57965306
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.800 0
dbSNP: rs748323823
rs748323823
DES
1.000 0.160 2 219425746 splice donor variant G/A;C snv 3.4E-05
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