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: rs797045479
rs797045479
COL6A3
2 237361150 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs398124126
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 2 2005 2009
dbSNP: rs398124126
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 1 2005 2005
dbSNP: rs398124119
rs398124119
COL6A3
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs398124119
rs398124119
COL6A3
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs398124119
rs398124119
COL6A3
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs398124126
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs764193290
rs764193290
COL6A3
0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs764193290
rs764193290
COL6A3
0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs764193290
rs764193290
COL6A3
0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs797044988
rs797044988
COL6A3
0.882 0.160 2 237359390 splice acceptor variant T/G snv
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 0
dbSNP: rs797044988
rs797044988
COL6A3
0.882 0.160 2 237359390 splice acceptor variant T/G snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs797044988
rs797044988
COL6A3
0.882 0.160 2 237359390 splice acceptor variant T/G snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs886043919
rs886043919
COL6A3
0.925 0.160 2 237359361 splice donor variant C/A;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 2007 2013
dbSNP: rs767517186
rs767517186
COL6A3
0.925 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 1 2015 2015
dbSNP: rs878854379
rs878854379
COL6A3
0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs878854379
rs878854379
COL6A3
0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 1 2016 2016
dbSNP: rs886043919
rs886043919
COL6A3
0.925 0.160 2 237359361 splice donor variant C/A;T snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 1 2008 2008
dbSNP: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs767517186
rs767517186
COL6A3
0.925 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs886042883
rs886042883
COL6A3
1.000 0.120 2 237359205 splice donor variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 13 2001 2016
dbSNP: rs397515332
rs397515332
COL6A3
1.000 0.120 2 237361138 missense variant C/G;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 5 1994 2017
dbSNP: rs886043737
rs886043737
COL6A3
1.000 0.120 2 237360158 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 5 1993 2013