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: rs121909091
rs121909091
DNM2
0.851 0.120 19 10798543 missense variant C/T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.800 1.000 4 2005 2016
dbSNP: rs587783595
rs587783595
DNM2
0.882 0.120 19 10812271 missense variant G/A;T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.800 1.000 2 2005 2012
dbSNP: rs121909088
rs121909088
DNM2
0.925 0.080 19 10819992 missense variant A/G snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.800 1.000 0 2005 2009
dbSNP: rs121909089
rs121909089
DNM2
0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.800 1.000 0 2005 2012
dbSNP: rs121909090
rs121909090
DNM2
0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.800 1.000 0 2005 2012
dbSNP: rs121909092
rs121909092
DNM2
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.800 1.000 0 2005 2012
dbSNP: rs121909093
rs121909093
DNM2
0.925 0.080 19 10812315 missense variant G/A;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.800 1.000 0 2007 2008
dbSNP: rs121909095
rs121909095
DNM2
0.882 0.120 19 10823862 missense variant C/G;T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.800 1.000 0 2005 2012
dbSNP: rs267606772
rs267606772
DNM2
0.925 0.080 19 10793799 missense variant G/A snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.800 1.000 0 2007 2008
dbSNP: rs397514735
rs397514735
DNM2
0.925 0.080 19 10795378 missense variant T/G snv
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.800 1.000 0 2013 2013
dbSNP: rs121909091
rs121909091
DNM2
0.851 0.120 19 10798543 missense variant C/T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.720 1.000 0 2016 2018
dbSNP: rs121909089
rs121909089
DNM2
0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.710 1.000 0 2016 2016
dbSNP: rs121909090
rs121909090
DNM2
0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.710 1.000 0 2014 2014
dbSNP: rs587783595
rs587783595
DNM2
0.882 0.120 19 10812271 missense variant G/A;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.710 1.000 0 2016 2016
dbSNP: rs121909092
rs121909092
DNM2
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 18 2005 2015
dbSNP: rs121909090
rs121909090
DNM2
0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 8 2005 2017
dbSNP: rs121909095
rs121909095
DNM2
0.882 0.120 19 10823862 missense variant C/G;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 8 2007 2015
dbSNP: rs587783595
rs587783595
DNM2
0.882 0.120 19 10812271 missense variant G/A;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 8 2010 2016
dbSNP: rs121909089
rs121909089
DNM2
0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 7 2005 2017
dbSNP: rs121909091
rs121909091
DNM2
0.851 0.120 19 10798543 missense variant C/T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 6 2005 2016
dbSNP: rs1555715869
rs1555715869
DNM2
0.925 0.120 19 10823859 missense variant C/A snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.700 1.000 1 2010 2010
dbSNP: rs199927590
rs199927590
DNM2
1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs121909092
rs121909092
DNM2
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs121909092
rs121909092
DNM2
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.700 0
dbSNP: rs121909093
rs121909093
DNM2
0.925 0.080 19 10812315 missense variant G/A;T snv
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0