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: rs119103265
rs119103265
MFN2
0.827 0.120 1 12002033 missense variant C/T snv
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 1.000 0 2006 2011
dbSNP: rs119103267
rs119103267
MFN2
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 1.000 12 2008 2019
dbSNP: rs387906991
rs387906991
MFN2
1.000 0.080 1 12002028 missense variant C/G;T snv 3.2E-05
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 1.000 3 2006 2016
dbSNP: rs28940292
rs28940292
MFN2
0.851 0.080 1 12011510 missense variant G/C snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 1.000 2 2004 2015
dbSNP: rs119103267
rs119103267
MFN2
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 1.000 1 2015 2015
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 0
dbSNP: rs119103264
rs119103264
MFN2
1.000 0.080 1 12001411 missense variant A/G snv
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 0
dbSNP: rs119103266
rs119103266
MFN2
1.000 0.080 1 11998787 missense variant C/T snv
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 0
dbSNP: rs28940294
rs28940294
MFN2
0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 1.000 0 2004 2011
dbSNP: rs387906990
rs387906990
MFN2
0.925 0.080 1 11998817 missense variant T/C snv 4.0E-06 4.2E-05
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 1.000 0 2008 2016
dbSNP: rs119103268
rs119103268
MFN2
0.827 0.080 1 11992689 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 4 2008 2014
dbSNP: rs879253777
rs879253777
MFN2
0.925 0.080 1 11999009 missense variant G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.710 1.000 4 2005 2016
dbSNP: rs879254011
rs879254011
MFN2
1.000 0.080 1 12002034 missense variant G/A;C snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 15 2006 2017
dbSNP: rs863224069
rs863224069
MFN2
1.000 0.080 1 11996158 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 12 2004 2016
dbSNP: rs119103268
rs119103268
MFN2
0.827 0.080 1 11992689 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 11 2008 2015
dbSNP: rs28940291
rs28940291
MFN2
0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 11 2004 2014
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 10 2004 2016
dbSNP: rs119103265
rs119103265
MFN2
0.827 0.120 1 12002033 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 10 2006 2017
dbSNP: rs119103267
rs119103267
MFN2
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 1976 2017
dbSNP: rs755065651
rs755065651
MFN2
1.000 0.080 1 11999055 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 2009 2016
dbSNP: rs863224967
rs863224967
MFN2
1.000 0.080 1 12002069 missense variant A/G;T snv 4.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 2006 2017
dbSNP: rs1553142428
rs1553142428
MFN2
1.000 0.080 1 11996157 missense variant A/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2004 2014
dbSNP: rs863224970
rs863224970
MFN2
1.000 0.080 1 11997316 missense variant A/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2005 2016
dbSNP: rs28940293
rs28940293
MFN2
0.882 0.080 1 11992606 missense variant T/C;G snv 8.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 1997 2014
dbSNP: rs587777875
rs587777875
MFN2
1.000 0.080 1 11999054 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2009 2015