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: 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: 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: 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
dbSNP: rs119103262
rs119103262
MFN2
1.000 0.080 1 11997315 missense variant C/G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 6 2006 2016
dbSNP: rs1557525153
rs1557525153
MFN2
1.000 0.080 1 11999031 missense variant C/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 4 2004 2013
dbSNP: rs1553144086
rs1553144086
MFN2
1.000 0.080 1 12002104 splice donor variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2006 2016
dbSNP: rs1557522794
rs1557522794
MFN2
1.000 0.080 1 11997295 splice acceptor 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 3 2006 2016
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: rs1553143890
rs1553143890
MFN2
1.000 0.080 1 12001555 splice donor variant G/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2006 2016
dbSNP: rs794729198
rs794729198
MFN2
1.000 0.080 1 11999025 missense variant C/T snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 1.000 2 2011 2016
dbSNP: rs1060501915
rs1060501915
MFN2
1.000 0.080 1 11998842 frameshift variant TGGTGGC/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2011 2011
dbSNP: rs1557524703
rs1557524703
MFN2
1.000 0.080 1 11998808 missense variant T/C snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2005 2005
dbSNP: rs763492075
rs763492075
MFN2
1.000 0.080 1 12007126 missense variant G/A;C;T snv 2.0E-05
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 1.000 1 2015 2015
dbSNP: rs879253861
rs879253861
MFN2
1.000 0.080 1 11997301 missense variant T/G snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 1.000 1 2015 2015
dbSNP: rs879253862
rs879253862
MFN2
1.000 0.080 1 11997348 missense variant G/A snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 1.000 1 2015 2015
dbSNP: rs879253925
rs879253925
MFN2
1.000 0.080 1 11998823 missense variant T/C snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 1.000 1 2013 2013
dbSNP: rs1057517987
rs1057517987
MFN2
1.000 0.080 1 12004083 stop gained C/T snv
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 0
dbSNP: rs1060501917
rs1060501917
MFN2
1.000 0.080 1 12011512 missense variant T/G snv 4.0E-06 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1060501925
rs1060501925
MFN2
1.000 0.080 1 12011511 missense variant G/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1064793170
rs1064793170
MFN2
1.000 0.080 1 12002025 missense variant A/C;G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 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