Source: CURATED

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: rs58982919
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.700 1.000 8 2002 2016
dbSNP: rs58982919
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 1.000 4 2004 2016
dbSNP: rs58982919
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 1.000 2 2003 2004
dbSNP: rs58982919
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
Charcot-Marie-Tooth disease, Type 1C 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.810 1.000 0 2011 2011
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		0.700 0
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.882 0.080 8 24953779 missense variant C/T snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.810 1.000 15 2000 2016
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.882 0.080 8 24953779 missense variant C/T snv
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 1.000 4 2004 2016
dbSNP: rs58332872
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 0
dbSNP: rs60261494
rs60261494
NEFL
0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.800 0
dbSNP: rs60261494
rs60261494
NEFL
0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.700 0
dbSNP: rs60261494
rs60261494
NEFL
0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.800 0
dbSNP: rs59443585
rs59443585
NEFL ; MIR6841
0.925 0.080 8 24955521 missense variant T/G snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.800 1.000 7 2000 2015
dbSNP: rs61491953
rs61491953
NEFL
0.925 0.080 8 24956493 missense variant G/A;C;T snv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 1.000 2 2003 2004
dbSNP: rs267607538
rs267607538
NEFL
0.925 0.120 8 24956451 missense variant G/C;T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.710 1.000 0 2008 2008
dbSNP: rs281865140
rs281865140
NEFL ; MIR6841
0.925 0.080 8 24955515 missense variant T/C;G snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 0
dbSNP: rs59101996
rs59101996
NEFL
0.925 0.080 8 24956070 missense variant G/A snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 0