MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517987
rs1057517987 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060501917
rs1060501917 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060501925
rs1060501925 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1064793170
rs1064793170 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119103261
rs119103261 		0.882 0.080 1 12002014 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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119103261
rs119103261 		0.882 0.080 1 12002014 missense variant G/C snv
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		0.700 0
dbSNP: rs119103261
rs119103261 		0.882 0.080 1 12002014 missense variant G/C snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0008767
Disease: Cicatrization
Cicatrization 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs119103263
rs119103263 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs119103264
rs119103264 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs119103265
rs119103265 		0.827 0.120 1 12002033 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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0