Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 CausalMutation CLINVAR Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006

dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 CausalMutation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246

2006

dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004

dbSNP: rs119103263
rs119103263
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. 26467025

2016

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. 24862862

2015

dbSNP: rs119103263
rs119103263
Distal limb muscle weakness due to peripheral neuropathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0002170
Disease: Alopecia
Alopecia
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0241054
Disease: Skin bullae
Skin bullae
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0008767
Disease: Cicatrization
Cicatrization
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2015

dbSNP: rs119103263
rs119103263
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0424688
Disease: Small head
Small head
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C1850535
Disease: Absence of scalp hair
Absence of scalp hair
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. 24126688

2014