ClinVar Miner

List of variants reported as pathogenic for Roussy-Levy syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):

Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease
Roussy-Lévy syndrome

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Total variants: 2

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HGVS	dbSNP
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603

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