Gene Mutations
 
Records Return:  (4) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
EIF2B260645460389614q246-BP DEL/2-BP INS, NT6070005OVARIOLEUKODYSTROPHY1
EIF2B260645460389614q24GLU213GLY0001LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER2
EIF2B260645460389614q24GLU304TER LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER2
EIF2B260645460389614q24SER171PHE0004OVARIOLEUKODYSTROPHY1