NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 5|Leukoencephalopathy with vanishing white matter 1
β
β
ββ2026β Residue 195
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His)Pathogenic
Vanishing white matter disease|not provided|EIF2B5-related disorder
β
β
ββ2026β Residue 136
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5
β
β
ββ2026β Residue 403
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5
β
β
ββ2026β Residue 305
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)Pathogenic
Vanishing white matter disease|not provided|See cases|Leukoencephalopathy with vanishing white matter 5|Inborn genetic diseases|EIF2B5-related disorder
β
β
ββ2025β Residue 113
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5|Inborn genetic diseases
β
β
ββ2025β Residue 339
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro)Pathogenic
Vanishing white matter disease|not provided
β
β
ββ2025β Residue 339
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 1|Hereditary breast ovarian cancer syndrome|Leukoencephalopathy with vanishing white matter 5
β
β
ββ2025β Residue 269
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 1
β
β
ββ2025β Residue 299
NM_003907.3(EIF2B5):c.1813del (p.Leu605fs)Pathogenic
not provided|Leukoencephalopathy with vanishing white matter 5|Vanishing white matter disease
β
β
ββ2025β Residue 605
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)Pathogenic
Vanishing white matter disease|Inborn genetic diseases|not provided|Leukoencephalopathy with vanishing white matter 1|Leukoencephalopathy with vanishing white matter 5|EIF2B5-related disorder
β
β
ββ2025β Residue 106
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5
β
β
ββ2025β Residue 649
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu)Pathogenic
Vanishing white matter disease|not provided
β
β
ββ2025β Residue 447
NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)Pathogenic
Vanishing white matter disease|not provided|Leukodystrophy
β
β
ββ2025β Residue 315
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 5
β
β
ββ2025β Residue 315
NM_003907.3(EIF2B5):c.799C>T (p.Gln267Ter)Pathogenic
not provided|Vanishing white matter disease
β
β
ββ2025β Residue 267
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)Pathogenic
not provided|Vanishing white matter disease
β
β
ββ2025β Residue 339
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 5
β
β
ββ2025β Residue 91
NM_003907.3(EIF2B5):c.1289T>C (p.Val430Ala)Pathogenic
not provided|Vanishing white matter disease
β
β
ββ2025β Residue 430
NM_003907.3(EIF2B5):c.915G>A (p.Met305Ile)Pathogenic
not provided|Vanishing white matter disease
β
β
ββ2025β Residue 305