NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2026β Residue 203
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)Pathogenic
Vanishing white matter disease|not provided|See cases|Inborn genetic diseases|Leukoencephalopathy with vanishing white matter 2|EIF2B2-related disorder
β
β
ββ2026β Residue 200
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 2|See cases|Leukoencephalopathy with vanishing white matter 1|EIF2B2-related disorder
β
β
ββ2026β Residue 213
NM_014239.4(EIF2B2):c.285-1G>ALikely pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 2|Clear cell carcinoma of kidney
β
β
ββ2026
NM_014239.4(EIF2B2):c.570del (p.Ile190fs)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2025β Residue 190
NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe)Pathogenic
Leukoencephalopathy with vanishing white matter 2|Vanishing white matter disease|not provided
β
β
ββ2025β Residue 171
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)Pathogenic
Premature ovarian insufficiency|not provided|Vanishing white matter disease|Osteogenesis imperfecta|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2025β Residue 273
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)Pathogenic
Abnormality of the nervous system|not provided|Leukoencephalopathy with vanishing white matter 2|Vanishing white matter disease
β
β
ββ2025β Residue 85
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2025β Residue 316
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)Pathogenic
Vanishing white matter disease|not provided|Abnormality of the nervous system|EIF2B2-related disorder|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2024β Residue 308
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)Pathogenic
Leukoencephalopathy with vanishing white matter 2|not provided
β
β
ββ2024β Residue 183
NM_014239.4(EIF2B2):c.3G>T (p.Met1Ile)Pathogenic
not provided|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2024β Residue 1
NM_014239.4(EIF2B2):c.832-2A>GLikely pathogenic
not provided|Leukoencephalopathy with vanishing white matter 2
β
β
ββ2024
NM_014239.4(EIF2B2):c.871C>T (p.Pro291Ser)Pathogenic
Vanishing white matter disease|not provided
β
β
ββ2023β Residue 291
NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter)Pathogenic
Vanishing white matter disease|not provided
β
β
ββ2023β Residue 304
NM_014239.4(EIF2B2):c.677del (p.Met226fs)Pathogenic
not provided
β
βββ2025β Residue 226
NM_014239.4(EIF2B2):c.877dup (p.Glu293fs)Pathogenic
Vanishing white matter disease
β
βββ2024β Residue 293
NM_014239.4(EIF2B2):c.544_545insA (p.Ala182fs)Likely pathogenic
Leukoencephalopathy with vanishing white matter 2
β
βββ2024β Residue 182
NM_014239.4(EIF2B2):c.586C>T (p.Pro196Ser)Likely pathogenic
not provided
β
βββ2023β Residue 196
NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter)Pathogenic
Premature ovarian insufficiency|not provided
β
βββ2023β Residue 172