NM_000268.4(NF2):c.1447-1G>APathogenic
Neurofibromatosis, type 2
β
β
ββ2026
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)Pathogenic
Neurofibromatosis, type 2|not provided|Hereditary cancer-predisposing syndrome|Familial meningioma;Neurofibromatosis, type 2
β
β
ββ2025β Residue 196
NM_000268.4(NF2):c.810+1G>APathogenic
not provided|Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_000268.4(NF2):c.240+1G>TPathogenic
Neurofibromatosis, type 2|Acoustic neuroma|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)Pathogenic
Neurofibromatosis, type 2|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 466
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)Pathogenic
Neurofibromatosis, type 2|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 517
NM_000268.4(NF2):c.600-2A>GPathogenic
Neurofibromatosis, type 2|not provided
β
β
ββ2025
NM_000268.4(NF2):c.774G>A (p.Trp258Ter)Pathogenic
Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 258
NM_000268.4(NF2):c.784C>T (p.Arg262Ter)Pathogenic
Neurofibromatosis, type 2|not provided|Meningioma
β
β
ββ2025β Residue 262
NM_000268.4(NF2):c.364-2A>GLikely pathogenic
Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_000268.4(NF2):c.41_42del (p.Leu14fs)Pathogenic
not provided|Neurofibromatosis, type 2
β
β
ββ2025β Residue 14
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)Pathogenic
Meningioma|not provided|Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 57
NM_000268.4(NF2):c.1229dup (p.Arg411fs)Pathogenic
Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 411
NM_000268.4(NF2):c.240+1G>CPathogenic
Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_000268.4(NF2):c.1219C>T (p.Gln407Ter)Pathogenic
Neurofibromatosis, type 2|not provided
β
β
ββ2025β Residue 407
NM_000268.4(NF2):c.516+1G>APathogenic
Neurofibromatosis, type 2|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)Pathogenic
Neurofibromatosis, type 2|Meningioma
β
β
ββ2025β Residue 65
NM_000268.4(NF2):c.592C>T (p.Arg198Ter)Pathogenic
Neurofibromatosis, type 2|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 198
NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)Pathogenic
Neurofibromatosis, type 2
β
β
ββ2025β Residue 527
NM_000268.4(NF2):c.1737+2T>CPathogenic
Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025