NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)Pathogenic
not provided|Macrocephaly, acquired, with impaired intellectual development
β
β
ββ2026β Residue 39
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)Pathogenic
Macrocephaly;Intellectual disability|Macrocephaly, acquired, with impaired intellectual development|Macrocephaly|not provided
β
β
ββ2025β Residue 89
NM_001190737.2(NFIB):c.901C>T (p.Arg301Ter)Pathogenic
Macrocephaly, acquired, with impaired intellectual development|not provided
β
β
ββ2025β Residue 301
NM_001190737.2(NFIB):c.367C>T (p.Gln123Ter)Likely pathogenic
not provided|Macrocephaly, acquired, with impaired intellectual development
β
β
ββ2024β Residue 123
NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter)Pathogenic
Intellectual disability;Macrocephaly|Macrocephaly, acquired, with impaired intellectual development|not provided
β
β
ββ2023β Residue 37
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)Pathogenic
Macrocephaly;Intellectual disability|Macrocephaly, acquired, with impaired intellectual development|Marfanoid habitus and intellectual disability|not provided
β
β
ββ2023β Residue 126
NM_001190737.2(NFIB):c.142C>T (p.Arg48Ter)Pathogenic
Macrocephaly, acquired, with impaired intellectual development|not provided
β
β
ββ2022β Residue 48
NM_001190737.2(NFIB):c.373_376del (p.Asp125fs)Pathogenic
Macrocephaly, acquired, with impaired intellectual development|Inborn genetic diseases
β
β
ββ2021β Residue 125
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro)Pathogenic
Macrocephaly;Intellectual disability|Macrocephaly, acquired, with impaired intellectual development
β
β
ββ2019β Residue 132
NM_001190737.2(NFIB):c.844G>T (p.Glu282Ter)Pathogenic
not provided
β
βββ2024β Residue 282
NM_001190737.2(NFIB):c.1331G>A (p.Arg444Gln)Likely pathogenic
not provided
β
βββ2024β Residue 444
NM_001190737.2(NFIB):c.816del (p.Thr274fs)Pathogenic
Macrocephaly, acquired, with impaired intellectual development
β
βββ2024β Residue 274
NM_001190737.2(NFIB):c.377_378del (p.Lys126fs)Likely pathogenic
not provided
β
βββ2024β Residue 126
NM_001190737.2(NFIB):c.1465C>T (p.Gln489Ter)Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
β
βββ2024β Residue 489
NM_001190737.2(NFIB):c.1067C>G (p.Ser356Ter)Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
β
βββ2024β Residue 356
NM_001190737.2(NFIB):c.1061-1G>CLikely pathogenic
Inborn genetic diseases
β
βββ2024
NM_001190737.2(NFIB):c.330C>A (p.Asp110Glu)Likely pathogenic
not provided
β
βββ2023β Residue 110
NM_001190737.2(NFIB):c.26dup (p.Gln10fs)Pathogenic
Macrocephaly, acquired, with impaired intellectual development
β
βββ2023β Residue 10
NM_001190737.2(NFIB):c.364C>T (p.Arg122Ter)Pathogenic
not provided
β
βββ2023β Residue 122
NM_001190737.2(NFIB):c.577G>T (p.Gly193Ter)Likely pathogenic
not provided
β
βββ2023β Residue 193