NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)Pathogenic
Autosomal recessive primary microcephaly|not provided
β
β
ββ2026β Residue 233
NM_024596.5(MCPH1):c.321dup (p.Arg108fs)Pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2025β Residue 108
NM_024596.5(MCPH1):c.321+2T>CLikely pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2024
NM_024596.5(MCPH1):c.571del (p.Ser191fs)Pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2024β Residue 191
NM_024596.5(MCPH1):c.733G>T (p.Gly245Ter)Pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2024β Residue 245
NM_024596.5(MCPH1):c.826_829del (p.Ser276fs)Pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2024β Residue 276
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu)Pathogenic
Microcephaly 1, primary, autosomal recessive|See cases|Autosomal recessive primary microcephaly
β
β
ββ2024β Residue 72
NM_024596.5(MCPH1):c.321del (p.Lys107fs)Pathogenic
Abnormality of the nervous system|not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2024β Residue 107
NM_024596.5(MCPH1):c.76_77del (p.Lys26fs)Pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2024β Residue 26
NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter)Pathogenic
not provided|Autosomal recessive primary microcephaly
β
β
ββ2024β Residue 199
NM_024596.5(MCPH1):c.566dup (p.Asn189fs)Pathogenic
Microcephaly 1, primary, autosomal recessive|not provided
β
β
ββ2024β Residue 189
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)Pathogenic
Microcephaly 1, primary, autosomal recessive|Autosomal recessive primary microcephaly|not provided
β
β
ββ2024β Residue 623
NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter)Pathogenic
not provided
β
β
ββ2023β Residue 105
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)Likely pathogenic
Microcephaly 1, primary, autosomal recessive|Autosomal recessive primary microcephaly
β
β
ββ2019β Residue 642
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter)Pathogenic
not provided|Microcephaly 1, primary, autosomal recessive
β
β
ββ2018β Residue 542
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)Pathogenic
Microcephaly 1, primary, autosomal recessive|Abnormal brain morphology
β
β
ββ2016β Residue 143
NM_024596.5(MCPH1):c.322-1G>CLikely pathogenic
Microcephaly 1, primary, autosomal recessive|not provided|Acute myeloid leukemia
β
βββ2026
NM_024596.5(MCPH1):c.786_789del (p.Cys263fs)Pathogenic
not provided
β
βββ2025β Residue 263
NM_024596.5(MCPH1):c.857C>G (p.Ser286Ter)Pathogenic
not provided
β
βββ2025β Residue 286
NM_024596.5(MCPH1):c.2453-1G>ALikely pathogenic
Microcephaly 1, primary, autosomal recessive
β
βββ2025