NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2023β Residue 1178
NM_001206999.2(CIT):c.658C>T (p.Arg220Ter)Pathogenic
not provided|Microcephaly 17, primary, autosomal recessive
β
β
ββ2023β Residue 220
NM_001206999.2(CIT):c.426dup (p.Glu143Ter)Pathogenic
not provided
β
βββ2026β Residue 143
NM_001206999.2(CIT):c.97-2A>TLikely pathogenic
not provided
β
βββ2025
NM_001206999.2(CIT):c.613del (p.Glu204_Leu205insTer)Pathogenic
not provided
β
βββ2025β Residue 204
NM_001206999.2(CIT):c.142C>T (p.Arg48Ter)Pathogenic
Microcephaly 17, primary, autosomal recessive
β
βββ2025β Residue 48
NM_001206999.2(CIT):c.29_38del (p.Asn10fs)Likely pathogenic
Autosomal recessive primary microcephaly|Microcephaly 17, primary, autosomal recessive
β
βββ2024β Residue 10
NM_001206999.2(CIT):c.958-1G>ALikely pathogenic
not provided
β
βββ2024
NM_001206999.2(CIT):c.1111+1G>APathogenic
Autosomal recessive primary microcephaly|Microcephaly 17, primary, autosomal recessive
β
βββ2024
NM_001206999.2(CIT):c.517-1G>CLikely pathogenic
not provided
β
βββ2024
NM_001206999.2(CIT):c.1189del (p.Val397fs)Pathogenic
not provided
β
βββ2023β Residue 397
NM_001206999.2(CIT):c.1220C>G (p.Ser407Ter)Pathogenic
not provided
β
βββ2023β Residue 407
NM_001206999.2(CIT):c.957+1G>TPathogenic
Microcephaly 17, primary, autosomal recessive
β
βββ2022
NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)Pathogenic
Inborn genetic diseases
β
βββ2020β Residue 1839
NM_001206999.2(CIT):c.1070A>G (p.His357Arg)Likely pathogenic
not provided
β
βββ2019β Residue 357
NM_001206999.2(CIT):c.1122dup (p.Phe375fs)Likely pathogenic
not provided
β
βββ2017β Residue 375
NM_001206999.2(CIT):c.4617del (p.Asp1541fs)Pathogenic
Microcephaly 17, primary, autosomal recessive
β
ββββ Residue 1541
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp)Likely pathogenic
Microcephaly 17, primary, autosomal recessive
β
ββββ Residue 123
NM_001206999.2(CIT):c.1555C>T (p.Arg519Ter)Likely pathogenic
Microcephaly 17, primary, autosomal recessive
β
ββββ Residue 519
NM_001206999.2(CIT):c.753+3A>TPathogenic
Microcephaly 17, primary, autosomal recessive
ββββ2022