NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|Primary microcephaly type 2|not provided|Autosomal recessive primary microcephaly
β
β
ββ2026β Residue 511
NM_001083961.2(WDR62):c.1234-1G>APathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2025
NM_001083961.2(WDR62):c.177+1G>CPathogenic
not provided
β
β
ββ2025
NM_001083961.2(WDR62):c.3514+1G>APathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β
β
ββ2025
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser)Likely pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β
β
ββ2025β Residue 862
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter)Pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2025β Residue 647
NM_001083961.2(WDR62):c.1534C>T (p.Arg512Ter)Pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2025β Residue 512
NM_001083961.2(WDR62):c.2864_2867del (p.Asp955fs)Pathogenic
not provided|WDR62-related disorder
β
β
ββ2024β Residue 955
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)Pathogenic
not provided
β
β
ββ2024β Residue 799
NM_001083961.2(WDR62):c.3462+1G>APathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2024
NM_001083961.2(WDR62):c.2333+2T>CLikely pathogenic
not provided
β
β
ββ2024
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)Pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2024β Residue 1244
NM_001083961.2(WDR62):c.3304C>T (p.Gln1102Ter)Pathogenic
not provided
β
β
ββ2024β Residue 1102
NM_001083961.2(WDR62):c.269+1G>TLikely pathogenic
Autosomal recessive primary microcephaly|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2024
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β
β
ββ2024β Residue 438
NM_001083961.2(WDR62):c.2086del (p.Ser696fs)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β
β
ββ2023β Residue 696
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2023β Residue 1108
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β
β
ββ2023β Residue 918
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)Likely pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β
β
ββ2021β Residue 1412
NM_001083961.2(WDR62):c.2520+5G>TPathogenic
not provided|Intellectual disability
β
β
ββ2020