NM_018489.3(ASH1L):c.4039_4043del (p.Lys1347fs)Pathogenic
Intellectual disability, autosomal dominant 52
β
β
ββ2025β Residue 1347
NM_018489.3(ASH1L):c.6178-2A>GPathogenic
Intellectual disability, autosomal dominant 52
β
β
ββ2025
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)Pathogenic
Intellectual disability, autosomal dominant 52|Inborn genetic diseases
β
β
ββ2025β Residue 1280
NM_018489.3(ASH1L):c.2905_2908del (p.Lys969fs)Pathogenic
Intellectual disability|not provided
β
β
ββ2025β Residue 969
NM_018489.3(ASH1L):c.2332C>T (p.Arg778Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 52
β
β
ββ2024β Residue 778
NM_018489.3(ASH1L):c.8500C>T (p.Arg2834Ter)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2024β Residue 2834
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 52
β
β
ββ2024β Residue 1551
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)Pathogenic
ASH1L-related disorder|not provided|Intellectual disability, autosomal dominant 52
β
β
ββ2023β Residue 1635
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)Likely pathogenic
Intellectual disability, autosomal dominant 52
β
β
ββ2023β Residue 1757
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 52|Inborn genetic diseases
β
β
ββ2023β Residue 2535
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 52
β
β
ββ2023β Residue 712
NM_018489.3(ASH1L):c.5129_5151del (p.Gly1710fs)Likely pathogenic
Intellectual disability, autosomal dominant 52
β
βββ2025β Residue 1710
NM_018489.3(ASH1L):c.2197_2198insCTTT (p.Gly733fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 733
NM_018489.3(ASH1L):c.3576_3577del (p.His1192fs)Pathogenic
Intellectual disability, autosomal dominant 52
β
βββ2025β Residue 1192
NM_018489.3(ASH1L):c.8707C>T (p.Gln2903Ter)Likely pathogenic
Intellectual disability, autosomal dominant 52
β
βββ2025β Residue 2903
NM_018489.3(ASH1L):c.6267del (p.Thr2090fs)Pathogenic
Intellectual disability, autosomal dominant 52
β
βββ2025β Residue 2090
NM_018489.3(ASH1L):c.6223+2T>GPathogenic
not provided
β
βββ2025
NM_018489.3(ASH1L):c.6103+2T>CPathogenic
Intellectual disability, autosomal dominant 52
β
βββ2025
NM_018489.3(ASH1L):c.3828del (p.Gln1278fs)Pathogenic
Intellectual disability, autosomal dominant 52
β
βββ2025β Residue 1278
NM_018489.3(ASH1L):c.3136del (p.Tyr1046fs)Pathogenic
not provided
β
βββ2025β Residue 1046