NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)Pathogenic
Cafe-au-lait spot;Juvenile myelomonocytic leukemia|Bohring-Opitz syndrome|not provided
β
β
ββ2025β Residue 635
NM_015338.6(ASXL1):c.1773C>A (p.Tyr591Ter)Pathogenic
not provided
β
β
ββ2025β Residue 591
NM_015338.6(ASXL1):c.1282C>T (p.Gln428Ter)Pathogenic
not provided|Bohring-Opitz syndrome
β
β
ββ2025β Residue 428
NM_015338.6(ASXL1):c.1926del (p.Gly645fs)Likely pathogenic
Bohring-Opitz syndrome|not provided
β
β
ββ2025β Residue 645
NM_015338.6(ASXL1):c.2966_2967del (p.Asp988_Ser989insTer)Pathogenic
not provided|Bohring-Opitz syndrome
β
β
ββ2025β Residue 988
NM_015338.6(ASXL1):c.472-2A>GPathogenic
Bohring-Opitz syndrome
β
β
ββ2025
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)Pathogenic
not provided|Bohring-Opitz syndrome|Abnormal brain morphology|ASXL1-related disorder|Neoplasm|Ependymoma|Diffuse midline glioma, H3 K27M-mutant
β
β
ββ2025β Residue 646
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)Pathogenic
not provided|Inborn genetic diseases|Bohring-Opitz syndrome|Neoplasm
β
β
ββ2025β Residue 515
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)Pathogenic
Bohring-Opitz syndrome
β
β
ββ2024β Residue 1234
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs)Pathogenic
not provided|ASXL1-related disorder
β
β
ββ2024β Residue 1213
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)Pathogenic
Bohring-Opitz syndrome|not provided
β
β
ββ2024β Residue 965
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)Pathogenic
Bohring-Opitz syndrome|10 conditions|dystrophia;Developmental delay|not provided|Myelodysplastic syndrome
β
β
ββ2024β Residue 404
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)Pathogenic
not provided|Bohring-Opitz syndrome|Myelodysplastic syndrome
β
β
ββ2024β Residue 693
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter)Pathogenic
not provided|Inborn genetic diseases|Rubinstein Taybi like syndrome
β
β
ββ2023β Residue 1415
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)Pathogenic
Inborn genetic diseases|not provided|Myelodysplastic syndrome;Bohring-Opitz syndrome
β
β
ββ2023β Residue 1377
NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter)Pathogenic
not provided
β
β
ββ2023β Residue 143
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)Pathogenic
Bohring-Opitz syndrome|not provided
β
β
ββ2022β Residue 1068
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)Pathogenic
not provided|Bohring-Opitz syndrome
β
β
ββ2020β Residue 623
NM_015338.6(ASXL1):c.1720-1G>APathogenic
Bohring-Opitz syndrome
β
β
ββ2019
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)Pathogenic
not provided|Bohring-Opitz syndrome
β
β
ββ2016β Residue 388