NM_003590.5(CUL3):c.382C>T (p.Arg128Cys)Pathogenic
not provided|Neurodevelopmental disorder with or without autism or seizures
β
β
ββ2026β Residue 128
NM_003590.5(CUL3):c.493_494del (p.Leu165fs)Pathogenic
not provided|Inborn genetic diseases|Pseudohypoaldosteronism type 2E|Neurodevelopmental disorder with or without autism or seizures
β
β
ββ2026β Residue 165
NM_003590.5(CUL3):c.739C>T (p.Arg247Ter)Pathogenic
not provided|Pseudohypoaldosteronism type 2E;Neurodevelopmental disorder with or without autism or seizures
β
β
ββ2025β Residue 247
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)Pathogenic
not provided|Abnormal cardiovascular system morphology|Neurodevelopmental disorder with or without autism or seizures
β
β
ββ2025β Residue 517
NM_003590.5(CUL3):c.433_436del (p.Ile145fs)Pathogenic
not provided|CUL3-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 145
NM_003590.5(CUL3):c.1377+1G>APathogenic
not provided|CUL3-related disorder
β
β
ββ2025
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2025β Residue 449
NM_003590.5(CUL3):c.442C>T (p.Arg148Ter)Pathogenic
not provided|Neurodevelopmental disorder with or without autism or seizures
β
β
ββ2024β Residue 148
NM_003590.5(CUL3):c.1358del (p.Asn453fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2024β Residue 453
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)Pathogenic
not provided|Autosomal dominant pseudohypoaldosteronism type 1|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES
β
β
ββ2024β Residue 58
NM_003590.5(CUL3):c.1103_1106del (p.Gln368fs)Pathogenic
CUL3-related disorder|not provided
β
β
ββ2024β Residue 368
NM_003590.5(CUL3):c.883+1G>APathogenic
not provided
β
β
ββ2024
NM_003590.5(CUL3):c.1105del (p.Thr369fs)Pathogenic
not provided
β
βββ2025β Residue 369
NM_003590.5(CUL3):c.1519del (p.Val507fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 507
NM_003590.5(CUL3):c.1610+2T>CPathogenic
Neurodevelopmental disorder with or without autism or seizures
β
βββ2025
NM_003590.5(CUL3):c.859dup (p.Met287fs)Likely pathogenic
Neurodevelopmental disorder with or without autism or seizures
β
βββ2025β Residue 287
NM_003590.5(CUL3):c.963G>C (p.Leu321Phe)Likely pathogenic
Neurodevelopmental disorder with or without autism or seizures
β
βββ2025β Residue 321
NM_003590.5(CUL3):c.409G>T (p.Glu137Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 137
NM_003590.5(CUL3):c.1276del (p.Asp426fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 426
NM_003590.5(CUL3):c.235_236del (p.Glu79fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 79