NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1|Epilepsy
β
β
ββ2026β Residue 401
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Inborn genetic diseases|Congenital disorder of deglycosylation 1
β
β
ββ2026β Residue 411
NM_018297.4(NGLY1):c.658+1G>ALikely pathogenic
Congenital disorder of deglycosylation|not provided
β
β
ββ2026
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)Pathogenic
Congenital disorder of deglycosylation|Neurodevelopmental delay|not provided
β
β
ββ2026β Residue 311
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)Pathogenic
not provided|Inborn genetic diseases|Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β
β
ββ2026β Residue 469
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β
β
ββ2025β Residue 191
NM_018297.4(NGLY1):c.953T>C (p.Leu318Pro)Likely pathogenic
Congenital disorder of deglycosylation
β
β
ββ2025β Residue 318
NM_018297.4(NGLY1):c.1150-1G>CPathogenic
not provided|Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β
β
ββ2025
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1|not provided
β
β
ββ2025β Residue 342
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)Likely pathogenic
Neurodevelopmental abnormality|Congenital disorder of deglycosylation 1
β
β
ββ2025β Residue 328
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β
β
ββ2025β Residue 291
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter)Pathogenic
not provided|Congenital disorder of deglycosylation
β
β
ββ2025β Residue 321
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)Pathogenic
Intellectual disability;Peripheral neuropathy;Neuromotor delay|Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β
β
ββ2025β Residue 511
NM_018297.4(NGLY1):c.904_905del (p.Leu302fs)Pathogenic
Congenital disorder of deglycosylation|not provided
β
β
ββ2025β Residue 302
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β
β
ββ2025β Residue 631
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β
β
ββ2025β Residue 542
NM_018297.4(NGLY1):c.1570dup (p.Met524fs)Pathogenic
not provided|Congenital disorder of deglycosylation
β
β
ββ2025β Residue 524
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)Pathogenic
Inborn genetic diseases|Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β
β
ββ2024β Residue 586
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β
β
ββ2024β Residue 575
NM_018297.4(NGLY1):c.177del (p.Ala60fs)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β
β
ββ2024β Residue 60