NM_018941.4(CLN8):c.611G>A (p.Arg204His)Likely pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis
β
β
ββ2026β Residue 204
NM_018941.4(CLN8):c.1A>G (p.Met1Val)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|not provided
β
β
ββ2026β Residue 1
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)Pathogenic
not provided|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8|Inborn genetic diseases|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant;Neuronal ceroid lipofuscinosis 8
β
β
ββ2025β Residue 167
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)Pathogenic
Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8
β
β
ββ2025β Residue 10
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8;Neuronal ceroid lipofuscinosis 8 northern epilepsy variant|Inborn genetic diseases
β
β
ββ2025β Residue 158
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)Likely pathogenic
Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8
β
β
ββ2025β Residue 70
NM_018941.4(CLN8):c.620T>G (p.Leu207Arg)Likely pathogenic
Neuronal ceroid lipofuscinosis
β
β
ββ2025β Residue 207
NM_018941.4(CLN8):c.209G>A (p.Arg70His)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|Inborn genetic diseases|not provided
β
β
ββ2025β Residue 70
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)Pathogenic
Neuronal ceroid lipofuscinosis 8|not provided|Neuronal ceroid lipofuscinosis
β
β
ββ2025β Residue 237
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)Pathogenic
Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant;Neuronal ceroid lipofuscinosis 8|not provided|Neuronal ceroid lipofuscinosis 8
β
β
ββ2025β Residue 99
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant;Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|not provided|CLN8-related disorder
β
β
ββ2025β Residue 204
NM_018941.4(CLN8):c.703del (p.Val236fs)Pathogenic
Neuronal ceroid lipofuscinosis|Inborn genetic diseases
β
β
ββ2025β Residue 236
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis
β
β
ββ2024β Residue 133
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis
β
β
ββ2024β Residue 255
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)Pathogenic
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant|Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant;Neuronal ceroid lipofuscinosis 8
β
β
ββ2024β Residue 24
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)Pathogenic
Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis
β
β
ββ2023β Residue 188
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)Pathogenic
Neuronal ceroid lipofuscinosis 8|not provided|Neuronal ceroid lipofuscinosis
β
β
ββ2023β Residue 263
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)Pathogenic
Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8
β
β
ββ2022β Residue 200
NM_018941.4(CLN8):c.298C>T (p.Gln100Ter)Pathogenic
Neuronal ceroid lipofuscinosis
β
βββ2025β Residue 100
NM_018941.4(CLN8):c.1A>C (p.Met1Leu)Pathogenic
Neuronal ceroid lipofuscinosis
β
βββ2025β Residue 1