NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|SCYL1-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 176
NM_020680.4(SCYL1):c.1567C>T (p.Arg523Ter)Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|not provided
β
β
ββ2025β Residue 523
NM_020680.4(SCYL1):c.1841_1842del (p.Pro614fs)Likely pathogenic
not provided|Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
β
ββ2024β Residue 614
NM_020680.4(SCYL1):c.459C>T (p.Gly153=)Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|not provided
β
β
ββ2024β Residue 153
NM_020680.4(SCYL1):c.1386+1G>TPathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
β
ββ2023
NM_020680.4(SCYL1):c.1021del (p.Phe340_Leu341insTer)Pathogenic
not provided
β
βββ2025β Residue 340
NM_020680.4(SCYL1):c.3G>A (p.Met1Ile)Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2025β Residue 1
NM_020680.4(SCYL1):c.1173_1174dup (p.His392fs)Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2024β Residue 392
NM_020680.4(SCYL1):c.2094dup (p.Glu699Ter)Pathogenic
not provided
β
βββ2024β Residue 699
NM_020680.4(SCYL1):c.1A>T (p.Met1Leu)Likely pathogenic
not provided
β
βββ2024β Residue 1
NM_020680.4(SCYL1):c.1180del (p.Val394fs)Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2023β Residue 394
NM_020680.4(SCYL1):c.60_70del (p.Glu22fs)Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2023β Residue 22
NM_020680.4(SCYL1):c.1117-1G>ALikely pathogenic
not provided
β
βββ2023
NM_020680.4(SCYL1):c.476del (p.Gly159fs)Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2023β Residue 159
NM_020680.4(SCYL1):c.1386+1G>APathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2023
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2023β Residue 531
NM_020680.4(SCYL1):c.1230+1G>ALikely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|not provided
β
βββ2023
NM_020680.4(SCYL1):c.2031+1G>CLikely pathogenic
not provided
β
βββ2022
NM_020680.4(SCYL1):c.560del (p.Pro187fs)Pathogenic
Inborn genetic diseases
β
βββ2021β Residue 187
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
β
βββ2019β Residue 151