NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)Pathogenic
Spastic paraplegia 83, autosomal recessive|not provided|Spastic paraplegia|Spastic ataxia|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β
β
ββ2025β Residue 50
NM_032756.4(HPDL):c.599del (p.Gly200fs)Pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|not provided
β
β
ββ2025β Residue 200
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)Pathogenic
Spastic paraplegia|Inborn genetic diseases|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β
β
ββ2025β Residue 1
NM_032756.4(HPDL):c.859T>C (p.Tyr287His)Pathogenic
Spastic paraplegia|Inborn genetic diseases|Spastic paraplegia 83, autosomal recessive
β
β
ββ2025β Residue 287
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Spastic paraplegia
β
β
ββ2025β Residue 263
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)Pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Inborn genetic diseases|not provided
β
β
ββ2023β Residue 32
NM_032756.4(HPDL):c.389_713del (p.Leu130fs)Likely pathogenic
not provided
β
βββ2025β Residue 130
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Spastic paraplegia|not provided
β
βββ2025β Residue 78
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β
βββ2025β Residue 342
NM_032756.4(HPDL):c.1066G>C (p.Ala356Pro)Likely pathogenic
Spastic paraplegia 83, autosomal recessive;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β
βββ2024β Residue 356
NM_032756.4(HPDL):c.1036del (p.Ala346fs)Likely pathogenic
not provided
β
βββ2024β Residue 346
NM_032756.4(HPDL):c.862T>C (p.Tyr288His)Likely pathogenic
Spastic paraplegia 83, autosomal recessive
β
βββ2024β Residue 288
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter)Pathogenic
Spastic paraplegia|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β
βββ2023β Residue 279
NM_032756.4(HPDL):c.852del (p.Ala286fs)Likely pathogenic
not provided
β
βββ2023β Residue 286
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs)Likely pathogenic
Spastic paraplegia|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
β
βββ2022β Residue 257
NM_032756.4(HPDL):c.163_164del (p.Leu55fs)Pathogenic
Inborn genetic diseases
β
βββ2022β Residue 55
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities|Spastic paraplegia|not provided
β
βββ2022β Residue 168
NM_032756.4(HPDL):c.759dup (p.Pro254fs)Pathogenic
Inborn genetic diseases
β
βββ2021β Residue 254
NM_032756.4(HPDL):c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC (p.Leu234fs)Pathogenic
Inborn genetic diseases
β
βββ2021β Residue 234
NM_032756.4(HPDL):c.529_530del (p.Leu177fs)Likely pathogenic
not provided|Spastic paraplegia
β
βββ2021β Residue 177