NM_024306.5(FA2H):c.911dup (p.Leu305fs)Pathogenic
Hereditary spastic paraplegia 35|Spastic paraplegia
β
β
ββ2026β Residue 305
NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)Pathogenic
Hereditary spastic paraplegia 35|not provided|Spastic paraplegia
β
β
ββ2025β Residue 53
NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)Pathogenic
Hereditary spastic paraplegia 35|Spastic paraplegia|not provided
β
β
ββ2025β Residue 170
NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)Pathogenic
Spastic paraplegia|Neurodegeneration with brain iron accumulation|not provided
β
β
ββ2025β Residue 44
NM_024306.5(FA2H):c.1A>G (p.Met1Val)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 35
β
β
ββ2025β Residue 1
NM_024306.5(FA2H):c.379C>T (p.Arg127Ter)Pathogenic
not provided|Hereditary spastic paraplegia 35
β
β
ββ2025β Residue 127
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)Pathogenic
Spastic paraplegia|Inborn genetic diseases|not provided|Neurodegeneration with brain iron accumulation|Hereditary spastic paraplegia 35
β
β
ββ2025β Residue 148
NM_024306.5(FA2H):c.786+1G>APathogenic
Hereditary spastic paraplegia 35|not provided
β
β
ββ2025
NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)Pathogenic
not provided|Hereditary spastic paraplegia 35|Spastic paraplegia
β
β
ββ2025β Residue 44
NM_024306.5(FA2H):c.888del (p.Gly298fs)Pathogenic
Spastic paraplegia|not provided
β
β
ββ2025β Residue 298
NM_024306.5(FA2H):c.704G>A (p.Arg235His)Pathogenic
Hereditary spastic paraplegia 35|Spastic paraplegia
β
β
ββ2025β Residue 235
NM_024306.5(FA2H):c.620C>T (p.Thr207Met)Pathogenic
Hereditary spastic paraplegia|Hereditary spastic paraplegia 35|Spastic paraplegia
β
β
ββ2025β Residue 207
NM_024306.5(FA2H):c.941_945del (p.Thr314fs)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 35
β
β
ββ2025β Residue 314
NM_024306.5(FA2H):c.131del (p.Pro44fs)Pathogenic
Hereditary spastic paraplegia 35
β
β
ββ2025β Residue 44
NM_024306.5(FA2H):c.806G>A (p.Arg269His)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 35|not provided
β
β
ββ2024β Residue 269
NM_024306.5(FA2H):c.340_363+8delPathogenic
Hereditary spastic paraplegia 35|Spastic paraplegia|not provided
β
β
ββ2024
NM_024306.5(FA2H):c.822del (p.Val275fs)Pathogenic
Hereditary spastic paraplegia 35
β
β
ββ2024β Residue 275
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)Pathogenic
Spastic paraplegia|not provided|Hereditary spastic paraplegia 35
β
β
ββ2024β Residue 197
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)Pathogenic
Inborn genetic diseases|Hereditary spastic paraplegia|Hereditary spastic paraplegia 35|not provided
β
β
ββ2024β Residue 189
NM_024306.5(FA2H):c.363+2T>CPathogenic
Hereditary spastic paraplegia 35
β
β
ββ2023