NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)Pathogenic
not provided|Hereditary spastic paraplegia 11
β
β
ββ2026β Residue 1104
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)Pathogenic
Hereditary spastic paraplegia 11|Hereditary spastic paraplegia|SPG11-related disorder
β
β
ββ2026β Residue 493
NM_025137.4(SPG11):c.733_734del (p.Met245fs)Pathogenic
Hereditary spastic paraplegia 11|Amyotrophic lateral sclerosis type 5|not provided|Hereditary spastic paraplegia|Inborn genetic diseases|Hereditary spastic paraplegia 11;Amyotrophic lateral sclerosis type 5|Charcot-Marie-Tooth disease axonal type 2X|SPG11-related disorder|Cerebral amyloid angiopathy, APP-related|Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Amyotrophic lateral sclerosis type 5
β
β
ββ2026β Residue 245
NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)Pathogenic
Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Amyotrophic lateral sclerosis type 5|Hereditary spastic paraplegia 11
β
β
ββ2026β Residue 2287
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)Pathogenic
Hereditary spastic paraplegia 11|Hereditary spastic paraplegia|SPG11-related disorder|Early-onset Parkinson disease 20|Amyotrophic lateral sclerosis type 5;Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X|not provided|Charcot-Marie-Tooth disease axonal type 2X
β
β
ββ2026β Residue 2200
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)Pathogenic
not provided|Hereditary spastic paraplegia 11|Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Amyotrophic lateral sclerosis type 5|Hereditary spastic paraplegia|Charcot-Marie-Tooth disease axonal type 2X|Amyotrophic lateral sclerosis type 5
β
β
ββ2026β Residue 362
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)Pathogenic
Hereditary spastic paraplegia 11|Amyotrophic lateral sclerosis type 5|not provided
β
β
ββ2026β Residue 2385
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)Pathogenic
Hereditary spastic paraplegia 11|not provided|Amyotrophic lateral sclerosis type 5;Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X|Hereditary spastic paraplegia|Charcot-Marie-Tooth disease axonal type 2X|SPG11-related disorder
β
β
ββ2026β Residue 450
NM_025137.4(SPG11):c.5866+1G>APathogenic
Hereditary spastic paraplegia 11|not provided|Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11
β
β
ββ2026
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)Pathogenic
Hereditary spastic paraplegia 11|not provided|Inborn genetic diseases
β
β
ββ2026β Residue 1949
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)Pathogenic
Hereditary spastic paraplegia 11|Hereditary spastic paraplegia|not provided|Charcot-Marie-Tooth disease axonal type 2X
β
β
ββ2026β Residue 651
NM_025137.4(SPG11):c.3039-1G>TLikely pathogenic
Hereditary spastic paraplegia 11|Familial cancer of breast
β
β
ββ2026
NM_025137.4(SPG11):c.2317-13C>GPathogenic
Hereditary spastic paraplegia 11|not provided|Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11
β
β
ββ2026
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)Pathogenic
Hereditary spastic paraplegia 11|not provided|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2X|Hereditary spastic paraplegia
β
β
ββ2026β Residue 1436
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)Pathogenic
Hereditary spastic paraplegia 11|not provided|SPG11-related disorder
β
β
ββ2026β Residue 1824
NM_025137.4(SPG11):c.2716del (p.Gln906fs)Pathogenic
Hereditary spastic paraplegia 11|not provided|Hereditary spastic paraplegia|Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11
β
β
ββ2026β Residue 906
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)Pathogenic
not provided|Hereditary spastic paraplegia 11
β
β
ββ2026β Residue 1928
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)Pathogenic
Spastic paraparesis;Difficulty walking;Generalized hyperreflexia;Gait disturbance|Hereditary spastic paraplegia 11|not provided|Hereditary spastic paraplegia|Amyotrophic lateral sclerosis|Inborn genetic diseases|Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Juvenile amyotrophic lateral sclerosis|Charcot-Marie-Tooth disease axonal type 2X|Amyotrophic lateral sclerosis type 5;Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X
β
β
ββ2025β Residue 1794
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)Pathogenic
Hereditary spastic paraplegia 11|not provided|Inborn genetic diseases|Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11
β
β
ββ2025β Residue 2247
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)Pathogenic
Charcot-Marie-Tooth disease axonal type 2X|not provided|Hereditary spastic paraplegia 11
β
β
ββ2025β Residue 2300