NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg)Likely pathogenic
Hereditary spastic paraplegia 31|not provided
β
β
ββ2025β Residue 19
NM_001371279.1(REEP1):c.303+1G>ALikely pathogenic
not provided|Hereditary spastic paraplegia 31
β
β
ββ2025
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)Pathogenic
Hereditary spastic paraplegia 31|Spastic paraplegia|not provided|Hereditary spastic paraplegia|Inborn genetic diseases
β
β
ββ2025β Residue 20
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)Pathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia|not provided
β
β
ββ2025β Residue 113
NM_001371279.1(REEP1):c.33-2A>GPathogenic
Hereditary spastic paraplegia 31|Spastic paraplegia|Hereditary spastic paraplegia|not provided
β
β
ββ2025
NM_001371279.1(REEP1):c.106-2A>TPathogenic
Hereditary spastic paraplegia 31|not provided
β
β
ββ2025
NM_001371279.1(REEP1):c.248del (p.Gly83fs)Likely pathogenic
Neuronopathy, distal hereditary motor, type 5B|Spinal muscular atrophy, distal, autosomal recessive, 6|Neuronopathy, distal hereditary motor, type 5B;Hereditary spastic paraplegia 31
β
β
ββ2024β Residue 83
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter)Pathogenic
Hereditary spastic paraplegia 31|not provided
β
β
ββ2024β Residue 65
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)Pathogenic
Hereditary spastic paraplegia 31|not provided|Inborn genetic diseases
β
β
ββ2024β Residue 1
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)Pathogenic
Hereditary spastic paraplegia 31|not provided
β
β
ββ2024β Residue 115
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)Pathogenic
Hereditary spastic paraplegia 31|not provided
β
β
ββ2023β Residue 85
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)Pathogenic
Hereditary spastic paraplegia 31
β
β
ββ2023β Residue 19
NM_001371279.1(REEP1):c.417+1G>APathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia
β
β
ββ2022
NM_001371279.1(REEP1):c.512del (p.Pro171fs)Pathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia
β
β
ββ2022β Residue 171
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)Pathogenic
not provided|Hereditary spastic paraplegia 31
β
β
ββ2021β Residue 61
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs)Likely pathogenic
Hereditary spastic paraplegia 31|not provided
β
β
ββ2017β Residue 180
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)Pathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia
β
β
ββ2017β Residue 38
NM_001371279.1(REEP1):c.182+1G>ALikely pathogenic
Hereditary spastic paraplegia 31
β
βββ2026
NM_001371279.1(REEP1):c.105+2T>CPathogenic
Hereditary spastic paraplegia 31
β
βββ2025
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg)Likely pathogenic
Hereditary spastic paraplegia 31
β
βββ2025β Residue 118