NM_014334.4(FRRS1L):c.566del (p.Pro189fs)Pathogenic
Developmental and epileptic encephalopathy, 37|not provided
β
β
ββ2026β Residue 189
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)Pathogenic
Developmental and epileptic encephalopathy, 37|Progressive encephalopathy;Seizure;Chorea|not provided|Inborn genetic diseases|FRRS1L-related disorder
β
β
ββ2026β Residue 195
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter)Pathogenic
Developmental and epileptic encephalopathy, 37|not provided
β
β
ββ2025β Residue 162
NM_014334.4(FRRS1L):c.721C>T (p.Arg241Ter)Pathogenic
Developmental and epileptic encephalopathy, 37|FRRS1L-related disorder
β
β
ββ2025β Residue 241
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs)Pathogenic
Developmental and epileptic encephalopathy, 37|Chorea;Progressive encephalopathy;Seizure
β
β
ββ2025β Residue 95
NM_014334.4(FRRS1L):c.246dup (p.Phe83fs)Pathogenic
not provided|Developmental and epileptic encephalopathy, 37
β
β
ββ2024β Residue 83
NM_014334.4(FRRS1L):c.517C>T (p.Gln173Ter)Pathogenic
Developmental and epileptic encephalopathy, 37
β
β
ββ2024β Residue 173
NM_014334.4(FRRS1L):c.583G>T (p.Gly195Ter)Pathogenic
Developmental and epileptic encephalopathy, 37|not provided
β
β
ββ2024β Residue 195
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)Pathogenic
Developmental and epileptic encephalopathy, 37|Seizure;Chorea;Progressive encephalopathy
β
β
ββ2024β Residue 270
NM_014334.4(FRRS1L):c.-78G>TPathogenic
not provided|Developmental and epileptic encephalopathy, 37
β
β
ββ2023
NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)Likely pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2026β Residue 104
NM_014334.4(FRRS1L):c.-99delPathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2026
NM_014334.4(FRRS1L):c.543G>A (p.Trp181Ter)Pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025β Residue 181
NM_014334.4(FRRS1L):c.116dup (p.Arg40fs)Likely pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025β Residue 40
NM_014334.4(FRRS1L):c.145del (p.Asp49fs)Pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025β Residue 49
NM_014334.4(FRRS1L):c.327del (p.Arg108_Tyr109insTer)Pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025β Residue 108
NC_000009.12:g.109167267delPathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025
NM_014334.4(FRRS1L):c.239-2A>GLikely pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025
NM_014334.4(FRRS1L):c.189C>G (p.Tyr63Ter)Pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2025β Residue 63
NM_014334.4(FRRS1L):c.321del (p.Phe107fs)Pathogenic
Developmental and epileptic encephalopathy, 37
β
βββ2024β Residue 107