NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)Pathogenic
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia|not provided|Developmental and epileptic encephalopathy, 5|Early-infantile DEE
★★☆☆2026→ Residue 2083
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)Pathogenic
Developmental and epileptic encephalopathy, 5|not provided|Early-infantile DEE
★★☆☆2025→ Residue 2308
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])Pathogenic
Developmental and epileptic encephalopathy, 5|not provided|Undetermined early-onset epileptic encephalopathy|not specified|Inborn genetic diseases|SPTAN1-related disorder|Early-infantile DEE
★★☆☆2025
NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter)Pathogenic
not provided|Hereditary spastic paraplegia
★★☆☆2025→ Residue 2011
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])Pathogenic
not provided|Focal epilepsy|See cases|Developmental and epileptic encephalopathy, 5|Developmental delay with or without epilepsy|SPTAN1-related disorder|Early-infantile DEE
★★☆☆2025
NM_001130438.3(SPTAN1):c.3014G>A (p.Trp1005Ter)Pathogenic
Developmental and epileptic encephalopathy, 5
★★☆☆2025→ Residue 1005
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 5|Neuronopathy, distal hereditary motor, autosomal dominant 11|Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
★★☆☆2025→ Residue 139
NM_001130438.3(SPTAN1):c.3388C>T (p.Gln1130Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal dominant 11|Inborn genetic diseases
★★☆☆2025→ Residue 1130
NM_001130438.3(SPTAN1):c.1879C>T (p.Arg627Ter)Pathogenic
not provided
★★☆☆2025→ Residue 627
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)Pathogenic
Developmental delay with or without epilepsy;Neuronopathy, distal hereditary motor, autosomal dominant 11|Developmental and epileptic encephalopathy, 5|Neurodevelopmental abnormality|not provided
★★☆☆2025→ Residue 156
NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter)Pathogenic
not provided
★★☆☆2025→ Residue 45
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)Pathogenic
not provided|Developmental and epileptic encephalopathy, 5|Early-infantile DEE
★★☆☆2024→ Residue 2271
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)Pathogenic
not provided|Early-infantile DEE
★★☆☆2024→ Residue 548
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)Pathogenic
Developmental and epileptic encephalopathy, 5|not provided|SPTAN1-related disorder|Early-infantile DEE
★★☆☆2024→ Residue 2207
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)Pathogenic
SPTAN1-related disorder|Early-infantile DEE
★★☆☆2023→ Residue 2006
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)Pathogenic
not provided|Developmental and epileptic encephalopathy, 5|Congenital cerebellar hypoplasia|SPTAN1-related disorder
★★☆☆2023→ Residue 1610
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)Likely pathogenic
Developmental and epileptic encephalopathy, 5|Early-infantile DEE
★★☆☆2023→ Residue 2198
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)Pathogenic
not provided|Epileptic encephalopathy|Developmental and epileptic encephalopathy, 5
★★☆☆2022→ Residue 2308
NM_001130438.3(SPTAN1):c.3227del (p.Leu1076fs)Likely pathogenic
Developmental delay with or without epilepsy
★☆☆☆2026→ Residue 1076
NM_001130438.3(SPTAN1):c.428_431del (p.Ile143fs)Likely pathogenic
Autosomal dominant SPTAN1-related disorders
★☆☆☆2025→ Residue 143