NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter)Pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome|not provided
★★☆☆2025→ Residue 748
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter)Pathogenic
not provided|Spastic paraplegia-severe developmental delay-epilepsy syndrome
★★☆☆2024→ Residue 332
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)Pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome|Seizure;Global developmental delay;Generalized hypotonia|not provided|Intellectual disability
★★☆☆2023→ Residue 269
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter)Pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★★☆☆2020→ Residue 219
NM_020771.4(HACE1):c.177T>G (p.Tyr59Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 59
NM_020771.4(HACE1):c.1589G>A (p.Trp530Ter)Pathogenic
HACE1-related neurodevelopmental disorder
★☆☆☆2025→ Residue 530
NM_020771.4(HACE1):c.403-1G>CLikely pathogenic
not provided
★☆☆☆2025
NM_020771.4(HACE1):c.1506dup (p.His503fs)Likely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2025→ Residue 503
NM_020771.4(HACE1):c.1014dup (p.Ser339fs)Pathogenic
not provided
★☆☆☆2024→ Residue 339
NM_020771.4(HACE1):c.1225G>T (p.Glu409Ter)Pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2024→ Residue 409
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)Pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2024→ Residue 287
NM_020771.4(HACE1):c.2014+1G>ALikely pathogenic
not provided
★☆☆☆2024
NM_020771.4(HACE1):c.1865-2A>GLikely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2024
NM_020771.4(HACE1):c.714+1G>ALikely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2024
NM_020771.4(HACE1):c.2287G>C (p.Gly763Arg)Likely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2023→ Residue 763
NM_020771.4(HACE1):c.2475_2477del (p.Glu827del)Likely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2023→ Residue 827
NM_020771.4(HACE1):c.2212-1G>ALikely pathogenic
not provided
★☆☆☆2023
NM_020771.4(HACE1):c.1049_1050insC (p.Lys350fs)Likely pathogenic
HACE1-related disorder
★☆☆☆2022→ Residue 350
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)Pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2022→ Residue 51
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter)Likely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome
★☆☆☆2021→ Residue 481