NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders|Ovarian serous cystadenocarcinoma
β
β
ββ2026β Residue 152
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)Pathogenic
not provided|Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|ASAH1-related disorders
β
β
ββ2025β Residue 62
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter)Pathogenic
not provided|ASAH1-related disorders|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β
β
ββ2025β Residue 49
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis
β
β
ββ2025β Residue 137
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)Likely pathogenic
Farber lipogranulomatosis|not provided
β
β
ββ2025β Residue 138
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)Pathogenic
Farber lipogranulomatosis|not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β
β
ββ2025β Residue 333
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders
β
β
ββ2025β Residue 42
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)Pathogenic
not provided|Farber lipogranulomatosis|Abnormality of metabolism/homeostasis
β
β
ββ2025β Residue 333
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)Pathogenic
Farber lipogranulomatosis|not provided
β
β
ββ2025β Residue 138
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)Pathogenic
Farber lipogranulomatosis|not provided|ASAH1-related disorders
β
β
ββ2025β Residue 136
NM_177924.5(ASAH1):c.185G>A (p.Trp62Ter)Pathogenic
not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β
β
ββ2025β Residue 62
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)Pathogenic
not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis
β
β
ββ2024β Residue 1
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)Pathogenic
Farber lipogranulomatosis|not provided
β
β
ββ2024β Residue 36
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)Likely pathogenic
Farber lipogranulomatosis|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β
β
ββ2024β Residue 366
NM_177924.5(ASAH1):c.457+4A>GPathogenic
Farber lipogranulomatosis|not provided|Inborn genetic diseases
β
β
ββ2024
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)Pathogenic
Farber lipogranulomatosis|not provided
β
β
ββ2024β Residue 59
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided
β
β
ββ2024β Residue 59
NM_177924.5(ASAH1):c.648+1G>CLikely pathogenic
Farber lipogranulomatosis|not provided
β
β
ββ2024
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)Pathogenic
not provided|Farber lipogranulomatosis
β
β
ββ2024β Residue 169
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)Likely pathogenic
Farber lipogranulomatosis
β
β
ββ2024β Residue 97