NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)Pathogenic
CARASIL syndrome|Personality changes;Cognitive impairment;Seizure|Small vessel cerebrovascular disease|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β
β
ββ2025β Residue 302
NM_002775.5(HTRA1):c.972+1G>APathogenic
not provided|Age related macular degeneration 7
β
β
ββ2025
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β
β
ββ2025β Residue 166
NM_002775.5(HTRA1):c.497G>A (p.Arg166His)Likely pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2;CARASIL syndrome|Cerebral arterial disease
β
β
ββ2025β Residue 166
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β
β
ββ2025β Residue 166
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)Pathogenic
not provided|HTRA1-related autosomal dominant cerebral small vessel disease
β
β
ββ2025β Residue 62
NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter)Pathogenic
not provided
β
β
ββ2025β Residue 89
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)Pathogenic
not provided|Vascular dementia|HTRA1-related cerebral small vessel disease|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
β
β
ββ2025β Residue 283
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)Pathogenic
CARASIL syndrome|not provided
β
β
ββ2024β Residue 295
NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)Pathogenic
HTRA1-related disorder|CARASIL syndrome|HTRA1-related cerebral small vessel disease
β
β
ββ2024β Residue 386
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)Pathogenic
CARASIL syndrome|HTRA1-related cerebral small vessel disease|not provided
β
β
ββ2024β Residue 370
NM_002775.5(HTRA1):c.543del (p.Ala182fs)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β
β
ββ2024β Residue 182
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln)Pathogenic
CARASIL syndrome|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β
β
ββ2023β Residue 302
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β
β
ββ2021β Residue 289
NM_002775.5(HTRA1):c.547G>A (p.Val183Met)Likely pathogenic
not provided
β
βββ2025β Residue 183
NM_002775.5(HTRA1):c.889G>A (p.Val297Met)Pathogenic
CARASIL syndrome|not provided
β
βββ2025β Residue 297
NM_002775.5(HTRA1):c.89C>A (p.Ser30Ter)Pathogenic
HTRA1-related autosomal dominant cerebral small vessel disease
β
βββ2025β Residue 30
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)Pathogenic
CARASIL syndrome|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
β
βββ2025β Residue 252
NM_002775.5(HTRA1):c.1120+1G>ALikely pathogenic
not provided
β
βββ2024
NM_002775.5(HTRA1):c.777+1G>ALikely pathogenic
not provided
β
βββ2024