NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)Pathogenic
not provided|Lateral meningocele syndrome;Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|NOTCH3-related disorder
★★☆☆2026→ Residue 1021
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)Pathogenic
not provided|NOTCH3-related disorder
★★☆☆2026→ Residue 258
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|not provided|NOTCH3-related disorder
★★☆☆2026→ Residue 182
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)Pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome;Myofibromatosis, infantile, 2|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|Lateral meningocele syndrome
★★☆☆2026→ Residue 544
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Recurrent subcortical infarcts|not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome;Myofibromatosis, infantile, 2|NOTCH3-related disorder
★★☆☆2026→ Residue 133
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)Pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Lateral meningocele syndrome;Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|NOTCH3-related disorder
★★☆☆2026→ Residue 141
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)Pathogenic
not provided|Lateral meningocele syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Myofibromatosis, infantile, 2|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
★★☆☆2026→ Residue 49
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|not provided
★★☆☆2026→ Residue 174
NM_000435.3(NOTCH3):c.1364G>T (p.Cys455Phe)Pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
★★☆☆2026→ Residue 455
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)Pathogenic
not provided|Lateral meningocele syndrome;Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
★★☆☆2026→ Residue 146
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)Pathogenic
not provided|Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
★★☆☆2026→ Residue 607
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)Pathogenic
not provided|Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|NOTCH3-related disorder|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
★★☆☆2025→ Residue 578
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg)Pathogenic
not provided
★★☆☆2025→ Residue 185
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)Pathogenic
not provided|Lateral meningocele syndrome;Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|See cases|NOTCH3-related disorder
★★☆☆2025→ Residue 558
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)Pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|NOTCH3-related disorder
★★☆☆2025→ Residue 110
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|not provided|Stroke disorder;Migraine without aura|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome;Myofibromatosis, infantile, 2|NOTCH3-related disorder|Adult onset neurodegenerative disorder
★★☆☆2025→ Residue 169
NM_000435.3(NOTCH3):c.953G>T (p.Cys318Phe)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|not provided
★★☆☆2025→ Residue 318
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)Pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Adams-Oliver syndrome 5
★★☆☆2025→ Residue 65
NM_000435.3(NOTCH3):c.1702T>C (p.Cys568Arg)Likely pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|not provided
★★☆☆2025→ Residue 568
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)Pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
★★☆☆2025→ Residue 90