Sugi Variant

Sugi Variant/NOTCH3

NOTCH3 — 2092 ClinVar variants

All ClinVar germline NOTCH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 906 flagged for review →

146 Pathogenic · 70 Pathogenic/Likely pathogenic · 102 Likely pathogenic · 222 Conflicting · 100 Benign · 113 Benign/Likely benign · 471 Likely benign · 868 Uncertain significance

Full NOTCH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 906

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 15

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 156

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 156

Predictors lean, ClinVar uncertain 520

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 520

Predictors split 215

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 215

All NOTCH3 variants

Pathogenic 146

  • c.341-2A>G Multiple submitters
  • c.341-2A>T Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala2233fs Multiple submitters lateral meningocele syndrome
  • p.Arg1006Cys Multiple submitters NOTCH3-related disorder ⚠
  • p.Arg110Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg141Cys Multiple submitters lateral meningocele syndrome
  • p.Arg153Cys Multiple submitters transient ischemic attack
  • p.Arg182Cys Multiple submitters NOTCH3-related disorder ⚠
  • p.Arg90Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1004Tyr Multiple submitters NOTCH3-related disorder
  • p.Cys106Arg Multiple submitters
  • p.Cys108Phe Multiple submitters
  • p.Cys117Phe Multiple submitters NOTCH3-related disorder
  • p.Cys117Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys146Tyr Multiple submitters lateral meningocele syndrome
  • p.Cys174Tyr Multiple submitters NOTCH3-related disorder
  • p.Cys185Arg Multiple submitters NOTCH3-related disorder
  • p.Cys185Tyr Multiple submitters
  • p.Cys194Arg Multiple submitters
  • p.Cys194Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys194Tyr Multiple submitters cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Cys201Ser Multiple submitters
  • p.Cys224Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys251Arg Multiple submitters NOTCH3-related disorder
  • p.Cys251Tyr Multiple submitters
  • p.Cys271Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys428Arg Multiple submitters
  • p.Cys455Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys478Tyr Multiple submitters
  • p.Cys49Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys76Arg Multiple submitters
  • p.Cys82Arg Multiple submitters
  • p.Cys93Tyr Multiple submitters
  • p.Cys997Gly Multiple submitters
  • p.Gly528Cys Multiple submitters
  • p.Ser396Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Trp71Cys Multiple submitters
  • p.Tyr189Cys Multiple submitters
  • p.Tyr2221Ter Multiple submitters lateral meningocele syndrome
  • p.Tyr337Cys Multiple submitters NOTCH3-related disorder ⚠
  • c.341-1G>C Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala319Cys Single submitter
  • p.Arg103Ter Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg1309Cys Single submitter
  • p.Arg244Ter Single submitter
  • p.Asn856fs Single submitter
  • p.Asp1454fs Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Asp1477fs Single submitter
  • p.Cys1009Tyr Single submitter
  • p.Cys1015Phe Single submitter
  • p.Cys1022Phe Single submitter
  • p.Cys1081Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys108Ser Single submitter
  • p.Cys108Tyr Single submitter vascular dementia
  • p.Cys117Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys128Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys134Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys144Tyr Single submitter
  • p.Cys162Arg Single submitter
  • p.Cys162Tyr Single submitter
  • p.Cys174Phe Single submitter
  • p.Cys174Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys183Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys183Tyr Single submitter
  • p.Cys185Gly Single submitter
  • p.Cys194Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys201Phe Single submitter
  • p.Cys212Gly Single submitter
  • p.Cys212Tyr Single submitter
  • p.Cys222Arg Single submitter
  • p.Cys222Ser Single submitter
  • p.Cys224Phe Single submitter
  • p.Cys233Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys240Phe Single submitter
  • p.Cys240Ser Single submitter
  • p.Cys251Ser Single submitter
  • p.Cys271Arg Single submitter
  • p.Cys278Arg Single submitter
  • p.Cys291Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys311Tyr Single submitter
  • p.Cys323Ser Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Cys323Tyr Single submitter
  • p.Cys329Arg Single submitter
  • p.Cys329Tyr Single submitter
  • p.Cys338Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys340Tyr Single submitter
  • p.Cys379Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys388Tyr Single submitter Leukodystrophy, Adult-Onset
  • p.Cys408Tyr Single submitter
  • p.Cys419Trp Single submitter
  • p.Cys428Phe Single submitter
  • p.Cys43Phe Single submitter
  • p.Cys43Tyr Single submitter
  • p.Cys446Phe Single submitter
  • p.Cys457Gly Single submitter
  • p.Cys457Ser Single submitter
  • p.Cys457Tyr Single submitter
  • p.Cys484Phe Single submitter
  • p.Cys484Ser Single submitter
  • p.Cys484Tyr Single submitter
  • p.Cys493Tyr Single submitter
  • p.Cys49Arg Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Cys49Phe Single submitter prostate cancer
  • p.Cys511Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys511Trp Single submitter
  • p.Cys533Arg Single submitter
  • p.Cys549Ser Single submitter
  • p.Cys549Tyr Single submitter
  • p.Cys55Arg Single submitter
  • p.Cys579Tyr Single submitter
  • p.Cys65Gly Single submitter
  • p.Cys65Phe Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys67Ser Single submitter
  • p.Cys76Ser Single submitter
  • p.Cys76Tyr Single submitter stroke disorder
  • p.Cys87Arg Single submitter
  • p.Cys933Phe Single submitter
  • p.Cys988Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys997Ter Single submitter
  • p.Gln184Ter Single submitter
  • p.Gln443Ter Single submitter
  • p.Gln996fs Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
  • p.Gly2154fs Single submitter lateral meningocele syndrome
  • p.Gly557Cys Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Gly804Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly85fs Single submitter
  • p.Leu2170fs Single submitter
  • p.Leu2189fs Single submitter
  • p.Lys2083Ter Single submitter lateral meningocele syndrome
  • p.Pro21fs Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
  • p.Ser118Cys Single submitter
  • p.Ser1447fs Single submitter
  • p.Ser414Cys Single submitter
  • p.Thr250fs Single submitter
  • p.Tyr1453Ter Single submitter
  • p.Tyr2244Ter Single submitter lateral meningocele syndrome
  • p.Tyr529Ter Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
  • c.2411-1G>T No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala63Thr No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg735Ter No assertion criteria cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
  • p.Asp239_Asp253del No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys212Arg No assertion criteria migraine disorder
  • p.Cys233Arg No assertion criteria NOTCH3-related disorder
  • p.Cys428Ser No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys531Gly No assertion criteria
  • p.Gly498Cys No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Pathogenic/Likely pathogenic 70

  • p.Arg1031Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg1076Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg133Cys Multiple submitters NOTCH3-related disorder
  • p.Arg169Cys Multiple submitters NOTCH3-related disorder ⚠
  • p.Arg207Cys Multiple submitters lateral meningocele syndrome ⚠
  • p.Arg332Cys Multiple submitters NOTCH3-related disorder
  • p.Arg421Cys Multiple submitters NOTCH3-related disorder
  • p.Arg427Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg532Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg544Cys Multiple submitters myofibromatosis, infantile, 2 ⚠
  • p.Arg54Cys Multiple submitters lateral meningocele syndrome ⚠
  • p.Arg558Cys Multiple submitters lateral meningocele syndrome
  • p.Arg578Cys Multiple submitters NOTCH3-related disorder ⚠
  • p.Arg592Cys Multiple submitters NOTCH3-related disorder
  • p.Arg607Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg75Pro Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg985Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys1015Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1061Tyr Multiple submitters cerebral arterial disease
  • p.Cys106Gly Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1099Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys117Gly Multiple submitters
  • p.Cys123Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys134Trp Multiple submitters
  • p.Cys144Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys146Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys168Ser Multiple submitters NOTCH3-related disorder
  • p.Cys174Arg Multiple submitters NOTCH3-related disorder
  • p.Cys183Phe Multiple submitters NOTCH3-related disorder
  • p.Cys185Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys201Tyr Multiple submitters
  • p.Cys206Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys212Ser Multiple submitters
  • p.Cys222Tyr Multiple submitters
  • p.Cys233Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys245Ser Multiple submitters Leukodystrophy, Adult-Onset
  • p.Cys260Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys318Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys379Gly Multiple submitters
  • p.Cys402Ser Multiple submitters
  • p.Cys419Gly Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys428Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys455Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys49Gly Multiple submitters lateral meningocele syndrome
  • p.Cys511Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys516Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys516Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys542Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys542Tyr Multiple submitters
  • p.Cys55Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys597Trp Multiple submitters NOTCH3-related disorder
  • p.Cys597Tyr Multiple submitters
  • p.Cys606Arg Multiple submitters
  • p.Cys65Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Cys65Tyr Multiple submitters Cerebral autosomal dominant arteiopathy with subcortical infarcts and leukencephalopathy
  • p.Cys67Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys76_Gln77insArgValGlyGluArgCys Multiple submitters
  • p.Cys82Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly1329fs Multiple submitters
  • p.Gly152Cys Multiple submitters NOTCH3-related disorder
  • p.Gly382Cys Multiple submitters NOTCH3-related disorder
  • p.Gly420Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Leu2137fs Multiple submitters lateral meningocele syndrome
  • p.Phe984Cys Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2210fs Multiple submitters lateral meningocele syndrome
  • p.Trp1003Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1021Cys Multiple submitters NOTCH3-related disorder ⚠
  • p.Tyr150Cys Multiple submitters
  • p.Tyr258Cys Multiple submitters NOTCH3-related disorder
  • p.Tyr423Cys Multiple submitters

Likely pathogenic 102

  • p.Cys1015Trp Multiple submitters
  • p.Cys162Gly Multiple submitters NOTCH3-related disorder
  • p.Cys183Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys311Phe Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys338Phe Multiple submitters
  • p.Cys504Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys559Tyr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys568Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2231fs Multiple submitters NOTCH3-related disorder
  • p.Trp266Cys Multiple submitters
  • p.Tyr710Cys Multiple submitters NOTCH3-related disorder ⚠
  • c.1492+1G>A Single submitter
  • c.2292_2296+4del Single submitter
  • c.2793-2A>G Single submitter
  • c.5115-12_5137del Single submitter NOTCH3-related disorder
  • c.5362+2T>A Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg10fs Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg133Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg449His Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys1033Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1055Arg Single submitter NOTCH3-related disorder
  • p.Cys106Ser Single submitter
  • p.Cys106Trp Single submitter
  • p.Cys108Arg Single submitter
  • p.Cys117Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1191Arg Single submitter
  • p.Cys1261Trp Single submitter
  • p.Cys128Phe Single submitter
  • p.Cys1293Phe Single submitter
  • p.Cys1315Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys144Arg Single submitter
  • p.Cys144Ser Single submitter NOTCH3-related disorder
  • p.Cys146Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys146Phe Single submitter
  • p.Cys146Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys162Phe Single submitter
  • p.Cys162Ser Single submitter
  • p.Cys174Trp Single submitter
  • p.Cys183_Gln184insCys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys201Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys201Gly Single submitter
  • p.Cys201Trp Single submitter NOTCH3-related disorder
  • p.Cys206Ser Single submitter NOTCH3-related disorder
  • p.Cys212Phe Single submitter
  • p.Cys224Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys251Phe Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys318Trp Single submitter
  • p.Cys366Trp Single submitter
  • p.Cys379Phe Single submitter NOTCH3-related disorder
  • p.Cys379Ser Single submitter depressive disorder
  • p.Cys395Arg Single submitter
  • p.Cys395Tyr Single submitter
  • p.Cys402Tyr Single submitter NOTCH3-related disorder
  • p.Cys435Ser Single submitter
  • p.Cys43Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys455Gly Single submitter
  • p.Cys466Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys478Ser Single submitter
  • p.Cys484Gly Single submitter transient ischemic attack
  • p.Cys493Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys49Ser Single submitter
  • p.Cys504Gly Single submitter
  • p.Cys522Gly Single submitter NOTCH3-related disorder
  • p.Cys55Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys606Tyr Single submitter
  • p.Cys608Tyr Single submitter
  • p.Cys654Trp Single submitter
  • p.Cys681Tyr Single submitter NOTCH3-related disorder
  • p.Cys743Tyr Single submitter ⚠
  • p.Cys82Tyr Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Cys853Arg Single submitter
  • p.Cys901Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys939Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys959Ser Single submitter
  • p.Cys977Arg Single submitter
  • p.Gln77_Cys82del Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Glu990_Ser991delinsAspCys Single submitter
  • p.Gly1105Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly1301fs Single submitter
  • p.Gly171_Ala202delinsGlu Single submitter
  • p.Gly210Asp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly406Cys Single submitter
  • p.Gly481Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly89Cys Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Leu1519Pro Single submitter myofibromatosis, infantile, 1
  • p.Pro2178fs Single submitter
  • p.Ser126Cys Single submitter
  • p.Ser1528fs Single submitter lateral meningocele syndrome
  • p.Ser2100Ter Single submitter
  • p.Ser2229fs Single submitter NOTCH3-related disorder
  • p.Ser968Ter Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Tyr189Asp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Tyr574_Glu585delinsLeu Single submitter
  • p.Val2202fs Single submitter NOTCH3-related disorder
  • p.Val237Leu Single submitter auditory neuropathy ⚠
  • p.Arg1036Ter No assertion criteria NOTCH3-related disorder
  • p.Cys128Arg No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys155Gly No assertion criteria cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Cys185Trp No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys388Arg No assertion criteria Abnormal cerebral white matter morphology
  • p.Cys709Tyr No assertion criteria Progressive psychomotor deterioration
  • p.Gln57Ter No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Conflicting classifications of pathogenicity 222

  • c.1036+10C>T Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.118+19G>T Single submitter
  • c.197+8C>T Single submitter
  • c.3718+6C>T Single submitter
  • c.3719-4T>C Single submitter
  • c.*3C>T Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala1057Val Single submitter ⚠
  • p.Ala1342Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala1445Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1882= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala1927Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ala2070Val Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ala2146Val Single submitter ⚠
  • p.Ala2190Val Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ala284Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ala40= Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • p.Ala459Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ala564Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala625Thr Single submitter ⚠
  • p.Ala64Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala737Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1014Cys Single submitter ⚠
  • p.Arg1014His Single submitter ⚠
  • p.Arg1036Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1050Trp Single submitter ⚠
  • p.Arg1076His Single submitter lateral meningocele syndrome ⚠
  • p.Arg1100Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg110His Single submitter ⚠
  • p.Arg1143Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg1190His Single submitter ⚠
  • p.Arg1210Cys Single submitter ⚠
  • p.Arg1210His Single submitter Inborn genetic diseases ⚠
  • p.Arg1220Gln Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg1231Cys Single submitter Adult onset dystonia, chorea or related movement disorder ⚠
  • p.Arg1242His Single submitter ⚠
  • p.Arg1262Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg153His Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg163Gln Single submitter ⚠
  • p.Arg163Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg169His Single submitter ⚠
  • p.Arg182His Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg1834Gln Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg1851His Single submitter ⚠
  • p.Arg1857Gln Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg1857Trp Single submitter ⚠
  • p.Arg1873His Single submitter Inborn genetic diseases ⚠
  • p.Arg1893Ter Single submitter
  • p.Arg1902Cys Single submitter ⚠
  • p.Arg1981His Single submitter Inborn genetic diseases ⚠
  • p.Arg1998Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg2031Cys Single submitter ⚠
  • p.Arg2031His Single submitter ⚠
  • p.Arg2078Gln Single submitter ⚠
  • p.Arg2080Gln Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg2080Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg2109Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg2174Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg2207Gln Single submitter lateral meningocele syndrome ⚠
  • p.Arg2207Trp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg2234His Single submitter Inborn genetic diseases ⚠
  • p.Arg374Gln Single submitter ⚠
  • p.Arg449Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg487Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg558His Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg587Cys Single submitter lateral meningocele syndrome ⚠
  • p.Arg592Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg635Cys Single submitter
  • p.Arg640Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg640His Single submitter ⚠
  • p.Arg680Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg717Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg728Cys Single submitter NOTCH3-related disorder ⚠
  • p.Arg728His Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg75Gln Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg785Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg90His Single submitter ⚠
  • p.Asn1118Tyr Single submitter ⚠
  • p.Asn1468= Single submitter Inborn genetic diseases
  • p.Asn236= Single submitter Inborn genetic diseases
  • p.Asn489Ser Single submitter ⚠
  • p.Asn489Thr Single submitter familial partial lipodystrophy, Kobberling type ⚠
  • p.Asp158Asn Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Asp1774Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp2171Asn Single submitter ⚠
  • p.Asp552Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Asp752Asn Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Asp80Gly Single submitter lateral meningocele syndrome ⚠
  • p.Cys1022Ser Single submitter ⚠
  • p.Cys1040= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1119Tyr Single submitter ⚠
  • p.Cys1137Arg Single submitter ⚠
  • p.Cys117= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Cys1222Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys1232Trp Single submitter ⚠
  • p.Cys1261Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys1298Phe Single submitter ⚠
  • p.Cys1315Tyr Single submitter ⚠
  • p.Cys1324Ser Single submitter myofibromatosis, infantile, 2 ⚠
  • p.Cys168Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys240Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys300= Single submitter
  • p.Cys311Gly Single submitter ⚠
  • p.Cys318Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys417Trp Single submitter Inborn genetic diseases ⚠
  • p.Cys419Arg Single submitter ⚠
  • p.Cys435Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys435Trp Single submitter ⚠
  • p.Cys435Tyr Single submitter ⚠
  • p.Cys455Ser Single submitter ⚠
  • p.Cys455Tyr Single submitter ⚠
  • p.Cys457Arg Single submitter ⚠
  • p.Cys504Trp Single submitter ⚠
  • p.Cys511Ser Single submitter ⚠
  • p.Cys511Tyr Single submitter ⚠
  • p.Cys522Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys522Trp Single submitter cerebral arteriopathy with subcortical infarcts and leukoencephalopathy ⚠
  • p.Cys559Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys586Arg Single submitter ⚠
  • p.Cys597Ser Single submitter NOTCH3-related disorder ⚠
  • p.Cys617Arg Single submitter ⚠
  • p.Cys624Tyr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Cys798Ter Single submitter
  • p.Cys82Gly Single submitter ⚠
  • p.Cys986Arg Single submitter NOTCH3-related disorder ⚠
  • p.Gln1253Pro Single submitter ⚠
  • p.Glu1576Asp Single submitter ⚠
  • p.Glu1638= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Glu2268Lys Single submitter ⚠
  • p.Glu472Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu787Lys Single submitter ⚠
  • p.Glu813Lys Single submitter ⚠
  • p.Gly1058Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly1097Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1135Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly1268Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1269Val Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly131Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly1321Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1347Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly1348= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly1839= Single submitter
  • p.Gly2035fs Single submitter
  • p.Gly2068fs Single submitter
  • p.Gly2112Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly2155Glu Single submitter ⚠
  • p.Gly248Ala Single submitter ⚠
  • p.Gly289Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly373Cys Single submitter ⚠
  • p.Gly490Ala Single submitter ⚠
  • p.Gly595Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Gly667Asp Single submitter ⚠
  • p.Gly667Cys Single submitter
  • p.Gly918Cys Single submitter Inborn genetic diseases ⚠
  • p.His1235Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.His2037= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ile658Thr Single submitter ⚠
  • p.Leu1543Met Single submitter
  • p.Leu1547Val Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Leu1647Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1976fs Single submitter
  • p.Leu2092= Single submitter
  • p.Leu295Arg Single submitter ⚠
  • p.Leu348= Single submitter
  • p.Leu925Val Single submitter Inborn genetic diseases ⚠
  • p.Lys1960Arg Single submitter Inborn genetic diseases ⚠
  • p.Met1663Val Single submitter Inborn genetic diseases ⚠
  • p.Met1707Val Single submitter Inborn genetic diseases ⚠
  • p.Met1967Thr Single submitter ⚠
  • p.Phe1189Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro120Leu Single submitter myofibromatosis, infantile, 2 ⚠
  • p.Pro1280Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro1357= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2033Ala Single submitter ⚠
  • p.Pro2089= Single submitter
  • p.Pro21= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2126= Single submitter
  • p.Pro2143= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2178Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Pro2201= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2204Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro2309Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro2311Leu Single submitter ⚠
  • p.Pro3Leu Single submitter ⚠
  • p.Pro551Ser Single submitter ⚠
  • p.Pro684Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Pro685Thr Single submitter ⚠
  • p.Pro68Leu Single submitter NOTCH3-related disorder ⚠
  • p.Pro695Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro774Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro817Leu Single submitter ⚠
  • p.Pro882Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro913Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Pro965Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser1349Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser299Cys Single submitter ⚠
  • p.Ser476Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ser492Cys Single submitter
  • p.Ser500= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ser773= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ser863= Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ser931Cys Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ser95Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Ser978Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Thr1192Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr2085= Single submitter
  • p.Thr2284Ser Single submitter ⚠
  • p.Thr272Met Single submitter Inborn genetic diseases ⚠
  • p.Thr577Ala Single submitter ⚠
  • p.Thr987Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Trp1028Cys Single submitter ⚠
  • p.Tyr1069Cys Single submitter NOTCH3-related disorder ⚠
  • p.Tyr2211Cys Single submitter ⚠
  • p.Tyr2211Ter Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Val2021Met Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Val252Met Single submitter NOTCH3-related disorder ⚠
  • p.Val523Met Single submitter Inborn genetic diseases ⚠
  • p.Val560Met Single submitter ⚠
  • p.Val583= Single submitter
  • p.Val644Asp Single submitter ⚠
  • p.Val656Met Single submitter Inborn genetic diseases ⚠
  • p.Val976Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser299= No assertion criteria NOTCH3-related disorder

Benign 100

Benign/Likely benign 113

  • c.1037-19del Multiple submitters
  • c.1037-20T>G Multiple submitters
  • c.1193-20G>A Multiple submitters
  • c.1493-8C>T Multiple submitters
  • c.1607-14T>C Multiple submitters
  • c.1607-5C>A Multiple submitters
  • c.1840+8C>T Multiple submitters
  • c.1952-11G>T Multiple submitters
  • c.1952-23G>A Multiple submitters
  • c.197+24C>G Multiple submitters
  • c.2411-11C>A Multiple submitters
  • c.2411-4C>G Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.2566+24G>T Multiple submitters
  • c.2995-6C>T Multiple submitters
  • c.3328-8C>A Multiple submitters myofibromatosis, infantile, 2
  • c.340+14A>G Multiple submitters
  • c.3461-15C>T Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.3718+13G>T Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.3719-11C>T Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.4736+9dup Multiple submitters
  • c.4737-19C>T Multiple submitters
  • c.5114+10C>G Multiple submitters
  • c.5200-4C>A Multiple submitters
  • c.5668-11C>T Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.5668-9C>G Multiple submitters
  • c.5914-10G>C Multiple submitters
  • c.*23T>A Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • c.*4G>A Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala1020Pro Multiple submitters myofibromatosis, infantile, 2
  • p.Ala1450Thr Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala1775Thr Multiple submitters
  • p.Ala1842= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala1979= Multiple submitters
  • p.Ala198Val Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala2146= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala321= Multiple submitters
  • p.Ala564= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ala734= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg1100His Multiple submitters
  • p.Arg113Gln Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg1175Trp Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg1220Trp Multiple submitters
  • p.Arg1351= Multiple submitters
  • p.Arg1560Pro Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg1837His Multiple submitters
  • p.Arg1893Gln Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Arg1981= Multiple submitters
  • p.Arg587His Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Arg680His Multiple submitters lateral meningocele syndrome
  • p.Arg75Trp Multiple submitters ⚠
  • p.Arg767His Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Asn545= Multiple submitters
  • p.Asn860= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Asn894= Multiple submitters
  • p.Asp1485= Multiple submitters
  • p.Asp1598Val Multiple submitters
  • p.Asp353= Multiple submitters
  • p.Asp45= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Asp509= Multiple submitters
  • p.Asp547= Multiple submitters
  • p.Cys144= Multiple submitters
  • p.Cys1458= Multiple submitters
  • p.Cys559= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Glu618= Multiple submitters
  • p.Glu721= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly1105Ala Multiple submitters
  • p.Gly1710Asp Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly179Val Multiple submitters
  • p.Gly2079= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly2218= Multiple submitters
  • p.Gly398= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Gly498= Multiple submitters
  • p.Gly594= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.His1133Gln Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.His170Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ile315= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Leu1518Met Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Leu2004= Multiple submitters
  • p.Lys1965= Multiple submitters
  • p.Phe1790= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Phe908= Multiple submitters
  • p.Pro1449= Multiple submitters
  • p.Pro1625= Multiple submitters
  • p.Pro1792= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro197= Multiple submitters
  • p.Pro2008= Multiple submitters
  • p.Pro2074= Multiple submitters
  • p.Pro2074Leu Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro2108= Multiple submitters
  • p.Pro2191= Multiple submitters
  • p.Pro2222= Multiple submitters
  • p.Pro36= Multiple submitters
  • p.Pro380= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro496Leu Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Pro68= Multiple submitters
  • p.Pro684= Multiple submitters
  • p.Pro761Leu Multiple submitters
  • p.Ser2100= Multiple submitters
  • p.Ser2251= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Ser497Leu Multiple submitters Cerebral small vessel disease
  • p.Ser725= Multiple submitters
  • p.Ser945= Multiple submitters
  • p.Thr2270Met Multiple submitters myofibromatosis, infantile, 2
  • p.Thr575= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Thr836Ile Multiple submitters
  • p.Tyr220= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Val1183Met Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Val1762Met Multiple submitters
  • p.Val1952Met Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ⚠
  • p.Val2011Ile Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • p.Val2168= Multiple submitters
  • p.Val237Met Multiple submitters ⚠
  • p.Val275= Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Likely benign 471

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 868

Showing the top 300 by review status; the full set is in the sitemap.