KRIT1 — 800 ClinVar variants

All ClinVar germline KRIT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →

233 Pathogenic · 34 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 30 Conflicting · 24 Benign · 25 Benign/Likely benign · 108 Likely benign · 278 Uncertain significance

Full KRIT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 214

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 2

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

KRIT1 p.Gln201Glu Pathogenic Multiple submitters
KRIT1-related disorder
KRIT1 p.Lys675Asn Likely pathogenic Single submitter
cerebral cavernous malformation

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

KRIT1 p.Ala648Val Conflicting Single submitter
KRIT1-related disorder
KRIT1 p.Arg16Pro Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Arg338Cys Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Arg623His Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Asn663Ser Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Gly101Arg Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Leu355Phe Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Lys682Gln Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Met702Val Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Pro98Ser Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Thr197Ala Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Thr380Met Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Thr462Ala Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Val587Ile Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Val718Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 137

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

KRIT1 p.Ala648Thr Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Arg167Cys Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Arg167His Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Arg306His Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Asn403Ser Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Asn599Ser Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Cys129Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Gln316Arg Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Gln316Pro Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Glu534Lys Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Gly299Glu Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.His326Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Leu164Ser Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Lys46Glu Uncertain significance Multiple submitters
angiokeratoma corporis diffusum with arteriovenous fistulas
KRIT1 p.Lys479Thr Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Met672Val Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Met730Thr Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Ser467Ala Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Ser592Thr Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Ser701Asn Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Thr151Ala Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Thr457Ala Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Val141Ile Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Val422Ile Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Val518Ala Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Val585Ile Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Ala10Gly Uncertain significance Single submitter
KRIT1 p.Ala150Val Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ala169Gly Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ala194Ser Uncertain significance Single submitter
KRIT1 p.Ala196Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ala221Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ala296Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ala82Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Arg106Gly Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Arg284Gln Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Arg306Leu Uncertain significance Single submitter
KRIT1 p.Arg338Ser Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Arg382Lys Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Arg390Gly Uncertain significance Single submitter
KRIT1 p.Arg423Gln Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Arg87Thr Uncertain significance Single submitter
KRIT1 p.Asn399Asp Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Asn61Ile Uncertain significance Single submitter
KRIT1 p.Asn735Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Asn83Lys Uncertain significance Single submitter
KRIT1 p.Asp486Asn Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Cys629Arg Uncertain significance Single submitter
KRIT1 p.Cys685Arg Uncertain significance Single submitter
KRIT1 p.Cys696Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gln239Lys Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Gln272Arg Uncertain significance Single submitter
KRIT1 p.Gln272His Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gln387Leu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gln45Glu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gln521His Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Gln573Glu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Gln59Arg Uncertain significance Single submitter
KRIT1 p.Glu302Asp Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Glu369Asp Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Glu406Gly Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Glu489Asp Uncertain significance Single submitter
KRIT1 p.Glu8Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gly200Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gly209Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gly366Arg Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Gly574Val Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Gly60Val Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gly636Val Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gly666Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.His383Arg Uncertain significance Single submitter
angiokeratoma corporis diffusum with arteriovenous fistulas
KRIT1 p.His38Tyr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.His668Asn Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.His668Tyr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ile131Val Uncertain significance Single submitter
KRIT1 p.Ile15Thr Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ile373Val Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ile384Val Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ile415Phe Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ile415Val Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ile463Leu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ile522Val Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ile552Val Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu135Phe Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Leu183Val Uncertain significance Single submitter
KRIT1 p.Leu304Pro Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu317Ser Uncertain significance Single submitter
KRIT1-related disorder
KRIT1 p.Leu374Pro Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu375Gln Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu602Phe Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Leu608Pro Uncertain significance Single submitter
KRIT1 p.Leu667Arg Uncertain significance Single submitter
KRIT1 p.Leu690Met Uncertain significance Single submitter
KRIT1 p.Leu99Gln Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Lys216Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Lys606Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Lys665Gln Uncertain significance Single submitter
KRIT1 p.Lys665Glu Uncertain significance Single submitter
KRIT1 p.Lys77Arg Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Met275Leu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Met275Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Met672Leu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Met687Ile Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Met706Val Uncertain significance Single submitter
KRIT1-related disorder
KRIT1 p.Met94Ile Uncertain significance Single submitter
KRIT1 p.Met94Val Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Pro175Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro175Leu Uncertain significance Single submitter
KRIT1 p.Pro291Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro378Leu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro41Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro515Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro515Ser Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Pro547Leu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro595Ser Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Pro650Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro657Leu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro78Gln Uncertain significance Single submitter
KRIT1 p.Ser181Pro Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ser211Gly Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ser309Gly Uncertain significance Single submitter
KRIT1 p.Ser313Leu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ser611Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Thr126Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Thr151Ile Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Thr337Ala Uncertain significance Single submitter
KRIT1 p.Thr443Ser Uncertain significance Single submitter
KRIT1 p.Thr553Ile Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Thr610Ile Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Trp688Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Tyr230Cys Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Tyr419Cys Uncertain significance Single submitter
KRIT1 p.Tyr566Asn Uncertain significance Single submitter
KRIT1 p.Val278Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Val334Ala Uncertain significance Single submitter
KRIT1 p.Val719Leu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Val72Ala Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 60

The independent predictors disagree with each other — read with care.

KRIT1 p.Ala555Val Pathogenic Multiple submitters
cerebral cavernous malformation
KRIT1 p.Arg179Gln Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Arg243Trp Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Arg485Cys Uncertain significance Multiple submitters
Inborn genetic diseases
KRIT1 p.Asp137Gly Likely pathogenic Multiple submitters
cerebral cavernous malformation
KRIT1 p.Asp161Gly Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Ile138Thr Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Ile42Thr Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Lys216Glu Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Tyr252Cys Uncertain significance Multiple submitters
cerebral cavernous malformation
KRIT1 p.Val658Met Uncertain significance Multiple submitters
KRIT1-related disorder
KRIT1 p.Ala407Gly Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Arg16Cys Conflicting Single submitter
angiokeratoma corporis diffusum with arteriovenous fistulas
KRIT1 p.Arg185Pro Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Arg185Trp Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Arg306Cys Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Arg452Cys Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Arg452Leu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Asn376Ile Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Cys346Ser Uncertain significance Single submitter
KRIT1 p.Gln446His Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Gln473His Likely benign Single submitter
cerebral cavernous malformation
KRIT1 p.Gly101Val Conflicting Single submitter
cerebral cavernous malformation
KRIT1 p.Gly235Arg Likely pathogenic Single submitter
cerebral cavernous malformation
KRIT1 p.Gly353Glu Uncertain significance Single submitter
KRIT1 p.His148Arg Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Ile174Asn Uncertain significance Single submitter
KRIT1 p.Ile447Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ile522Thr Uncertain significance Single submitter
vascular dementia
KRIT1 p.Ile530Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu233Phe Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu23Arg Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Leu410Phe Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu681Pro Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Lys18Glu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Lys31Met Uncertain significance Single submitter
KRIT1 p.Lys51Ile Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Lys591Glu Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Lys606Glu Uncertain significance Single submitter
KRIT1 p.Lys713Glu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Met139Thr Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro180His Uncertain significance Single submitter
KRIT1 p.Pro232Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro266Ser Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Pro348Leu Uncertain significance Single submitter
KRIT1 p.Pro392Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ser357Cys Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ser592Arg Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Ser609Asn Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Tyr431Cys Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Tyr544Cys Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Tyr563Cys Conflicting Single submitter
Inborn genetic diseases
KRIT1 p.Tyr563His Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Tyr566His Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Tyr605His Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Tyr659Cys Uncertain significance Single submitter
cerebral cavernous malformation
KRIT1 p.Val244Leu Likely pathogenic Single submitter
KRIT1 p.Val248Leu Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Val444Ala Uncertain significance Single submitter
Inborn genetic diseases
KRIT1 p.Leu238Phe Uncertain significance No assertion criteria
KRIT1-related disorder

All KRIT1 variants

Pathogenic 233

c.1146+1G>A Multiple submitters cerebral cavernous malformation
c.1146+1G>T Multiple submitters cerebral cavernous malformation
c.1147-13C>G Multiple submitters KRIT1-related disorder
c.1255-1_1256del Multiple submitters KRIT1-related disorder
c.1255-1G>A Multiple submitters KRIT1-related disorder
c.1255-2A>G Multiple submitters cerebral cavernous malformation
c.1412-2A>C Multiple submitters cerebral cavernous malformation
c.1563+1G>A Multiple submitters cerebral cavernous malformation
c.1564-1G>A Multiple submitters cerebral cavernous malformation
c.1731-2A>G Multiple submitters KRIT1-related disorder
c.486-1G>A Multiple submitters cerebral cavernous malformation
c.486-2A>G Multiple submitters cerebral cavernous malformation
c.730-1G>A Multiple submitters cerebral cavernous malformation
c.845+1G>A Multiple submitters cerebral cavernous malformation
p.Ala362fs Multiple submitters cerebral cavernous malformation
p.Ala555Val Multiple submitters cerebral cavernous malformation ⚠
p.Arg179Ter Multiple submitters KRIT1-related disorder
p.Arg423Ter Multiple submitters KRIT1-related disorder
p.Arg90Ter Multiple submitters famililal cerebral cavernous malformations
p.Asp281fs Multiple submitters cerebral cavernous malformation
p.Gln201Glu Multiple submitters KRIT1-related disorder ⚠
p.Gln401fs Multiple submitters famililal cerebral cavernous malformations
p.Gln401Ter Multiple submitters KRIT1-related disorder
p.Gln445Ter Multiple submitters KRIT1-related disorder
p.Gln446Ter Multiple submitters cerebral cavernous malformation
p.Gln455fs Multiple submitters KRIT1-related disorder
p.Gln455Ter Multiple submitters KRIT1-related disorder
p.Gln505Ter Multiple submitters cerebral cavernous malformation
p.Gln66Ter Multiple submitters KRIT1-related disorder
p.Gln698Ter Multiple submitters cerebral cavernous malformation
p.Gln84Ter Multiple submitters KRIT1-related disorder
p.Glu369fs Multiple submitters cerebral cavernous malformation
p.Glu567_Ser568insTer Multiple submitters cerebral cavernous malformation
p.Glu617Ter Multiple submitters
p.His603fs Multiple submitters cerebral cavernous malformation
p.His653fs Multiple submitters cerebral cavernous malformation
p.Ile463fs Multiple submitters cerebral cavernous malformation
p.Ile584fs Multiple submitters cerebral cavernous malformation
p.Ile656fs Multiple submitters
p.Leu233fs Multiple submitters KRIT1-related disorder
p.Leu436fs Multiple submitters cerebral cavernous malformation
p.Lys216fs Multiple submitters cerebral cavernous malformation
p.Lys51fs Multiple submitters cerebral cavernous malformation 1
p.Lys570fs Multiple submitters cerebral cavernous malformation
p.Lys589Ter Multiple submitters cerebral cavernous malformation
p.Phe234fs Multiple submitters cerebral cavernous malformation
p.Ser199Ter Multiple submitters KRIT1-related disorder
p.Ser301Ter Multiple submitters cavernous hemangioma
p.Ser313fs Multiple submitters cerebral cavernous malformation
p.Ser430Ter Multiple submitters KRIT1-related disorder
p.Ser467Ter Multiple submitters cerebral cavernous malformation
p.Ser592fs Multiple submitters cerebral cavernous malformation
p.Ser707fs Multiple submitters cerebral cavernous malformation
p.Thr227fs Multiple submitters
p.Trp464Ter Multiple submitters cerebral cavernous malformation
p.Trp597Ter Multiple submitters cerebral cavernous malformation
p.Trp630Ter Multiple submitters cerebral cavernous malformation
p.Trp688Ter Multiple submitters cerebral cavernous malformation
p.Tyr133fs Multiple submitters cerebral cavernous malformation
p.Tyr635Ter Multiple submitters KRIT1-related disorder
p.Val334fs Multiple submitters cerebral cavernous malformation
c.102+1G>A Single submitter cerebral cavernous malformation
c.103-1G>T Single submitter KRIT1-related disorder
c.1412-1G>A Single submitter KRIT1-related disorder
c.1412-1G>T Single submitter cerebral cavernous malformation
c.1412-2A>G Single submitter KRIT1-related disorder
c.1730+1G>A Single submitter cerebral cavernous malformation
c.1819-1G>A Single submitter cerebral cavernous malformation
c.2025+1G>T Single submitter cerebral cavernous malformation
c.2026-1G>C Single submitter cerebral cavernous malformation
c.2084_2142+81del Single submitter cerebral cavernous malformation
c.2142+1G>C Single submitter cerebral cavernous malformation
c.2143-1G>A Single submitter cerebral cavernous malformation
c.2143-2A>T Single submitter cerebral cavernous malformation
c.486-1G>T Single submitter cerebral cavernous malformation
c.486-2A>T Single submitter cerebral cavernous malformation
c.729+1G>T Single submitter cerebral cavernous malformation
c.729+2T>C Single submitter cerebral cavernous malformation
c.729+2T>G Single submitter cerebral cavernous malformation
c.730-2A>G Single submitter cerebral cavernous malformation
p.Ala159fs Single submitter cerebral cavernous malformation
p.Ala363fs Single submitter cerebral cavernous malformation
p.Arg294Ter Single submitter cerebral cavernous malformation
p.Arg311_Phe312insTer Single submitter cerebral cavernous malformation
p.Arg382fs Single submitter cerebral cavernous malformation
p.Arg452fs Single submitter
p.Arg49fs Single submitter cerebral cavernous malformation
p.Arg513fs Single submitter
p.Arg536fs Single submitter
p.Arg623fs Single submitter cerebral cavernous malformation
p.Asn250fs Single submitter cerebral cavernous malformation
p.Asn496fs Single submitter
p.Asn599fs Single submitter cerebral cavernous malformation
p.Asp245fs Single submitter cerebral cavernous malformation
p.Asp259fs Single submitter cerebral cavernous malformation
p.Asp318fs Single submitter cerebral cavernous malformation 1
p.Asp428fs Single submitter cerebral cavernous malformation
p.Asp694fs Single submitter cerebral cavernous malformation
p.Asp70fs Single submitter cerebral cavernous malformation
p.Cys142fs Single submitter cerebral cavernous malformation
p.Cys297Ter Single submitter cerebral cavernous malformation
p.Cys629fs Single submitter KRIT1-related disorder
p.Gln136Ter Single submitter cerebral cavernous malformation
p.Gln170Ter Single submitter cerebral cavernous malformation
p.Gln201Ter Single submitter cerebral cavernous malformation
p.Gln239fs Single submitter cerebral cavernous malformation
p.Gln264fs Single submitter cerebral cavernous malformation
p.Gln272fs Single submitter cerebral cavernous malformation
p.Gln316fs Single submitter cerebral cavernous malformation
p.Gln372fs Single submitter cerebral cavernous malformation
p.Gln387Ter Single submitter cerebral cavernous malformation
p.Gln388Ter Single submitter cerebral cavernous malformation
p.Gln458fs Single submitter cerebral cavernous malformation
p.Gln473Ter Single submitter cerebral cavernous malformation
p.Gln482Ter Single submitter cerebral cavernous malformation
p.Gln500Ter Single submitter cerebral cavernous malformation
p.Gln627fs Single submitter cerebral cavernous malformation
p.Gln627Ter Single submitter cerebral cavernous malformation
p.Gln643fs Single submitter cerebral cavernous malformation
p.Gln66fs Single submitter KRIT1-related disorder
p.Gln689Ter Single submitter cerebral cavernous malformation
p.Glu283Ter Single submitter cerebral cavernous malformation
p.Glu342fs Single submitter cerebral cavernous malformation
p.Glu379Ter Single submitter cerebral cavernous malformation
p.Glu398fs Single submitter
p.Glu406fs Single submitter cerebral cavernous malformation
p.Glu413Ter Single submitter cerebral cavernous malformation
p.Glu420fs Single submitter cerebral cavernous malformation
p.Glu449fs Single submitter cerebral cavernous malformation
p.Glu517Ter Single submitter cerebral cavernous malformation
p.Glu534Ter Single submitter cerebral cavernous malformation
p.Glu578Ter Single submitter cerebral cavernous malformation
p.Glu604Ter Single submitter cerebral cavernous malformation
p.Gly128Ter Single submitter cerebral cavernous malformation
p.Gly344fs Single submitter
p.Gly366fs Single submitter cerebral cavernous malformation
p.Gly439Ter Single submitter
p.Gly450fs Single submitter Paediatric disorders
p.Gly661Ter Single submitter cerebral cavernous malformation
p.Gly85fs Single submitter cerebral cavernous malformation
p.His293fs Single submitter cerebral cavernous malformation
p.His367fs Single submitter cerebral cavernous malformation
p.His383_Ile384insTer Single submitter cerebral cavernous malformation
p.His483delinsLeuGlnThrIleSerTer Single submitter cerebral cavernous malformation
p.His483fs Single submitter cerebral cavernous malformation
p.His571fs Single submitter cerebral cavernous malformation
p.His619fs Single submitter cerebral cavernous malformation
p.His620fs Single submitter cerebral cavernous malformation
p.Ile191fs Single submitter cerebral cavernous malformation
p.Ile263fs Single submitter cerebral cavernous malformation
p.Ile325fs Single submitter cerebral cavernous malformation
p.Ile384fs Single submitter
p.Ile42fs Single submitter cerebral cavernous malformation
p.Ile709fs Single submitter cerebral cavernous malformation
p.Leu135Ter Single submitter cerebral cavernous malformation
p.Leu220fs Single submitter cerebral cavernous malformation
p.Leu292fs Single submitter cerebral cavernous malformation
p.Leu303fs Single submitter
p.Leu350fs Single submitter Inborn genetic diseases
p.Leu351Ter Single submitter cerebral cavernous malformation
p.Leu393fs Single submitter cerebral cavernous malformation
p.Leu516fs Single submitter cerebral cavernous malformation
p.Leu539Ter Single submitter cerebral cavernous malformation
p.Leu53fs Single submitter cerebral cavernous malformation
p.Leu540fs Single submitter cerebral cavernous malformation
p.Leu608fs Single submitter
p.Leu626Ter Single submitter cerebral cavernous malformation
p.Leu677fs Single submitter cerebral cavernous malformation
p.Leu677Ter Single submitter cerebral cavernous malformation
p.Leu69Ter Single submitter cerebral cavernous malformation
p.Lys218delinsSerSerArgLeuTer Single submitter cerebral cavernous malformation
p.Lys343Ter Single submitter cerebral cavernous malformation
p.Lys417Ter Single submitter cerebral cavernous malformation
p.Lys421Ter Single submitter cerebral cavernous malformation
p.Lys475Ter Single submitter cerebral cavernous malformation
p.Lys479fs Single submitter cerebral cavernous malformation
p.Lys48Ter Single submitter cerebral cavernous malformation
p.Lys520Ter Single submitter cerebral cavernous malformation
p.Lys569Ter Single submitter cerebral cavernous malformation
p.Lys606fs Single submitter cerebral cavernous malformation
p.Lys675fs Single submitter cerebral cavernous malformation
p.Lys675Ter Single submitter cerebral cavernous malformation
p.Lys682Ter Single submitter cerebral cavernous malformation
p.Lys705Ter Single submitter cerebral cavernous malformation
p.Met275fs Single submitter cerebral cavernous malformation
p.Met448fs Single submitter cerebral cavernous malformation
p.Met624_Phe625insTer Single submitter
p.Phe532fs Single submitter cerebral cavernous malformation
p.Phe640_Thr641insPhePhePhePhePhePheXaaXaaXaaXaaTrpValHisAlaIleLeuLeuProGlnProProGluTer Single submitter cerebral cavernous malformation
p.Phe645fs Single submitter cerebral cavernous malformation
p.Phe686fs Single submitter cerebral cavernous malformation
p.Phe708Ter Single submitter cerebral cavernous malformation
p.Pro232fs Single submitter cerebral cavernous malformation
p.Ser217fs Single submitter cerebral cavernous malformation
p.Ser236Ter Single submitter cerebral cavernous malformation
p.Ser261Ter Single submitter cerebral cavernous malformation
p.Ser433fs Single submitter cerebral cavernous malformation
p.Ser583fs Single submitter cerebral cavernous malformation
p.Ser62fs Single submitter cerebral cavernous malformation
p.Ser680fs Single submitter cerebral cavernous malformation
p.Ser701fs Single submitter cerebral cavernous malformation
p.Thr553fs Single submitter
p.Thr588fs Single submitter
p.Thr646fs Single submitter cerebral cavernous malformation
p.Trp271fs Single submitter cerebral cavernous malformation
p.Trp286Ter Single submitter cerebral cavernous malformation 1
p.Trp330Ter Single submitter cerebral cavernous malformation
p.Trp404Ter Single submitter cerebral cavernous malformation
p.Tyr210Ter Single submitter cerebral cavernous malformation
p.Tyr230Ter Single submitter
p.Tyr260Ter Single submitter cerebral cavernous malformation
p.Tyr327fs Single submitter cerebral cavernous malformation
p.Tyr419fs Single submitter cerebral cavernous malformation
p.Tyr537Ter Single submitter cerebral cavernous malformation
p.Tyr563fs Single submitter
p.Tyr605Ter Single submitter
p.Tyr635fs Single submitter cerebral cavernous malformation
p.Tyr659fs Single submitter
p.Tyr683Ter Single submitter cerebral cavernous malformation
p.Val278fs Single submitter KRIT1-related disorder
p.Val422fs Single submitter cerebral cavernous malformation
p.Val562fs Single submitter cerebral cavernous malformation
p.Val658fs Single submitter
c.1412-1G>C No assertion criteria
c.845+2T>C No assertion criteria cerebral cavernous malformation
p.Asn607fs No assertion criteria cerebral cavernous malformation
p.Cys329Ter No assertion criteria cerebral cavernous malformation 1
p.Gly389fs No assertion criteria
p.Leu531_Phe532insTer No assertion criteria KRIT1-related disorder
p.Lys647fs No assertion criteria cerebral cavernous malformation 1
p.Ser430fs No assertion criteria
p.Thr188fs No assertion criteria KRIT1-related disorder
p.Tyr331Cys No assertion criteria cerebral cavernous malformation

Pathogenic/Likely pathogenic 34

c.1147-2A>G Multiple submitters KRIT1-related disorder
c.1730+3A>C Multiple submitters cerebral cavernous malformation
c.1730+4_1730+7del Multiple submitters KRIT1-related disorder
c.1730+5G>A Multiple submitters KRIT1-related disorder
c.1818+1G>A Multiple submitters KRIT1-related disorder
c.2025+1G>A Multiple submitters cerebral cavernous malformation
c.2025+2T>C Multiple submitters cerebral cavernous malformation
c.2026-12A>G Multiple submitters cerebral cavernous malformation
c.729+1G>A Multiple submitters cerebral cavernous malformation
c.730-1G>C Multiple submitters cerebral cavernous malformation
c.845+2T>A Multiple submitters cerebral cavernous malformation
p.Ala225fs Multiple submitters cerebral cavernous malformation
p.Arg140Ter Multiple submitters KRIT1-related disorder
p.Arg284Ter Multiple submitters
p.Arg510fs Multiple submitters KRIT1-related disorder
p.Asn402fs Multiple submitters KRIT1-related disorder
p.Asn580fs Multiple submitters cerebral cavernous malformation
p.Gln239Ter Multiple submitters cerebral cavernous malformation
p.Gln268Ter Multiple submitters cerebral cavernous malformation
p.Gln372Ter Multiple submitters cerebral cavernous malformation
p.Gln458Ter Multiple submitters cerebral cavernous malformation
p.Gln521Ter Multiple submitters cerebral cavernous malformation
p.Gln573fs Multiple submitters cerebral cavernous malformation
p.Gln643Ter Multiple submitters cerebral cavernous malformation
p.Glu413fs Multiple submitters
p.His326fs Multiple submitters cerebral cavernous malformation
p.Leu558fs Multiple submitters cerebral cavernous malformation
p.Lys216Ter Multiple submitters cerebral cavernous malformation
p.Lys48fs Multiple submitters KRIT1-related disorder
p.Lys682fs Multiple submitters cerebral cavernous malformation
p.Met1Val Multiple submitters cerebral cavernous malformation
p.Pro418fs Multiple submitters cerebral cavernous malformation
p.Trp271Ter Multiple submitters KRIT1-related disorder
p.Trp286_Val287insTer Multiple submitters KRIT1-related disorder

Likely pathogenic 68

c.990-1G>A Multiple submitters KRIT1-related disorder
p.Asp137Gly Multiple submitters cerebral cavernous malformation ⚠
p.Trp163Ter Multiple submitters KRIT1-related disorder
c.103-1G>A Single submitter KRIT1-related disorder
c.1146+1G>C Single submitter
c.1146+3_1146+4del Single submitter
c.1146+4_1146+8del Single submitter
c.1255-2A>C Single submitter KRIT1-related disorder
c.1411+1G>A Single submitter cerebral cavernous malformation
c.1564-2A>C Single submitter KRIT1-related disorder
c.1564-2A>T Single submitter cerebral cavernous malformation
c.1721_1730+5del Single submitter cerebral cavernous malformation
c.1730+2T>G Single submitter KRIT1-related disorder
c.2142+2dup Single submitter
c.2143-1G>C Single submitter
c.729+5G>C Single submitter cerebral cavernous malformation
p.Ala196fs Single submitter
p.Ala212fs Single submitter KRIT1-related disorder
p.Ala492fs Single submitter
p.Ala527Thr Single submitter
p.Arg536Ter Single submitter KRIT1-related disorder
p.Asn399fs Single submitter KRIT1-related disorder
p.Asn469fs Single submitter
p.Asn663fs Single submitter KRIT1-related disorder
p.Asp161fs Single submitter
p.Gln285Ter Single submitter
p.Gln714Ter Single submitter
p.Gln84fs Single submitter
p.Glu493Ter Single submitter
p.Glu517fs Single submitter
p.Glu631fs Single submitter KRIT1-related disorder
p.Gly235Arg Single submitter cerebral cavernous malformation ⚠
p.His321fs Single submitter KRIT1-related disorder
p.Leu160Ter Single submitter cerebral cavernous malformation
p.Leu177fs Single submitter KRIT1-related disorder
p.Leu317fs Single submitter
p.Leu393Ter Single submitter
p.Leu491fs Single submitter
p.Lys122fs Single submitter
p.Lys421fs Single submitter
p.Lys475fs Single submitter
p.Lys550Ter Single submitter cerebral cavernous malformation
p.Lys654fs Single submitter cerebral cavernous malformation
p.Lys675Asn Single submitter cerebral cavernous malformation ⚠
p.Lys713fs Single submitter
p.Met219fs Single submitter KRIT1-related disorder
p.Phe507fs Single submitter cerebral cavernous malformation
p.Phe97fs Single submitter KRIT1-related disorder
p.Pro488fs Single submitter cerebral cavernous malformation
p.Pro525fs Single submitter cerebral cavernous malformation
p.Pro586fs Single submitter
p.Pro633fs Single submitter
p.Ser454fs Single submitter Abnormal cerebral vascular morphology
p.Ser556fs Single submitter
p.Thr462fs Single submitter KRIT1-related disorder
p.Thr693fs Single submitter KRIT1-related disorder
p.Thr695fs Single submitter KRIT1-related disorder
p.Thr712fs Single submitter cerebral cavernous malformation
p.Tyr327Ter Single submitter cerebral cavernous malformation
p.Tyr544fs Single submitter cerebral cavernous malformation
p.Tyr659Ter Single submitter KRIT1-related disorder
p.Val244Leu Single submitter ⚠
p.Val655fs Single submitter KRIT1-related disorder
p.Val655Ter Single submitter
p.Asn440fs No assertion criteria KRIT1-related disorder
p.Gln622fs No assertion criteria KRIT1-related disorder
p.Gly299fs No assertion criteria cerebral cavernous malformation
p.Ser467Leu No assertion criteria cerebral cavernous malformation

Conflicting classifications of pathogenicity 30

c.1731-3C>A Single submitter cerebral cavernous malformation
c.845+10C>G Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.846-15C>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*132T>G Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*137del Single submitter cerebral cavernous malformation
c.*46G>A Single submitter cerebral cavernous malformation
p.Ala648Val Single submitter KRIT1-related disorder ⚠
p.Arg16Cys Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas ⚠
p.Arg16Pro Single submitter cerebral cavernous malformation ⚠
p.Arg306Cys Single submitter cerebral cavernous malformation ⚠
p.Arg338Cys Single submitter Inborn genetic diseases ⚠
p.Arg623His Single submitter cerebral cavernous malformation ⚠
p.Asn663Ser Single submitter cerebral cavernous malformation ⚠
p.Gln459= Single submitter cerebral cavernous malformation
p.Gln482= Single submitter cerebral cavernous malformation
p.Gly101Arg Single submitter cerebral cavernous malformation ⚠
p.Gly101Val Single submitter cerebral cavernous malformation ⚠
p.Gly88= Single submitter Inborn genetic diseases
p.Leu355Phe Single submitter cerebral cavernous malformation ⚠
p.Leu690= Single submitter cerebral cavernous malformation
p.Lys682Gln Single submitter Inborn genetic diseases ⚠
p.Met702Val Single submitter Inborn genetic diseases ⚠
p.Pro98Ser Single submitter Inborn genetic diseases ⚠
p.Thr197Ala Single submitter Inborn genetic diseases ⚠
p.Thr380Met Single submitter cerebral cavernous malformation ⚠
p.Thr462Ala Single submitter cerebral cavernous malformation ⚠
p.Thr646= Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
p.Tyr563Cys Single submitter Inborn genetic diseases ⚠
p.Val587Ile Single submitter Inborn genetic diseases ⚠
p.Val718Met Single submitter Inborn genetic diseases ⚠

Benign 24

c.1818+146A>G Multiple submitters
c.485+65G>C Multiple submitters
c.730-93A>G Multiple submitters
c.989+63C>G Multiple submitters
c.-680G>A Multiple submitters cerebral cavernous malformation
c.-741C>T Multiple submitters cerebral cavernous malformation
c.*1385A>G Multiple submitters cerebral cavernous malformation
c.*141C>T Multiple submitters cerebral cavernous malformation
c.*272G>A Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas
c.*320C>T Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas
p.Val660= Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas
c.1147-20dup Single submitter cerebral cavernous malformation
c.1254+17T>C Single submitter cerebral cavernous malformation
c.1255-296del Single submitter
c.1411+181G>A Single submitter
c.1564-316A>T Single submitter
c.262+133A>G Single submitter cerebral cavernous malformation
c.262+68A>G Single submitter
c.486-193T>C Single submitter
c.729+240G>T Single submitter
c.-525G>T Single submitter cerebral cavernous malformation
c.*1335T>C Single submitter cerebral cavernous malformation
c.*1444T>G Single submitter cerebral cavernous malformation
c.*1702A>G Single submitter cerebral cavernous malformation

Benign/Likely benign 25

c.1146+8A>T Multiple submitters cerebral cavernous malformation
c.1412-9G>A Multiple submitters cerebral cavernous malformation
c.1819-12G>C Multiple submitters cerebral cavernous malformation
c.845+10C>T Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas
c.846-5dup Multiple submitters cerebral cavernous malformation
c.-2-7T>C Multiple submitters cerebral cavernous malformation
c.-356G>A Multiple submitters cerebral cavernous malformation
c.-701C>T Multiple submitters cerebral cavernous malformation
c.*1363T>G Multiple submitters cerebral cavernous malformation
p.Ala414= Multiple submitters cerebral cavernous malformation
p.Ala594= Multiple submitters Inborn genetic diseases
p.Arg26Gln Multiple submitters cerebral cavernous malformation
p.Gly365= Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas
p.His148= Multiple submitters cerebral cavernous malformation
p.His603= Multiple submitters Inborn genetic diseases
p.Ile415Met Multiple submitters Inborn genetic diseases
p.Lys682= Multiple submitters Inborn genetic diseases
p.Thr380= Multiple submitters Inborn genetic diseases
p.Thr695= Multiple submitters cerebral cavernous malformation
c.-312A>G Single submitter cerebral cavernous malformation
c.-43C>T Single submitter cerebral cavernous malformation
c.*1530T>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*1750C>T Single submitter cerebral cavernous malformation
c.*234G>A Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*57G>A Single submitter cerebral cavernous malformation

Likely benign 108

c.1254+16A>G Multiple submitters cerebral cavernous malformation
c.1411+20_1411+24del Multiple submitters cerebral cavernous malformation
c.485+13G>T Multiple submitters cerebral cavernous malformation
c.486-37C>G Multiple submitters
c.730-16dup Multiple submitters cerebral cavernous malformation
p.Ala196Gly Multiple submitters Inborn genetic diseases
p.Ala638= Multiple submitters cerebral cavernous malformation
p.Arg452His Multiple submitters cerebral cavernous malformation
p.Asn204= Multiple submitters Inborn genetic diseases
p.Gln170= Multiple submitters Inborn genetic diseases
p.Gln473= Multiple submitters cerebral cavernous malformation
p.Ile584= Multiple submitters Inborn genetic diseases
p.Ile79Val Multiple submitters Inborn genetic diseases
p.Pro175= Multiple submitters cerebral cavernous malformation
p.Pro378= Multiple submitters cerebral cavernous malformation
p.Ser736Leu Multiple submitters cerebral cavernous malformation
p.Thr442= Multiple submitters Inborn genetic diseases
p.Thr56= Multiple submitters Inborn genetic diseases
p.Tyr563= Multiple submitters Inborn genetic diseases
p.Val444= Multiple submitters Inborn genetic diseases
c.103-7A>T Single submitter cerebral cavernous malformation
c.103-8C>T Single submitter cerebral cavernous malformation
c.1411+14T>C Single submitter cerebral cavernous malformation
c.1411+20G>A Single submitter cerebral cavernous malformation
c.1563+10G>A Single submitter
c.1730+14A>G Single submitter
c.1731-14A>C Single submitter cerebral cavernous malformation
c.2026-20del Single submitter cerebral cavernous malformation
c.262+142T>G Single submitter
c.355+29_355+30del Single submitter
c.485+12C>T Single submitter cerebral cavernous malformation
c.485+13G>A Single submitter cerebral cavernous malformation
c.729+8T>C Single submitter cerebral cavernous malformation
c.730-15G>C Single submitter
c.730-4del Single submitter cerebral cavernous malformation
c.845+9T>G Single submitter cerebral cavernous malformation
c.846-20A>T Single submitter cerebral cavernous malformation
c.989+7G>A Single submitter cerebral cavernous malformation
c.990-10T>G Single submitter cerebral cavernous malformation
c.990-18G>C Single submitter
c.990-19T>C Single submitter cerebral cavernous malformation
c.990-22GTTT[4] Single submitter cerebral cavernous malformation
c.990-27T>G Single submitter
c.990-5T>C Single submitter cerebral cavernous malformation
c.-2-16del Single submitter
c.-346G>A Single submitter
p.Ala10= Single submitter cerebral cavernous malformation
p.Ala154= Single submitter cerebral cavernous malformation
p.Ala159= Single submitter
p.Ala194= Single submitter cerebral cavernous malformation
p.Ala212= Single submitter cerebral cavernous malformation
p.Ala225= Single submitter cerebral cavernous malformation
p.Ala30= Single submitter Inborn genetic diseases
p.Ala362= Single submitter Inborn genetic diseases
p.Ala408= Single submitter
p.Arg306= Single submitter cerebral cavernous malformation
p.Arg452= Single submitter
p.Arg485His Single submitter Inborn genetic diseases
p.Asn189= Single submitter cerebral cavernous malformation
p.Asn347= Single submitter
p.Cys129= Single submitter cerebral cavernous malformation
p.Gln285= Single submitter Inborn genetic diseases
p.Gln473His Single submitter cerebral cavernous malformation ⚠
p.Gln560= Single submitter cerebral cavernous malformation
p.Gln66= Single submitter Inborn genetic diseases
p.Gln689= Single submitter Inborn genetic diseases
p.Glu198= Single submitter cerebral cavernous malformation
p.Gly429= Single submitter Inborn genetic diseases
p.His168= Single submitter cerebral cavernous malformation
p.His620= Single submitter cerebral cavernous malformation
p.Ile191= Single submitter cerebral cavernous malformation
p.Ile325= Single submitter cerebral cavernous malformation
p.Ile42= Single submitter cerebral cavernous malformation
p.Leu183= Single submitter Inborn genetic diseases
p.Leu317= Single submitter cerebral cavernous malformation
p.Leu341= Single submitter cerebral cavernous malformation
p.Leu410= Single submitter Inborn genetic diseases
p.Leu436= Single submitter
p.Leu453= Single submitter
p.Leu494= Single submitter cerebral cavernous malformation
p.Leu554= Single submitter
p.Leu576= Single submitter Inborn genetic diseases
p.Leu669= Single submitter
p.Leu670= Single submitter
p.Lys262= Single submitter cerebral cavernous malformation
p.Lys475= Single submitter
p.Lys569= Single submitter cerebral cavernous malformation
p.Lys720= Single submitter
p.Pro392= Single submitter cerebral cavernous malformation
p.Pro41= Single submitter
p.Pro476= Single submitter cerebral cavernous malformation
p.Pro480= Single submitter
p.Ser205= Single submitter cerebral cavernous malformation
p.Ser295= Single submitter cerebral cavernous malformation
p.Ser32Leu Single submitter
p.Ser433= Single submitter cerebral cavernous malformation
p.Thr443= Single submitter cerebral cavernous malformation
p.Thr56Met Single submitter
p.Thr674= Single submitter cerebral cavernous malformation
p.Thr712= Single submitter
p.Thr76= Single submitter cerebral cavernous malformation
p.Tyr635= Single submitter cerebral cavernous malformation
p.Tyr71= Single submitter cerebral cavernous malformation
p.Val434= Single submitter cerebral cavernous malformation
p.Val655= Single submitter
p.Val92= Single submitter
c.*127G>A No assertion criteria KRIT1-related disorder
p.Leu717= No assertion criteria KRIT1-related disorder

Uncertain significance 278

c.2025+3A>G Multiple submitters Inborn genetic diseases
c.846-8A>G Multiple submitters
c.-174C>A Multiple submitters cerebral cavernous malformation
p.Ala648Thr Multiple submitters cerebral cavernous malformation ⚠
p.Arg167Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg167His Multiple submitters Inborn genetic diseases ⚠
p.Arg179Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg243Gln Multiple submitters cerebral cavernous malformation
p.Arg243Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg306His Multiple submitters Inborn genetic diseases ⚠
p.Arg485Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn403Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn599Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp161Gly Multiple submitters cerebral cavernous malformation ⚠
p.Cys129Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln316Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln316Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln521= Multiple submitters cerebral cavernous malformation
p.Glu534Lys Multiple submitters cerebral cavernous malformation ⚠
p.Gly299Glu Multiple submitters cerebral cavernous malformation ⚠
p.His326Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile138Thr Multiple submitters cerebral cavernous malformation ⚠
p.Ile42Thr Multiple submitters cerebral cavernous malformation ⚠
p.Leu164Ser Multiple submitters cerebral cavernous malformation ⚠
p.Lys216Glu Multiple submitters cerebral cavernous malformation ⚠
p.Lys46Glu Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas ⚠
p.Lys479Thr Multiple submitters cerebral cavernous malformation ⚠
p.Met448Val Multiple submitters Inborn genetic diseases
p.Met672Val Multiple submitters Inborn genetic diseases ⚠
p.Met730Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser25Phe Multiple submitters Inborn genetic diseases
p.Ser467Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser592Thr Multiple submitters cerebral cavernous malformation ⚠
p.Ser701Asn Multiple submitters cerebral cavernous malformation ⚠
p.Thr151Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr457Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr252Cys Multiple submitters cerebral cavernous malformation ⚠
p.Val141Ile Multiple submitters Inborn genetic diseases ⚠
p.Val422Ile Multiple submitters Inborn genetic diseases ⚠
p.Val518Ala Multiple submitters Inborn genetic diseases ⚠
p.Val585Ile Multiple submitters Inborn genetic diseases ⚠
p.Val658Met Multiple submitters KRIT1-related disorder ⚠
c.103-6T>G Single submitter cerebral cavernous malformation
c.1146+3A>G Single submitter
c.1147-4C>T Single submitter cerebral cavernous malformation
c.1411+2_1411+5del Single submitter cerebral cavernous malformation
c.1411+22T>A Single submitter
c.1412-11_1412-9del Single submitter cerebral cavernous malformation
c.1412-3C>G Single submitter cerebral cavernous malformation
c.1563+6C>T Single submitter cerebral cavernous malformation
c.1564-8_1564-4del Single submitter KRIT1-related disorder
c.1730+6T>G Single submitter cerebral cavernous malformation
c.1731-12_1731-3del Single submitter
c.1731-3C>G Single submitter cerebral cavernous malformation
c.1731-5T>C Single submitter
c.1818+3A>C Single submitter cerebral cavernous malformation
c.1818+4A>G Single submitter cerebral cavernous malformation
c.1819-1G>C Single submitter
c.2025+26A>G Single submitter
c.356-8T>G Single submitter cerebral cavernous malformation
c.729+5G>A Single submitter
c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA Single submitter cerebral cavernous malformation
c.730-12T>C Single submitter
c.730-5T>A Single submitter Inborn genetic diseases
c.-2-12T>C Single submitter
c.-291T>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-307A>T Single submitter cerebral cavernous malformation
c.-394C>T Single submitter cerebral cavernous malformation
c.-420-276C>G Single submitter cerebral cavernous malformation
c.-421+185C>A Single submitter cerebral cavernous malformation
c.-421+190G>T Single submitter cerebral cavernous malformation
c.-421+240C>G Single submitter cerebral cavernous malformation
c.-529C>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-538C>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-628T>A Single submitter cerebral cavernous malformation
c.-632A>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-647T>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-691G>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-698G>A Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.-770G>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*1029T>G Single submitter cerebral cavernous malformation
c.*102C>T Single submitter cerebral cavernous malformation
c.*1205T>C Single submitter cerebral cavernous malformation
c.*1357A>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*1457T>C Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*1555A>G Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*1655T>G Single submitter cerebral cavernous malformation
c.*182A>G Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*331G>A Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*361C>G Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*436C>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*450A>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*451T>C Single submitter cerebral cavernous malformation
c.*578A>G Single submitter cerebral cavernous malformation
c.*62A>C Single submitter cerebral cavernous malformation
c.*648A>G Single submitter cerebral cavernous malformation
c.*77T>C Single submitter cerebral cavernous malformation
c.*859C>T Single submitter cerebral cavernous malformation
c.*885A>T Single submitter cerebral cavernous malformation
c.*8G>A Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
c.*918C>T Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
p.692DT[1] Single submitter cerebral cavernous malformation
p.Ala10Gly Single submitter ⚠
p.Ala150Val Single submitter Inborn genetic diseases ⚠
p.Ala169Gly Single submitter cerebral cavernous malformation ⚠
p.Ala194Ser Single submitter ⚠
p.Ala196Thr Single submitter Inborn genetic diseases ⚠
p.Ala221Thr Single submitter Inborn genetic diseases ⚠
p.Ala225Thr Single submitter cerebral cavernous malformation
p.Ala296Thr Single submitter Inborn genetic diseases ⚠
p.Ala407Gly Single submitter Inborn genetic diseases ⚠
p.Ala82Thr Single submitter Inborn genetic diseases ⚠
p.Arg106Gly Single submitter Inborn genetic diseases ⚠
p.Arg185Pro Single submitter cerebral cavernous malformation ⚠
p.Arg185Trp Single submitter Inborn genetic diseases ⚠
p.Arg243= Single submitter cerebral cavernous malformation
p.Arg284Gln Single submitter Inborn genetic diseases ⚠
p.Arg306Leu Single submitter ⚠
p.Arg338Ser Single submitter cerebral cavernous malformation ⚠
p.Arg382Lys Single submitter cerebral cavernous malformation ⚠
p.Arg390Gly Single submitter ⚠
p.Arg423Gln Single submitter cerebral cavernous malformation ⚠
p.Arg452Cys Single submitter Inborn genetic diseases ⚠
p.Arg452Leu Single submitter cerebral cavernous malformation ⚠
p.Arg87Thr Single submitter ⚠
p.Asn376Ile Single submitter cerebral cavernous malformation ⚠
p.Asn399Asp Single submitter Inborn genetic diseases ⚠
p.Asn61Ile Single submitter ⚠
p.Asn735Ser Single submitter Inborn genetic diseases ⚠
p.Asn83Lys Single submitter ⚠
p.Asp119Gly Single submitter
p.Asp486Asn Single submitter Inborn genetic diseases ⚠
p.Asp524Glu Single submitter KRIT1-related disorder
p.Cys346Ser Single submitter ⚠
p.Cys629Arg Single submitter ⚠
p.Cys685Arg Single submitter ⚠
p.Cys696Ser Single submitter Inborn genetic diseases ⚠
p.Gln239Lys Single submitter cerebral cavernous malformation ⚠
p.Gln272Arg Single submitter ⚠
p.Gln272His Single submitter Inborn genetic diseases ⚠
p.Gln387Leu Single submitter Inborn genetic diseases ⚠
p.Gln446His Single submitter Inborn genetic diseases ⚠
p.Gln45Glu Single submitter Inborn genetic diseases ⚠
p.Gln521His Single submitter cerebral cavernous malformation ⚠
p.Gln573Glu Single submitter cerebral cavernous malformation ⚠
p.Gln59Arg Single submitter ⚠
p.Glu302Asp Single submitter Inborn genetic diseases ⚠
p.Glu369Asp Single submitter cerebral cavernous malformation ⚠
p.Glu406Gly Single submitter cerebral cavernous malformation ⚠
p.Glu489Asp Single submitter ⚠
p.Glu617Asp Single submitter Inborn genetic diseases
p.Glu8Ala Single submitter Inborn genetic diseases ⚠
p.Gly200Arg Single submitter Inborn genetic diseases ⚠
p.Gly209Ser Single submitter Inborn genetic diseases ⚠
p.Gly2Arg Single submitter Inborn genetic diseases
p.Gly353Glu Single submitter ⚠
p.Gly366Arg Single submitter cerebral cavernous malformation ⚠
p.Gly574Val Single submitter cerebral cavernous malformation ⚠
p.Gly60Val Single submitter Inborn genetic diseases ⚠
p.Gly613Asp Single submitter
p.Gly636Val Single submitter Inborn genetic diseases ⚠
p.Gly666Arg Single submitter Inborn genetic diseases ⚠
p.Gly691fs Single submitter
p.His148Arg Single submitter cerebral cavernous malformation ⚠
p.His383Arg Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas ⚠
p.His38Tyr Single submitter Inborn genetic diseases ⚠
p.His668Asn Single submitter Inborn genetic diseases ⚠
p.His668Tyr Single submitter Inborn genetic diseases ⚠
p.Ile131Val Single submitter ⚠
p.Ile15Thr Single submitter cerebral cavernous malformation ⚠
p.Ile174Asn Single submitter ⚠
p.Ile373Val Single submitter cerebral cavernous malformation ⚠
p.Ile384Val Single submitter cerebral cavernous malformation ⚠
p.Ile415Phe Single submitter Inborn genetic diseases ⚠
p.Ile415Val Single submitter Inborn genetic diseases ⚠
p.Ile447Thr Single submitter Inborn genetic diseases ⚠
p.Ile463Leu Single submitter cerebral cavernous malformation ⚠
p.Ile522Thr Single submitter vascular dementia ⚠
p.Ile522Val Single submitter Inborn genetic diseases ⚠
p.Ile530Thr Single submitter Inborn genetic diseases ⚠
p.Ile552Val Single submitter Inborn genetic diseases ⚠
p.Ile561Val Single submitter Inborn genetic diseases
p.Ile601Val Single submitter Inborn genetic diseases
p.Leu135Phe Single submitter cerebral cavernous malformation ⚠
p.Leu164Phe Single submitter cerebral cavernous malformation
p.Leu183Val Single submitter ⚠
p.Leu233Phe Single submitter Inborn genetic diseases ⚠
p.Leu23Arg Single submitter cerebral cavernous malformation ⚠
p.Leu255Val Single submitter cerebral cavernous malformation
p.Leu304Pro Single submitter Inborn genetic diseases ⚠
p.Leu317Ser Single submitter KRIT1-related disorder ⚠
p.Leu355Val Single submitter Inborn genetic diseases
p.Leu374Pro Single submitter Inborn genetic diseases ⚠
p.Leu375Gln Single submitter Inborn genetic diseases ⚠
p.Leu410Phe Single submitter Inborn genetic diseases ⚠
p.Leu602Phe Single submitter cerebral cavernous malformation ⚠
p.Leu608Pro Single submitter ⚠
p.Leu667Arg Single submitter ⚠
p.Leu681Pro Single submitter Inborn genetic diseases ⚠
p.Leu690Met Single submitter ⚠
p.Leu722Ter Single submitter cerebral cavernous malformation
p.Leu99Gln Single submitter cerebral cavernous malformation ⚠
p.Lys18Glu Single submitter cerebral cavernous malformation ⚠
p.Lys216Arg Single submitter Inborn genetic diseases ⚠
p.Lys31Met Single submitter ⚠
p.Lys51Ile Single submitter Inborn genetic diseases ⚠
p.Lys591Glu Single submitter cerebral cavernous malformation ⚠
p.Lys606Arg Single submitter Inborn genetic diseases ⚠
p.Lys606Glu Single submitter ⚠
p.Lys665Gln Single submitter ⚠
p.Lys665Glu Single submitter ⚠
p.Lys713Glu Single submitter Inborn genetic diseases ⚠
p.Lys77Arg Single submitter cerebral cavernous malformation ⚠
p.Met139Thr Single submitter Inborn genetic diseases ⚠
p.Met275Leu Single submitter cerebral cavernous malformation ⚠
p.Met275Thr Single submitter Inborn genetic diseases ⚠
p.Met672Leu Single submitter Inborn genetic diseases ⚠
p.Met687Ile Single submitter cerebral cavernous malformation ⚠
p.Met706Val Single submitter KRIT1-related disorder ⚠
p.Met94Ile Single submitter ⚠
p.Met94Val Single submitter cerebral cavernous malformation ⚠
p.Phe234= Single submitter
p.Pro175Ala Single submitter Inborn genetic diseases ⚠
p.Pro175Leu Single submitter ⚠
p.Pro180His Single submitter ⚠
p.Pro182del Single submitter cerebral cavernous malformation
p.Pro232Ala Single submitter Inborn genetic diseases ⚠
p.Pro266Ser Single submitter Inborn genetic diseases ⚠
p.Pro291Ser Single submitter Inborn genetic diseases ⚠
p.Pro348Leu Single submitter ⚠
p.Pro378Leu Single submitter Inborn genetic diseases ⚠
p.Pro392Ala Single submitter Inborn genetic diseases ⚠
p.Pro41Ala Single submitter Inborn genetic diseases ⚠
p.Pro515Ala Single submitter Inborn genetic diseases ⚠
p.Pro515Ser Single submitter cerebral cavernous malformation ⚠
p.Pro547Leu Single submitter Inborn genetic diseases ⚠
p.Pro595Ser Single submitter cerebral cavernous malformation ⚠
p.Pro650Ser Single submitter Inborn genetic diseases ⚠
p.Pro657Leu Single submitter Inborn genetic diseases ⚠
p.Pro78Gln Single submitter ⚠
p.Ser181Pro Single submitter Inborn genetic diseases ⚠
p.Ser211Gly Single submitter Inborn genetic diseases ⚠
p.Ser309Gly Single submitter ⚠
p.Ser313Leu Single submitter cerebral cavernous malformation ⚠
p.Ser357Cys Single submitter Inborn genetic diseases ⚠
p.Ser391Pro Single submitter Inborn genetic diseases
p.Ser592Arg Single submitter Inborn genetic diseases ⚠
p.Ser609Asn Single submitter Inborn genetic diseases ⚠
p.Ser611Arg Single submitter Inborn genetic diseases ⚠
p.Ser615Asn Single submitter cerebral cavernous malformation
p.Thr126Ser Single submitter Inborn genetic diseases ⚠
p.Thr151Ile Single submitter cerebral cavernous malformation ⚠
p.Thr241Ala Single submitter KRIT1-related disorder
p.Thr337Ala Single submitter ⚠
p.Thr443Ser Single submitter ⚠
p.Thr553Ile Single submitter Inborn genetic diseases ⚠
p.Thr610Ile Single submitter Inborn genetic diseases ⚠
p.Trp688Arg Single submitter Inborn genetic diseases ⚠
p.Tyr230Cys Single submitter Inborn genetic diseases ⚠
p.Tyr419Cys Single submitter ⚠
p.Tyr431Cys Single submitter Inborn genetic diseases ⚠
p.Tyr477_Pro480del Single submitter
p.Tyr544Cys Single submitter cerebral cavernous malformation ⚠
p.Tyr563His Single submitter cerebral cavernous malformation ⚠
p.Tyr566Asn Single submitter ⚠
p.Tyr566His Single submitter cerebral cavernous malformation ⚠
p.Tyr605His Single submitter cerebral cavernous malformation ⚠
p.Tyr659Cys Single submitter cerebral cavernous malformation ⚠
p.Val117Ala Single submitter Inborn genetic diseases
p.Val248Leu Single submitter Inborn genetic diseases ⚠
p.Val278Ala Single submitter Inborn genetic diseases ⚠
p.Val334Ala Single submitter ⚠
p.Val444Ala Single submitter Inborn genetic diseases ⚠
p.Val658= Single submitter angiokeratoma corporis diffusum with arteriovenous fistulas
p.Val719del Single submitter
p.Val719Leu Single submitter cerebral cavernous malformation ⚠
p.Val72Ala Single submitter Inborn genetic diseases ⚠
p.Leu238Phe No assertion criteria KRIT1-related disorder ⚠