CCM2 — 403 ClinVar variants
All ClinVar germline CCM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →
75 Pathogenic · 10 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 14 Conflicting · 36 Benign · 13 Benign/Likely benign · 88 Likely benign · 146 Uncertain significance
Full CCM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 144
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CCM2 p.Arg307His
Conflicting
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg412Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CCM2 p.Leu213Pro
Conflicting
Single submitter
cerebral cavernous malformation
-
CCM2 p.Ser413Leu
Conflicting
Single submitter
cerebral cavernous malformation 2
Predictors lean, ClinVar uncertain 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCM2 p.Ala186Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCM2 p.Arg326Cys
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Arg423Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCM2 p.Asp256Asn
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Gln441Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCM2 p.Gly277Asp
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Ile131Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCM2 p.Ile163Val
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Lys284Asn
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
- CCM2 p.Ala117Val Uncertain significance Single submitter
-
CCM2 p.Ala140Asp
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ala206Glu
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Ala206Val Uncertain significance Single submitter
-
CCM2 p.Ala295Thr
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ala320Ser
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Arg146Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg326His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg387Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg404Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg40Cys
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Asn401Asp
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Asn94Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Asp110Asn
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Asp110Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Asp249Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Asp431Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.Cys194Trp Uncertain significance Single submitter
-
CCM2 p.Cys210Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Cys269Phe
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Gln300Arg
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Gln340Arg Uncertain significance Single submitter
- CCM2 p.Gln441Lys Uncertain significance Single submitter
-
CCM2 p.Glu262Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Glu264Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Glu288Asp
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Glu417Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.Glu51Asp Uncertain significance Single submitter
-
CCM2 p.Gly127Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Gly176Ser
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Gly278Asp Uncertain significance Single submitter
-
CCM2 p.Gly418Arg
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Gly418Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.His332Arg Uncertain significance Single submitter
-
CCM2 p.Ile130Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ile13Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ile197Leu
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ile233Thr
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ile331Thr
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ile372Thr
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ile63Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ile76Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Leu115Arg
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Leu155Arg Uncertain significance Single submitter
- CCM2 p.Leu155Pro Uncertain significance Single submitter
- CCM2 p.Leu338Val Uncertain significance Single submitter
-
CCM2 p.Leu392Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Leu73Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.Lys156Asn Uncertain significance Single submitter
-
CCM2 p.Lys68Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Lys6Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Met424Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Pro165Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Pro271Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.Pro271Thr Uncertain significance Single submitter
- CCM2 p.Pro281Ser Uncertain significance Single submitter
-
CCM2 p.Ser116Pro
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ser143Pro
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Ser15Leu Uncertain significance Single submitter
- CCM2 p.Ser173Arg Uncertain significance Single submitter
- CCM2 p.Ser178Gly Uncertain significance Single submitter
-
CCM2 p.Ser273Pro
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ser330Phe
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Ser416Ala Uncertain significance Single submitter
-
CCM2 p.Ser443Ala
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ser443Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Thr394Ala
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Thr44Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.Trp124Cys Uncertain significance Single submitter
-
CCM2 p.Tyr144Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Val145Gly
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Val153Gly Uncertain significance Single submitter
-
CCM2 p.Val187Phe
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Val20Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Val45Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ile428Ser
Uncertain significance
No assertion criteria
vascular dementia
Predictors split 55
The independent predictors disagree with each other — read with care.
-
CCM2 p.Arg146Trp
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Arg412Trp
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Pro102Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCM2 p.Ser289Asn
Benign
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Val142Ile
Uncertain significance
Multiple submitters
cerebral cavernous malformation 2
-
CCM2 p.Val374Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCM2 p.Arg354Lys
Conflicting
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg387Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg389Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg390Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Arg423Cys
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Arg423His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Asn327Asp
Likely benign
Single submitter
Inborn genetic diseases
- CCM2 p.Asp110Glu Uncertain significance Single submitter
-
CCM2 p.Asp227Asn
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Asp230Val Uncertain significance Single submitter
-
CCM2 p.Glu191Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Glu433Lys
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Glu54Lys
Conflicting
Single submitter
Inborn genetic diseases
-
CCM2 p.Gly377Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Gly379Ser
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Gly8Asp
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.His364Arg
Conflicting
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.His99Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ile226Ser
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ile315Leu
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Ile432Val Uncertain significance Single submitter
-
CCM2 p.Leu177Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Leu306Met
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Lys10Asn Uncertain significance Single submitter
- CCM2 p.Lys121Arg Uncertain significance Single submitter
-
CCM2 p.Lys309Arg
Benign
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Lys31Asn
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Lys375Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Lys96Asn
Uncertain significance
Single submitter
cerebral cavernous malformation 2
- CCM2 p.Met424Ile Uncertain significance Single submitter
-
CCM2 p.Phe228Cys
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Phe268Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCM2 p.Phe270Leu Likely benign Single submitter
-
CCM2 p.Pro102Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Pro355Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ser181Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ser251Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ser27Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ser398Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
CCM2 p.Ser426Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Ser429Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCM2 p.Thr106Ile
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Thr222Met
Conflicting
Single submitter
Inborn genetic diseases
- CCM2 p.Thr371Ile Uncertain significance Single submitter
-
CCM2 p.Thr406Met
Conflicting
Single submitter
Inborn genetic diseases
-
CCM2 p.Thr74Met
Uncertain significance
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Val190Met
Conflicting
Single submitter
cerebral cavernous malformation 2
-
CCM2 p.Ala123Pro
Pathogenic
No assertion criteria
cerebral cavernous malformation 2
-
CCM2 p.Ala140Thr
Uncertain significance
No assertion criteria
CCM2-related disorder
All CCM2 variants
Pathogenic 75
- c.30+1G>A Multiple submitters cerebral cavernous malformation 2
- c.473-1G>T Multiple submitters cerebral cavernous malformation 2
- c.745+1G>T Multiple submitters cerebral cavernous malformation 2
- p.Arg19Ter Multiple submitters CCM2-related disorder
- p.Arg57fs Multiple submitters cerebral cavernous malformation 2
- p.Gln107Ter Multiple submitters cerebral cavernous malformation 2
- p.Gln159Ter Multiple submitters cerebral cavernous malformation 2
- p.Gln215Ter Multiple submitters cerebral cavernous malformation 2
- p.Gln218Ter Multiple submitters cerebral cavernous malformation 2
- p.Gln72Ter Multiple submitters cerebral cavernous malformation 2
- p.Gly24fs Multiple submitters cerebral cavernous malformation 2
- p.Met1Val Multiple submitters cerebral cavernous malformation 2
- p.Ser280Ter Multiple submitters cerebral cavernous malformation 2
- c.204+1G>A Single submitter cerebral cavernous malformation 2
- c.289-1G>T Single submitter
- c.289-2A>G Single submitter cerebral cavernous malformation 2
- c.472+2_472+7del Single submitter
- c.473-2A>G Single submitter cerebral cavernous malformation 2
- c.610-1G>A Single submitter cerebral cavernous malformation 2
- c.745+1G>C Single submitter cerebral cavernous malformation 2
- c.745+2T>C Single submitter cerebral cavernous malformation 2
- c.746-1G>A Single submitter cerebral cavernous malformation 2
- p.Ala171fs Single submitter
- p.Ala32fs Single submitter cerebral cavernous malformation 2
- p.Arg28fs Single submitter cerebral cavernous malformation 2
- p.Asp56fs Single submitter cerebral cavernous malformation 2
- p.Cys211fs Single submitter cerebral cavernous malformation 2
- p.Gln100Ter Single submitter cerebral cavernous malformation 2
- p.Gln167fs Single submitter cerebral cavernous malformation 2
- p.Gln167Ter Single submitter cerebral cavernous malformation 2
- p.Gln218fs Single submitter cerebral cavernous malformation 2
- p.Glu191fs Single submitter
- p.Glu207fs Single submitter
- p.Glu208Ter Single submitter
- p.Glu324Ter Single submitter cerebral cavernous malformation 2
- p.Glu359delinsProTer Single submitter cerebral cavernous malformation 2
- p.Glu51Ter Single submitter cerebral cavernous malformation 2
- p.Glu66fs Single submitter
- p.Gly8fs Single submitter cerebral cavernous malformation 2
- p.His104_Leu105insTer Single submitter
- p.His104fs Single submitter cerebral cavernous malformation 2
- p.His33fs Single submitter
- p.His99fs Single submitter
- p.Ile136fs Single submitter cerebral cavernous malformation 2
- p.Leu113Pro Single submitter cerebral cavernous malformation 2
- p.Leu177fs Single submitter cerebral cavernous malformation 2
- p.Leu212fs Single submitter cerebral cavernous malformation 2
- p.Leu349fs Single submitter cerebral cavernous malformation 2
- p.Leu49fs Single submitter cerebral cavernous malformation
- p.Leu58fs Single submitter Inborn genetic diseases
- p.Leu59fs Single submitter
- p.Leu73fs Single submitter cerebral cavernous malformation 2
- p.Lys156fs Single submitter cerebral cavernous malformation 2
- p.Phe17fs Single submitter cerebral cavernous malformation 2
- p.Phe21fs Single submitter cerebral cavernous malformation 2
- p.Phe228fs Single submitter
- p.Pro16fs Single submitter cerebral cavernous malformation 2
- p.Pro41fs Single submitter
- p.Pro77fs Single submitter cerebral cavernous malformation 2
- p.Ser15delinsIleTer Single submitter cerebral cavernous malformation 2
- p.Ser174fs Single submitter cerebral cavernous malformation 2
- p.Thr106fs Single submitter
- p.Thr44fs Single submitter cerebral cavernous malformation 2
- p.Trp124fs Single submitter cerebral cavernous malformation 2
- p.Tyr118Ter Single submitter cavernous hemangioma
- p.Val196fs Single submitter
- p.Val220_Tyr221insTer Single submitter cerebral cavernous malformation 2
- p.Val67fs Single submitter cerebral cavernous malformation 2
- c.288+1G>A No assertion criteria cerebral cavernous malformation 2
- p.Ala123Pro No assertion criteria cerebral cavernous malformation 2 ⚠
- p.Ala98fs No assertion criteria cerebral cavernous malformation 2
- p.Leu122Arg No assertion criteria cerebral cavernous malformation 2
- p.Leu198Arg No assertion criteria cerebral cavernous malformation 2
- p.Leu198Pro No assertion criteria cerebral cavernous malformation 2
- p.Tyr79fs No assertion criteria
Pathogenic/Likely pathogenic 10
- c.289-1G>A Multiple submitters cerebral cavernous malformation 2
- c.30+5_30+6delinsTT Multiple submitters Inborn genetic diseases
- c.472+1G>C Multiple submitters cerebral cavernous malformation 2
- p.Arg412fs Multiple submitters cerebral cavernous malformation 2
- p.Arg57Ter Multiple submitters cerebral cavernous malformation 2
- p.Glu264fs Multiple submitters cerebral cavernous malformation 2
- p.Glu417fs Multiple submitters cerebral cavernous malformation 2
- p.Lys203= Multiple submitters cerebral cavernous malformation 2
- p.Lys360Ter Multiple submitters CCM2-related disorder
- p.Val45fs Multiple submitters
Likely pathogenic 21
- c.289-19_352del Single submitter
- c.30+5G>T Single submitter cerebral cavernous malformation 2
- c.31-1G>C Single submitter cerebral cavernous malformation 2
- c.31-2A>G Single submitter cerebral cavernous malformation 2
- c.472+1G>T Single submitter
- c.609+2T>C Single submitter cerebral cavernous malformation 2
- c.803+1G>A Single submitter cerebral cavernous malformation 2
- c.915+2T>C Single submitter cerebral cavernous malformation 2
- c.916-1G>T Single submitter cerebral cavernous malformation 2
- p.Ala150fs Single submitter CCM2-related disorder
- p.Gln100fs Single submitter
- p.Gln363Ter Single submitter
- p.Glu3Ter Single submitter cerebral cavernous malformation 2
- p.Ile163fs Single submitter
- p.Leu212Pro Single submitter cerebral cavernous malformation 2
- p.Lys26_Ser27insTer Single submitter
- p.Lys26fs Single submitter
- p.Pro55fs Single submitter cerebral cavernous malformation
- p.Glu54Ter No assertion criteria CCM2-related disorder
- p.Leu195Arg No assertion criteria cerebral cavernous malformation 2
- p.Val134fs No assertion criteria cerebral cavernous malformation
Conflicting classifications of pathogenicity 14
- c.204+8G>A Single submitter cerebral cavernous malformation 2
- p.Arg307His Single submitter Inborn genetic diseases ⚠
- p.Arg354Lys Single submitter Inborn genetic diseases ⚠
- p.Arg412Gln Single submitter Inborn genetic diseases ⚠
- p.Glu54Lys Single submitter Inborn genetic diseases ⚠
- p.His364Arg Single submitter cerebral cavernous malformation 2 ⚠
- p.Leu213Pro Single submitter cerebral cavernous malformation ⚠
- p.Lys10= Single submitter cerebral cavernous malformation 2
- p.Ser248= Single submitter cerebral cavernous malformation 2
- p.Ser398Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser413Leu Single submitter cerebral cavernous malformation 2 ⚠
- p.Thr222Met Single submitter Inborn genetic diseases ⚠
- p.Thr406Met Single submitter Inborn genetic diseases ⚠
- p.Val190Met Single submitter cerebral cavernous malformation 2 ⚠
Benign 36
- c.205-36A>G Multiple submitters
- c.31-10585G>C Multiple submitters cerebral cavernous malformation 2
- c.609+18C>A Multiple submitters cerebral cavernous malformation 2
- p.Ala117= Multiple submitters cerebral cavernous malformation 2
- p.Glu128= Multiple submitters cerebral cavernous malformation 2
- p.Glu420= Multiple submitters cerebral cavernous malformation 2
- p.Ser289Asn Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Thr305= Multiple submitters cerebral cavernous malformation 2
- p.Val120Ile Multiple submitters cerebral cavernous malformation 2
- p.Val53Ile Multiple submitters cerebral cavernous malformation 2
- c.1054+217A>G Single submitter
- c.1054+219C>T Single submitter
- c.1054+82C>T Single submitter
- c.205-230T>G Single submitter
- c.288+171C>T Single submitter
- c.30+101_30+102insT Single submitter
- c.30+101G>T Single submitter
- c.30+17G>T Single submitter
- c.30+94_30+95insC Single submitter
- c.31-10835A>G Single submitter
- c.472+127C>T Single submitter
- c.473-174A>G Single submitter
- c.746-255T>G Single submitter
- c.803+17C>G Single submitter cerebral cavernous malformation 2
- c.803+330A>G Single submitter
- c.803+89C>A Single submitter
- c.804-157T>C Single submitter
- c.804-286T>C Single submitter
- c.804-9C>G Single submitter cerebral cavernous malformation 2
- c.915+119C>T Single submitter
- c.915+11G>A Single submitter cerebral cavernous malformation 2
- c.915+173C>T Single submitter
- c.916-7C>G Single submitter cerebral cavernous malformation 2
- c.-37G>C Single submitter
- c.*117T>C Single submitter
- p.Lys309Arg Single submitter cerebral cavernous malformation 2 ⚠
Benign/Likely benign 13
- c.1054+12C>T Multiple submitters cerebral cavernous malformation 2
- c.1055-6C>T Multiple submitters cerebral cavernous malformation 2
- c.804-12del Multiple submitters cerebral cavernous malformation 2
- c.804-5C>T Multiple submitters cerebral cavernous malformation 2
- c.*14G>T Multiple submitters
- p.Asn327Ser Multiple submitters cerebral cavernous malformation 2
- p.Asn401= Multiple submitters cerebral cavernous malformation 2
- p.Gly328= Multiple submitters cerebral cavernous malformation 2
- p.His109= Multiple submitters cerebral cavernous malformation 2
- p.Leu113= Multiple submitters cerebral cavernous malformation 2
- p.Pro240= Multiple submitters cerebral cavernous malformation 2
- p.Pro82= Multiple submitters Inborn genetic diseases
- p.Thr74= Multiple submitters Inborn genetic diseases
Likely benign 88
- c.746-17C>T Multiple submitters cerebral cavernous malformation 2
- c.804-12A>G Multiple submitters cerebral cavernous malformation 2
- c.916-3C>T Multiple submitters cerebral cavernous malformation 2
- c.*6A>G Multiple submitters
- p.Arg378= Multiple submitters Inborn genetic diseases
- p.Asn119= Multiple submitters cerebral cavernous malformation 2
- p.Asp442= Multiple submitters Inborn genetic diseases
- p.His388= Multiple submitters cerebral cavernous malformation 2
- p.Ile428= Multiple submitters Inborn genetic diseases
- p.Leu321= Multiple submitters Inborn genetic diseases
- p.Leu42= Multiple submitters cerebral cavernous malformation 2
- p.Phe228= Multiple submitters cerebral cavernous malformation 2
- p.Ser183= Multiple submitters Inborn genetic diseases
- p.Ser245= Multiple submitters cerebral cavernous malformation 2
- p.Ser430= Multiple submitters Inborn genetic diseases
- p.Ser60= Multiple submitters Inborn genetic diseases
- c.204+11A>G Single submitter cerebral cavernous malformation 2
- c.204+37C>T Single submitter
- c.205-18T>G Single submitter cerebral cavernous malformation 2
- c.288+11C>T Single submitter cerebral cavernous malformation 2
- c.289-14G>A Single submitter cerebral cavernous malformation 2
- c.30+14G>A Single submitter cerebral cavernous malformation 2
- c.30+6C>T Single submitter
- c.31-14G>A Single submitter cerebral cavernous malformation 2
- c.472+13A>G Single submitter cerebral cavernous malformation 2
- c.472+16G>A Single submitter cerebral cavernous malformation 2
- c.472+17G>C Single submitter cerebral cavernous malformation 2
- c.472+9G>C Single submitter cerebral cavernous malformation 2
- c.609+18C>T Single submitter cerebral cavernous malformation 2
- c.745+19G>A Single submitter cerebral cavernous malformation 2
- c.746-13A>G Single submitter cerebral cavernous malformation 2
- c.804-14A>T Single submitter cerebral cavernous malformation 2
- c.915+16A>G Single submitter cerebral cavernous malformation 2
- c.916-20C>G Single submitter cerebral cavernous malformation 2
- c.916-7C>T Single submitter cerebral cavernous malformation 2
- c.-27_-19dup Single submitter
- c.*15G>A Single submitter
- c.*20dup Single submitter
- p.Ala141= Single submitter Inborn genetic diseases
- p.Ala149Thr Single submitter
- p.Ala171Val Single submitter Inborn genetic diseases
- p.Ala295= Single submitter cerebral cavernous malformation 2
- p.Ala434= Single submitter cerebral cavernous malformation 2
- p.Arg146= Single submitter cerebral cavernous malformation 2
- p.Arg19= Single submitter cerebral cavernous malformation 2
- p.Arg389= Single submitter Inborn genetic diseases
- p.Arg40= Single submitter cerebral cavernous malformation 2
- p.Arg52= Single submitter cerebral cavernous malformation 2
- p.Asn327Asp Single submitter Inborn genetic diseases ⚠
- p.Asp431= Single submitter cerebral cavernous malformation 2
- p.Glu259= Single submitter cerebral cavernous malformation 2
- p.Glu433= Single submitter cerebral cavernous malformation 2
- p.Gly180= Single submitter Inborn genetic diseases
- p.Gly24= Single submitter cerebral cavernous malformation 2
- p.His323= Single submitter Inborn genetic diseases
- p.His33= Single submitter Inborn genetic diseases
- p.Ile226= Single submitter
- p.Ile226Val Single submitter Inborn genetic diseases
- p.Leu115= Single submitter
- p.Leu182= Single submitter cerebral cavernous malformation 2
- p.Leu212= Single submitter cerebral cavernous malformation 2
- p.Leu244= Single submitter cerebral cavernous malformation 2
- p.Leu291= Single submitter
- p.Leu298= Single submitter Inborn genetic diseases
- p.Leu341= Single submitter cerebral cavernous malformation 2
- p.Lys375= Single submitter
- p.Phe270Leu Single submitter ⚠
- p.Phe318= Single submitter cerebral cavernous malformation 2
- p.Phe356= Single submitter cerebral cavernous malformation 2
- p.Phe365= Single submitter cerebral cavernous malformation 2
- p.Pro16= Single submitter cerebral cavernous malformation 2
- p.Pro415= Single submitter Inborn genetic diseases
- p.Pro50= Single submitter
- p.Ser292= Single submitter Inborn genetic diseases
- p.Ser408= Single submitter Inborn genetic diseases
- p.Ser416= Single submitter cerebral cavernous malformation 2
- p.Ser426= Single submitter cerebral cavernous malformation 2
- p.Thr394Ser Single submitter Inborn genetic diseases
- p.Tyr261= Single submitter cerebral cavernous malformation 2
- p.Tyr342= Single submitter cerebral cavernous malformation 2
- p.Val187= Single submitter Inborn genetic diseases
- p.Val204= Single submitter cerebral cavernous malformation 2
- p.Val220= Single submitter Inborn genetic diseases
- p.Val53= Single submitter Inborn genetic diseases
- c.31-10449G>T No assertion criteria CCM2-related disorder
- c.915+10C>T No assertion criteria CCM2-related disorder
- c.*19dup No assertion criteria CCM2-related disorder
- p.Ser289= No assertion criteria CCM2-related disorder
Uncertain significance 146
- p.Ala186Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg146Trp Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Arg326Cys Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Arg412Trp Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Arg423Pro Multiple submitters Inborn genetic diseases ⚠
- p.Asp256Asn Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Gln441Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly277Asp Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Ile131Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile163Val Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Lys284Asn Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Pro102Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val142Ile Multiple submitters cerebral cavernous malformation 2 ⚠
- p.Val374Met Multiple submitters Inborn genetic diseases ⚠
- c.1054+5G>A Single submitter
- c.204+2dup Single submitter cerebral cavernous malformation 2
- c.204+3A>C Single submitter cerebral cavernous malformation 2
- c.288+3A>C Single submitter cerebral cavernous malformation 2
- c.30+5G>A Single submitter cerebral cavernous malformation 2
- c.31-10496C>G Single submitter
- c.31-11T>G Single submitter cerebral cavernous malformation 2
- c.31-3C>A Single submitter CCM2-related disorder
- c.472+5A>G Single submitter Inborn genetic diseases
- c.472+6G>C Single submitter cerebral cavernous malformation 2
- c.803+3G>C Single submitter
- p.Ala117Val Single submitter ⚠
- p.Ala140Asp Single submitter cerebral cavernous malformation 2 ⚠
- p.Ala206Glu Single submitter cerebral cavernous malformation 2 ⚠
- p.Ala206Val Single submitter ⚠
- p.Ala295Thr Single submitter cerebral cavernous malformation 2 ⚠
- p.Ala320Ser Single submitter cerebral cavernous malformation 2 ⚠
- p.Arg146Gln Single submitter Inborn genetic diseases ⚠
- p.Arg326His Single submitter Inborn genetic diseases ⚠
- p.Arg387Lys Single submitter Inborn genetic diseases ⚠
- p.Arg387Met Single submitter Inborn genetic diseases ⚠
- p.Arg389Trp Single submitter Inborn genetic diseases ⚠
- p.Arg390Gln Single submitter Inborn genetic diseases ⚠
- p.Arg404Gly Single submitter Inborn genetic diseases ⚠
- p.Arg40Cys Single submitter cerebral cavernous malformation 2 ⚠
- p.Arg423Cys Single submitter cerebral cavernous malformation 2 ⚠
- p.Arg423His Single submitter Inborn genetic diseases ⚠
- p.Asn401Asp Single submitter cerebral cavernous malformation 2 ⚠
- p.Asn94Ser Single submitter Inborn genetic diseases ⚠
- p.Asp110Asn Single submitter cerebral cavernous malformation 2 ⚠
- p.Asp110Glu Single submitter ⚠
- p.Asp110Gly Single submitter Inborn genetic diseases ⚠
- p.Asp138_Ile139insAsp Single submitter
- p.Asp227Asn Single submitter cerebral cavernous malformation 2 ⚠
- p.Asp230Val Single submitter ⚠
- p.Asp249Gly Single submitter Inborn genetic diseases ⚠
- p.Asp431Asn Single submitter Inborn genetic diseases ⚠
- p.Cys194Trp Single submitter ⚠
- p.Cys210Trp Single submitter Inborn genetic diseases ⚠
- p.Cys269Phe Single submitter cerebral cavernous malformation 2 ⚠
- p.Gln300Arg Single submitter cerebral cavernous malformation 2 ⚠
- p.Gln316fs Single submitter
- p.Gln340Arg Single submitter ⚠
- p.Gln441Lys Single submitter ⚠
- p.Glu191Lys Single submitter Inborn genetic diseases ⚠
- p.Glu262Lys Single submitter Inborn genetic diseases ⚠
- p.Glu264Lys Single submitter Inborn genetic diseases ⚠
- p.Glu288Asp Single submitter cerebral cavernous malformation 2 ⚠
- p.Glu417Gly Single submitter Inborn genetic diseases ⚠
- p.Glu433Lys Single submitter cerebral cavernous malformation 2 ⚠
- p.Glu51Asp Single submitter ⚠
- p.Gly127Arg Single submitter Inborn genetic diseases ⚠
- p.Gly176Ser Single submitter cerebral cavernous malformation 2 ⚠
- p.Gly278Asp Single submitter ⚠
- p.Gly377Ser Single submitter Inborn genetic diseases ⚠
- p.Gly379Ser Single submitter cerebral cavernous malformation 2 ⚠
- p.Gly418Arg Single submitter cerebral cavernous malformation 2 ⚠
- p.Gly418Glu Single submitter Inborn genetic diseases ⚠
- p.Gly8Asp Single submitter cerebral cavernous malformation 2 ⚠
- p.His332Arg Single submitter ⚠
- p.His99Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile130Val Single submitter Inborn genetic diseases ⚠
- p.Ile13Thr Single submitter Inborn genetic diseases ⚠
- p.Ile197Leu Single submitter cerebral cavernous malformation 2 ⚠
- p.Ile226Ser Single submitter cerebral cavernous malformation 2 ⚠
- p.Ile233Thr Single submitter cerebral cavernous malformation 2 ⚠
- p.Ile315Leu Single submitter cerebral cavernous malformation 2 ⚠
- p.Ile331Thr Single submitter cerebral cavernous malformation 2 ⚠
- p.Ile372Thr Single submitter cerebral cavernous malformation 2 ⚠
- p.Ile432Val Single submitter ⚠
- p.Ile63Val Single submitter Inborn genetic diseases ⚠
- p.Ile76Leu Single submitter Inborn genetic diseases ⚠
- p.Leu115Arg Single submitter cerebral cavernous malformation 2 ⚠
- p.Leu155Arg Single submitter ⚠
- p.Leu155Pro Single submitter ⚠
- p.Leu177Phe Single submitter Inborn genetic diseases ⚠
- p.Leu306Met Single submitter cerebral cavernous malformation 2 ⚠
- p.Leu338Val Single submitter ⚠
- p.Leu392Val Single submitter Inborn genetic diseases ⚠
- p.Leu73Val Single submitter Inborn genetic diseases ⚠
- p.Lys10Asn Single submitter ⚠
- p.Lys121Arg Single submitter ⚠
- p.Lys156Asn Single submitter ⚠
- p.Lys31Asn Single submitter cerebral cavernous malformation 2 ⚠
- p.Lys375Glu Single submitter Inborn genetic diseases ⚠
- p.Lys65del Single submitter cerebral cavernous malformation 2
- p.Lys68Glu Single submitter Inborn genetic diseases ⚠
- p.Lys6Arg Single submitter Inborn genetic diseases ⚠
- p.Lys96Asn Single submitter cerebral cavernous malformation 2 ⚠
- p.Met1Ile Single submitter
- p.Met424Ile Single submitter ⚠
- p.Met424Val Single submitter Inborn genetic diseases ⚠
- p.Phe228Cys Single submitter cerebral cavernous malformation 2 ⚠
- p.Phe268Leu Single submitter Inborn genetic diseases ⚠
- p.Pro102Ala Single submitter Inborn genetic diseases ⚠
- p.Pro165Thr Single submitter Inborn genetic diseases ⚠
- p.Pro271Leu Single submitter Inborn genetic diseases ⚠
- p.Pro271Thr Single submitter ⚠
- p.Pro281Ser Single submitter ⚠
- p.Pro355Ala Single submitter Inborn genetic diseases ⚠
- p.Ser116Pro Single submitter cerebral cavernous malformation 2 ⚠
- p.Ser143del Single submitter cerebral cavernous malformation 2
- p.Ser143Pro Single submitter cerebral cavernous malformation 2 ⚠
- p.Ser15Leu Single submitter ⚠
- p.Ser173Arg Single submitter ⚠
- p.Ser178Gly Single submitter ⚠
- p.Ser181Cys Single submitter Inborn genetic diseases ⚠
- p.Ser251Pro Single submitter Inborn genetic diseases ⚠
- p.Ser273Pro Single submitter cerebral cavernous malformation 2 ⚠
- p.Ser27Ile Single submitter Inborn genetic diseases ⚠
- p.Ser330Phe Single submitter cerebral cavernous malformation 2 ⚠
- p.Ser416Ala Single submitter ⚠
- p.Ser426Leu Single submitter Inborn genetic diseases ⚠
- p.Ser429Asn Single submitter Inborn genetic diseases ⚠
- p.Ser443Ala Single submitter cerebral cavernous malformation 2 ⚠
- p.Ser443Leu Single submitter Inborn genetic diseases ⚠
- p.Ter445Gly Single submitter
- p.Thr106Ile Single submitter cerebral cavernous malformation 2 ⚠
- p.Thr371Ile Single submitter ⚠
- p.Thr394Ala Single submitter cerebral cavernous malformation 2 ⚠
- p.Thr44Ser Single submitter Inborn genetic diseases ⚠
- p.Thr74Met Single submitter cerebral cavernous malformation 2 ⚠
- p.Trp124Cys Single submitter ⚠
- p.Tyr144Cys Single submitter Inborn genetic diseases ⚠
- p.Val120Asn Single submitter cerebral cavernous malformation 2
- p.Val145Gly Single submitter cerebral cavernous malformation 2 ⚠
- p.Val153Gly Single submitter ⚠
- p.Val187Phe Single submitter cerebral cavernous malformation 2 ⚠
- p.Val20Ile Single submitter Inborn genetic diseases ⚠
- p.Val45Leu Single submitter Inborn genetic diseases ⚠
- p.Ala140Thr No assertion criteria CCM2-related disorder ⚠
- p.Ile428Ser No assertion criteria vascular dementia ⚠