ANTXR1 — 193 ClinVar variants
All ClinVar germline ANTXR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 3 Conflicting · 64 Benign · 2 Benign/Likely benign · 35 Likely benign · 78 Uncertain significance
Full ANTXR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ANTXR1 p.Ala518Val
Conflicting
Single submitter
capillary infantile hemangioma
-
ANTXR1 p.Pro344Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ANTXR1 p.Arg444Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Gly369Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Leu45Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Thr503Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Ala19Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Ala26Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Ala326Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Ala4Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Ala500Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Ala528Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Ala528Thr Uncertain significance Single submitter
-
ANTXR1 p.Ala8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg247Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg431Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg438His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg439Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg557Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg561Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg88Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Asn498Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Asp263Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Cys220Ser
Uncertain significance
Single submitter
GAPO syndrome
-
ANTXR1 p.Cys521Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Glu67Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Gly12Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Gly179Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Gly245Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Gly30Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.His213Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.His71Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Ile285Thr Uncertain significance Single submitter
-
ANTXR1 p.Leu540Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Phe246Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro440Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro443Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Pro492Leu Uncertain significance Single submitter
-
ANTXR1 p.Thr478Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Thr530Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Thr87Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Val239Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Val388Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Val459Ile Uncertain significance Single submitter
-
ANTXR1 p.Val564Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Ala456Val Uncertain significance No assertion criteria
Predictors split 34
The independent predictors disagree with each other — read with care.
-
ANTXR1 p.Ala26Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Arg557Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ANTXR1 p.Arg7Lys Benign Multiple submitters
-
ANTXR1 p.Pro506Leu
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Pro534Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Val144Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANTXR1 p.Arg103Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg103His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg397His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg438Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Arg480His Likely benign Single submitter
-
ANTXR1 p.Arg557His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Arg557Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Asp182Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Asp34Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Asp34Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Asp367Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Gly27Val
Uncertain significance
Single submitter
GAPO syndrome
-
ANTXR1 p.Gly384Ser
Likely pathogenic
Single submitter
GAPO syndrome
-
ANTXR1 p.Ile174Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Ile311Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Leu328Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Met471Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANTXR1 p.Pro356Leu Uncertain significance Single submitter
-
ANTXR1 p.Pro508Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro514Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro515Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro516Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro524Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro526Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Pro534Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Thr20Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Thr277Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANTXR1 p.Trp458Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All ANTXR1 variants
Pathogenic 1
- p.Arg88Ter No assertion criteria GAPO syndrome
Pathogenic/Likely pathogenic 1
- p.Arg169Ter Multiple submitters GAPO syndrome
Likely pathogenic 9
- c.1434+1G>A Single submitter GAPO syndrome
- c.951+1_951+2del Single submitter GAPO syndrome
- p.Ala408fs Single submitter GAPO syndrome
- p.Arg190fs Single submitter GAPO syndrome
- p.Gln137= Single submitter GAPO syndrome
- p.Gly384Ser Single submitter GAPO syndrome ⚠
- p.Ile285Asn Single submitter ⚠
- p.Gln238Ter No assertion criteria ANTXR1-related disorder
- p.Ile145fs No assertion criteria
Conflicting classifications of pathogenicity 3
- c.561+6G>A Single submitter GAPO syndrome
- p.Ala518Val Single submitter capillary infantile hemangioma ⚠
- p.Pro344Arg Single submitter Inborn genetic diseases ⚠
Benign 64
- c.1185+16C>A Multiple submitters GAPO syndrome
- c.1434+44T>A Multiple submitters
- c.1434+45_1434+46insTCAC Multiple submitters GAPO syndrome
- c.1434+46A>T Multiple submitters
- c.1434+49T>C Multiple submitters GAPO syndrome
- c.1434+75C>T Multiple submitters
- c.1435-72G>A Multiple submitters
- c.152+89G>C Multiple submitters GAPO syndrome
- c.153-148A>T Multiple submitters
- c.153-42G>A Multiple submitters GAPO syndrome
- c.224+57T>C Multiple submitters
- c.224+81A>G Multiple submitters GAPO syndrome
- c.296+148G>A Multiple submitters
- c.296+161G>A Multiple submitters
- c.296+171C>T Multiple submitters
- c.297-157C>T Multiple submitters
- c.378+37A>G Multiple submitters
- c.379-69T>C Multiple submitters GAPO syndrome
- c.413-61G>A Multiple submitters GAPO syndrome
- c.413-65_413-63del Multiple submitters GAPO syndrome
- c.413-67G>C Multiple submitters GAPO syndrome
- c.492+10G>A Multiple submitters GAPO syndrome
- c.492+41C>T Multiple submitters
- c.642+159C>T Multiple submitters
- c.642+99T>C Multiple submitters GAPO syndrome
- c.643-66G>A Multiple submitters GAPO syndrome
- c.703+110T>G Multiple submitters
- c.703+78T>G Multiple submitters GAPO syndrome
- c.802+46A>G Multiple submitters GAPO syndrome
- c.803-40T>C Multiple submitters
- c.872+125G>A Multiple submitters
- c.873-76T>A Multiple submitters GAPO syndrome
- c.873-80G>A Multiple submitters
- c.951+188G>A Multiple submitters
- c.952-21G>A Multiple submitters
- c.952-6715A>G Multiple submitters
- c.-289G>T Multiple submitters
- c.-294G>A Multiple submitters
- c.-42G>A Multiple submitters
- c.*16C>G Multiple submitters
- p.Arg7Lys Multiple submitters ⚠
- p.Asn499= Multiple submitters
- c.1048-223G>A Single submitter
- c.1089+173C>T Single submitter
- c.1434+28TC[11] Single submitter
- c.1434+28TC[12] Single submitter
- c.1434+45CA[4] Single submitter
- c.1434+76_1434+77insCATA Single submitter
- c.1434+9C>T Single submitter
- c.152+25dup Single submitter
- c.378+153C>T Single submitter
- c.378+154C>A Single submitter
- c.379-32T>G Single submitter GAPO syndrome
- c.561+100C>T Single submitter
- c.561+18del Single submitter
- c.703+217del Single submitter
- c.704-192T>C Single submitter
- c.803-7T>A Single submitter
- c.873-156A>G Single submitter
- p.Ala408= Single submitter
- p.Ala518= Single submitter
- p.Asn415= Single submitter
- p.Asp150= Single submitter
- p.Ser321= Single submitter
Benign/Likely benign 2
- p.Arg6= Multiple submitters
- p.Pro506Leu Multiple submitters Inborn genetic diseases ⚠
Likely benign 35
- c.1186-5T>A Single submitter
- c.152+17G>T Single submitter
- c.153-8T>C Single submitter
- c.224+20T>G Single submitter
- c.379-11A>G Single submitter
- c.379-13A>G Single submitter
- c.379-16T>A Single submitter
- c.379-20C>A Single submitter
- c.412+18A>G Single submitter
- c.492+16G>T Single submitter
- c.704-16T>C Single submitter
- c.704-20G>A Single submitter
- c.951+5487del Single submitter
- p.Ala326= Single submitter
- p.Arg397= Single submitter
- p.Arg480His Single submitter ⚠
- p.Asp253= Single submitter
- p.Gln296= Single submitter
- p.Gly204= Single submitter
- p.Gly464= Single submitter
- p.Leu433= Single submitter
- p.Leu454= Single submitter
- p.Leu540= Single submitter
- p.Pro421= Single submitter
- p.Pro443= Single submitter
- p.Pro534= Single submitter
- p.Ser504Thr Single submitter Inborn genetic diseases
- p.Thr513= Single submitter
- p.Tyr465= Single submitter
- p.Val240= Single submitter
- c.1089+2074G>T No assertion criteria ANTXR1-related disorder
- c.1089+2083T>C No assertion criteria ANTXR1-related disorder
- c.1089+2097AAG[2] No assertion criteria ANTXR1-related disorder
- p.Asn184= No assertion criteria ANTXR1-related disorder
- p.Asp203= No assertion criteria ANTXR1-related disorder
Uncertain significance 78
- p.Ala26Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg444Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg557Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly369Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu45Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro534Gln Multiple submitters Inborn genetic diseases ⚠
- p.Thr503Asn Multiple submitters Inborn genetic diseases ⚠
- p.Val144Ile Multiple submitters Inborn genetic diseases ⚠
- c.1435-12A>G Single submitter ANTXR1-related disorder
- c.561+2_561+5dup Single submitter
- p.Ala19Thr Single submitter Inborn genetic diseases ⚠
- p.Ala26Ser Single submitter Inborn genetic diseases ⚠
- p.Ala326Val Single submitter Inborn genetic diseases ⚠
- p.Ala4Thr Single submitter Inborn genetic diseases ⚠
- p.Ala500Thr Single submitter Inborn genetic diseases ⚠
- p.Ala528Pro Single submitter Inborn genetic diseases ⚠
- p.Ala528Thr Single submitter ⚠
- p.Ala8Thr Single submitter Inborn genetic diseases ⚠
- p.Arg103Cys Single submitter Inborn genetic diseases ⚠
- p.Arg103His Single submitter Inborn genetic diseases ⚠
- p.Arg247Gln Single submitter Inborn genetic diseases ⚠
- p.Arg397His Single submitter Inborn genetic diseases ⚠
- p.Arg431Gln Single submitter Inborn genetic diseases ⚠
- p.Arg438Cys Single submitter Inborn genetic diseases ⚠
- p.Arg438His Single submitter Inborn genetic diseases ⚠
- p.Arg439Gln Single submitter Inborn genetic diseases ⚠
- p.Arg557His Single submitter Inborn genetic diseases ⚠
- p.Arg557Leu Single submitter Inborn genetic diseases ⚠
- p.Arg557Pro Single submitter Inborn genetic diseases ⚠
- p.Arg561Lys Single submitter Inborn genetic diseases ⚠
- p.Arg88Gln Single submitter Inborn genetic diseases ⚠
- p.Asn498Ser Single submitter Inborn genetic diseases ⚠
- p.Asp182Asn Single submitter Inborn genetic diseases ⚠
- p.Asp263Asn Single submitter Inborn genetic diseases ⚠
- p.Asp34Asn Single submitter Inborn genetic diseases ⚠
- p.Asp34Val Single submitter Inborn genetic diseases ⚠
- p.Asp367Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys220Ser Single submitter GAPO syndrome ⚠
- p.Cys521Ser Single submitter Inborn genetic diseases ⚠
- p.Glu67Lys Single submitter Inborn genetic diseases ⚠
- p.Gly12Ser Single submitter Inborn genetic diseases ⚠
- p.Gly179Ala Single submitter Inborn genetic diseases ⚠
- p.Gly245Ser Single submitter Inborn genetic diseases ⚠
- p.Gly27Val Single submitter GAPO syndrome ⚠
- p.Gly30Val Single submitter Inborn genetic diseases ⚠
- p.His213Arg Single submitter Inborn genetic diseases ⚠
- p.His71Gln Single submitter Inborn genetic diseases ⚠
- p.Ile174Val Single submitter Inborn genetic diseases ⚠
- p.Ile285Thr Single submitter ⚠
- p.Ile311Met Single submitter Inborn genetic diseases ⚠
- p.Leu328Met Single submitter Inborn genetic diseases ⚠
- p.Leu540Ile Single submitter Inborn genetic diseases ⚠
- p.Met471Leu Single submitter Inborn genetic diseases ⚠
- p.Phe246Leu Single submitter Inborn genetic diseases ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro440Thr Single submitter Inborn genetic diseases ⚠
- p.Pro443Ala Single submitter Inborn genetic diseases ⚠
- p.Pro492Leu Single submitter ⚠
- p.Pro508Ser Single submitter Inborn genetic diseases ⚠
- p.Pro514Leu Single submitter Inborn genetic diseases ⚠
- p.Pro515Leu Single submitter Inborn genetic diseases ⚠
- p.Pro516Leu Single submitter Inborn genetic diseases ⚠
- p.Pro524Leu Single submitter Inborn genetic diseases ⚠
- p.Pro526Leu Single submitter Inborn genetic diseases ⚠
- p.Pro534Leu Single submitter Inborn genetic diseases ⚠
- p.Ser535Val Single submitter
- p.Thr20Asn Single submitter Inborn genetic diseases ⚠
- p.Thr277Ser Single submitter Inborn genetic diseases ⚠
- p.Thr478Met Single submitter Inborn genetic diseases ⚠
- p.Thr530Ile Single submitter Inborn genetic diseases ⚠
- p.Thr87Ile Single submitter Inborn genetic diseases ⚠
- p.Trp458Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr512fs Single submitter
- p.Val239Ala Single submitter Inborn genetic diseases ⚠
- p.Val388Ile Single submitter Inborn genetic diseases ⚠
- p.Val459Ile Single submitter ⚠
- p.Val564Leu Single submitter Inborn genetic diseases ⚠
- p.Ala456Val No assertion criteria ⚠