AXL — 286 ClinVar variants
All ClinVar germline AXL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
1 Likely pathogenic · 5 Conflicting · 60 Benign · 1 Benign/Likely benign · 81 Likely benign · 138 Uncertain significance
Full AXL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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.
Predictors lean, ClinVar uncertain 92
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AXL p.Arg217His
Uncertain significance
Multiple submitters
AXL-related disorder
- AXL p.Pro833Arg Uncertain significance Multiple submitters
- AXL p.Ala151Val Uncertain significance Single submitter
- AXL p.Ala244Gly Uncertain significance Single submitter
- AXL p.Ala273Val Uncertain significance Single submitter
- AXL p.Ala2Val Uncertain significance Single submitter
- AXL p.Ala457Val Uncertain significance Single submitter
- AXL p.Ala511Thr Uncertain significance Single submitter
- AXL p.Ala813Thr Uncertain significance Single submitter
- AXL p.Ala880Thr Uncertain significance Single submitter
- AXL p.Arg236His Uncertain significance Single submitter
- AXL p.Arg295Trp Uncertain significance Single submitter
- AXL p.Arg357Gln Uncertain significance Single submitter
- AXL p.Arg357Trp Uncertain significance Single submitter
- AXL p.Arg48Pro Uncertain significance Single submitter
- AXL p.Arg48Trp Uncertain significance Single submitter
- AXL p.Arg4Gln Uncertain significance Single submitter
- AXL p.Arg527Gln Uncertain significance Single submitter
- AXL p.Arg610Leu Uncertain significance Single submitter
- AXL p.Arg671Gln Uncertain significance Single submitter
- AXL p.Arg71Gln Uncertain significance Single submitter
- AXL p.Arg763Cys Uncertain significance Single submitter
- AXL p.Arg784Gln Uncertain significance Single submitter
- AXL p.Arg800Gln Uncertain significance Single submitter
- AXL p.Asn401Ser Uncertain significance Single submitter
- AXL p.Asn699Ser Uncertain significance Single submitter
- AXL p.Asp639Gly Uncertain significance Single submitter
- AXL p.Asp773Gly Uncertain significance Single submitter
- AXL p.Asp776Glu Uncertain significance Single submitter
- AXL p.Asp841Glu Uncertain significance Single submitter
- AXL p.Gln272His Uncertain significance Single submitter
- AXL p.Gln436His Uncertain significance Single submitter
- AXL p.Gln647Glu Uncertain significance Single submitter
- AXL p.Glu146Lys Uncertain significance Single submitter
- AXL p.Glu281Gln Uncertain significance Single submitter
- AXL p.Glu493Gln Uncertain significance Single submitter
- AXL p.Glu891Gln Uncertain significance Single submitter
- AXL p.Gly196Glu Uncertain significance Single submitter
- AXL p.Gly274Glu Uncertain significance Single submitter
- AXL p.Gly297Asp Uncertain significance Single submitter
- AXL p.Gly331Glu Uncertain significance Single submitter
- AXL p.Gly366Arg Uncertain significance Single submitter
- AXL p.Gly413Glu Uncertain significance Single submitter
- AXL p.Gly553Ser Uncertain significance Single submitter
- AXL p.Gly835Val Uncertain significance Single submitter
- AXL p.His302Leu Uncertain significance Single submitter
- AXL p.His534Gln Uncertain significance Single submitter
- AXL p.Ile252Val Uncertain significance Single submitter
- AXL p.Ile44Val Uncertain significance Single submitter
- AXL p.Ile573Val Uncertain significance Single submitter
- AXL p.Ile656Val Uncertain significance Single submitter
- AXL p.Ile669Met Uncertain significance Single submitter
- AXL p.Ile75Thr Uncertain significance Single submitter
- AXL p.Leu538Pro Uncertain significance Single submitter
- AXL p.Leu58Val Uncertain significance Single submitter
- AXL p.Met269Arg Uncertain significance Single submitter
- AXL p.Met381Arg Uncertain significance Single submitter
-
AXL p.Met530Val
Uncertain significance
Single submitter
congenital hypogonadotropic hypogonadism
- AXL p.Met569Thr Uncertain significance Single submitter
- AXL p.Met824Val Uncertain significance Single submitter
- AXL p.Pro12Leu Uncertain significance Single submitter
- AXL p.Pro165Ala Uncertain significance Single submitter
- AXL p.Pro279Gln Uncertain significance Single submitter
- AXL p.Pro27Leu Uncertain significance Single submitter
- AXL p.Pro27Ser Uncertain significance Single submitter
- AXL p.Pro282Leu Uncertain significance Single submitter
- AXL p.Pro329Leu Uncertain significance Single submitter
- AXL p.Pro64Leu Uncertain significance Single submitter
- AXL p.Ser202Ala Uncertain significance Single submitter
- AXL p.Ser250Asn Uncertain significance Single submitter
- AXL p.Ser400Tyr Uncertain significance Single submitter
- AXL p.Ser442Ala Uncertain significance Single submitter
- AXL p.Ser519Asn Uncertain significance Single submitter
- AXL p.Ser851Thr Uncertain significance Single submitter
- AXL p.Thr112Met Uncertain significance Single submitter
- AXL p.Thr154Asn Uncertain significance Single submitter
- AXL p.Thr214Ile Uncertain significance Single submitter
- AXL p.Thr256Ala Uncertain significance Single submitter
- AXL p.Thr312Ile Uncertain significance Single submitter
- AXL p.Thr575Met Uncertain significance Single submitter
- AXL p.Thr646Ile Uncertain significance Single submitter
- AXL p.Thr856Ser Uncertain significance Single submitter
- AXL p.Trp323Arg Uncertain significance Single submitter
- AXL p.Val127Leu Uncertain significance Single submitter
- AXL p.Val213Ile Uncertain significance Single submitter
- AXL p.Val38Met Uncertain significance Single submitter
- AXL p.Val459Met Uncertain significance Single submitter
- AXL p.Val464Ala Uncertain significance Single submitter
- AXL p.Val484Ala Uncertain significance Single submitter
- AXL p.Val489Leu Uncertain significance Single submitter
- AXL p.Val60Ile Uncertain significance Single submitter
- AXL p.Val686Met Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- AXL p.Gln361Pro Likely benign Multiple submitters
- AXL p.Ala219Gly Uncertain significance Single submitter
- AXL p.Ala262Thr Benign Single submitter
- AXL p.Ala262Val Uncertain significance Single submitter
- AXL p.Ala675Ser Uncertain significance Single submitter
- AXL p.Ala709Thr Uncertain significance Single submitter
- AXL p.Arg533Trp Uncertain significance Single submitter
- AXL p.Arg724His Uncertain significance Single submitter
- AXL p.Arg784Trp Uncertain significance Single submitter
- AXL p.Asp528Asn Uncertain significance Single submitter
- AXL p.Gln116Lys Uncertain significance Single submitter
- AXL p.Gln647Pro Uncertain significance Single submitter
- AXL p.Glu544Asp Uncertain significance Single submitter
- AXL p.Glu757Gly Uncertain significance Single submitter
- AXL p.Gly602Ser Uncertain significance Single submitter
- AXL p.His208Pro Uncertain significance Single submitter
- AXL p.His292Asp Uncertain significance Single submitter
- AXL p.Leu54Ile Uncertain significance Single submitter
- AXL p.Leu693Phe Uncertain significance Single submitter
- AXL p.Lys523Met Uncertain significance Single submitter
- AXL p.Phe126Ser Uncertain significance Single submitter
- AXL p.Pro614Ser Uncertain significance Single submitter
- AXL p.Ser314Asn Uncertain significance Single submitter
- AXL p.Ser341Cys Uncertain significance Single submitter
- AXL p.Ser81Gly Uncertain significance Single submitter
- AXL p.Thr239Met Uncertain significance Single submitter
- AXL p.Thr376Pro Uncertain significance Single submitter
- AXL p.Tyr504Cys Uncertain significance Single submitter
- AXL p.Val169Met Uncertain significance Single submitter
-
AXL p.Arg475Gln
Uncertain significance
No assertion criteria
AXL-related disorder
All AXL variants
Likely pathogenic 1
- p.Leu721Val No assertion criteria NK-cell enteropathy
Conflicting classifications of pathogenicity 5
- c.1446-5C>G Single submitter
- p.Ala79Val Single submitter ⚠
- p.Asn805Thr Single submitter ⚠
- p.Ser285Leu Single submitter ⚠
- p.Thr443Ala Single submitter ⚠
Benign 60
- c.1135-238C>T Multiple submitters
- c.1285+62C>G Multiple submitters
- c.1286-159G>A Multiple submitters
- c.1286-185C>T Multiple submitters
- c.1286-59G>A Multiple submitters
- c.1313-35T>C Multiple submitters
- c.1926+8G>C Multiple submitters
- c.1927-30C>T Multiple submitters
- c.2036+24C>T Multiple submitters
- c.2196+9A>G Multiple submitters
- c.2333+97A>G Multiple submitters
- c.2334-51A>C Multiple submitters
- c.409+46C>T Multiple submitters
- c.410-156T>C Multiple submitters
- c.410-293C>A Multiple submitters
- c.667+65G>A Multiple submitters
- c.783+126G>T Multiple submitters
- c.783+141C>T Multiple submitters
- c.783+17T>C Multiple submitters
- c.783+207C>T Multiple submitters
- c.783+211G>A Multiple submitters
- c.85+28G>A Multiple submitters
- c.86-87G>A Multiple submitters
- c.994+42G>T Multiple submitters
- c.-27A>G Multiple submitters
- p.Asp266= Multiple submitters
- p.Asp817= Multiple submitters
- p.Pro145= Multiple submitters
- p.Pro831= Multiple submitters
- p.Pro876= Multiple submitters
- p.Ser250= Multiple submitters
- c.1286-111_1286-87del Single submitter
- c.1312+305C>T Single submitter
- c.1445+125C>T Single submitter
- c.1445+128G>T Single submitter
- c.1446-9C>T Single submitter
- c.1538-202G>T Single submitter
- c.1712-14C>T Single submitter
- c.1712-209_1712-208del Single submitter
- c.1712-223del Single submitter
- c.2036+28_2036+30del Single submitter
- c.2036+29_2036+30del Single submitter
- c.2036+30del Single submitter
- c.2036+30dup Single submitter
- c.2196+154T>C Single submitter
- c.2196+184del Single submitter
- c.2334-229T>C Single submitter
- c.410-16C>T Single submitter
- c.668-12G>A Single submitter
- c.995-20C>A Single submitter
- p.Ala262Thr Single submitter ⚠
- p.Ala549= Single submitter
- p.Leu174= Single submitter
- p.Leu180= Single submitter
- p.Leu721= Single submitter
- p.Phe691= Single submitter
- p.Ser288= Single submitter
- p.Thr149Ala Single submitter
- p.Thr328= Single submitter
- p.Trp448Leu Single submitter
Benign/Likely benign 1
- c.2037-10A>C Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
Likely benign 81
- c.309-7C>T Multiple submitters
- p.Arg763His Multiple submitters
- p.Asp558= Multiple submitters
- p.Gln361Pro Multiple submitters ⚠
- p.Gly517Ser Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Leu768= Multiple submitters
- c.1134+7G>C Single submitter
- c.1135-8C>T Single submitter
- c.1285+19C>T Single submitter
- c.1312+13A>G Single submitter
- c.1313-14A>T Single submitter
- c.1313-6del Single submitter
- c.1446-5C>A Single submitter
- c.1537+10C>T Single submitter
- c.1537+19C>T Single submitter
- c.1633+12G>A Single submitter
- c.1633+15A>G Single submitter
- c.1633+19T>C Single submitter
- c.1634-12G>C Single submitter
- c.1711+16A>G Single submitter
- c.1711+9C>T Single submitter
- c.1712-7C>T Single submitter
- c.1804+14A>C Single submitter
- c.1804+7G>T Single submitter
- c.1926+10G>A Single submitter
- c.2036+29_2036+30dup Single submitter
- c.2196+15G>A Single submitter
- c.2333+16T>C Single submitter
- c.308+14T>G Single submitter
- c.410-11C>T Single submitter
- c.410-5G>A Single submitter
- c.586+18G>C Single submitter
- c.587-14A>G Single submitter
- c.587-6C>T Single submitter
- c.667+16G>C Single submitter
- c.86-13A>C Single submitter
- c.86-4C>G Single submitter
- c.995-14T>C Single submitter
- p.Ala18= Single submitter
- p.Ala181Ser Single submitter
- p.Ala18Val Single submitter
- p.Ala358= Single submitter
- p.Ala370= Single submitter
- p.Ala674= Single submitter
- p.Ala857= Single submitter
- p.Arg229His Single submitter
- p.Arg308= Single submitter
- p.Asp655= Single submitter
- p.Cys20= Single submitter
- p.Gln286= Single submitter
- p.Gly397Arg Single submitter
- p.His186= Single submitter
- p.Ile340Val Single submitter
- p.Ile656= Single submitter
- p.Ile708= Single submitter
- p.Leu135= Single submitter
- p.Leu260= Single submitter
- p.Leu50Phe Single submitter
- p.Lys439= Single submitter
- p.Lys729= Single submitter
- p.Phe37= Single submitter
- p.Phe735= Single submitter
- p.Pro254= Single submitter
- p.Ser191Thr Single submitter
- p.Ser285= Single submitter
- p.Ser400Pro Single submitter
- p.Ser734= Single submitter
- p.Ser756= Single submitter
- p.Thr239= Single submitter
- p.Thr30= Single submitter
- p.Thr51= Single submitter
- p.Thr568= Single submitter
- p.Val194Ile Single submitter
- p.Val289Met Single submitter
- p.Val351Leu Single submitter
- p.Val458= Single submitter
- c.410-7C>T No assertion criteria AXL-related disorder
- p.Ala151= No assertion criteria AXL-related disorder
- p.Leu264= No assertion criteria AXL-related disorder
- p.Leu364= No assertion criteria AXL-related disorder
- p.Pro12= No assertion criteria AXL-related disorder
Uncertain significance 138
- p.Arg217His Multiple submitters AXL-related disorder ⚠
- p.Glu818Lys Multiple submitters
- p.Pro833Arg Multiple submitters ⚠
- c.1537+5G>A Single submitter
- c.1926+6G>A Single submitter
- c.995-6C>T Single submitter
- p.Ala151Val Single submitter ⚠
- p.Ala219Gly Single submitter ⚠
- p.Ala244Gly Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala273Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala457Val Single submitter ⚠
- p.Ala511Thr Single submitter ⚠
- p.Ala675Ser Single submitter ⚠
- p.Ala709Thr Single submitter ⚠
- p.Ala813Thr Single submitter ⚠
- p.Ala880Thr Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg295Trp Single submitter ⚠
- p.Arg357Gln Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Arg48Pro Single submitter ⚠
- p.Arg48Trp Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg533Trp Single submitter ⚠
- p.Arg610Leu Single submitter ⚠
- p.Arg671Gln Single submitter ⚠
- p.Arg71Gln Single submitter ⚠
- p.Arg724His Single submitter ⚠
- p.Arg763Cys Single submitter ⚠
- p.Arg784Gln Single submitter ⚠
- p.Arg784Trp Single submitter ⚠
- p.Arg800Gln Single submitter ⚠
- p.Asn401Ser Single submitter ⚠
- p.Asn699Ser Single submitter ⚠
- p.Asp528Asn Single submitter ⚠
- p.Asp639Gly Single submitter ⚠
- p.Asp639His Single submitter
- p.Asp773Gly Single submitter ⚠
- p.Asp776Glu Single submitter ⚠
- p.Asp841Glu Single submitter ⚠
- p.Gln116Lys Single submitter ⚠
- p.Gln175fs Single submitter
- p.Gln272His Single submitter ⚠
- p.Gln436His Single submitter ⚠
- p.Gln647Glu Single submitter ⚠
- p.Gln647Pro Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu281Gln Single submitter ⚠
- p.Glu493Gln Single submitter ⚠
- p.Glu544Asp Single submitter ⚠
- p.Glu682Asp Single submitter
- p.Glu757Gly Single submitter ⚠
- p.Glu891Gln Single submitter ⚠
- p.Gly196Glu Single submitter ⚠
- p.Gly274Glu Single submitter ⚠
- p.Gly297Asp Single submitter ⚠
- p.Gly331Glu Single submitter ⚠
- p.Gly366Arg Single submitter ⚠
- p.Gly413Glu Single submitter ⚠
- p.Gly553Ser Single submitter ⚠
- p.Gly602Ser Single submitter ⚠
- p.Gly736_Val737insTer Single submitter AXL-related disorder
- p.Gly835Val Single submitter ⚠
- p.His208Pro Single submitter ⚠
- p.His292Asp Single submitter ⚠
- p.His302Leu Single submitter ⚠
- p.His534Gln Single submitter ⚠
- p.His670fs Single submitter
- p.Ile252Val Single submitter ⚠
- p.Ile44Val Single submitter ⚠
- p.Ile573Leu Single submitter Genetic non-acquired premature ovarian failure
- p.Ile573Val Single submitter ⚠
- p.Ile601= Single submitter
- p.Ile656Val Single submitter ⚠
- p.Ile669Met Single submitter ⚠
- p.Ile75Thr Single submitter ⚠
- p.Leu538Pro Single submitter ⚠
- p.Leu54Ile Single submitter ⚠
- p.Leu58Val Single submitter ⚠
- p.Leu693Phe Single submitter ⚠
- p.Leu803= Single submitter
- p.Lys523Met Single submitter ⚠
- p.Met1Arg Single submitter
- p.Met269Arg Single submitter ⚠
- p.Met381Arg Single submitter ⚠
- p.Met530Val Single submitter congenital hypogonadotropic hypogonadism ⚠
- p.Met569Thr Single submitter ⚠
- p.Met824Thr Single submitter
- p.Met824Val Single submitter ⚠
- p.Phe126Ser Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro165Ala Single submitter ⚠
- p.Pro279Gln Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro282Leu Single submitter ⚠
- p.Pro329Leu Single submitter ⚠
- p.Pro614Ser Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Ser202Ala Single submitter ⚠
- p.Ser250Asn Single submitter ⚠
- p.Ser314Asn Single submitter ⚠
- p.Ser341Cys Single submitter ⚠
- p.Ser400Tyr Single submitter ⚠
- p.Ser442Ala Single submitter ⚠
- p.Ser519Asn Single submitter ⚠
- p.Ser81Gly Single submitter ⚠
- p.Ser851Thr Single submitter ⚠
- p.Thr112Met Single submitter ⚠
- p.Thr154Asn Single submitter ⚠
- p.Thr214Ile Single submitter ⚠
- p.Thr239Met Single submitter ⚠
- p.Thr256Ala Single submitter ⚠
- p.Thr312Ile Single submitter ⚠
- p.Thr376Pro Single submitter ⚠
- p.Thr575Met Single submitter ⚠
- p.Thr646Ile Single submitter ⚠
- p.Thr856Ser Single submitter ⚠
- p.Trp323Arg Single submitter ⚠
- p.Tyr504Cys Single submitter ⚠
- p.Val119= Single submitter
- p.Val127Leu Single submitter ⚠
- p.Val169Met Single submitter ⚠
- p.Val213Ile Single submitter ⚠
- p.Val38Met Single submitter ⚠
- p.Val459Met Single submitter ⚠
- p.Val464Ala Single submitter ⚠
- p.Val484Ala Single submitter ⚠
- p.Val489Leu Single submitter ⚠
- p.Val60Ile Single submitter ⚠
- p.Val686Met Single submitter ⚠
- p.Val753Met Single submitter
- p.Arg475Gln No assertion criteria AXL-related disorder ⚠
- p.His292fs No assertion criteria amenorrhea
- p.Ser191Pro No assertion criteria AXL-related disorder