ESPNL — 257 ClinVar variants

All ClinVar germline ESPNL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

2 Benign · 13 Likely benign · 242 Uncertain significance

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

⚑ Evidence disagreements 243

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 lean, ClinVar uncertain 117

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

Predictors split 126

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

All ESPNL variants

Benign 2

p.Arg167Gln Multiple submitters
p.Arg351Cys Multiple submitters ⚠

Likely benign 13

c.*454G>A Single submitter
p.Ala483= Single submitter
p.Ala779Thr Single submitter
p.Arg20Gln Single submitter
p.Asn1002Ser Single submitter
p.Gly767Glu Single submitter
p.Gly960Ser Single submitter
p.Gly979Ser Single submitter
p.Ile397Thr Single submitter
p.Ile742Val Single submitter
p.Leu243= Single submitter
p.Leu733Pro Single submitter
p.Ser696Gly Single submitter

Uncertain significance 242

p.Ala112Ser Single submitter ⚠
p.Ala144Asp Single submitter ⚠
p.Ala144Thr Single submitter ⚠
p.Ala145Thr Single submitter ⚠
p.Ala159Thr Single submitter ⚠
p.Ala16Val Single submitter ⚠
p.Ala178Asp Single submitter ⚠
p.Ala196Thr Single submitter ⚠
p.Ala208Thr Single submitter ⚠
p.Ala213Val Single submitter ⚠
p.Ala214Thr Single submitter ⚠
p.Ala240Val Single submitter ⚠
p.Ala247Ser Single submitter ⚠
p.Ala307Val Single submitter ⚠
p.Ala311Val Single submitter ⚠
p.Ala320Thr Single submitter ⚠
p.Ala420Asp Single submitter ⚠
p.Ala460Thr Single submitter ⚠
p.Ala464Val Single submitter ⚠
p.Ala470Thr Single submitter ⚠
p.Ala534Ser Single submitter ⚠
p.Ala577Glu Single submitter ⚠
p.Ala690Gly Single submitter ⚠
p.Ala729Ser Single submitter ⚠
p.Ala771Thr Single submitter ⚠
p.Ala771Val Single submitter ⚠
p.Ala77Gly Single submitter ⚠
p.Ala78Thr Single submitter ⚠
p.Ala846Thr Single submitter ⚠
p.Ala924Thr Single submitter ⚠
p.Arg139Trp Single submitter ⚠
p.Arg166Gln Single submitter ⚠
p.Arg167Trp Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg201Cys Single submitter ⚠
p.Arg20Trp Single submitter ⚠
p.Arg215Cys Single submitter ⚠
p.Arg215Gly Single submitter ⚠
p.Arg215His Single submitter ⚠
p.Arg235Trp Single submitter ⚠
p.Arg248Pro Single submitter ⚠
p.Arg300Trp Single submitter ⚠
p.Arg317Trp Single submitter ⚠
p.Arg324Gln Single submitter ⚠
p.Arg324Trp Single submitter ⚠
p.Arg350Lys Single submitter ⚠
p.Arg357Lys Single submitter ⚠
p.Arg442Gly Single submitter ⚠
p.Arg521Cys Single submitter ⚠
p.Arg522Cys Single submitter ⚠
p.Arg522His Single submitter ⚠
p.Arg532Gln Single submitter ⚠
p.Arg557Gln Single submitter ⚠
p.Arg557Trp Single submitter ⚠
p.Arg58Gln Single submitter ⚠
p.Arg58Trp Single submitter ⚠
p.Arg598His Single submitter ⚠
p.Arg601Cys Single submitter ⚠
p.Arg601His Single submitter ⚠
p.Arg623Trp Single submitter ⚠
p.Arg638Gln Single submitter ⚠
p.Arg656Gln Single submitter ⚠
p.Arg656Trp Single submitter ⚠
p.Arg66Gln Single submitter ⚠
p.Arg66Trp Single submitter ⚠
p.Arg737Cys Single submitter ⚠
p.Arg740Cys Single submitter ⚠
p.Arg740His Single submitter ⚠
p.Arg769Cys Single submitter ⚠
p.Arg774Gln Single submitter ⚠
p.Arg793Gln Single submitter ⚠
p.Arg801His Single submitter ⚠
p.Arg821Trp Single submitter ⚠
p.Arg824Trp Single submitter ⚠
p.Arg828Gln Single submitter ⚠
p.Arg828Trp Single submitter ⚠
p.Arg831His Single submitter ⚠
p.Arg875Gln Single submitter ⚠
p.Arg875Leu Single submitter ⚠
p.Arg878Cys Single submitter ⚠
p.Arg898His Single submitter ⚠
p.Arg913Trp Single submitter ⚠
p.Arg925His Single submitter ⚠
p.Arg925Ser Single submitter ⚠
p.Arg941Cys Single submitter ⚠
p.Arg941His Single submitter ⚠
p.Arg967Gln Single submitter ⚠
p.Arg971Cys Single submitter ⚠
p.Arg971Leu Single submitter ⚠
p.Arg988Cys Single submitter ⚠
p.Asn165Ser Single submitter ⚠
p.Asn237Ser Single submitter ⚠
p.Asn670Tyr Single submitter ⚠
p.Asn978Asp Single submitter ⚠
p.Asn987Ser Single submitter ⚠
p.Asp12His Single submitter ⚠
p.Asp149Glu Single submitter ⚠
p.Asp309Glu Single submitter ⚠
p.Asp414Tyr Single submitter ⚠
p.Asp425Gly Single submitter ⚠
p.Asp425Val Single submitter ⚠
p.Asp433Asn Single submitter ⚠
p.Asp505Gly Single submitter ⚠
p.Asp627Asn Single submitter ⚠
p.Asp627Tyr Single submitter ⚠
p.Asp707Asn Single submitter ⚠
p.Asp76Val Single submitter ⚠
p.Asp869Val Single submitter ⚠
p.Cys287Arg Single submitter ⚠
p.Cys319Tyr Single submitter ⚠
p.Cys868Tyr Single submitter ⚠
p.Gln644His Single submitter ⚠
p.Gln864His Single submitter ⚠
p.Glu181Asp Single submitter ⚠
p.Glu500Asp Single submitter ⚠
p.Glu543Lys Single submitter ⚠
p.Glu562Asp Single submitter ⚠
p.Glu564Gly Single submitter ⚠
p.Glu640Lys Single submitter ⚠
p.Glu660Lys Single submitter ⚠
p.Glu675Lys Single submitter ⚠
p.Glu702Lys Single submitter ⚠
p.Glu85Lys Single submitter ⚠
p.Glu867Val Single submitter ⚠
p.Glu907Lys Single submitter ⚠
p.Gly13Ala Single submitter ⚠
p.Gly250Ser Single submitter ⚠
p.Gly25Ser Single submitter ⚠
p.Gly282Arg Single submitter ⚠
p.Gly28Asp Single submitter ⚠
p.Gly304Asp Single submitter ⚠
p.Gly30Val Single submitter ⚠
p.Gly430Asp Single submitter ⚠
p.Gly434Val Single submitter ⚠
p.Gly443Ser Single submitter ⚠
p.Gly463Arg Single submitter ⚠
p.Gly463Asp Single submitter ⚠
p.Gly463Ser Single submitter ⚠
p.Gly475Arg Single submitter ⚠
p.Gly585Arg Single submitter ⚠
p.Gly63Ser Single submitter ⚠
p.Gly649Arg Single submitter ⚠
p.Gly668Val Single submitter ⚠
p.Gly672Ser Single submitter ⚠
p.Gly686Ala Single submitter ⚠
p.Gly70Arg Single submitter ⚠
p.Gly845Arg Single submitter ⚠
p.Gly893Cys Single submitter ⚠
p.Gly911Ser Single submitter ⚠
p.Gly93Trp Single submitter ⚠
p.Gly940Ala Single submitter ⚠
p.Gly975Ser Single submitter ⚠
p.Gly984Ser Single submitter ⚠
p.His109Gln Single submitter ⚠
p.His210Gln Single submitter ⚠
p.His251Tyr Single submitter ⚠
p.His42Gln Single submitter ⚠
p.His842Gln Single submitter ⚠
p.Ile446Val Single submitter ⚠
p.Ile741Val Single submitter ⚠
p.Ile922Val Single submitter ⚠
p.Leu209Arg Single submitter ⚠
p.Leu266Pro Single submitter ⚠
p.Leu383Phe Single submitter ⚠
p.Leu510Val Single submitter ⚠
p.Leu603Pro Single submitter ⚠
p.Leu603Val Single submitter ⚠
p.Leu766Val Single submitter ⚠
p.Leu797Pro Single submitter ⚠
p.Met261Ile Single submitter ⚠
p.Met388Ile Single submitter ⚠
p.Phe1001Leu Single submitter ⚠
p.Phe189Leu Single submitter ⚠
p.Phe227Leu Single submitter ⚠
p.Phe554Tyr Single submitter ⚠
p.Pro107Leu Single submitter ⚠
p.Pro117Arg Single submitter ⚠
p.Pro140Leu Single submitter ⚠
p.Pro297Arg Single submitter ⚠
p.Pro329Leu Single submitter ⚠
p.Pro329Ser Single submitter ⚠
p.Pro331Thr Single submitter ⚠
p.Pro336Leu Single submitter ⚠
p.Pro338Gln Single submitter ⚠
p.Pro340Leu Single submitter ⚠
p.Pro373Leu Single submitter ⚠
p.Pro379Leu Single submitter ⚠
p.Pro391Gln Single submitter ⚠
p.Pro542Ser Single submitter ⚠
p.Pro544Thr Single submitter ⚠
p.Pro624Ala Single submitter ⚠
p.Pro636Ser Single submitter ⚠
p.Pro637Ser Single submitter ⚠
p.Pro676Leu Single submitter ⚠
p.Pro689Leu Single submitter ⚠
p.Pro756Leu Single submitter ⚠
p.Pro819Thr Single submitter ⚠
p.Pro871Arg Single submitter ⚠
p.Pro939Ala Single submitter ⚠
p.Pro957Ser Single submitter ⚠
p.Ser129Leu Single submitter ⚠
p.Ser477Pro Single submitter ⚠
p.Ser576Thr Single submitter ⚠
p.Ser594Asn Single submitter ⚠
p.Ser835Phe Single submitter ⚠
p.Ser835Tyr Single submitter ⚠
p.Ser929Phe Single submitter ⚠
p.Ser959Cys Single submitter ⚠
p.Thr226Lys Single submitter ⚠
p.Thr233Met Single submitter ⚠
p.Thr241Pro Single submitter ⚠
p.Thr289Ala Single submitter ⚠
p.Thr349Arg Single submitter ⚠
p.Thr349Met Single submitter ⚠
p.Thr415Ile Single submitter ⚠
p.Thr480Met Single submitter ⚠
p.Thr503Pro Single submitter ⚠
p.Thr549Met Single submitter ⚠
p.Thr628Pro Single submitter ⚠
p.Thr760Ile Single submitter ⚠
p.Thr803Ser Single submitter ⚠
p.Thr905Asn Single submitter ⚠
p.Thr937Met Single submitter ⚠
p.Trp223Leu Single submitter ⚠
p.Trp648Arg Single submitter ⚠
p.Trp648Ser Single submitter ⚠
p.Trp811Arg Single submitter ⚠
p.Trp88Cys Single submitter ⚠
p.Val146Ile Single submitter ⚠
p.Val15Ala Single submitter ⚠
p.Val164Met Single submitter ⚠
p.Val191Ala Single submitter ⚠
p.Val222Ile Single submitter ⚠
p.Val326Leu Single submitter ⚠
p.Val52Gly Single submitter ⚠
p.Val52Ile Single submitter ⚠
p.Val550Ile Single submitter ⚠
p.Val586Leu Single submitter ⚠
p.Val721Met Single submitter ⚠
p.Val843Met Single submitter ⚠
p.Val904Ala Single submitter ⚠
p.Val956Ile Single submitter ⚠