Sugi Variant

Sugi Variant/EPCAM

EPCAM — 906 ClinVar variants

All ClinVar germline EPCAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 476 flagged for review →

34 Pathogenic · 5 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 14 Conflicting · 35 Benign · 19 Benign/Likely benign · 248 Likely benign · 539 Uncertain significance

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

⚑ Evidence disagreements 476

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 10

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

Predictors lean, ClinVar uncertain 360

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 360

Predictors split 106

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

All EPCAM variants

Pathogenic 34

Pathogenic/Likely pathogenic 5

  • c.556-14A>G Multiple submitters EPCAM-related disorders
  • p.Arg125fs Multiple submitters congenital diarrhea 5 with tufting enteropathy
  • p.Gln5Ter Multiple submitters congenital diarrhea 5 with tufting enteropathy
  • p.Glu25Ter Multiple submitters
  • p.Gly103Arg No assertion criteria

Likely pathogenic 12

  • p.Met1Val Multiple submitters EPCAM-related disorder
  • c.185-1G>C Single submitter
  • c.859-1G>A Single submitter
  • c.904-2A>G Single submitter
  • p.Gln204Ter Single submitter congenital diarrhea 5 with tufting enteropathy
  • p.Glu147Ter Single submitter congenital diarrhea 5 with tufting enteropathy
  • p.Ile249fs Single submitter EPCAM-related disorders
  • p.Lys202fs Single submitter Lynch syndrome
  • p.Ser76fs Single submitter congenital diarrhea 5 with tufting enteropathy
  • p.Val190fs Single submitter congenital diarrhea 5 with tufting enteropathy
  • p.Val28_Cys29del Single submitter congenital diarrhea 5 with tufting enteropathy
  • c.904-1_904del No assertion criteria Lynch syndrome 1

Conflicting classifications of pathogenicity 14

Benign 35

Benign/Likely benign 19

  • c.491+19A>T Multiple submitters congenital diarrhea 5 with tufting enteropathy
  • c.492-5T>C Multiple submitters hereditary neoplastic syndrome
  • c.556-19_556-17del Multiple submitters
  • c.657+10A>G Multiple submitters
  • c.76+6G>T Multiple submitters hereditary neoplastic syndrome
  • c.77-11T>A Multiple submitters hereditary neoplastic syndrome
  • c.904-12T>C Multiple submitters Lynch syndrome 8
  • c.*265A>T Multiple submitters
  • p.Ala2Val Multiple submitters Lynch syndrome 8
  • p.Ala53= Multiple submitters hereditary neoplastic syndrome
  • p.Arg153Thr Multiple submitters Lynch syndrome 8
  • p.Gln167= Multiple submitters hereditary neoplastic syndrome
  • p.Gln45= Multiple submitters hereditary neoplastic syndrome
  • p.Ile277Met Multiple submitters hereditary neoplastic syndrome
  • p.Leu286= Multiple submitters hereditary neoplastic syndrome
  • p.Met115Thr Multiple submitters hereditary neoplastic syndrome
  • p.Thr172Met Multiple submitters hereditary neoplastic syndrome
  • p.Thr17Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val36Ile Multiple submitters

Likely benign 248

  • c.184+57T>C Multiple submitters
  • c.185-88T>G Multiple submitters
  • c.658-9del Multiple submitters
  • c.858+78T>C Multiple submitters
  • c.903+9A>T Multiple submitters
  • c.*16A>G Multiple submitters
  • p.Ala18= Multiple submitters hereditary neoplastic syndrome
  • p.Ala35= Multiple submitters hereditary neoplastic syndrome
  • p.Asn111= Multiple submitters hereditary neoplastic syndrome
  • p.Asn120= Multiple submitters hereditary neoplastic syndrome
  • p.Asn31Lys Multiple submitters Lynch syndrome 8
  • p.Asn55= Multiple submitters hereditary neoplastic syndrome
  • p.Asn74= Multiple submitters hereditary neoplastic syndrome
  • p.Asp130= Multiple submitters hereditary neoplastic syndrome
  • p.Asp243= Multiple submitters hereditary neoplastic syndrome
  • p.Cys99= Multiple submitters hereditary neoplastic syndrome
  • p.Gln47= Multiple submitters hereditary neoplastic syndrome
  • p.Gln89= Multiple submitters hereditary neoplastic syndrome
  • p.Glu254= Multiple submitters hereditary neoplastic syndrome
  • p.Glu307= Multiple submitters hereditary neoplastic syndrome
  • p.Leu148= Multiple submitters hereditary neoplastic syndrome
  • p.Leu162= Multiple submitters hereditary neoplastic syndrome
  • p.Lys33= Multiple submitters hereditary neoplastic syndrome
  • p.Ser102= Multiple submitters hereditary neoplastic syndrome
  • p.Ser114= Multiple submitters hereditary neoplastic syndrome
  • p.Thr172= Multiple submitters hereditary neoplastic syndrome
  • p.Thr49= Multiple submitters Lynch syndrome
  • p.Tyr186= Multiple submitters hereditary neoplastic syndrome
  • c.184+15C>G Single submitter
  • c.185-15A>G Single submitter
  • c.185-3C>T Single submitter
  • c.185-9C>A Single submitter
  • c.425+17A>G Single submitter
  • c.426-177C>T Single submitter
  • c.491+10A>G Single submitter
  • c.492-19G>C Single submitter
  • c.492-8C>T Single submitter congenital diarrhea 5 with tufting enteropathy
  • c.555+276C>T Single submitter
  • c.555+7T>A Single submitter
  • c.556-14A>C Single submitter
  • c.556-14A>T Single submitter
  • c.556-23del Single submitter
  • c.556-8T>A Single submitter
  • c.657+15_657+17del Single submitter
  • c.657+169A>G Single submitter
  • c.658-15_658-8del Single submitter Hereditary cancer
  • c.76+14T>C Single submitter
  • c.76+46_76+47insCGGGG Single submitter
  • c.77-11del Single submitter
  • c.77-232A>C Single submitter
  • c.858+13C>T Single submitter
  • c.903+15T>C Single submitter
  • c.903+17C>A Single submitter
  • c.903+191C>A Single submitter
  • c.903+232A>G Single submitter
  • c.903+49T>A Single submitter
  • c.903+7G>T Single submitter
  • c.904-132A>G Single submitter
  • c.904-30A>T Single submitter
  • c.904-7G>C Single submitter
  • c.-20C>T Single submitter
  • c.-247G>C Single submitter
  • c.-2G>A Single submitter
  • c.-98C>G Single submitter
  • c.*108T>G Single submitter
  • c.*145A>G Single submitter
  • c.*176A>G Single submitter
  • c.*234T>G Single submitter
  • c.*246G>A Single submitter
  • c.*257T>G Single submitter
  • c.*261G>C Single submitter
  • c.*302A>G Single submitter
  • c.*336C>A Single submitter
  • c.*339_*342del Single submitter
  • c.*344T>A Single submitter
  • c.*73C>T Single submitter
  • c.*74G>A Single submitter
  • p.Ala107= Single submitter hereditary neoplastic syndrome
  • p.Ala14= Single submitter hereditary neoplastic syndrome
  • p.Ala15= Single submitter hereditary neoplastic syndrome
  • p.Ala152Thr Single submitter hereditary neoplastic syndrome
  • p.Ala16= Single submitter hereditary neoplastic syndrome
  • p.Ala165= Single submitter hereditary neoplastic syndrome
  • p.Ala2= Single submitter hereditary neoplastic syndrome
  • p.Ala21= Single submitter hereditary neoplastic syndrome
  • p.Ala213= Single submitter hereditary neoplastic syndrome
  • p.Ala22= Single submitter hereditary neoplastic syndrome
  • p.Ala256= Single submitter hereditary neoplastic syndrome
  • p.Ala256Pro Single submitter hereditary neoplastic syndrome
  • p.Ala270= Single submitter
  • p.Ala278= Single submitter hereditary neoplastic syndrome
  • p.Ala281= Single submitter hereditary neoplastic syndrome
  • p.Ala300= Single submitter hereditary neoplastic syndrome
  • p.Ala63= Single submitter hereditary neoplastic syndrome
  • p.Ala64= Single submitter hereditary neoplastic syndrome
  • p.Ala71= Single submitter hereditary neoplastic syndrome
  • p.Ala8= Single submitter hereditary neoplastic syndrome
  • p.Ala82= Single submitter hereditary neoplastic syndrome
  • p.Ala87= Single submitter hereditary neoplastic syndrome
  • p.Arg126= Single submitter hereditary neoplastic syndrome
  • p.Arg153= Single submitter hereditary neoplastic syndrome
  • p.Arg163= Single submitter hereditary neoplastic syndrome
  • p.Arg163Gln Single submitter
  • p.Arg290= Single submitter hereditary neoplastic syndrome
  • p.Arg80= Single submitter hereditary neoplastic syndrome
  • p.Arg81= Single submitter hereditary neoplastic syndrome
  • p.Asn189= Single submitter hereditary neoplastic syndrome
  • p.Asn189Asp Single submitter hereditary neoplastic syndrome
  • p.Asn31= Single submitter hereditary neoplastic syndrome
  • p.Asn42= Single submitter hereditary neoplastic syndrome
  • p.Asn43= Single submitter hereditary neoplastic syndrome
  • p.Asn55His Single submitter hereditary neoplastic syndrome
  • p.Asn91= Single submitter hereditary neoplastic syndrome
  • p.Asp100= Single submitter hereditary neoplastic syndrome
  • p.Asp158= Single submitter hereditary neoplastic syndrome
  • p.Asp194= Single submitter hereditary neoplastic syndrome
  • p.Asp206= Single submitter hereditary neoplastic syndrome
  • p.Asp208= Single submitter hereditary neoplastic syndrome
  • p.Asp92= Single submitter hereditary neoplastic syndrome
  • p.Asp96= Single submitter
  • p.Asp98= Single submitter hereditary neoplastic syndrome
  • p.Cys110= Single submitter hereditary neoplastic syndrome
  • p.Cys116= Single submitter hereditary neoplastic syndrome
  • p.Cys135= Single submitter hereditary neoplastic syndrome
  • p.Cys46= Single submitter hereditary neoplastic syndrome
  • p.Cys48= Single submitter hereditary neoplastic syndrome
  • p.Cys59= Single submitter hereditary neoplastic syndrome
  • p.Gln109= Single submitter hereditary neoplastic syndrome
  • p.Gln175= Single submitter hereditary neoplastic syndrome
  • p.Gln201= Single submitter Lynch syndrome
  • p.Gln239= Single submitter hereditary neoplastic syndrome
  • p.Gln24= Single submitter hereditary neoplastic syndrome
  • p.Gln5= Single submitter hereditary neoplastic syndrome
  • p.Glu101= Single submitter hereditary neoplastic syndrome
  • p.Glu147= Single submitter hereditary neoplastic syndrome
  • p.Glu154= Single submitter hereditary neoplastic syndrome
  • p.Glu238= Single submitter hereditary neoplastic syndrome
  • p.Glu26= Single submitter hereditary neoplastic syndrome
  • p.Glu298= Single submitter hereditary neoplastic syndrome
  • p.Glu304= Single submitter hereditary neoplastic syndrome
  • p.Glu311= Single submitter hereditary neoplastic syndrome
  • p.Glu72= Single submitter hereditary neoplastic syndrome
  • p.Gly10= Single submitter hereditary neoplastic syndrome
  • p.Gly103= Single submitter hereditary neoplastic syndrome
  • p.Gly112= Single submitter hereditary neoplastic syndrome
  • p.Gly123= Single submitter hereditary neoplastic syndrome
  • p.Gly222= Single submitter hereditary neoplastic syndrome
  • p.Gly222Asp Single submitter hereditary neoplastic syndrome
  • p.Gly237= Single submitter hereditary neoplastic syndrome
  • p.Gly245= Single submitter hereditary neoplastic syndrome
  • p.Gly267= Single submitter hereditary neoplastic syndrome
  • p.Gly282= Single submitter hereditary neoplastic syndrome
  • p.Gly306= Single submitter hereditary neoplastic syndrome
  • p.Gly75= Single submitter hereditary neoplastic syndrome
  • p.Gly79= Single submitter hereditary neoplastic syndrome
  • p.Gly86= Single submitter hereditary neoplastic syndrome
  • p.Gly93= Single submitter hereditary neoplastic syndrome
  • p.His150= Single submitter hereditary neoplastic syndrome
  • p.Ile181= Single submitter hereditary neoplastic syndrome
  • p.Ile191= Single submitter hereditary neoplastic syndrome
  • p.Ile283= Single submitter hereditary neoplastic syndrome
  • p.Leu104= Single submitter hereditary neoplastic syndrome
  • p.Leu12= Single submitter hereditary neoplastic syndrome
  • p.Leu166= Single submitter hereditary neoplastic syndrome
  • p.Leu195= Single submitter hereditary neoplastic syndrome
  • p.Leu225= Single submitter hereditary neoplastic syndrome
  • p.Leu233= Single submitter hereditary neoplastic syndrome
  • p.Leu240= Single submitter hereditary neoplastic syndrome
  • p.Leu264= Single submitter hereditary neoplastic syndrome
  • p.Leu312= Single submitter hereditary neoplastic syndrome
  • p.Leu34= Single submitter hereditary neoplastic syndrome
  • p.Leu67= Single submitter hereditary neoplastic syndrome
  • p.Leu7= Single submitter hereditary neoplastic syndrome
  • p.Leu78= Single submitter hereditary neoplastic syndrome
  • p.Leu88Ile Single submitter hereditary neoplastic syndrome
  • p.Leu94= Single submitter hereditary neoplastic syndrome
  • p.Lys106= Single submitter hereditary neoplastic syndrome
  • p.Lys108= Single submitter hereditary neoplastic syndrome
  • p.Lys168= Single submitter hereditary neoplastic syndrome
  • p.Lys179= Single submitter hereditary neoplastic syndrome
  • p.Lys202= Single submitter hereditary neoplastic syndrome
  • p.Lys291= Single submitter hereditary neoplastic syndrome
  • p.Lys296= Single submitter
  • p.Lys299= Single submitter hereditary neoplastic syndrome
  • p.Lys61= Single submitter hereditary neoplastic syndrome
  • p.Lys70= Single submitter hereditary neoplastic syndrome
  • p.Met308Ile Single submitter hereditary neoplastic syndrome
  • p.Phe20= Single submitter hereditary neoplastic syndrome
  • p.Phe9= Single submitter hereditary neoplastic syndrome
  • p.Pro156= Single submitter hereditary neoplastic syndrome
  • p.Pro244= Single submitter hereditary neoplastic syndrome
  • p.Pro257= Single submitter hereditary neoplastic syndrome
  • p.Pro3= Single submitter hereditary neoplastic syndrome
  • p.Pro4= Single submitter hereditary neoplastic syndrome
  • p.Ser159Gly Single submitter hereditary neoplastic syndrome
  • p.Ser161= Single submitter hereditary neoplastic syndrome
  • p.Ser183= Single submitter hereditary neoplastic syndrome
  • p.Ser183Asn Single submitter hereditary neoplastic syndrome
  • p.Ser199= Single submitter hereditary neoplastic syndrome
  • p.Ser224= Single submitter hereditary neoplastic syndrome
  • p.Ser228= Single submitter hereditary neoplastic syndrome
  • p.Ser260= Single submitter hereditary neoplastic syndrome
  • p.Ser289= Single submitter hereditary neoplastic syndrome
  • p.Ser60= Single submitter hereditary neoplastic syndrome
  • p.Ser76= Single submitter hereditary neoplastic syndrome
  • p.Ter315= Single submitter hereditary neoplastic syndrome
  • p.Thr113= Single submitter hereditary neoplastic syndrome
  • p.Thr131= Single submitter hereditary neoplastic syndrome
  • p.Thr131Ser Single submitter hereditary neoplastic syndrome
  • p.Thr134= Single submitter hereditary neoplastic syndrome
  • p.Thr17= Single submitter hereditary neoplastic syndrome
  • p.Thr203= Single submitter hereditary neoplastic syndrome
  • p.Thr234= Single submitter hereditary neoplastic syndrome
  • p.Thr247= Single submitter hereditary neoplastic syndrome
  • p.Thr56= Single submitter hereditary neoplastic syndrome
  • p.Thr56Ser Single submitter hereditary neoplastic syndrome
  • p.Tyr157= Single submitter hereditary neoplastic syndrome
  • p.Tyr214= Single submitter hereditary neoplastic syndrome
  • p.Tyr215= Single submitter hereditary neoplastic syndrome
  • p.Tyr251= Single submitter hereditary neoplastic syndrome
  • p.Val207= Single submitter hereditary neoplastic syndrome
  • p.Val235= Single submitter hereditary neoplastic syndrome
  • p.Val268Ile Single submitter hereditary neoplastic syndrome
  • p.Val271= Single submitter hereditary neoplastic syndrome
  • p.Val273= Single submitter hereditary neoplastic syndrome
  • p.Val274= Single submitter hereditary neoplastic syndrome
  • p.Val276= Single submitter hereditary neoplastic syndrome
  • p.Val28= Single submitter hereditary neoplastic syndrome
  • p.Val285= Single submitter hereditary neoplastic syndrome
  • p.Val287= Single submitter hereditary neoplastic syndrome
  • p.Val28Ile Single submitter hereditary neoplastic syndrome
  • p.Val36= Single submitter hereditary neoplastic syndrome
  • p.Val40= Single submitter hereditary neoplastic syndrome
  • p.Val40Met Single submitter hereditary neoplastic syndrome
  • p.Val51Ile Single submitter hereditary neoplastic syndrome
  • p.Val57= Single submitter hereditary neoplastic syndrome
  • p.Val6= Single submitter hereditary neoplastic syndrome
  • p.Val68= Single submitter hereditary neoplastic syndrome
  • p.Val6Ile Single submitter
  • c.556-167A>T No assertion criteria hereditary neoplastic syndrome
  • c.556-20T>C No assertion criteria EPCAM-related disorder
  • c.76+148C>T No assertion criteria hereditary neoplastic syndrome
  • c.76+501C>T No assertion criteria hereditary neoplastic syndrome
  • c.76+611C>T No assertion criteria hereditary neoplastic syndrome
  • c.859-6A>C No assertion criteria Lynch syndrome
  • c.903+573T>C No assertion criteria hereditary neoplastic syndrome
  • c.*128A>G No assertion criteria EPCAM-related disorder
  • p.His309= No assertion criteria hereditary neoplastic syndrome

Uncertain significance 539

Showing the top 300 by review status; the full set is in the sitemap.