Sugi Variant

Sugi Variant/CEP57

CEP57 — 877 ClinVar variants

All ClinVar germline CEP57 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 550 flagged for review →

14 Pathogenic · 5 Likely pathogenic · 12 Conflicting · 6 Benign · 3 Benign/Likely benign · 254 Likely benign · 583 Uncertain significance

Full CEP57 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 550

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 8

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

Predictors lean, ClinVar uncertain 356

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 356

Predictors split 186

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 186

All CEP57 variants

Pathogenic 14

  • p.Arg339Ter Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu309fs Multiple submitters mosaic variegated aneuploidy syndrome 2
  • c.382+2T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg151Ter Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg175Ter Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg325Ter Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg81Ter Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Gln373Ter Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Lys260Ter Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Ser7fs Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Thr201fs Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Tyr104_Lys105delinsTer Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg242fs No assertion criteria mosaic variegated aneuploidy syndrome
  • p.Glu174fs No assertion criteria mosaic variegated aneuploidy syndrome 2

Likely pathogenic 5

  • c.46-2A>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.622-2A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.699+1G>T Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Lys463fs Single submitter
  • p.Lys467_Leu468insTer Single submitter mosaic variegated aneuploidy syndrome 2

Conflicting classifications of pathogenicity 12

Benign 6

  • c.807+3G>A Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Arg448Gly Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Ile327Val Multiple submitters mosaic variegated aneuploidy syndrome 2
  • c.1272+7_1272+8del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.382+20T>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.622-9dup Single submitter mosaic variegated aneuploidy syndrome 2

Benign/Likely benign 3

  • c.807+8G>A Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln111His Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu346= Multiple submitters mosaic variegated aneuploidy syndrome 2

Likely benign 254

  • p.Ala302= Multiple submitters Inborn genetic diseases
  • p.Ala305= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Ala412= Multiple submitters Inborn genetic diseases
  • p.Ala8= Multiple submitters Inborn genetic diseases
  • p.Arg151= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Arg258= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Arg30= Multiple submitters Inborn genetic diseases
  • p.Arg51= Multiple submitters Inborn genetic diseases
  • p.Asn16= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Asn25= Multiple submitters Inborn genetic diseases
  • p.Asn306= Multiple submitters Inborn genetic diseases
  • p.Asn354= Multiple submitters Inborn genetic diseases
  • p.Asn449= Multiple submitters Inborn genetic diseases
  • p.Asp49= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln146= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln185= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln211= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln222= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln279= Multiple submitters Inborn genetic diseases
  • p.Gln368= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Gln479= Multiple submitters Inborn genetic diseases
  • p.Gln485= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Glu172= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Glu187= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Glu219= Multiple submitters Inborn genetic diseases
  • p.Glu223= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Glu358= Multiple submitters Inborn genetic diseases
  • p.Glu402= Multiple submitters Inborn genetic diseases
  • p.Glu84= Multiple submitters Inborn genetic diseases
  • p.Gly11= Multiple submitters Inborn genetic diseases
  • p.His218= Multiple submitters Inborn genetic diseases
  • p.His378= Multiple submitters Inborn genetic diseases
  • p.Ile244= Multiple submitters Inborn genetic diseases
  • p.Leu142= Multiple submitters Inborn genetic diseases
  • p.Leu143= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu171= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu189= Multiple submitters Inborn genetic diseases
  • p.Leu243= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu360= Multiple submitters Inborn genetic diseases
  • p.Leu367= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu393= Multiple submitters Inborn genetic diseases
  • p.Leu401= Multiple submitters Inborn genetic diseases
  • p.Leu481= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Leu50= Multiple submitters Inborn genetic diseases
  • p.Leu83= Multiple submitters Inborn genetic diseases
  • p.Lys139= Multiple submitters Inborn genetic diseases
  • p.Lys167= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Lys411= Multiple submitters Inborn genetic diseases
  • p.Pro251= Multiple submitters Inborn genetic diseases
  • p.Pro44= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Ser17= Multiple submitters Inborn genetic diseases
  • p.Ser170= Multiple submitters Inborn genetic diseases
  • p.Ser184= Multiple submitters Inborn genetic diseases
  • p.Ser22Leu Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Ser337= Multiple submitters Inborn genetic diseases
  • p.Ser388= Multiple submitters Inborn genetic diseases
  • p.Ser41= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Ser48= Multiple submitters Inborn genetic diseases
  • p.Ser5= Multiple submitters Inborn genetic diseases
  • p.Ser7= Multiple submitters Inborn genetic diseases
  • p.Thr101= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Thr162= Multiple submitters Inborn genetic diseases
  • p.Thr180= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • p.Thr200= Multiple submitters Inborn genetic diseases
  • p.Thr390= Multiple submitters Inborn genetic diseases
  • p.Thr459= Multiple submitters Inborn genetic diseases
  • p.Thr58= Multiple submitters Inborn genetic diseases
  • p.Tyr36= Multiple submitters Inborn genetic diseases
  • p.Val37= Multiple submitters Inborn genetic diseases
  • p.Val6= Multiple submitters mosaic variegated aneuploidy syndrome 2
  • c.1127+11_1127+14del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-10T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-16_1128-14del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-17T>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-18C>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-18del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-19A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-4A>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1128-4A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1272+10T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1272+12_1272+13del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1272+12T>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1272+13T>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1272+19A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1272+9G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.1273-14G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.202+15C>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.202+16G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.202+17A>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.203-15G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.382+10_382+12del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.382+14G>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.382+19T>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.382+9del Single submitter mosaic variegated aneuploidy syndrome 2
  • c.383-10T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.383-11A>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.383-13G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.383-14T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.383-15A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.45+16C>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.45+17G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.45+17G>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.45+18C>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.46-10dup Single submitter mosaic variegated aneuploidy syndrome 2
  • c.46-10T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.46-11T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.46-3673T>C Single submitter
  • c.46-8T>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.46-9A>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.46-9A>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.504+19A>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.505-11T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.505-19A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.621+19T>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.621+7G>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.622-10T>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.622-12T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.699+7T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.700-19A>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.700-4C>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.807+16C>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.808-6A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.808-9T>C Single submitter mosaic variegated aneuploidy syndrome 2
  • c.885+13A>G Single submitter mosaic variegated aneuploidy syndrome 2
  • c.885+18C>T Single submitter mosaic variegated aneuploidy syndrome 2
  • c.885+19G>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.886-7C>A Single submitter mosaic variegated aneuploidy syndrome 2
  • c.886-7C>T Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Ala157= Single submitter Inborn genetic diseases
  • p.Ala19= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Ala2= Single submitter Inborn genetic diseases
  • p.Ala215= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Ala229= Single submitter Inborn genetic diseases
  • p.Ala232= Single submitter Inborn genetic diseases
  • p.Ala3= Single submitter Inborn genetic diseases
  • p.Ala382= Single submitter Inborn genetic diseases
  • p.Ala403= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Ala72= Single submitter Inborn genetic diseases
  • p.Ala9= Single submitter Inborn genetic diseases
  • p.Arg175= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg226= Single submitter Inborn genetic diseases
  • p.Arg23Lys Single submitter Inborn genetic diseases
  • p.Arg448= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Arg474= Single submitter Inborn genetic diseases
  • p.Arg475= Single submitter Inborn genetic diseases
  • p.Arg52= Single submitter Inborn genetic diseases
  • p.Arg87= Single submitter Inborn genetic diseases
  • p.Asn120= Single submitter Inborn genetic diseases
  • p.Asn152= Single submitter Inborn genetic diseases
  • p.Asn241= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Asp178= Single submitter Inborn genetic diseases
  • p.Asp247= Single submitter Inborn genetic diseases
  • p.Asp445= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Asp464= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Cys252= Single submitter Inborn genetic diseases
  • p.Cys252Tyr Single submitter Inborn genetic diseases
  • p.Cys399= Single submitter Inborn genetic diseases
  • p.Cys497= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Gln132= Single submitter Inborn genetic diseases
  • p.Gln176= Single submitter Inborn genetic diseases
  • p.Gln235= Single submitter Inborn genetic diseases
  • p.Gln379= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Gln414= Single submitter Inborn genetic diseases
  • p.Gln433= Single submitter Inborn genetic diseases
  • p.Glu116= Single submitter Inborn genetic diseases
  • p.Glu121= Single submitter Inborn genetic diseases
  • p.Glu239= Single submitter Inborn genetic diseases
  • p.Glu392= Single submitter Inborn genetic diseases
  • p.Glu398= Single submitter Inborn genetic diseases
  • p.Glu472= Single submitter Inborn genetic diseases
  • p.Glu91= Single submitter Inborn genetic diseases
  • p.Gly237= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Gly294= Single submitter Inborn genetic diseases
  • p.Gly340= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Gly355= Single submitter Inborn genetic diseases
  • p.Gly372= Single submitter Inborn genetic diseases
  • p.Gly458= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.His125= Single submitter Inborn genetic diseases
  • p.His181= Single submitter Inborn genetic diseases
  • p.His301= Single submitter Inborn genetic diseases
  • p.Ile244Thr Single submitter Inborn genetic diseases
  • p.Ile327= Single submitter Inborn genetic diseases
  • p.Leu147= Single submitter Inborn genetic diseases
  • p.Leu14Phe Single submitter Inborn genetic diseases
  • p.Leu217= Single submitter Inborn genetic diseases
  • p.Leu238= Single submitter Inborn genetic diseases
  • p.Leu309= Single submitter Inborn genetic diseases
  • p.Leu309Phe Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Leu311= Single submitter Inborn genetic diseases
  • p.Leu313= Single submitter
  • p.Leu321= Single submitter Inborn genetic diseases
  • p.Leu384= Single submitter Inborn genetic diseases
  • p.Leu397= Single submitter Inborn genetic diseases
  • p.Leu430= Single submitter Inborn genetic diseases
  • p.Leu437= Single submitter Inborn genetic diseases
  • p.Leu46= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Leu468= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Leu468Pro Single submitter Inborn genetic diseases
  • p.Leu491= Single submitter Inborn genetic diseases
  • p.Leu85= Single submitter Inborn genetic diseases
  • p.Leu97= Single submitter Inborn genetic diseases
  • p.Lys145= Single submitter Inborn genetic diseases
  • p.Lys155= Single submitter Inborn genetic diseases
  • p.Lys261= Single submitter Inborn genetic diseases
  • p.Lys396= Single submitter Inborn genetic diseases
  • p.Lys43= Single submitter Inborn genetic diseases
  • p.Lys432= Single submitter Inborn genetic diseases
  • p.Lys434= Single submitter Inborn genetic diseases
  • p.Lys435= Single submitter Inborn genetic diseases
  • p.Lys441= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Lys56= Single submitter Inborn genetic diseases
  • p.Phe18Leu Single submitter Inborn genetic diseases
  • p.Phe45= Single submitter Inborn genetic diseases
  • p.Phe465= Single submitter Inborn genetic diseases
  • p.Pro21= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Pro254= Single submitter Inborn genetic diseases
  • p.Pro266= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Pro35= Single submitter Inborn genetic diseases
  • p.Pro351Ser Single submitter Inborn genetic diseases
  • p.Pro389= Single submitter Inborn genetic diseases
  • p.Pro54= Single submitter Inborn genetic diseases
  • p.Ser10= Single submitter Inborn genetic diseases
  • p.Ser12= Single submitter Inborn genetic diseases
  • p.Ser22= Single submitter Inborn genetic diseases
  • p.Ser264= Single submitter Inborn genetic diseases
  • p.Ser296= Single submitter Inborn genetic diseases
  • p.Ser329Gly Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Ser33= Single submitter Inborn genetic diseases
  • p.Ser361= Single submitter Inborn genetic diseases
  • p.Ser375= Single submitter Inborn genetic diseases
  • p.Ser450= Single submitter Inborn genetic diseases
  • p.Ser451= Single submitter Inborn genetic diseases
  • p.Ser452= Single submitter Inborn genetic diseases
  • p.Ser486= Single submitter Inborn genetic diseases
  • p.Ser490= Single submitter Inborn genetic diseases
  • p.Ser493= Single submitter Inborn genetic diseases
  • p.Ser495= Single submitter Inborn genetic diseases
  • p.Ser93= Single submitter Inborn genetic diseases
  • p.Ser98= Single submitter Inborn genetic diseases
  • p.Ter501= Single submitter Inborn genetic diseases
  • p.Thr366= Single submitter Inborn genetic diseases
  • p.Thr443= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Thr460= Single submitter Inborn genetic diseases
  • p.Thr96= Single submitter
  • p.Tyr104= Single submitter Inborn genetic diseases
  • p.Tyr275= Single submitter Inborn genetic diseases
  • p.Tyr61= Single submitter Inborn genetic diseases
  • p.Val29= Single submitter Inborn genetic diseases
  • p.Val303= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Val336= Single submitter mosaic variegated aneuploidy syndrome 2
  • p.Val348= Single submitter Inborn genetic diseases
  • p.Val363= Single submitter Inborn genetic diseases
  • p.Val38= Single submitter Inborn genetic diseases
  • c.1273-9T>G No assertion criteria CEP57-related disorder

Uncertain significance 583

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