Sugi Variant

Sugi Variant/CEP152

CEP152 — 1223 ClinVar variants

All ClinVar germline CEP152 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 363 flagged for review →

84 Pathogenic · 17 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 61 Conflicting · 59 Benign · 17 Benign/Likely benign · 578 Likely benign · 369 Uncertain significance

Full CEP152 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 363

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 23

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

Predictors lean, ClinVar uncertain 241

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 241

Predictors split 99

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

All CEP152 variants

Pathogenic 84

Pathogenic/Likely pathogenic 17

  • c.540+1G>A Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Arg115Ter Multiple submitters Seckel syndrome 5
  • p.Arg1309Ter Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Arg267Ter Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Arg987Ter Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Gln1058fs Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Gln157fs Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Gln265Pro Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Glu301fs Multiple submitters Seckel syndrome 5
  • p.Leu1071fs Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Ser538Ter Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Thr1006fs Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Trp105Ter Multiple submitters Seckel syndrome
  • p.Trp176Ter Multiple submitters microcephaly 9, primary, autosomal recessive
  • p.Trp773Ter Multiple submitters Seckel syndrome 5
  • p.Tyr678Ter Multiple submitters CEP152-related disorder
  • p.Val1084fs Multiple submitters CEP152-related disorder

Likely pathogenic 38

Conflicting classifications of pathogenicity 61

  • c.1578-6C>G Single submitter microcephaly 9, primary, autosomal recessive
  • c.2018+10A>G Single submitter microcephaly 9, primary, autosomal recessive
  • c.2018+9T>C Single submitter microcephaly 9, primary, autosomal recessive
  • c.2695-1G>T Single submitter Inborn genetic diseases
  • c.3466+7G>C Single submitter
  • c.3990-13G>T Single submitter microcephaly 9, primary, autosomal recessive
  • c.832+12G>A Single submitter microcephaly 9, primary, autosomal recessive
  • c.-77G>C Single submitter microcephaly 9, primary, autosomal recessive
  • c.*255T>C Single submitter microcephaly 9, primary, autosomal recessive
  • p.Ala1126= Single submitter Seckel syndrome 5
  • p.Ala1143= Single submitter Seckel syndrome 5
  • p.Ala310= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Arg1024Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg115Gln Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Arg1586Pro Single submitter Seckel syndrome 5 ⚠
  • p.Arg264Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg288Gln Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Arg397His Single submitter Inborn genetic diseases ⚠
  • p.Arg673= Single submitter Inborn genetic diseases
  • p.Asn1108= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Asn1624= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Asn942= Single submitter Seckel syndrome 5
  • p.Asp1280Gly Single submitter ⚠
  • p.Asp20= Single submitter
  • p.Asp62= Single submitter
  • p.Cys395= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Gln1132Glu Single submitter Seckel syndrome 5 ⚠
  • p.Gln1358Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln1363Ter Single submitter Seckel syndrome 5
  • p.Gln1444Ter Single submitter Seckel syndrome 5
  • p.Gln606His Single submitter Inborn genetic diseases ⚠
  • p.Gln965= Single submitter
  • p.Gln974Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu754= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Glu926Val Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Glu967= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Glu976= Single submitter Seckel syndrome 5
  • p.His1440= Single submitter Seckel syndrome 5
  • p.His681Tyr Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Ile1392Thr Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Ile256Thr Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Ile394Val Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Leu1105Val Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Leu146= Single submitter Seckel syndrome 5
  • p.Leu1475= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Leu336= Single submitter
  • p.Leu622= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Lys309Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys328Gln Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Phe1671fs Single submitter
  • p.Pro1145Thr Single submitter Seckel syndrome 5 ⚠
  • p.Pro1705= Single submitter Seckel syndrome 5
  • p.Ser1582Pro Single submitter Seckel syndrome 5 ⚠
  • p.Ser215Asn Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Ser2Thr Single submitter microcephaly 9, primary, autosomal recessive ⚠
  • p.Ser894Phe Single submitter Seckel syndrome 5 ⚠
  • p.Thr1580Ala Single submitter Seckel syndrome 5 ⚠
  • p.Thr332= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Trp960Arg Single submitter Seckel syndrome 5 ⚠
  • p.Val443= Single submitter microcephaly 9, primary, autosomal recessive
  • p.Val550= Single submitter microcephaly 9, primary, autosomal recessive

Benign 59

Benign/Likely benign 17

Likely benign 578

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

Uncertain significance 369

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