Sugi Variant

Sugi Variant/CDK5RAP2

CDK5RAP2 — 1033 ClinVar variants

All ClinVar germline CDK5RAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 452 flagged for review →

47 Pathogenic · 2 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 62 Conflicting · 81 Benign · 21 Benign/Likely benign · 339 Likely benign · 449 Uncertain significance

Full CDK5RAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 452

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 27

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

Predictors lean, ClinVar uncertain 286

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 286

Predictors split 139

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

All CDK5RAP2 variants

Pathogenic 47

  • c.4005-1G>A Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Arg1558Ter Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Arg427Ter Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Gln1474Ter Multiple submitters
  • p.Gln1743Ter Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Gln175fs Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Glu1516Ter Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Glu186fs Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Lys189fs Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Tyr1659Ter Multiple submitters
  • p.Val1033fs Multiple submitters Inborn genetic diseases
  • c.4604+1G>C Single submitter microcephaly 3, primary, autosomal recessive
  • p.Arg150Ter Single submitter CDK5RAP2-related disorder
  • p.Arg260Ter Single submitter
  • p.Asn1388fs Single submitter
  • p.Asn722fs Single submitter
  • p.Asp820fs Single submitter
  • p.Gln1301Ter Single submitter
  • p.Gln1520Ter Single submitter
  • p.Gln965Ter Single submitter
  • p.Gln972Ter Single submitter
  • p.Glu119Ter Single submitter microcephaly 3, primary, autosomal recessive
  • p.Glu243Ter Single submitter
  • p.Glu340fs Single submitter microcephaly 3, primary, autosomal recessive
  • p.His1182fs Single submitter microcephaly 3, primary, autosomal recessive
  • p.Ile1523fs Single submitter
  • p.Ile223fs Single submitter
  • p.Ile67fs Single submitter microcephaly 3, primary, autosomal recessive
  • p.Leu1284Ter Single submitter microcephaly 3, primary, autosomal recessive
  • p.Leu1557fs Single submitter microcephaly 3, primary, autosomal recessive
  • p.Leu557fs Single submitter
  • p.Ser1360fs Single submitter
  • p.Ser622Ter Single submitter microcephaly 3, primary, autosomal recessive
  • p.Thr308_Glu309insTer Single submitter
  • p.Tyr369Ter Single submitter
  • p.Val1013fs Single submitter
  • p.Val47Xaa Single submitter
  • c.4005-15A>G No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Asn459fs No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Asp209fs No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Gln1154Ter No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Gln1474fs No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Glu234Ter No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Glu73fs No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Leu84Phe No assertion criteria microcephaly
  • p.Ser1710fs No assertion criteria microcephaly 3, primary, autosomal recessive
  • p.Tyr82Ter No assertion criteria microcephaly 3, primary, autosomal recessive

Pathogenic/Likely pathogenic 2

  • p.Arg1403Ter Multiple submitters microcephaly 3, primary, autosomal recessive
  • p.Arg1481Ter Multiple submitters microcephaly 3, primary, autosomal recessive

Likely pathogenic 32

Conflicting classifications of pathogenicity 62

  • c.128-10C>G Single submitter microcephaly 3, primary, autosomal recessive
  • c.1627-18G>T Single submitter microcephaly 3, primary, autosomal recessive
  • c.1627-9C>A Single submitter microcephaly 3, primary, autosomal recessive
  • c.1969-6T>C Single submitter microcephaly 3, primary, autosomal recessive
  • c.2203-2A>T Single submitter
  • c.2376-11T>C Single submitter microcephaly 3, primary, autosomal recessive
  • c.2793+13A>G Single submitter microcephaly 3, primary, autosomal recessive
  • c.3026-4G>A Single submitter microcephaly 3, primary, autosomal recessive
  • c.5452-8C>T Single submitter CDK5RAP2-related disorder
  • p.Ala1499= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Ala1577Val Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Ala173= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Ala326= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Arg150Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1527Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg260Gln Single submitter intellectual disability ⚠
  • p.Arg427Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg946Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn36= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Asn497Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys19Arg Single submitter ⚠
  • p.Gln1392Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln406= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Glu1482Val Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Glu1816= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Gly138Ser Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Gly365= Single submitter
  • p.His1654= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Ile1467Val Single submitter ⚠
  • p.Ile1753Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1186= Single submitter
  • p.Leu1255Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1347Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1542Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1718Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1747= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Leu1839= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Leu857= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Leu882Val Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Lys828= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Lys828Glu Single submitter ⚠
  • p.Pro1012Ala Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Pro1188= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Pro1707= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Pro1883= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Pro250Leu Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Pro35Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser1389Cys Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Ser1446Arg Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Ser1613Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser631Cys Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Thr1001= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Thr1080= Single submitter microcephaly 3, primary, autosomal recessive
  • p.Thr1121Ala Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Thr1692Met Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Thr308Ile Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Thr360Ile Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Thr878Met Single submitter Inborn genetic diseases ⚠
  • p.Thr962Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr1734Cys Single submitter microcephaly 3, primary, autosomal recessive ⚠
  • p.Tyr668Cys Single submitter Inborn genetic diseases ⚠
  • p.Val12Leu Single submitter microcephaly 3, primary, autosomal recessive ⚠

Benign 81

Benign/Likely benign 21

Likely benign 339

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

Uncertain significance 449

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