Sugi Variant

Sugi Variant/VLDLR

VLDLR — 785 ClinVar variants

All ClinVar germline VLDLR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →

32 Pathogenic · 1 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 36 Conflicting · 43 Benign · 18 Benign/Likely benign · 413 Likely benign · 214 Uncertain significance

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

⚑ Evidence disagreements 185

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 128

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

Predictors split 47

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

All VLDLR variants

Pathogenic 32

  • p.Arg279Ter Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Arg301Ter Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Trp529Ter Multiple submitters
  • c.821-1G>A Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Ala189fs Single submitter
  • p.Arg257Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Arg276Ter Single submitter
  • p.Arg747Ter Single submitter
  • p.Asp661fs Single submitter
  • p.Cys127fs Single submitter
  • p.Cys40Ter Single submitter
  • p.Cys706Phe Single submitter Cerebellar hypoplasia
  • p.Cys97Ter Single submitter
  • p.Gln724Ter Single submitter
  • p.Glu760Ter Single submitter
  • p.Lys414Ter Single submitter
  • p.Lys418fs Single submitter
  • p.Phe569fs Single submitter
  • p.Thr47fs Single submitter
  • p.Thr757fs Single submitter
  • p.Trp347_Asp349delinsTer Single submitter
  • p.Trp572fs Single submitter
  • p.Trp822Ter Single submitter congenital nervous system disorder
  • p.Tyr378Ter Single submitter
  • p.Tyr740Ter Single submitter
  • p.Tyr758Ter Single submitter
  • p.Arg448Ter No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Glu654Gly No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Ile780fs No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Trp50Ter No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Trp575Ter No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Tyr417fs No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Pathogenic/Likely pathogenic 1

  • c.83-1G>A Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Likely pathogenic 28

  • c.2252-2A>C Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.449-2A>T Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.1066+1G>A Single submitter
  • c.1186+1G>A Single submitter
  • c.1186+1G>T Single submitter
  • c.1822+1G>A Single submitter VLDLR-related disorder
  • c.1962+1G>A Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium
  • c.1962+2T>C Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.203-1del Single submitter
  • c.2252-1G>A Single submitter
  • c.2252-2A>G Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.2417-1G>A Single submitter
  • c.2417-1G>T Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.2417-2del Single submitter
  • c.325+1del Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.448+1G>C Single submitter
  • c.820_820+1delinsTC Single submitter
  • c.820+1G>A Single submitter Inborn genetic diseases
  • c.821-2A>G Single submitter
  • p.Arg556Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Arg88fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Cys400Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Cys715Tyr Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Gln126Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Gln481Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Glu146fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Leu720fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Met1Thr Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Conflicting classifications of pathogenicity 36

  • c.1066+14T>C Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.203-4G>A Single submitter
  • c.203-9C>T Single submitter
  • c.2104+5C>T Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.2416+13C>T Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.325+1G>A Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.449-14C>G Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.-42GGC[9] Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Ala597= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Ala597Val Single submitter ⚠
  • p.Arg276= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Arg301Gln Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Arg448Gln Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Arg44His Single submitter ⚠
  • p.Arg634His Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Asn511Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn603= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Asp213= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Asp396= Single submitter
  • p.Cys264= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Gly194= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Gly415= Single submitter
  • p.Gly438Asp Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Gly585= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Ile244Met Single submitter Inborn genetic diseases ⚠
  • p.Ile357Val Single submitter Inborn genetic diseases ⚠
  • p.Leu594= Single submitter
  • p.Lys548Arg Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Pro105= Single submitter
  • p.Pro35Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser328Gly Single submitter ⚠
  • p.Thr393= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Thr757Ile Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Trp347Cys Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 ⚠
  • p.Val657= Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Val791Ile Single submitter ⚠

Benign 43

Benign/Likely benign 18

  • c.1187-3C>T Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.1313-15A>C Multiple submitters
  • c.1485-12A>G Multiple submitters
  • c.943+10del Multiple submitters
  • c.943+19T>C Multiple submitters
  • c.944-5T>C Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.-113C>G Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • c.*551T>C Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Asn358= Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Asn81Ser Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Cys246= Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Cys318= Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Gln689= Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Leu388= Multiple submitters
  • p.Pro156= Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Ser155Thr Multiple submitters
  • p.Thr764Met Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • p.Val59Ile Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Likely benign 413

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

Uncertain significance 214