Sugi Variant

Sugi Variant/LPL

LPL — 849 ClinVar variants

All ClinVar germline LPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →

73 Pathogenic · 24 Pathogenic/Likely pathogenic · 62 Likely pathogenic · 35 Conflicting · 55 Benign · 12 Benign/Likely benign · 326 Likely benign · 262 Uncertain significance

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

⚑ Evidence disagreements 237

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 vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 132

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

Predictors split 86

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

All LPL variants

Pathogenic 73

Pathogenic/Likely pathogenic 24

  • c.1019-3C>A Multiple submitters familial lipoprotein lipase deficiency
  • c.1322+1G>C Multiple submitters Cardiovascular phenotype
  • c.89-1G>A Multiple submitters familial lipoprotein lipase deficiency
  • c.89-1G>C Multiple submitters familial lipoprotein lipase deficiency
  • p.Ala98Thr Multiple submitters hyperlipidemia, familial combined, LPL related ⚠
  • p.Arg270Cys Multiple submitters Cardiovascular phenotype
  • p.Arg270His Multiple submitters Cardiovascular phenotype
  • p.Asp183Asn Multiple submitters familial lipoprotein lipase deficiency
  • p.Asp277Asn Multiple submitters Cardiovascular phenotype
  • p.Gln133Ter Multiple submitters Cardiovascular phenotype
  • p.Gly181Arg Multiple submitters familial lipoprotein lipase deficiency
  • p.Gly181Ser Multiple submitters familial lipoprotein lipase deficiency
  • p.Gly215Glu Multiple submitters LPL-related disorder
  • p.Ile252Thr Multiple submitters familial lipoprotein lipase deficiency
  • p.Leu279Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys331Glu Multiple submitters familial lipoprotein lipase deficiency
  • p.Met328Ile Multiple submitters hyperlipidemia, familial combined, LPL related
  • p.Pro234Leu Multiple submitters Cardiovascular phenotype
  • p.Pro241Ser Multiple submitters familial lipoprotein lipase deficiency
  • p.Trp113Arg Multiple submitters familial lipoprotein lipase deficiency
  • p.Trp417Ter Multiple submitters familial lipoprotein lipase deficiency
  • p.Tyr100Ter Multiple submitters familial lipoprotein lipase deficiency
  • p.Tyr191Ter Multiple submitters familial lipoprotein lipase deficiency
  • p.Val230fs Multiple submitters hyperlipidemia, familial combined, LPL related

Likely pathogenic 62

  • c.1139+1G>A Multiple submitters Cardiovascular phenotype
  • c.1139+7A>G Multiple submitters hyperlipidemia, familial combined, LPL related
  • p.Arg197Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys243Ser Multiple submitters familial lipoprotein lipase deficiency
  • p.Gly186Glu Multiple submitters familial lipoprotein lipase deficiency ⚠
  • p.Gly237Asp Multiple submitters familial lipoprotein lipase deficiency
  • p.His268Tyr Multiple submitters familial lipoprotein lipase deficiency
  • p.His273Arg Multiple submitters familial lipoprotein lipase deficiency
  • p.Ser286Gly Multiple submitters familial lipoprotein lipase deficiency ⚠
  • p.Tyr289Ter Multiple submitters familial lipoprotein lipase deficiency
  • p.Val227Ala Multiple submitters familial lipoprotein lipase deficiency ⚠
  • p.Val96Leu Multiple submitters Cardiovascular phenotype ⚠
  • c.1019-1G>A Single submitter
  • c.1019-3C>G Single submitter familial lipoprotein lipase deficiency
  • c.1323-2A>G Single submitter
  • c.250-1G>C Single submitter familial lipoprotein lipase deficiency
  • c.250-2A>C Single submitter
  • c.250dup Single submitter hyperlipidemia, familial combined, LPL related
  • c.541+1G>A Single submitter
  • c.542-1G>A Single submitter familial lipoprotein lipase deficiency
  • c.88+1del Single submitter
  • p.Ala203Thr Single submitter familial lipoprotein lipase deficiency
  • p.Ala458fs Single submitter familial lipoprotein lipase deficiency
  • p.Arg102Thr Single submitter
  • p.Arg116Gln Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Arg270Gly Single submitter familial lipoprotein lipase deficiency
  • p.Arg333Cys Single submitter familial lipoprotein lipase deficiency
  • p.Asp105fs Single submitter familial lipoprotein lipase deficiency
  • p.Asp207Glu Single submitter familial lipoprotein lipase deficiency
  • p.Cys266fs Single submitter familial lipoprotein lipase deficiency
  • p.Cys266Tyr Single submitter familial lipoprotein lipase deficiency
  • p.Cys302Arg Single submitter hyperlipidemia, familial combined, LPL related
  • p.Cys310Arg Single submitter familial lipoprotein lipase deficiency
  • p.Cys310Tyr Single submitter hyperlipidemia, familial combined, LPL related
  • p.Gln224fs Single submitter familial lipoprotein lipase deficiency
  • p.Gln439Ter Single submitter
  • p.Glu190Gly Single submitter
  • p.Glu396_Val397insTer Single submitter hyperlipidemia, familial combined, LPL related
  • p.Gly436Arg Single submitter hyperlipidemia, familial combined, LPL related
  • p.Gly59Ter Single submitter familial lipoprotein lipase deficiency
  • p.His210Tyr Single submitter familial lipoprotein lipase deficiency
  • p.His466Pro Single submitter ⚠
  • p.Ile221Asn Single submitter
  • p.Ile221Phe Single submitter ⚠
  • p.Leu209Ter Single submitter
  • p.Leu313Pro Single submitter
  • p.Leu330Pro Single submitter Cardiovascular phenotype
  • p.Leu392Val Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Lys129fs Single submitter hyperlipidemia, familial combined, LPL related
  • p.Lys387fs Single submitter familial lipoprotein lipase deficiency
  • p.Met1Ile Single submitter
  • p.Phe41fs Single submitter familial lipoprotein lipase deficiency
  • p.Ser278Cys Single submitter familial lipoprotein lipase deficiency
  • p.Thr211Lys Single submitter familial lipoprotein lipase deficiency
  • p.Trp113fs Single submitter familial lipoprotein lipase deficiency
  • p.Trp141Cys Single submitter
  • p.Tyr121Ter Single submitter familial lipoprotein lipase deficiency
  • p.Tyr289His Single submitter familial lipoprotein lipase deficiency
  • p.Tyr315Ter Single submitter
  • p.Tyr414Ter Single submitter familial lipoprotein lipase deficiency
  • p.Val227Phe Single submitter
  • p.Cys310Ser No assertion criteria familial lipoprotein lipase deficiency

Conflicting classifications of pathogenicity 35

  • c.1427+15C>A Single submitter familial lipoprotein lipase deficiency
  • c.1428-6del Single submitter
  • p.Ala27= Single submitter familial lipoprotein lipase deficiency
  • p.Ala288Pro Single submitter hyperlipidemia, familial combined, LPL related ⚠
  • p.Ala288Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala460Val Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Ala97Val Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Arg116Pro Single submitter hyperlipidemia, familial combined, LPL related ⚠
  • p.Arg116Trp Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Arg137Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg197His Single submitter Cardiovascular phenotype ⚠
  • p.Arg333His Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Asn318Ser Single submitter Cardiovascular phenotype ⚠
  • p.Cys305Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gln133Glu Single submitter Cardiovascular phenotype ⚠
  • p.Gln262= Single submitter Cardiovascular phenotype
  • p.Gln262Ter Single submitter hypertriglyceridemia
  • p.Glu38Lys Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Glu396Val Single submitter Cardiovascular phenotype ⚠
  • p.Gly81Asp Single submitter Cardiovascular phenotype ⚠
  • p.His229= Single submitter Cardiovascular phenotype
  • p.His268Gln Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Ile167= Single submitter familial lipoprotein lipase deficiency
  • p.Ile221Thr Single submitter Cardiovascular phenotype ⚠
  • p.Lys406Ter Single submitter familial lipoprotein lipase deficiency
  • p.Ser115= Single submitter familial lipoprotein lipase deficiency
  • p.Ser216= Single submitter familial lipoprotein lipase deficiency
  • p.Ser63= Single submitter familial lipoprotein lipase deficiency
  • p.Thr332Ile Single submitter ⚠
  • p.Thr379Ile Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Val176= Single submitter Cardiovascular phenotype
  • p.Val227Gly Single submitter familial lipoprotein lipase deficiency ⚠
  • p.Val227Leu Single submitter hyperlipidemia, familial combined, LPL related ⚠
  • p.Val370Met Single submitter Cardiovascular phenotype ⚠
  • p.Val442Gly Single submitter familial lipoprotein lipase deficiency ⚠

Benign 55

Benign/Likely benign 12

Likely benign 326

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

Uncertain significance 262