Sugi Variant

Sugi Variant/LPIN1

LPIN1 — 778 ClinVar variants

All ClinVar germline LPIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →

29 Pathogenic · 6 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 33 Conflicting · 77 Benign · 10 Benign/Likely benign · 282 Likely benign · 324 Uncertain significance

Full LPIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 249

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 1

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

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 204

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 204

Predictors split 33

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

All LPIN1 variants

Pathogenic 29

Pathogenic/Likely pathogenic 6

  • c.1807-1G>A Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • c.1807-2A>G Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • c.2621+1G>A Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • p.Arg426Ter Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • p.Gln344fs Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • p.Gly693fs Multiple submitters myoglobinuria, acute recurrent, autosomal recessive

Likely pathogenic 17

  • c.1887-1G>C Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • c.138+1G>A Single submitter LPIN1-related disorder
  • c.1532_1535del Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.1887-2A>C Single submitter
  • c.193-2A>G Single submitter
  • c.193-2A>T Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.2401_2402+22del Single submitter
  • c.81+36077del Single submitter LPIN1-related disorder
  • p.Arg158fs Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Asp840Asn Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Gln209fs Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Gln96= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Glu235fs Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Lys319Asn Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Lys734fs Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Ser275Ter Single submitter
  • p.Val748fs Single submitter myoglobinuria, acute recurrent, autosomal recessive

Conflicting classifications of pathogenicity 33

  • c.1264+5C>T Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.1265-7G>A Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.1886+7T>C Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.2163-10C>T Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.2403-8T>G Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • c.597-4C>T Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Ala649Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala8= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Arg641His Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Arg721= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Arg761Cys Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Arg761His Single submitter Acute rhabdomyolysis ⚠
  • p.Asn681= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Asp431= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Gln409Glu Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Glu805Gly Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Ile741= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Leu103= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Leu361= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Pro146Leu Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Pro24= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Pro557His Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Pro887= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Ser143= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Ser322= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Ser348= Single submitter
  • p.Ser46= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Thr145Met Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Thr285Lys Single submitter myoglobinuria, acute recurrent, autosomal recessive ⚠
  • p.Thr781= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Tyr3= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Val293= Single submitter myoglobinuria, acute recurrent, autosomal recessive
  • p.Val658Ile Single submitter Inborn genetic diseases ⚠

Benign 77

Benign/Likely benign 10

  • c.1358+12G>A Multiple submitters
  • c.192+19G>C Multiple submitters
  • c.193-43G>T Multiple submitters
  • c.2162+39T>C Multiple submitters
  • c.597-18T>A Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • c.597-8del Multiple submitters
  • p.Gln865= Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • p.Ile577Val Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • p.Leu438= Multiple submitters myoglobinuria, acute recurrent, autosomal recessive
  • p.Thr414= Multiple submitters myoglobinuria, acute recurrent, autosomal recessive

Likely benign 282

Uncertain significance 324

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