Sugi Variant

Sugi Variant/NIPBL

NIPBL — 2434 ClinVar variants

All ClinVar germline NIPBL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 369 flagged for review →

397 Pathogenic · 25 Pathogenic/Likely pathogenic · 180 Likely pathogenic · 168 Conflicting · 95 Benign · 49 Benign/Likely benign · 566 Likely benign · 954 Uncertain significance

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

⚑ Evidence disagreements 369

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 6

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

Predictors agree, ClinVar conflicts 35

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

Predictors lean, ClinVar uncertain 302

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 302

Predictors split 26

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

All NIPBL variants

Pathogenic 397

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

Pathogenic/Likely pathogenic 25

  • c.3304+1G>A Multiple submitters Cornelia de Lange syndrome 1
  • c.3855+5G>A Multiple submitters Cornelia de Lange syndrome 1
  • c.5709+1G>A Multiple submitters Cornelia de Lange syndrome 1
  • c.5862+1G>A Multiple submitters Cornelia de Lange syndrome 1
  • c.65-5A>G Multiple submitters Cornelia de Lange syndrome 1
  • c.7264-6T>G Multiple submitters NIPBL-related disorder
  • c.7410+4A>G Multiple submitters Cornelia de Lange syndrome 1
  • c.868+13C>G Multiple submitters Cornelia de Lange syndrome 1
  • p.Ala2338Pro Multiple submitters Cornelia de Lange syndrome 1
  • p.Ala2390Thr Multiple submitters NIPBL-related disorder
  • p.Arg2298Gly Multiple submitters Cornelia de Lange syndrome 1
  • p.Arg2298His Multiple submitters NIPBL-related disorder
  • p.Arg2582Ter Multiple submitters Cornelia de Lange syndrome 1
  • p.Asn1897del Multiple submitters Cornelia de Lange syndrome 1
  • p.Gln554Ter Multiple submitters Cornelia de Lange syndrome 1
  • p.Gly15Arg Multiple submitters Cornelia de Lange syndrome 1
  • p.Leu2546Pro Multiple submitters Cornelia de Lange syndrome 1
  • p.Lys2767fs Multiple submitters Cornelia de Lange syndrome 1
  • p.Lys603fs Multiple submitters Cornelia de Lange syndrome 1
  • p.Met1Lys Multiple submitters Cornelia de Lange syndrome 1
  • p.Met2207Thr Multiple submitters Cornelia de Lange syndrome 1
  • p.Tyr2216His Multiple submitters Cornelia de Lange syndrome 1
  • p.Val2233Met Multiple submitters NIPBL-related disorder
  • c.5808+5G>A No assertion criteria Cornelia de Lange syndrome 1
  • c.-467C>T No assertion criteria Cornelia de Lange syndrome 1

Likely pathogenic 180

Conflicting classifications of pathogenicity 168

Benign 95

Benign/Likely benign 49

  • c.1495+8_1495+10del Multiple submitters Cornelia de Lange syndrome 1
  • c.3502+17A>C Multiple submitters Cornelia de Lange syndrome 1
  • c.3503-7G>A Multiple submitters Cornelia de Lange syndrome 1
  • c.3574+20A>C Multiple submitters Cornelia de Lange syndrome 1
  • c.3575-17A>G Multiple submitters Cornelia de Lange syndrome 1
  • c.4320+14A>G Multiple submitters Cornelia de Lange syndrome 1
  • c.4422-12del Multiple submitters Cornelia de Lange syndrome 1
  • c.4561-9T>A Multiple submitters Cornelia de Lange syndrome 1
  • c.5010+9C>A Multiple submitters
  • c.5011-13A>G Multiple submitters Cornelia de Lange syndrome 1
  • c.5808+20G>C Multiple submitters Cornelia de Lange syndrome 1
  • c.5863-19_5863-2del Multiple submitters Cornelia de Lange syndrome 1
  • c.6109-3T>C Multiple submitters Inborn genetic diseases
  • c.6590-15dup Multiple submitters Cornelia de Lange syndrome 1
  • c.6955-9del Multiple submitters Cornelia de Lange syndrome 1
  • c.869-16C>T Multiple submitters Cornelia de Lange syndrome 1
  • c.-307C>T Multiple submitters Cornelia de Lange syndrome 1
  • c.-312T>A Multiple submitters Cornelia de Lange syndrome 1
  • p.Ala179Thr Multiple submitters Inborn genetic diseases
  • p.Ala268= Multiple submitters Inborn genetic diseases
  • p.Ala98= Multiple submitters Inborn genetic diseases
  • p.Arg321= Multiple submitters Cornelia de Lange syndrome 1
  • p.Arg629Gln Multiple submitters Inborn genetic diseases
  • p.Arg743His Multiple submitters Inborn genetic diseases
  • p.Asn1287= Multiple submitters Cornelia de Lange syndrome 1
  • p.Asn384Ser Multiple submitters Cornelia de Lange syndrome 1
  • p.Asn60Ser Multiple submitters Cornelia de Lange syndrome 1
  • p.Asn924= Multiple submitters Cornelia de Lange syndrome 1
  • p.Asp817= Multiple submitters Cornelia de Lange syndrome 1
  • p.Glu655Asp Multiple submitters Inborn genetic diseases
  • p.Gly909= Multiple submitters Inborn genetic diseases
  • p.Ile459Arg Multiple submitters Cornelia de Lange syndrome 1
  • p.Leu1299= Multiple submitters Cornelia de Lange syndrome 1
  • p.Leu1430= Multiple submitters Cornelia de Lange syndrome 1
  • p.Leu1591= Multiple submitters Cornelia de Lange syndrome 1
  • p.Leu2019= Multiple submitters Inborn genetic diseases
  • p.Lys1653= Multiple submitters Inborn genetic diseases
  • p.Lys662Arg Multiple submitters Inborn genetic diseases
  • p.Lys783= Multiple submitters Cornelia de Lange syndrome 1
  • p.Phe2208= Multiple submitters Cornelia de Lange syndrome 1
  • p.Ser1415= Multiple submitters Inborn genetic diseases
  • p.Ser161= Multiple submitters Cornelia de Lange syndrome 1
  • p.Ser352= Multiple submitters Inborn genetic diseases
  • p.Thr2146= Multiple submitters Cornelia de Lange syndrome 1
  • p.Thr2695= Multiple submitters Inborn genetic diseases
  • p.Thr2779= Multiple submitters History of neurodevelopmental disorder
  • p.Tyr178= Multiple submitters Inborn genetic diseases
  • p.Val2610= Multiple submitters Inborn genetic diseases
  • p.Val66= Multiple submitters Inborn genetic diseases

Likely benign 566

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

Uncertain significance 954

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