DIS3 — 129 ClinVar variants
All ClinVar germline DIS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
2 Likely pathogenic · 1 Conflicting · 4 Benign · 6 Likely benign · 116 Uncertain significance
Full DIS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIS3 p.Ala103Val Uncertain significance Single submitter
- DIS3 p.Ala261Thr Uncertain significance Single submitter
- DIS3 p.Ala304Thr Uncertain significance Single submitter
- DIS3 p.Ala42Val Uncertain significance Single submitter
- DIS3 p.Ala686Val Uncertain significance Single submitter
- DIS3 p.Ala783Thr Uncertain significance Single submitter
- DIS3 p.Arg210His Uncertain significance Single submitter
- DIS3 p.Arg384Leu Uncertain significance Single submitter
- DIS3 p.Arg410Gly Uncertain significance Single submitter
- DIS3 p.Arg746Cys Uncertain significance Single submitter
- DIS3 p.Arg746Ser Uncertain significance Single submitter
- DIS3 p.Arg856Ile Uncertain significance Single submitter
- DIS3 p.Arg924Gln Uncertain significance Single submitter
- DIS3 p.Asn272Ser Uncertain significance Single submitter
- DIS3 p.Asp377His Uncertain significance Single submitter
- DIS3 p.Gln750Arg Uncertain significance Single submitter
- DIS3 p.Glu22Gln Uncertain significance Single submitter
- DIS3 p.Gly871Glu Uncertain significance Single submitter
- DIS3 p.His64Arg Uncertain significance Single submitter
- DIS3 p.His685Arg Uncertain significance Single submitter
- DIS3 p.Ile208Met Uncertain significance Single submitter
- DIS3 p.Ile208Val Uncertain significance Single submitter
- DIS3 p.Ile226Val Uncertain significance Single submitter
- DIS3 p.Ile349Leu Uncertain significance Single submitter
- DIS3 p.Ile771Thr Uncertain significance Single submitter
- DIS3 p.Ile896Val Uncertain significance Single submitter
- DIS3 p.Ile89Thr Uncertain significance Single submitter
- DIS3 p.Ile911Met Uncertain significance Single submitter
- DIS3 p.Leu2Arg Uncertain significance Single submitter
- DIS3 p.Leu433Ser Uncertain significance Single submitter
- DIS3 p.Leu651Val Uncertain significance Single submitter
- DIS3 p.Leu810Arg Uncertain significance Single submitter
- DIS3 p.Leu956Phe Uncertain significance Single submitter
- DIS3 p.Lys322Arg Uncertain significance Single submitter
- DIS3 p.Lys340Arg Uncertain significance Single submitter
- DIS3 p.Met163Lys Uncertain significance Single submitter
- DIS3 p.Met338Leu Uncertain significance Single submitter
-
DIS3 p.Met602Ile
Uncertain significance
Single submitter
Perlman syndrome
- DIS3 p.Met944Val Uncertain significance Single submitter
- DIS3 p.Phe512Val Uncertain significance Single submitter
- DIS3 p.Pro190Ser Uncertain significance Single submitter
- DIS3 p.Pro55Ala Uncertain significance Single submitter
- DIS3 p.Pro61Ser Uncertain significance Single submitter
- DIS3 p.Pro695Thr Uncertain significance Single submitter
- DIS3 p.Ser510Asn Uncertain significance Single submitter
- DIS3 p.Ser57Gly Uncertain significance Single submitter
- DIS3 p.Ser847Asn Uncertain significance Single submitter
- DIS3 p.Thr122Ile Uncertain significance Single submitter
- DIS3 p.Thr250Ile Uncertain significance Single submitter
- DIS3 p.Thr608Ala Uncertain significance Single submitter
- DIS3 p.Tyr411His Uncertain significance Single submitter
- DIS3 p.Val105Ile Uncertain significance Single submitter
- DIS3 p.Val151Leu Uncertain significance Single submitter
- DIS3 p.Val423Leu Uncertain significance Single submitter
- DIS3 p.Val439Ala Uncertain significance Single submitter
- DIS3 p.Val928Ala Uncertain significance Single submitter
Predictors split 58
The independent predictors disagree with each other — read with care.
- DIS3 p.Ala401Val Benign Multiple submitters
- DIS3 p.Ala518Thr Uncertain significance Multiple submitters
- DIS3 p.Ala253Thr Uncertain significance Single submitter
- DIS3 p.Ala390Pro Uncertain significance Single submitter
- DIS3 p.Arg144Lys Uncertain significance Single submitter
- DIS3 p.Arg370Lys Uncertain significance Single submitter
- DIS3 p.Arg493Gln Uncertain significance Single submitter
- DIS3 p.Arg611Cys Uncertain significance Single submitter
- DIS3 p.Arg638Gln Uncertain significance Single submitter
- DIS3 p.Asn100Lys Uncertain significance Single submitter
- DIS3 p.Asn569His Uncertain significance Single submitter
- DIS3 p.Asn614Lys Uncertain significance Single submitter
- DIS3 p.Asp268Val Uncertain significance Single submitter
- DIS3 p.Asp377Asn Uncertain significance Single submitter
- DIS3 p.Asp422Gly Uncertain significance Single submitter
- DIS3 p.Asp469Asn Uncertain significance Single submitter
- DIS3 p.Asp726His Uncertain significance Single submitter
- DIS3 p.Asp940Gly Uncertain significance Single submitter
- DIS3 p.Glu289Lys Uncertain significance Single submitter
- DIS3 p.Glu317Lys Uncertain significance Single submitter
- DIS3 p.Glu325Gln Uncertain significance Single submitter
- DIS3 p.Glu336Lys Uncertain significance Single submitter
- DIS3 p.Glu496Lys Uncertain significance Single submitter
- DIS3 p.Glu655Gly Uncertain significance Single submitter
- DIS3 p.Gly244Ala Uncertain significance Single submitter
- DIS3 p.Gly404Asp Uncertain significance Single submitter
- DIS3 p.Gly40Val Uncertain significance Single submitter
- DIS3 p.Gly41Glu Uncertain significance Single submitter
- DIS3 p.His231Tyr Uncertain significance Single submitter
- DIS3 p.His646Leu Uncertain significance Single submitter
- DIS3 p.His679Asp Uncertain significance Single submitter
- DIS3 p.Ile291Thr Uncertain significance Single submitter
- DIS3 p.Ile402Val Uncertain significance Single submitter
- DIS3 p.Ile506Val Uncertain significance Single submitter
- DIS3 p.Ile795Thr Uncertain significance Single submitter
- DIS3 p.Ile795Val Likely benign Single submitter
- DIS3 p.Leu211Phe Uncertain significance Single submitter
- DIS3 p.Leu247Phe Uncertain significance Single submitter
- DIS3 p.Leu67Met Uncertain significance Single submitter
- DIS3 p.Leu817Ile Uncertain significance Single submitter
- DIS3 p.Lys5Arg Uncertain significance Single submitter
- DIS3 p.Lys843Thr Uncertain significance Single submitter
- DIS3 p.Lys878Gln Uncertain significance Single submitter
- DIS3 p.Lys951Glu Uncertain significance Single submitter
- DIS3 p.Met566Val Uncertain significance Single submitter
- DIS3 p.Phe840Leu Uncertain significance Single submitter
- DIS3 p.Pro355Leu Uncertain significance Single submitter
- DIS3 p.Pro46Gln Uncertain significance Single submitter
- DIS3 p.Ser633Pro Uncertain significance Single submitter
- DIS3 p.Ser926Pro Uncertain significance Single submitter
- DIS3 p.Trp264Arg Uncertain significance Single submitter
- DIS3 p.Tyr246His Uncertain significance Single submitter
- DIS3 p.Tyr851Cys Uncertain significance Single submitter
- DIS3 p.Val346Leu Uncertain significance Single submitter
- DIS3 p.Val502Ala Uncertain significance Single submitter
- DIS3 p.Val787Ala Uncertain significance Single submitter
- DIS3 p.Val900Ala Uncertain significance Single submitter
- DIS3 p.Val98Leu Uncertain significance Single submitter
All DIS3 variants
Likely pathogenic 2
- p.Arg638Ter Single submitter Multiple Myeloma Predisposition
- p.Ile779Phe No assertion criteria plasma cell myeloma
Conflicting classifications of pathogenicity 1
- p.Gly41Arg Single submitter ⚠
Benign 4
- p.Ala401Val Multiple submitters ⚠
- c.1503+7A>G Single submitter
- p.Lys465Arg Single submitter
- p.Ile845Val No assertion criteria
Likely benign 6
- p.Ter959Gln Multiple submitters
- p.Gly628= Single submitter
- p.Ile795Val Single submitter ⚠
- p.Ser587Phe Single submitter
- p.Asn660Asp No assertion criteria DIS3-related disorder
- p.Ser361= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 116
- p.Ala518Thr Multiple submitters ⚠
- c.228+3G>A Single submitter
- c.2511+1G>C Single submitter Multiple Myeloma Predisposition
- c.988-5C>T Single submitter
- p.Ala103Val Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala261Thr Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala390Pro Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala686Val Single submitter ⚠
- p.Ala783Thr Single submitter ⚠
- p.Arg144Lys Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg370Lys Single submitter ⚠
- p.Arg384Leu Single submitter ⚠
- p.Arg410Gly Single submitter ⚠
- p.Arg493Gln Single submitter ⚠
- p.Arg611Cys Single submitter ⚠
- p.Arg638Gln Single submitter ⚠
- p.Arg746Cys Single submitter ⚠
- p.Arg746Ser Single submitter ⚠
- p.Arg856Ile Single submitter ⚠
- p.Arg924Gln Single submitter ⚠
- p.Asn100Lys Single submitter ⚠
- p.Asn272Ser Single submitter ⚠
- p.Asn569His Single submitter ⚠
- p.Asn614Lys Single submitter ⚠
- p.Asp268Val Single submitter ⚠
- p.Asp377Asn Single submitter ⚠
- p.Asp377His Single submitter ⚠
- p.Asp422Gly Single submitter ⚠
- p.Asp469Asn Single submitter ⚠
- p.Asp726His Single submitter ⚠
- p.Asp940Gly Single submitter ⚠
- p.Gln750Arg Single submitter ⚠
- p.Glu22Gln Single submitter ⚠
- p.Glu289Lys Single submitter ⚠
- p.Glu317Lys Single submitter ⚠
- p.Glu325Gln Single submitter ⚠
- p.Glu336Lys Single submitter ⚠
- p.Glu496Lys Single submitter ⚠
- p.Glu655Gly Single submitter ⚠
- p.Gly244Ala Single submitter ⚠
- p.Gly404Asp Single submitter ⚠
- p.Gly40Val Single submitter ⚠
- p.Gly41Glu Single submitter ⚠
- p.Gly871Glu Single submitter ⚠
- p.His231Tyr Single submitter ⚠
- p.His646Leu Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.His679Asp Single submitter ⚠
- p.His685Arg Single submitter ⚠
- p.His691= Single submitter
- p.Ile208Met Single submitter ⚠
- p.Ile208Val Single submitter ⚠
- p.Ile226Val Single submitter ⚠
- p.Ile291Thr Single submitter ⚠
- p.Ile349Leu Single submitter ⚠
- p.Ile402Val Single submitter ⚠
- p.Ile506Val Single submitter ⚠
- p.Ile771Thr Single submitter ⚠
- p.Ile795Thr Single submitter ⚠
- p.Ile896Val Single submitter ⚠
- p.Ile89Thr Single submitter ⚠
- p.Ile911Met Single submitter ⚠
- p.Leu211Phe Single submitter ⚠
- p.Leu247Phe Single submitter ⚠
- p.Leu2Arg Single submitter ⚠
- p.Leu433Ser Single submitter ⚠
- p.Leu651Val Single submitter ⚠
- p.Leu67Met Single submitter ⚠
- p.Leu810Arg Single submitter ⚠
- p.Leu817Ile Single submitter ⚠
- p.Leu956Phe Single submitter ⚠
- p.Lys322Arg Single submitter ⚠
- p.Lys340Arg Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys843Thr Single submitter ⚠
- p.Lys878Gln Single submitter ⚠
- p.Lys951Glu Single submitter ⚠
- p.Met163Lys Single submitter ⚠
- p.Met338Leu Single submitter ⚠
- p.Met566Val Single submitter ⚠
- p.Met602Ile Single submitter Perlman syndrome ⚠
- p.Met944Val Single submitter ⚠
- p.Phe512Val Single submitter ⚠
- p.Phe840Leu Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Pro46Gln Single submitter ⚠
- p.Pro55Ala Single submitter ⚠
- p.Pro61Ser Single submitter ⚠
- p.Pro695Thr Single submitter ⚠
- p.Ser510Asn Single submitter ⚠
- p.Ser57Gly Single submitter ⚠
- p.Ser633Pro Single submitter ⚠
- p.Ser847Asn Single submitter ⚠
- p.Ser926Pro Single submitter ⚠
- p.Thr122Ile Single submitter ⚠
- p.Thr250Ile Single submitter ⚠
- p.Thr608Ala Single submitter ⚠
- p.Trp264Arg Single submitter ⚠
- p.Tyr246His Single submitter ⚠
- p.Tyr411His Single submitter ⚠
- p.Tyr851Cys Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val151Leu Single submitter ⚠
- p.Val346Leu Single submitter ⚠
- p.Val423Leu Single submitter ⚠
- p.Val439Ala Single submitter ⚠
- p.Val502Ala Single submitter ⚠
- p.Val787Ala Single submitter ⚠
- p.Val900Ala Single submitter ⚠
- p.Val928Ala Single submitter ⚠
- p.Val98Leu Single submitter ⚠