DDI1 — 79 ClinVar variants
All ClinVar germline DDI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
4 Benign · 5 Likely benign · 70 Uncertain significance
Full DDI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDI1 p.Ala100Val Uncertain significance Single submitter
- DDI1 p.Ala36Gly Uncertain significance Single submitter
- DDI1 p.Ala84Val Uncertain significance Single submitter
- DDI1 p.Arg108Gly Uncertain significance Single submitter
- DDI1 p.Arg124Pro Uncertain significance Single submitter
- DDI1 p.Arg393Gly Uncertain significance Single submitter
- DDI1 p.Arg83Gln Uncertain significance Single submitter
- DDI1 p.Arg87His Uncertain significance Single submitter
- DDI1 p.Asp156His Uncertain significance Single submitter
- DDI1 p.Asp68Tyr Uncertain significance Single submitter
- DDI1 p.Asp95Gly Uncertain significance Single submitter
- DDI1 p.Cys316Tyr Uncertain significance Single submitter
- DDI1 p.Cys340Arg Uncertain significance Single submitter
- DDI1 p.Cys59Arg Uncertain significance Single submitter
- DDI1 p.Gln117Arg Uncertain significance Single submitter
- DDI1 p.Gly113Arg Uncertain significance Single submitter
- DDI1 p.Gly292Ala Uncertain significance Single submitter
- DDI1 p.Ile246Thr Uncertain significance Single submitter
- DDI1 p.Leu145Arg Uncertain significance Single submitter
- DDI1 p.Leu329Phe Uncertain significance Single submitter
- DDI1 p.Leu344Val Uncertain significance Single submitter
- DDI1 p.Leu361Pro Uncertain significance Single submitter
- DDI1 p.Lys67Arg Uncertain significance Single submitter
- DDI1 p.Met268Lys Uncertain significance Single submitter
- DDI1 p.Met389Thr Uncertain significance Single submitter
- DDI1 p.Pro112Leu Uncertain significance Single submitter
- DDI1 p.Pro112Thr Uncertain significance Single submitter
- DDI1 p.Pro120Ser Uncertain significance Single submitter
- DDI1 p.Ser261Leu Uncertain significance Single submitter
- DDI1 p.Ser379Thr Uncertain significance Single submitter
- DDI1 p.Thr119Pro Uncertain significance Single submitter
- DDI1 p.Val72Leu Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- DDI1 p.Arg219Trp Uncertain significance Single submitter
- DDI1 p.Arg275Gln Uncertain significance Single submitter
- DDI1 p.Arg285Gln Uncertain significance Single submitter
- DDI1 p.Arg301His Uncertain significance Single submitter
- DDI1 p.Arg336Gly Uncertain significance Single submitter
- DDI1 p.Arg336Trp Uncertain significance Single submitter
- DDI1 p.Asn153Lys Uncertain significance Single submitter
- DDI1 p.Asn222Ser Uncertain significance Single submitter
- DDI1 p.Cys59Tyr Uncertain significance Single submitter
- DDI1 p.Gln195Pro Uncertain significance Single submitter
- DDI1 p.Gln296Arg Uncertain significance Single submitter
- DDI1 p.Glu132Lys Uncertain significance Single submitter
- DDI1 p.Glu189Gly Uncertain significance Single submitter
- DDI1 p.Glu274Ala Uncertain significance Single submitter
- DDI1 p.Glu274Val Uncertain significance Single submitter
- DDI1 p.Gly136Cys Uncertain significance Single submitter
- DDI1 p.Ile351Val Uncertain significance Single submitter
- DDI1 p.Leu33Phe Uncertain significance Single submitter
- DDI1 p.Leu366Phe Uncertain significance Single submitter
- DDI1 p.Lys256Gln Uncertain significance Single submitter
- DDI1 p.Met227Lys Uncertain significance Single submitter
- DDI1 p.Met279Thr Uncertain significance Single submitter
- DDI1 p.Pro109Leu Uncertain significance Single submitter
- DDI1 p.Pro120Leu Uncertain significance Single submitter
- DDI1 p.Pro165Thr Uncertain significance Single submitter
- DDI1 p.Pro23Arg Uncertain significance Single submitter
- DDI1 p.Pro367Ser Uncertain significance Single submitter
- DDI1 p.Pro82Leu Uncertain significance Single submitter
- DDI1 p.Ser173Arg Uncertain significance Single submitter
- DDI1 p.Ser269Asn Uncertain significance Single submitter
- DDI1 p.Ser60Phe Uncertain significance Single submitter
- DDI1 p.Thr266Ile Uncertain significance Single submitter
- DDI1 p.Thr356Ala Uncertain significance Single submitter
- DDI1 p.Tyr201Ser Uncertain significance Single submitter
- DDI1 p.Val350Leu Uncertain significance Single submitter
- DDI1 p.Val42Ile Uncertain significance Single submitter
- DDI1 p.Val5Met Uncertain significance Single submitter
All DDI1 variants
Benign 4
- p.Asp323Asn Multiple submitters
- p.His155= Multiple submitters
- p.Pro41= Multiple submitters
- p.Thr178= Multiple submitters
Likely benign 5
- p.Ala121Ser Single submitter
- p.Glu395fs Single submitter
- p.Ile71Met Single submitter
- p.Ile71Val Single submitter
- p.Val134Met Single submitter
Uncertain significance 70
- p.Ala100Val Single submitter ⚠
- p.Ala36Gly Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Arg108Gly Single submitter ⚠
- p.Arg124Pro Single submitter ⚠
- p.Arg219Trp Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Arg336Gly Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg393Gly Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Asn153Lys Single submitter ⚠
- p.Asn222Ser Single submitter ⚠
- p.Asp156His Single submitter ⚠
- p.Asp68Tyr Single submitter ⚠
- p.Asp95Gly Single submitter ⚠
- p.Cys316Tyr Single submitter ⚠
- p.Cys340Arg Single submitter ⚠
- p.Cys59Arg Single submitter ⚠
- p.Cys59Tyr Single submitter ⚠
- p.Gln117Arg Single submitter ⚠
- p.Gln195Pro Single submitter ⚠
- p.Gln296Arg Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu189Gly Single submitter ⚠
- p.Glu274Ala Single submitter ⚠
- p.Glu274Val Single submitter ⚠
- p.Gly113Arg Single submitter ⚠
- p.Gly136Cys Single submitter ⚠
- p.Gly292Ala Single submitter ⚠
- p.Ile246Thr Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Leu145Arg Single submitter ⚠
- p.Leu329Phe Single submitter ⚠
- p.Leu33Phe Single submitter ⚠
- p.Leu344Val Single submitter ⚠
- p.Leu361Pro Single submitter ⚠
- p.Leu366Phe Single submitter ⚠
- p.Lys256Gln Single submitter ⚠
- p.Lys67Arg Single submitter ⚠
- p.Met227Lys Single submitter ⚠
- p.Met268Lys Single submitter ⚠
- p.Met279Thr Single submitter ⚠
- p.Met389Thr Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro112Thr Single submitter ⚠
- p.Pro120Leu Single submitter ⚠
- p.Pro120Ser Single submitter ⚠
- p.Pro165Thr Single submitter ⚠
- p.Pro23Arg Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser173Arg Single submitter ⚠
- p.Ser261Leu Single submitter ⚠
- p.Ser269Asn Single submitter ⚠
- p.Ser379Thr Single submitter ⚠
- p.Ser60Phe Single submitter ⚠
- p.Thr119Pro Single submitter ⚠
- p.Thr266Ile Single submitter ⚠
- p.Thr356Ala Single submitter ⚠
- p.Tyr201Ser Single submitter ⚠
- p.Val350Leu Single submitter ⚠
- p.Val42Ile Single submitter ⚠
- p.Val5Met Single submitter ⚠
- p.Val72Leu Single submitter ⚠
- p.Gly239Ter No assertion criteria premature menopause