SEC23IP — 147 ClinVar variants
All ClinVar germline SEC23IP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
13 Benign · 1 Benign/Likely benign · 12 Likely benign · 121 Uncertain significance
Full SEC23IP 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 lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SEC23IP p.Ala197Val Uncertain significance Single submitter
- SEC23IP p.Ala211Val Uncertain significance Single submitter
- SEC23IP p.Ala247Ser Uncertain significance Single submitter
- SEC23IP p.Ala247Thr Uncertain significance Single submitter
- SEC23IP p.Ala338Val Uncertain significance Single submitter
- SEC23IP p.Arg184Cys Uncertain significance Single submitter
- SEC23IP p.Arg326Gln Uncertain significance Single submitter
- SEC23IP p.Arg381Gln Uncertain significance Single submitter
- SEC23IP p.Arg422Gly Uncertain significance Single submitter
- SEC23IP p.Arg4Gly Uncertain significance Single submitter
- SEC23IP p.Arg527Gln Uncertain significance Single submitter
- SEC23IP p.Arg747Gly Uncertain significance Single submitter
- SEC23IP p.Arg946His Uncertain significance Single submitter
- SEC23IP p.Arg989Gln Uncertain significance Single submitter
- SEC23IP p.Asn34Ser Uncertain significance Single submitter
- SEC23IP p.Asn595Ser Uncertain significance Single submitter
- SEC23IP p.Asn612Ser Uncertain significance Single submitter
- SEC23IP p.Asn743Asp Uncertain significance Single submitter
- SEC23IP p.Asn743Ser Uncertain significance Single submitter
- SEC23IP p.Asn761Tyr Uncertain significance Single submitter
- SEC23IP p.Asn992Asp Uncertain significance Single submitter
- SEC23IP p.Asp509Asn Uncertain significance Single submitter
- SEC23IP p.Cys759Arg Uncertain significance Single submitter
- SEC23IP p.Cys972Arg Uncertain significance Single submitter
- SEC23IP p.Gln141His Uncertain significance Single submitter
- SEC23IP p.Gln171His Uncertain significance Single submitter
- SEC23IP p.Gln203His Uncertain significance Single submitter
- SEC23IP p.Gln224Arg Uncertain significance Single submitter
- SEC23IP p.Gln265His Uncertain significance Single submitter
- SEC23IP p.Gln621Arg Uncertain significance Single submitter
- SEC23IP p.Gln916Arg Uncertain significance Single submitter
- SEC23IP p.Glu267Asp Uncertain significance Single submitter
- SEC23IP p.Glu267Lys Uncertain significance Single submitter
- SEC23IP p.Glu336Lys Uncertain significance Single submitter
- SEC23IP p.Glu673Lys Uncertain significance Single submitter
- SEC23IP p.Glu911Asp Uncertain significance Single submitter
- SEC23IP p.Glu975Asp Uncertain significance Single submitter
- SEC23IP p.Gly11Asp Uncertain significance Single submitter
- SEC23IP p.Gly452Cys Uncertain significance Single submitter
- SEC23IP p.Gly507Ser Uncertain significance Single submitter
- SEC23IP p.Gly512Asp Uncertain significance Single submitter
- SEC23IP p.Gly526Ser Uncertain significance Single submitter
- SEC23IP p.Gly526Val Uncertain significance Single submitter
- SEC23IP p.Gly585Ala Uncertain significance Single submitter
- SEC23IP p.Gly8Ala Uncertain significance Single submitter
- SEC23IP p.His530Tyr Uncertain significance Single submitter
- SEC23IP p.His848Asn Uncertain significance Single submitter
- SEC23IP p.Ile399Thr Uncertain significance Single submitter
- SEC23IP p.Ile517Met Uncertain significance Single submitter
- SEC23IP p.Ile793Leu Uncertain significance Single submitter
- SEC23IP p.Ile948Val Uncertain significance Single submitter
- SEC23IP p.Ile957Thr Uncertain significance Single submitter
- SEC23IP p.Leu936Ser Uncertain significance Single submitter
- SEC23IP p.Leu942Ile Uncertain significance Single submitter
- SEC23IP p.Lys115Glu Uncertain significance Single submitter
- SEC23IP p.Lys329Gln Uncertain significance Single submitter
- SEC23IP p.Lys667Glu Uncertain significance Single submitter
- SEC23IP p.Lys871Arg Uncertain significance Single submitter
- SEC23IP p.Met150Val Uncertain significance Single submitter
- SEC23IP p.Met625Thr Uncertain significance Single submitter
- SEC23IP p.Met735Ile Uncertain significance Single submitter
- SEC23IP p.Met795Val Uncertain significance Single submitter
- SEC23IP p.Phe786Ile Uncertain significance Single submitter
- SEC23IP p.Pro114Leu Uncertain significance Single submitter
- SEC23IP p.Pro121Ser Uncertain significance Single submitter
- SEC23IP p.Pro194Thr Uncertain significance Single submitter
- SEC23IP p.Pro227Ala Uncertain significance Single submitter
- SEC23IP p.Pro231Arg Uncertain significance Single submitter
- SEC23IP p.Pro232Leu Uncertain significance Single submitter
- SEC23IP p.Pro271Leu Uncertain significance Single submitter
- SEC23IP p.Pro455Ser Uncertain significance Single submitter
- SEC23IP p.Pro545His Uncertain significance Single submitter
- SEC23IP p.Pro626Thr Uncertain significance Single submitter
- SEC23IP p.Pro745Arg Uncertain significance Single submitter
- SEC23IP p.Pro823Leu Uncertain significance Single submitter
- SEC23IP p.Pro927Ser Uncertain significance Single submitter
- SEC23IP p.Ser10Arg Uncertain significance Single submitter
- SEC23IP p.Ser138Leu Uncertain significance Single submitter
- SEC23IP p.Ser166Leu Uncertain significance Single submitter
- SEC23IP p.Ser27Leu Uncertain significance Single submitter
- SEC23IP p.Ser289Thr Uncertain significance Single submitter
- SEC23IP p.Ser302Ala Uncertain significance Single submitter
- SEC23IP p.Ser463Thr Uncertain significance Single submitter
- SEC23IP p.Ser737Phe Uncertain significance Single submitter
- SEC23IP p.Ser75Phe Uncertain significance Single submitter
- SEC23IP p.Ser926Gly Uncertain significance Single submitter
- SEC23IP p.Thr15Ile Uncertain significance Single submitter
- SEC23IP p.Thr29Met Uncertain significance Single submitter
- SEC23IP p.Thr351Ala Uncertain significance Single submitter
- SEC23IP p.Thr375Ser Uncertain significance Single submitter
- SEC23IP p.Thr720Ser Uncertain significance Single submitter
- SEC23IP p.Thr893Ala Uncertain significance Single submitter
- SEC23IP p.Tyr322Cys Uncertain significance Single submitter
- SEC23IP p.Tyr829Cys Uncertain significance Single submitter
- SEC23IP p.Tyr988Ser Uncertain significance Single submitter
- SEC23IP p.Val311Ile Uncertain significance Single submitter
- SEC23IP p.Val423Ile Uncertain significance Single submitter
- SEC23IP p.Val456Glu Uncertain significance Single submitter
- SEC23IP p.Val552Met Uncertain significance Single submitter
- SEC23IP p.Val646Ala Uncertain significance Single submitter
- SEC23IP p.Val751Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- SEC23IP p.Arg382Lys Uncertain significance Single submitter
- SEC23IP p.Arg460His Uncertain significance Single submitter
- SEC23IP p.Arg462Lys Uncertain significance Single submitter
- SEC23IP p.Arg529His Uncertain significance Single submitter
- SEC23IP p.Arg946Cys Uncertain significance Single submitter
- SEC23IP p.Gln968Glu Uncertain significance Single submitter
- SEC23IP p.Glu673Gly Uncertain significance Single submitter
- SEC23IP p.Glu858Asp Uncertain significance Single submitter
- SEC23IP p.Gly68Asp Uncertain significance Single submitter
- SEC23IP p.Gly770Arg Uncertain significance Single submitter
- SEC23IP p.Met677Lys Uncertain significance Single submitter
- SEC23IP p.Phe80Leu Uncertain significance Single submitter
- SEC23IP p.Thr511Ala Uncertain significance Single submitter
- SEC23IP p.Val310Met Uncertain significance Single submitter
All SEC23IP variants
Benign 13
- c.1102-5T>A Multiple submitters
- p.Ala45Thr Multiple submitters
- p.Gln110= Multiple submitters
- p.Pro209Ser Multiple submitters
- p.Leu50= Single submitter
- c.1403-9C>A No assertion criteria SEC23IP-related disorder
- c.2313+10C>T No assertion criteria SEC23IP-related disorder
- c.2922-4A>T No assertion criteria SEC23IP-related disorder
- p.Ala711= No assertion criteria SEC23IP-related disorder
- p.Asp429= No assertion criteria SEC23IP-related disorder
- p.Asp638His No assertion criteria SEC23IP-related disorder
- p.Lys644Glu No assertion criteria SEC23IP-related disorder
- p.Thr990= No assertion criteria SEC23IP-related disorder
Benign/Likely benign 1
- p.Ala718Val Multiple submitters
Likely benign 12
- p.Ala828= Single submitter
- p.Asp489= Single submitter
- p.His1000= Single submitter
- p.Val423= Single submitter
- c.1102-7A>C No assertion criteria SEC23IP-related disorder
- c.1312+3G>A No assertion criteria SEC23IP-related disorder
- p.Asn612= No assertion criteria SEC23IP-related disorder
- p.Gly507Cys No assertion criteria SEC23IP-related disorder
- p.Pro114= No assertion criteria SEC23IP-related disorder
- p.Thr413Ala No assertion criteria SEC23IP-related disorder
- p.Thr414Met No assertion criteria SEC23IP-related disorder
- p.Tyr809= No assertion criteria SEC23IP-related disorder
Uncertain significance 121
- p.Ala197Val Single submitter ⚠
- p.Ala211Val Single submitter ⚠
- p.Ala247Ser Single submitter ⚠
- p.Ala247Thr Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg382Lys Single submitter ⚠
- p.Arg422Gly Single submitter ⚠
- p.Arg460His Single submitter ⚠
- p.Arg462Lys Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg529His Single submitter ⚠
- p.Arg747Gly Single submitter ⚠
- p.Arg890His Single submitter
- p.Arg946Cys Single submitter ⚠
- p.Arg946His Single submitter ⚠
- p.Arg989Gln Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asn595Ser Single submitter ⚠
- p.Asn612Ser Single submitter ⚠
- p.Asn743Asp Single submitter ⚠
- p.Asn743Ser Single submitter ⚠
- p.Asn761Tyr Single submitter ⚠
- p.Asn992Asp Single submitter ⚠
- p.Asp509Asn Single submitter ⚠
- p.Asp514His Single submitter
- p.Cys678Phe Single submitter
- p.Cys759Arg Single submitter ⚠
- p.Cys972Arg Single submitter ⚠
- p.Gln141His Single submitter ⚠
- p.Gln171His Single submitter ⚠
- p.Gln203His Single submitter ⚠
- p.Gln224Arg Single submitter ⚠
- p.Gln265His Single submitter ⚠
- p.Gln621Arg Single submitter ⚠
- p.Gln916Arg Single submitter ⚠
- p.Gln968Glu Single submitter ⚠
- p.Glu267Asp Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu336Lys Single submitter ⚠
- p.Glu673Gly Single submitter ⚠
- p.Glu673Lys Single submitter ⚠
- p.Glu858Asp Single submitter ⚠
- p.Glu911Asp Single submitter ⚠
- p.Glu975Asp Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly452Cys Single submitter ⚠
- p.Gly507Ser Single submitter ⚠
- p.Gly512Asp Single submitter ⚠
- p.Gly526Ser Single submitter ⚠
- p.Gly526Val Single submitter ⚠
- p.Gly585Ala Single submitter ⚠
- p.Gly68Asp Single submitter ⚠
- p.Gly770Arg Single submitter ⚠
- p.Gly8Ala Single submitter ⚠
- p.His530Tyr Single submitter ⚠
- p.His848Asn Single submitter ⚠
- p.Ile399Thr Single submitter ⚠
- p.Ile517Met Single submitter ⚠
- p.Ile793Leu Single submitter ⚠
- p.Ile948Val Single submitter ⚠
- p.Ile957Thr Single submitter ⚠
- p.Leu936Ser Single submitter ⚠
- p.Leu942Ile Single submitter ⚠
- p.Lys115Glu Single submitter ⚠
- p.Lys329Gln Single submitter ⚠
- p.Lys667Glu Single submitter ⚠
- p.Lys871Arg Single submitter ⚠
- p.Met150Val Single submitter ⚠
- p.Met625Thr Single submitter ⚠
- p.Met677Lys Single submitter ⚠
- p.Met735Ile Single submitter ⚠
- p.Met795Val Single submitter ⚠
- p.Phe786Ile Single submitter ⚠
- p.Phe80Leu Single submitter ⚠
- p.Pro114Leu Single submitter ⚠
- p.Pro121Ser Single submitter ⚠
- p.Pro194Thr Single submitter ⚠
- p.Pro227Ala Single submitter ⚠
- p.Pro231Arg Single submitter ⚠
- p.Pro232Leu Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro455Ser Single submitter ⚠
- p.Pro545His Single submitter ⚠
- p.Pro626Thr Single submitter ⚠
- p.Pro745Arg Single submitter ⚠
- p.Pro823Leu Single submitter ⚠
- p.Pro927Ser Single submitter ⚠
- p.Ser10Arg Single submitter ⚠
- p.Ser138Leu Single submitter ⚠
- p.Ser166Leu Single submitter ⚠
- p.Ser27Leu Single submitter ⚠
- p.Ser289Thr Single submitter ⚠
- p.Ser302Ala Single submitter ⚠
- p.Ser463Thr Single submitter ⚠
- p.Ser737Phe Single submitter ⚠
- p.Ser75Phe Single submitter ⚠
- p.Ser926Gly Single submitter ⚠
- p.Thr15Ile Single submitter ⚠
- p.Thr29Met Single submitter ⚠
- p.Thr314Met Single submitter
- p.Thr351Ala Single submitter ⚠
- p.Thr375Ser Single submitter ⚠
- p.Thr511Ala Single submitter ⚠
- p.Thr720Ser Single submitter ⚠
- p.Thr893Ala Single submitter ⚠
- p.Tyr322Cys Single submitter ⚠
- p.Tyr829Cys Single submitter ⚠
- p.Tyr988Ser Single submitter ⚠
- p.Val310Met Single submitter ⚠
- p.Val311Ile Single submitter ⚠
- p.Val423Ile Single submitter ⚠
- p.Val456Glu Single submitter ⚠
- p.Val552Met Single submitter ⚠
- p.Val646Ala Single submitter ⚠
- p.Val751Ala Single submitter ⚠
- p.Gln270Ter No assertion criteria SEC23IP-related disorder
- p.Tyr300Ter No assertion criteria SEC23IP-related disorder