ALPI — 162 ClinVar variants
All ClinVar germline ALPI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
1 Likely pathogenic · 1 Conflicting · 12 Benign · 58 Likely benign · 90 Uncertain significance
Full ALPI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALPI p.Ala97Thr Uncertain significance Multiple submitters
- ALPI p.Gln171Arg Uncertain significance Multiple submitters
- ALPI p.Glu449Asp Uncertain significance Multiple submitters
-
ALPI p.Pro28Leu
Uncertain significance
Multiple submitters
inflammatory bowel disease
- ALPI p.Ala124Gly Uncertain significance Single submitter
- ALPI p.Ala135Ser Uncertain significance Single submitter
- ALPI p.Ala135Thr Uncertain significance Single submitter
- ALPI p.Ala173Thr Uncertain significance Single submitter
- ALPI p.Ala275Val Uncertain significance Single submitter
- ALPI p.Ala314Thr Uncertain significance Single submitter
- ALPI p.Ala346Thr Uncertain significance Single submitter
- ALPI p.Ala510Pro Uncertain significance Single submitter
- ALPI p.Ala52Thr Uncertain significance Single submitter
- ALPI p.Ala70Gly Uncertain significance Single submitter
- ALPI p.Ala97Gly Uncertain significance Single submitter
- ALPI p.Arg154Gln Uncertain significance Single submitter
- ALPI p.Arg223Cys Uncertain significance Single submitter
- ALPI p.Arg269His Uncertain significance Single submitter
- ALPI p.Asn429Lys Uncertain significance Single submitter
- ALPI p.Asp335Asn Uncertain significance Single submitter
- ALPI p.Asp335Tyr Uncertain significance Single submitter
- ALPI p.Asp355Asn Uncertain significance Single submitter
- ALPI p.Asp40His Uncertain significance Single submitter
- ALPI p.Asp61Asn Uncertain significance Single submitter
- ALPI p.Cys500Arg Uncertain significance Single submitter
- ALPI p.Gln139Pro Uncertain significance Single submitter
- ALPI p.Gln279Lys Uncertain significance Single submitter
- ALPI p.Glu309Lys Uncertain significance Single submitter
- ALPI p.Glu312Gln Uncertain significance Single submitter
- ALPI p.Glu473Lys Uncertain significance Single submitter
- ALPI p.Gly121Arg Uncertain significance Single submitter
- ALPI p.Gly130Ser Uncertain significance Single submitter
- ALPI p.Gly159Glu Uncertain significance Single submitter
-
ALPI p.Gly163Arg
Uncertain significance
Single submitter
ALPI-related disorder
- ALPI p.Gly177Ser Uncertain significance Single submitter
- ALPI p.Gly332Ser Uncertain significance Single submitter
- ALPI p.Gly341Cys Uncertain significance Single submitter
- ALPI p.Gly395Glu Uncertain significance Single submitter
- ALPI p.Gly413Asp Uncertain significance Single submitter
- ALPI p.His339Asp Uncertain significance Single submitter
- ALPI p.His377Gln Uncertain significance Single submitter
- ALPI p.His506Asn Uncertain significance Single submitter
- ALPI p.Leu45Met Uncertain significance Single submitter
- ALPI p.Leu495Pro Uncertain significance Single submitter
- ALPI p.Lys156Glu Uncertain significance Single submitter
- ALPI p.Met193Val Uncertain significance Single submitter
- ALPI p.Pro232Ser Uncertain significance Single submitter
- ALPI p.Pro290Leu Uncertain significance Single submitter
- ALPI p.Pro436Ala Uncertain significance Single submitter
- ALPI p.Pro463Arg Uncertain significance Single submitter
- ALPI p.Ser111Thr Uncertain significance Single submitter
- ALPI p.Ser132Arg Uncertain significance Single submitter
- ALPI p.Ser132Asn Uncertain significance Single submitter
- ALPI p.Ser174Leu Uncertain significance Single submitter
- ALPI p.Ser365Asn Uncertain significance Single submitter
- ALPI p.Ser409Tyr Uncertain significance Single submitter
- ALPI p.Ser99Tyr Uncertain significance Single submitter
- ALPI p.Thr282Asn Uncertain significance Single submitter
- ALPI p.Thr491Arg Uncertain significance Single submitter
- ALPI p.Thr67Met Uncertain significance Single submitter
- ALPI p.Val329Ala Uncertain significance Single submitter
- ALPI p.Val424Met Uncertain significance Single submitter
- ALPI p.Val444Leu Uncertain significance Single submitter
-
ALPI p.Ala510Ser
Uncertain significance
No assertion criteria
ALPI-related disorder
Predictors split 22
The independent predictors disagree with each other — read with care.
- ALPI p.Arg92Cys Likely benign Multiple submitters
- ALPI p.Leu9Pro Uncertain significance Multiple submitters
- ALPI p.Ala180Thr Uncertain significance Single submitter
- ALPI p.Ala38Asp Uncertain significance Single submitter
- ALPI p.Ala401Ser Uncertain significance Single submitter
-
ALPI p.Arg136Cys
Uncertain significance
Single submitter
inflammatory bowel disease
- ALPI p.Arg144Cys Uncertain significance Single submitter
- ALPI p.Arg198Cys Uncertain significance Single submitter
- ALPI p.Arg269Cys Uncertain significance Single submitter
- ALPI p.Arg316Cys Uncertain significance Single submitter
- ALPI p.Arg323Cys Uncertain significance Single submitter
- ALPI p.Cys493Tyr Uncertain significance Single submitter
- ALPI p.Gly201Arg Uncertain significance Single submitter
- ALPI p.Leu514Arg Uncertain significance Single submitter
- ALPI p.Leu7Pro Uncertain significance Single submitter
- ALPI p.Met226Val Uncertain significance Single submitter
- ALPI p.Pro94Ser Uncertain significance Single submitter
- ALPI p.Thr142Met Uncertain significance Single submitter
- ALPI p.Thr143Lys Uncertain significance Single submitter
- ALPI p.Thr311Ala Uncertain significance Single submitter
- ALPI p.Val266Ala Uncertain significance Single submitter
- ALPI p.Val373Ile Likely benign Single submitter
All ALPI variants
Likely pathogenic 1
- p.Gln439Ter Single submitter
Conflicting classifications of pathogenicity 1
- p.Gly423= Single submitter
Benign 12
- c.1183+59T>C Single submitter
- c.783+15T>C Single submitter
- c.783+8G>A Single submitter
- c.991+33C>T Single submitter
- p.Asp355= Single submitter
- p.Gly341= Single submitter
- p.Ser111= Single submitter
- p.Arg144His No assertion criteria ALPI-related disorder
- p.Arg33Leu No assertion criteria ALPI-related disorder
- p.Asn146Lys No assertion criteria ALPI-related disorder
- p.Thr207Ile No assertion criteria ALPI-related disorder
- p.Val20Ile No assertion criteria ALPI-related disorder
Likely benign 58
- p.Arg92Cys Multiple submitters ⚠
- p.Asp248= Multiple submitters
- p.Gly220= Multiple submitters
- c.1184-15C>T Single submitter
- c.1184-19G>C Single submitter
- c.301-4G>A Single submitter
- c.301-5C>T Single submitter
- c.301-7T>C Single submitter
- c.649-13C>G Single submitter
- c.67+17A>G Single submitter
- c.857-7C>T Single submitter
- c.991+13C>G Single submitter
- c.991+19G>A Single submitter
- c.992-17C>G Single submitter
- c.992-19C>G Single submitter
- c.-7C>G Single submitter
- c.*13G>A Single submitter
- p.Ala117= Single submitter
- p.Ala134= Single submitter
- p.Ala275= Single submitter
- p.Ala313= Single submitter
- p.Ala350= Single submitter
- p.Ala360= Single submitter
- p.Arg198Leu Single submitter
- p.Arg92His Single submitter
- p.Asn429= Single submitter
- p.Asp216= Single submitter
- p.Asp427= Single submitter
- p.Asp494Asn Single submitter
- p.Cys120= Single submitter
- p.Glu147= Single submitter
- p.Glu200Lys Single submitter
- p.Glu340Asp Single submitter
- p.Gly415= Single submitter
- p.Gly517= Single submitter
- p.His172= Single submitter
- p.Ile149= Single submitter
- p.Leu372= Single submitter
- p.Leu388Phe Single submitter
- p.Leu514= Single submitter
- p.Leu521= Single submitter
- p.Leu88= Single submitter
- p.Pro290= Single submitter
- p.Pro426= Single submitter
- p.Ser174= Single submitter
- p.Ser365= Single submitter
- p.Ser448= Single submitter
- p.Thr143= Single submitter
- p.Thr178Ala Single submitter
- p.Thr231= Single submitter
- p.Thr282= Single submitter
- p.Thr374= Single submitter
- p.Tyr407= Single submitter
- p.Val373Ile Single submitter ⚠
- p.Val444= Single submitter
- p.Ala496= No assertion criteria ALPI-related disorder
- p.Gly395= No assertion criteria ALPI-related disorder
- p.Val51= No assertion criteria ALPI-related disorder
Uncertain significance 90
- p.Ala97Thr Multiple submitters ⚠
- p.Arg299Ter Multiple submitters
- p.Gln171Arg Multiple submitters ⚠
- p.Glu449Asp Multiple submitters ⚠
- p.Leu9Pro Multiple submitters ⚠
- p.Pro28Leu Multiple submitters inflammatory bowel disease ⚠
- p.Ala124Gly Single submitter ⚠
- p.Ala124Val Single submitter
- p.Ala135Ser Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala173Thr Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala275Val Single submitter ⚠
- p.Ala314Thr Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala38Asp Single submitter ⚠
- p.Ala401Ser Single submitter ⚠
- p.Ala510Pro Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala70Gly Single submitter ⚠
- p.Ala97Gly Single submitter ⚠
- p.Arg136Cys Single submitter inflammatory bowel disease ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg198Cys Single submitter ⚠
- p.Arg223Cys Single submitter ⚠
- p.Arg269Cys Single submitter ⚠
- p.Arg269Gly Single submitter
- p.Arg269His Single submitter ⚠
- p.Arg316Cys Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Asn429Lys Single submitter ⚠
- p.Asp335Asn Single submitter ⚠
- p.Asp335Tyr Single submitter ⚠
- p.Asp355Asn Single submitter ⚠
- p.Asp40His Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Cys493Tyr Single submitter ⚠
- p.Cys500Arg Single submitter ⚠
- p.Gln139Pro Single submitter ⚠
- p.Gln279Lys Single submitter ⚠
- p.Glu309Lys Single submitter ⚠
- p.Glu312Gln Single submitter ⚠
- p.Glu473Lys Single submitter ⚠
- p.Gly121Arg Single submitter ⚠
- p.Gly130Ser Single submitter ⚠
- p.Gly159Glu Single submitter ⚠
- p.Gly163Arg Single submitter ALPI-related disorder ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly332Ser Single submitter ⚠
- p.Gly341Cys Single submitter ⚠
- p.Gly395Glu Single submitter ⚠
- p.Gly413Asp Single submitter ⚠
- p.His339Asp Single submitter ⚠
- p.His377Gln Single submitter ⚠
- p.His506Asn Single submitter ⚠
- p.Leu45Met Single submitter ⚠
- p.Leu495Pro Single submitter ⚠
- p.Leu514Arg Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys156Glu Single submitter ⚠
- p.Met193Val Single submitter ⚠
- p.Met226Val Single submitter ⚠
- p.Met352Ile Single submitter
- p.Pro232Ser Single submitter ⚠
- p.Pro290Leu Single submitter ⚠
- p.Pro436Ala Single submitter ⚠
- p.Pro463Arg Single submitter ⚠
- p.Pro94Ser Single submitter ⚠
- p.Ser111Thr Single submitter ⚠
- p.Ser132Arg Single submitter ⚠
- p.Ser132Asn Single submitter ⚠
- p.Ser174Leu Single submitter ⚠
- p.Ser365Asn Single submitter ⚠
- p.Ser409Tyr Single submitter ⚠
- p.Ser99Tyr Single submitter ⚠
- p.Thr142Arg Single submitter
- p.Thr142Met Single submitter ⚠
- p.Thr143Lys Single submitter ⚠
- p.Thr282Asn Single submitter ⚠
- p.Thr311Ala Single submitter ⚠
- p.Thr491Arg Single submitter ⚠
- p.Thr67Met Single submitter ⚠
- p.Val151Met Single submitter
- p.Val266Ala Single submitter ⚠
- p.Val329Ala Single submitter ⚠
- p.Val424Met Single submitter ⚠
- p.Val444Leu Single submitter ⚠
- p.Ala510Ser No assertion criteria ALPI-related disorder ⚠