APCS — 34 ClinVar variants
All ClinVar germline APCS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
5 Likely benign · 29 Uncertain significance
Full APCS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APCS p.Ala146Thr Uncertain significance Single submitter
- APCS p.Ala58Val Uncertain significance Single submitter
- APCS p.Arg86Gly Uncertain significance Single submitter
- APCS p.Gln74Glu Uncertain significance Single submitter
- APCS p.Ile113Phe Uncertain significance Single submitter
- APCS p.Ile211Thr Uncertain significance Single submitter
- APCS p.Ile216Leu Uncertain significance Single submitter
- APCS p.Met178Thr Uncertain significance Single submitter
- APCS p.Pro132Ala Uncertain significance Single submitter
- APCS p.Pro44Leu Uncertain significance Single submitter
- APCS p.Pro4Ala Uncertain significance Single submitter
- APCS p.Ser119Phe Uncertain significance Single submitter
- APCS p.Ser91Thr Uncertain significance Single submitter
- APCS p.Thr53Ile Uncertain significance Single submitter
- APCS p.Tyr59His Uncertain significance Single submitter
- APCS p.Val111Leu Uncertain significance Single submitter
- APCS p.Val134Ala Uncertain significance Single submitter
- APCS p.Val144Leu Uncertain significance Single submitter
- APCS p.Val29Ile Uncertain significance Single submitter
- APCS p.Val35Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- APCS p.Arg64His Uncertain significance Single submitter
- APCS p.Asp203His Uncertain significance Single submitter
- APCS p.Glu118Lys Uncertain significance Single submitter
- APCS p.Ile113Asn Uncertain significance Single submitter
- APCS p.Ile94Leu Uncertain significance Single submitter
- APCS p.Leu41Trp Uncertain significance Single submitter
- APCS p.Pro48Thr Uncertain significance Single submitter
- APCS p.Tyr159Cys Uncertain significance Single submitter
- APCS p.Tyr59Cys Uncertain significance Single submitter
All APCS variants
Likely benign 5
- p.His97= Single submitter
- p.Ile128Val Single submitter
- p.Leu45= Single submitter
- p.Phe143Ser Single submitter
- p.Pro184Ser Single submitter
Uncertain significance 29
- p.Ala146Thr Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Arg64His Single submitter ⚠
- p.Arg86Gly Single submitter ⚠
- p.Asp203His Single submitter ⚠
- p.Gln74Glu Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Ile113Asn Single submitter ⚠
- p.Ile113Phe Single submitter ⚠
- p.Ile211Thr Single submitter ⚠
- p.Ile216Leu Single submitter ⚠
- p.Ile94Leu Single submitter ⚠
- p.Leu41Trp Single submitter ⚠
- p.Met178Thr Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Pro44Leu Single submitter ⚠
- p.Pro48Thr Single submitter ⚠
- p.Pro4Ala Single submitter ⚠
- p.Ser119Phe Single submitter ⚠
- p.Ser91Thr Single submitter ⚠
- p.Thr53Ile Single submitter ⚠
- p.Tyr159Cys Single submitter ⚠
- p.Tyr59Cys Single submitter ⚠
- p.Tyr59His Single submitter ⚠
- p.Val111Leu Single submitter ⚠
- p.Val134Ala Single submitter ⚠
- p.Val144Leu Single submitter ⚠
- p.Val29Ile Single submitter ⚠
- p.Val35Ala Single submitter ⚠