PPIL4 — 49 ClinVar variants
All ClinVar germline PPIL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Likely benign · 47 Uncertain significance
Full PPIL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPIL4 p.Ala297Thr Uncertain significance Single submitter
- PPIL4 p.Arg437Gln Uncertain significance Single submitter
- PPIL4 p.Arg61Cys Uncertain significance Single submitter
- PPIL4 p.Asn240Tyr Uncertain significance Single submitter
- PPIL4 p.Asn38Asp Uncertain significance Single submitter
- PPIL4 p.Asn408Asp Uncertain significance Single submitter
- PPIL4 p.Asn44Ser Uncertain significance Single submitter
- PPIL4 p.Asp147Glu Uncertain significance Single submitter
- PPIL4 p.Asp232His Uncertain significance Single submitter
- PPIL4 p.Asp364Asn Uncertain significance Single submitter
- PPIL4 p.Asp464Glu Uncertain significance Single submitter
- PPIL4 p.Cys25Ser Uncertain significance Single submitter
- PPIL4 p.Gln430Leu Uncertain significance Single submitter
- PPIL4 p.Gln52Glu Uncertain significance Single submitter
- PPIL4 p.Glu180Gln Uncertain significance Single submitter
- PPIL4 p.Glu369Ala Uncertain significance Single submitter
- PPIL4 p.Glu372Lys Uncertain significance Single submitter
- PPIL4 p.Glu422Asp Uncertain significance Single submitter
- PPIL4 p.Gly329Glu Uncertain significance Single submitter
- PPIL4 p.His385Tyr Uncertain significance Single submitter
- PPIL4 p.His391Tyr Uncertain significance Single submitter
- PPIL4 p.His452Arg Uncertain significance Single submitter
- PPIL4 p.Ile366Thr Uncertain significance Single submitter
- PPIL4 p.Leu247Met Uncertain significance Single submitter
- PPIL4 p.Lys138Glu Uncertain significance Single submitter
- PPIL4 p.Lys146Glu Uncertain significance Single submitter
- PPIL4 p.Lys337Glu Uncertain significance Single submitter
- PPIL4 p.Lys386Arg Uncertain significance Single submitter
- PPIL4 p.Lys482Asn Uncertain significance Single submitter
- PPIL4 p.Met415Lys Uncertain significance Single submitter
- PPIL4 p.Ser101Asn Uncertain significance Single submitter
- PPIL4 p.Ser101Gly Uncertain significance Single submitter
- PPIL4 p.Ser446Thr Uncertain significance Single submitter
- PPIL4 p.Ser454Gly Uncertain significance Single submitter
- PPIL4 p.Thr124Lys Uncertain significance Single submitter
- PPIL4 p.Thr159Met Uncertain significance Single submitter
- PPIL4 p.Thr277Ile Uncertain significance Single submitter
- PPIL4 p.Val271Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PPIL4 p.Arg445Gln Uncertain significance Single submitter
- PPIL4 p.Arg476Gln Uncertain significance Single submitter
- PPIL4 p.Arg476Pro Uncertain significance Single submitter
- PPIL4 p.Ile258Val Uncertain significance Single submitter
- PPIL4 p.Lys30Asn Uncertain significance Single submitter
- PPIL4 p.Thr142Asn Uncertain significance Single submitter
- PPIL4 p.Val208Glu Uncertain significance Single submitter
- PPIL4 p.Val322Ala Uncertain significance Single submitter
All PPIL4 variants
Likely benign 2
- p.His390Arg Single submitter
- p.Ser377Gly Single submitter
Uncertain significance 47
- p.Ala297Thr Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg445Gln Single submitter ⚠
- p.Arg476Gln Single submitter ⚠
- p.Arg476Pro Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Asn240Tyr Single submitter ⚠
- p.Asn38Asp Single submitter ⚠
- p.Asn408Asp Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asp147Glu Single submitter ⚠
- p.Asp232His Single submitter ⚠
- p.Asp364Asn Single submitter ⚠
- p.Asp464Glu Single submitter ⚠
- p.Cys25Ser Single submitter ⚠
- p.Gln430Leu Single submitter ⚠
- p.Gln52Glu Single submitter ⚠
- p.Glu180Gln Single submitter ⚠
- p.Glu369Ala Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu422Asp Single submitter ⚠
- p.Gly329Glu Single submitter ⚠
- p.His385Tyr Single submitter ⚠
- p.His391Tyr Single submitter ⚠
- p.His452Arg Single submitter ⚠
- p.Ile258Val Single submitter ⚠
- p.Ile366Thr Single submitter ⚠
- p.Leu247Met Single submitter ⚠
- p.Lys138Glu Single submitter ⚠
- p.Lys146Glu Single submitter ⚠
- p.Lys30Asn Single submitter ⚠
- p.Lys337Glu Single submitter ⚠
- p.Lys386Arg Single submitter ⚠
- p.Lys482Asn Single submitter ⚠
- p.Met415Lys Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Ser101Gly Single submitter ⚠
- p.Ser446Thr Single submitter ⚠
- p.Ser454Gly Single submitter ⚠
- p.Thr124Lys Single submitter ⚠
- p.Thr124Met Single submitter
- p.Thr142Asn Single submitter ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr277Ile Single submitter ⚠
- p.Val208Glu Single submitter ⚠
- p.Val271Ile Single submitter ⚠
- p.Val322Ala Single submitter ⚠