BNIP3L — 17 ClinVar variants
All ClinVar germline BNIP3L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
1 Likely benign · 16 Uncertain significance
Full BNIP3L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BNIP3L p.Glu123Val Uncertain significance Single submitter
- BNIP3L p.Gly178Ala Uncertain significance Single submitter
- BNIP3L p.Met105Ile Uncertain significance Single submitter
- BNIP3L p.Met169Thr Uncertain significance Single submitter
- BNIP3L p.Met41Ile Uncertain significance Single submitter
- BNIP3L p.Pro28Leu Uncertain significance Single submitter
- BNIP3L p.Val60Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- BNIP3L p.Ala183Ser Uncertain significance Single submitter
- BNIP3L p.Arg163Cys Uncertain significance Single submitter
- BNIP3L p.Asn14Ser Uncertain significance Single submitter
- BNIP3L p.Glu58Ala Uncertain significance Single submitter
- BNIP3L p.Ile180Phe Uncertain significance Single submitter
- BNIP3L p.Ile205Val Uncertain significance Single submitter
- BNIP3L p.Pro40Ser Uncertain significance Single submitter
- BNIP3L p.Ser25Cys Uncertain significance Single submitter
- BNIP3L p.Val198Ala Uncertain significance Single submitter
All BNIP3L variants
Likely benign 1
- p.Ala138Val Single submitter
Uncertain significance 16
- p.Ala183Ser Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Asn14Ser Single submitter ⚠
- p.Glu123Val Single submitter ⚠
- p.Glu58Ala Single submitter ⚠
- p.Gly178Ala Single submitter ⚠
- p.Ile180Phe Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Met105Ile Single submitter ⚠
- p.Met169Thr Single submitter ⚠
- p.Met41Ile Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Ser25Cys Single submitter ⚠
- p.Val198Ala Single submitter ⚠
- p.Val60Ile Single submitter ⚠