BNIP1 — 49 ClinVar variants
All ClinVar germline BNIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
49 Uncertain significance
Full BNIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BNIP1 p.Arg196His Uncertain significance Multiple submitters
- BNIP1 p.Arg223Gln Uncertain significance Single submitter
- BNIP1 p.Arg55His Uncertain significance Single submitter
- BNIP1 p.Asn91His Uncertain significance Single submitter
- BNIP1 p.Asp6Asn Uncertain significance Single submitter
- BNIP1 p.Gln14Pro Uncertain significance Single submitter
- BNIP1 p.Gln59Arg Uncertain significance Single submitter
- BNIP1 p.Glu158Asp Uncertain significance Single submitter
- BNIP1 p.Glu49Asp Uncertain significance Single submitter
- BNIP1 p.Glu80Asp Uncertain significance Single submitter
- BNIP1 p.Gly182Val Uncertain significance Single submitter
- BNIP1 p.Gly187Ser Uncertain significance Single submitter
- BNIP1 p.Ile16Thr Uncertain significance Single submitter
- BNIP1 p.Ile58Thr Uncertain significance Single submitter
- BNIP1 p.Leu120Arg Uncertain significance Single submitter
- BNIP1 p.Leu186Met Uncertain significance Single submitter
- BNIP1 p.Lys86Gln Uncertain significance Single submitter
- BNIP1 p.Met88Leu Uncertain significance Single submitter
- BNIP1 p.Pro4Ala Uncertain significance Single submitter
- BNIP1 p.Ser130Arg Uncertain significance Single submitter
- BNIP1 p.Ser136Asn Uncertain significance Single submitter
- BNIP1 p.Ser136Gly Uncertain significance Single submitter
- BNIP1 p.Thr200Arg Uncertain significance Single submitter
- BNIP1 p.Val153Ala Uncertain significance Single submitter
- BNIP1 p.Val7Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- BNIP1 p.Arg147Ser Uncertain significance Single submitter
- BNIP1 p.Arg188Gln Uncertain significance Single submitter
- BNIP1 p.Arg188Trp Uncertain significance Single submitter
- BNIP1 p.Arg31His Uncertain significance Single submitter
- BNIP1 p.Asn99Ser Uncertain significance Single submitter
- BNIP1 p.Asp6Gly Uncertain significance Single submitter
- BNIP1 p.Gln116His Uncertain significance Single submitter
- BNIP1 p.Gln154Lys Uncertain significance Single submitter
- BNIP1 p.Gln63Pro Uncertain significance Single submitter
- BNIP1 p.Glu157Lys Uncertain significance Single submitter
- BNIP1 p.Glu22Lys Uncertain significance Single submitter
- BNIP1 p.Ile106Val Uncertain significance Single submitter
- BNIP1 p.Phe206Leu Uncertain significance Single submitter
- BNIP1 p.Ser181Leu Uncertain significance Single submitter
- BNIP1 p.Trp95Cys Uncertain significance Single submitter
- BNIP1 p.Val9Ala Uncertain significance Single submitter
All BNIP1 variants
Uncertain significance 49
- p.Arg196His Multiple submitters ⚠
- c.178-2635C>T Single submitter
- c.178-2641C>T Single submitter
- c.178-2657A>G Single submitter
- c.178-2669C>A Single submitter
- c.178-2726A>T Single submitter
- c.178-2750C>T Single submitter
- c.178-2752T>C Single submitter
- c.84+3A>T Single submitter spondyloepiphyseal dysplasia congenita
- p.Arg147Ser Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg188Trp Single submitter ⚠
- p.Arg223Gln Single submitter ⚠
- p.Arg31His Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Asn91His Single submitter ⚠
- p.Asn99Ser Single submitter ⚠
- p.Asp6Asn Single submitter ⚠
- p.Asp6Gly Single submitter ⚠
- p.Gln116His Single submitter ⚠
- p.Gln14Pro Single submitter ⚠
- p.Gln154Lys Single submitter ⚠
- p.Gln59Arg Single submitter ⚠
- p.Gln63Pro Single submitter ⚠
- p.Glu157Lys Single submitter ⚠
- p.Glu158Asp Single submitter ⚠
- p.Glu22Lys Single submitter ⚠
- p.Glu49Asp Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Gly182Val Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Ile106Val Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile58Thr Single submitter ⚠
- p.Leu120Arg Single submitter ⚠
- p.Leu186Met Single submitter ⚠
- p.Lys86Gln Single submitter ⚠
- p.Met88Leu Single submitter ⚠
- p.Phe206Leu Single submitter ⚠
- p.Pro4Ala Single submitter ⚠
- p.Ser130Arg Single submitter ⚠
- p.Ser136Asn Single submitter ⚠
- p.Ser136Gly Single submitter ⚠
- p.Ser181Leu Single submitter ⚠
- p.Thr200Arg Single submitter ⚠
- p.Trp95Cys Single submitter ⚠
- p.Val153Ala Single submitter ⚠
- p.Val7Ala Single submitter ⚠
- p.Val9Ala Single submitter ⚠