BORCS6 — 52 ClinVar variants
All ClinVar germline BORCS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
3 Likely benign · 49 Uncertain significance
Full BORCS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BORCS6 p.Ala244Glu Uncertain significance Single submitter
- BORCS6 p.Ala244Gly Uncertain significance Single submitter
- BORCS6 p.Ala285Val Uncertain significance Single submitter
- BORCS6 p.Ala339Ser Uncertain significance Single submitter
- BORCS6 p.Ala91Pro Uncertain significance Single submitter
- BORCS6 p.Arg109Trp Uncertain significance Single submitter
- BORCS6 p.Arg269Trp Uncertain significance Single submitter
- BORCS6 p.Arg274Gln Uncertain significance Single submitter
- BORCS6 p.Arg41Gln Uncertain significance Single submitter
- BORCS6 p.Arg75Trp Uncertain significance Single submitter
- BORCS6 p.Asn145Lys Uncertain significance Single submitter
- BORCS6 p.Asn50Lys Uncertain significance Single submitter
- BORCS6 p.Asn55Lys Uncertain significance Single submitter
- BORCS6 p.Asp13Gly Uncertain significance Single submitter
- BORCS6 p.Asp144Asn Uncertain significance Single submitter
- BORCS6 p.Asp144Glu Uncertain significance Single submitter
- BORCS6 p.Gln21Glu Uncertain significance Single submitter
- BORCS6 p.Gln85Pro Uncertain significance Single submitter
- BORCS6 p.Glu101Val Uncertain significance Single submitter
- BORCS6 p.Glu148Asp Uncertain significance Single submitter
- BORCS6 p.Glu19Lys Uncertain significance Single submitter
- BORCS6 p.Glu81Asp Uncertain significance Single submitter
- BORCS6 p.Gly129Arg Uncertain significance Single submitter
- BORCS6 p.Gly156Cys Uncertain significance Single submitter
- BORCS6 p.Gly44Trp Uncertain significance Single submitter
- BORCS6 p.Gly83Asp Uncertain significance Single submitter
- BORCS6 p.Ile256Val Uncertain significance Single submitter
- BORCS6 p.Lys111Gln Uncertain significance Single submitter
- BORCS6 p.Met135Val Uncertain significance Single submitter
- BORCS6 p.Met318Lys Uncertain significance Single submitter
- BORCS6 p.Pro115Leu Uncertain significance Single submitter
- BORCS6 p.Pro249Ser Uncertain significance Single submitter
- BORCS6 p.Pro251Ala Uncertain significance Single submitter
- BORCS6 p.Pro82Ala Uncertain significance Single submitter
- BORCS6 p.Pro84Ser Uncertain significance Single submitter
- BORCS6 p.Ser107Phe Uncertain significance Single submitter
- BORCS6 p.Ser158Ala Uncertain significance Single submitter
- BORCS6 p.Ser158Leu Uncertain significance Single submitter
- BORCS6 p.Thr48Asn Uncertain significance Single submitter
- BORCS6 p.Val137Ile Uncertain significance Single submitter
- BORCS6 p.Val17Ile Uncertain significance Single submitter
-
BORCS6 p.Arg109Pro
Uncertain significance
No assertion criteria
Fraser syndrome 3
Predictors split 5
The independent predictors disagree with each other — read with care.
All BORCS6 variants
Likely benign 3
- p.Ala114Glu Single submitter
- p.Glu103Asp Single submitter
- p.Gly68Ser Single submitter
Uncertain significance 49
- p.Ala244Glu Single submitter ⚠
- p.Ala244Gly Single submitter ⚠
- p.Ala285Val Single submitter ⚠
- p.Ala339Ser Single submitter ⚠
- p.Ala91Pro Single submitter ⚠
- p.Arg109Trp Single submitter ⚠
- p.Arg269Trp Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg41Gln Single submitter ⚠
- p.Arg75Trp Single submitter ⚠
- p.Asn145Lys Single submitter ⚠
- p.Asn50Lys Single submitter ⚠
- p.Asn55Lys Single submitter ⚠
- p.Asp13Gly Single submitter ⚠
- p.Asp144Asn Single submitter ⚠
- p.Asp144Glu Single submitter ⚠
- p.Gln21Glu Single submitter ⚠
- p.Gln85Pro Single submitter ⚠
- p.Glu101Val Single submitter ⚠
- p.Glu148Asp Single submitter ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu327Asp Single submitter ⚠
- p.Glu81Asp Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly156Cys Single submitter ⚠
- p.Gly44Trp Single submitter ⚠
- p.Gly83Asp Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile256Leu Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile297Val Single submitter ⚠
- p.Leu292Val Single submitter
- p.Lys111Gln Single submitter ⚠
- p.Met135Val Single submitter ⚠
- p.Met318Lys Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro251Ala Single submitter ⚠
- p.Pro254Ala Single submitter ⚠
- p.Pro255Gln Single submitter
- p.Pro82Ala Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Ser107Phe Single submitter ⚠
- p.Ser158Ala Single submitter ⚠
- p.Ser158Leu Single submitter ⚠
- p.Thr48Asn Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val17Ile Single submitter ⚠
- p.Arg109Pro No assertion criteria Fraser syndrome 3 ⚠