BYSL — 72 ClinVar variants
All ClinVar germline BYSL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
1 Benign · 6 Likely benign · 65 Uncertain significance
Full BYSL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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.
- BYSL p.Ala279Pro Uncertain significance Single submitter
- BYSL p.Ala28Glu Uncertain significance Single submitter
- BYSL p.Arg196Cys Uncertain significance Single submitter
- BYSL p.Arg196His Uncertain significance Single submitter
- BYSL p.Arg196Leu Uncertain significance Single submitter
- BYSL p.Arg355Trp Uncertain significance Single submitter
- BYSL p.Arg418Ser Uncertain significance Single submitter
- BYSL p.Arg427Cys Uncertain significance Single submitter
- BYSL p.Arg427His Uncertain significance Single submitter
- BYSL p.Arg92Ser Uncertain significance Single submitter
- BYSL p.Asn338Tyr Uncertain significance Single submitter
- BYSL p.Asp392Asn Uncertain significance Single submitter
- BYSL p.Asp431Asn Uncertain significance Single submitter
- BYSL p.Gln22Glu Uncertain significance Single submitter
- BYSL p.Glu163Asp Uncertain significance Single submitter
- BYSL p.Gly32Arg Uncertain significance Single submitter
- BYSL p.Gly97Glu Uncertain significance Single submitter
- BYSL p.Gly9Arg Uncertain significance Single submitter
- BYSL p.Ile236Phe Uncertain significance Single submitter
- BYSL p.Leu210Phe Uncertain significance Single submitter
- BYSL p.Leu302Phe Uncertain significance Single submitter
- BYSL p.Leu360Val Uncertain significance Single submitter
- BYSL p.Lys15Arg Uncertain significance Single submitter
- BYSL p.Lys277Glu Uncertain significance Single submitter
- BYSL p.Lys390Asn Uncertain significance Single submitter
- BYSL p.Met137Lys Uncertain significance Single submitter
- BYSL p.Met174Val Uncertain significance Single submitter
- BYSL p.Met245Thr Uncertain significance Single submitter
- BYSL p.Met326Thr Uncertain significance Single submitter
- BYSL p.Met332Ile Uncertain significance Single submitter
- BYSL p.Phe367Leu Uncertain significance Single submitter
- BYSL p.Pro127Ala Uncertain significance Single submitter
- BYSL p.Ser193Pro Uncertain significance Single submitter
- BYSL p.Ser423Ile Uncertain significance Single submitter
- BYSL p.Trp213Cys Uncertain significance Single submitter
- BYSL p.Tyr273Cys Uncertain significance Single submitter
- BYSL p.Val162Ile Uncertain significance Single submitter
- BYSL p.Val429Met Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- BYSL p.Ala71Gly Uncertain significance Single submitter
- BYSL p.Arg131His Uncertain significance Single submitter
- BYSL p.Arg145His Uncertain significance Single submitter
- BYSL p.Arg189Gln Uncertain significance Single submitter
- BYSL p.Arg189Leu Uncertain significance Single submitter
- BYSL p.Arg244His Uncertain significance Single submitter
- BYSL p.Arg267Gln Uncertain significance Single submitter
- BYSL p.Arg34Trp Uncertain significance Single submitter
- BYSL p.Arg406Gln Uncertain significance Single submitter
- BYSL p.Arg406Trp Uncertain significance Single submitter
- BYSL p.Arg419His Uncertain significance Single submitter
- BYSL p.Arg53Trp Uncertain significance Single submitter
- BYSL p.Arg63Trp Uncertain significance Single submitter
- BYSL p.Arg8His Uncertain significance Single submitter
- BYSL p.Asn212Ser Uncertain significance Single submitter
- BYSL p.Glu153Gln Uncertain significance Single submitter
- BYSL p.Glu46Lys Uncertain significance Single submitter
- BYSL p.Glu70Gln Uncertain significance Single submitter
- BYSL p.Ile307Val Uncertain significance Single submitter
- BYSL p.Leu401Phe Uncertain significance Single submitter
- BYSL p.Leu402Val Uncertain significance Single submitter
- BYSL p.Met152Val Uncertain significance Single submitter
- BYSL p.Pro426Leu Uncertain significance Single submitter
- BYSL p.Pro82Ser Likely benign Single submitter
- BYSL p.Thr87Met Uncertain significance Single submitter
- BYSL p.Tyr218Cys Uncertain significance Single submitter
- BYSL p.Val188Ile Uncertain significance Single submitter
- BYSL p.Val33Phe Uncertain significance Single submitter
All BYSL variants
Benign 1
- p.Ala117Val Single submitter
Likely benign 6
- p.Arg92Gly Single submitter
- p.Ile434Val Single submitter
- p.Pro415= Single submitter
- p.Pro82Ser Single submitter ⚠
- p.Val262Ile Single submitter
- p.Val436Met Single submitter
Uncertain significance 65
- p.Ala279Pro Single submitter ⚠
- p.Ala28Glu Single submitter ⚠
- p.Ala71Gly Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg189Gln Single submitter ⚠
- p.Arg189Leu Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg196Leu Single submitter ⚠
- p.Arg244His Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg34Trp Single submitter ⚠
- p.Arg355Trp Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg406Trp Single submitter ⚠
- p.Arg418Ser Single submitter ⚠
- p.Arg419His Single submitter ⚠
- p.Arg427Cys Single submitter ⚠
- p.Arg427His Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Arg92Ser Single submitter ⚠
- p.Asn212Ser Single submitter ⚠
- p.Asn338Tyr Single submitter ⚠
- p.Asp392Asn Single submitter ⚠
- p.Asp431Asn Single submitter ⚠
- p.Gln22Glu Single submitter ⚠
- p.Glu153Gln Single submitter ⚠
- p.Glu163Asp Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu70Gln Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly97Glu Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.Ile236Phe Single submitter ⚠
- p.Ile307Val Single submitter ⚠
- p.Leu210Phe Single submitter ⚠
- p.Leu302Phe Single submitter ⚠
- p.Leu360Val Single submitter ⚠
- p.Leu401Phe Single submitter ⚠
- p.Leu402Val Single submitter ⚠
- p.Lys15Arg Single submitter ⚠
- p.Lys277Glu Single submitter ⚠
- p.Lys390Asn Single submitter ⚠
- p.Met137Lys Single submitter ⚠
- p.Met152Val Single submitter ⚠
- p.Met174Val Single submitter ⚠
- p.Met245Thr Single submitter ⚠
- p.Met326Thr Single submitter ⚠
- p.Met332Ile Single submitter ⚠
- p.Phe367Leu Single submitter ⚠
- p.Pro127Ala Single submitter ⚠
- p.Pro426Leu Single submitter ⚠
- p.Ser193Pro Single submitter ⚠
- p.Ser423Ile Single submitter ⚠
- p.Thr87Met Single submitter ⚠
- p.Trp213Cys Single submitter ⚠
- p.Tyr218Cys Single submitter ⚠
- p.Tyr273Cys Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val188Ile Single submitter ⚠
- p.Val33Phe Single submitter ⚠
- p.Val429Met Single submitter ⚠