SSB — 44 ClinVar variants
All ClinVar germline SSB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Benign · 1 Likely benign · 42 Uncertain significance
Full SSB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SSB p.Ala12Val Uncertain significance Single submitter
- SSB p.Ala221Gly Uncertain significance Single submitter
- SSB p.Ala289Thr Uncertain significance Single submitter
- SSB p.Ala405Pro Uncertain significance Single submitter
- SSB p.Arg111Lys Uncertain significance Single submitter
- SSB p.Arg334Gly Uncertain significance Single submitter
- SSB p.Arg334Leu Uncertain significance Single submitter
- SSB p.Arg60His Uncertain significance Single submitter
- SSB p.Asp220Ala Uncertain significance Single submitter
- SSB p.Asp368Gly Uncertain significance Single submitter
- SSB p.Asp43His Uncertain significance Single submitter
- SSB p.Glu218Asp Uncertain significance Single submitter
- SSB p.Glu219Asp Uncertain significance Single submitter
- SSB p.Glu228Asp Uncertain significance Single submitter
- SSB p.Glu228Gly Uncertain significance Single submitter
- SSB p.Glu372Gln Uncertain significance Single submitter
- SSB p.Glu387Gln Uncertain significance Single submitter
- SSB p.Gly349Arg Uncertain significance Single submitter
- SSB p.His147Tyr Uncertain significance Single submitter
- SSB p.His370Asn Uncertain significance Single submitter
- SSB p.Ile115Val Uncertain significance Single submitter
- SSB p.Ile127Leu Uncertain significance Single submitter
- SSB p.Leu274Val Uncertain significance Single submitter
- SSB p.Pro96His Uncertain significance Single submitter
- SSB p.Thr362Lys Uncertain significance Single submitter
- SSB p.Thr362Met Uncertain significance Single submitter
- SSB p.Tyr114Phe Uncertain significance Single submitter
- SSB p.Val201Leu Uncertain significance Single submitter
- SSB p.Val265Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- SSB p.Ala122Glu Uncertain significance Single submitter
- SSB p.Arg334Cys Uncertain significance Single submitter
- SSB p.Asp121Ala Uncertain significance Single submitter
- SSB p.Asp121Gly Uncertain significance Single submitter
- SSB p.Asp125Asn Uncertain significance Single submitter
- SSB p.Asp187Asn Uncertain significance Single submitter
- SSB p.Gln39Arg Uncertain significance Single submitter
- SSB p.Ile154Thr Uncertain significance Single submitter
- SSB p.Met80Ile Uncertain significance Single submitter
- SSB p.Met80Thr Uncertain significance Single submitter
- SSB p.Phe357Leu Uncertain significance Single submitter
- SSB p.Ser237Leu Uncertain significance Single submitter
- SSB p.Ser94Cys Uncertain significance Single submitter
All SSB variants
Benign 1
- p.Asn4= Single submitter
Likely benign 1
- p.370HDE[1] Single submitter
Uncertain significance 42
- p.Ala122Glu Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala221Gly Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala405Pro Single submitter ⚠
- p.Arg111Lys Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg334Leu Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Asp121Ala Single submitter ⚠
- p.Asp121Gly Single submitter ⚠
- p.Asp125Asn Single submitter ⚠
- p.Asp187Asn Single submitter ⚠
- p.Asp220Ala Single submitter ⚠
- p.Asp368Gly Single submitter ⚠
- p.Asp43His Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Glu218Asp Single submitter ⚠
- p.Glu219Asp Single submitter ⚠
- p.Glu228Asp Single submitter ⚠
- p.Glu228Gly Single submitter ⚠
- p.Glu372Gln Single submitter ⚠
- p.Glu387Gln Single submitter ⚠
- p.Gly349Arg Single submitter ⚠
- p.His147Tyr Single submitter ⚠
- p.His370Asn Single submitter ⚠
- p.Ile115Val Single submitter ⚠
- p.Ile127Leu Single submitter ⚠
- p.Ile154Thr Single submitter ⚠
- p.Leu274Val Single submitter ⚠
- p.Met80Ile Single submitter ⚠
- p.Met80Thr Single submitter ⚠
- p.Phe357Leu Single submitter ⚠
- p.Pro96His Single submitter ⚠
- p.Ser237Leu Single submitter ⚠
- p.Ser94Cys Single submitter ⚠
- p.Thr362Lys Single submitter ⚠
- p.Thr362Met Single submitter ⚠
- p.Tyr114Phe Single submitter ⚠
- p.Val201Leu Single submitter ⚠
- p.Val265Ile Single submitter ⚠