SARAF — 44 ClinVar variants
All ClinVar germline SARAF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely benign · 43 Uncertain significance
Full SARAF 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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SARAF p.Ala168Val Uncertain significance Single submitter
- SARAF p.Ala242Thr Uncertain significance Single submitter
- SARAF p.Ala282Val Uncertain significance Single submitter
- SARAF p.Ala283Thr Uncertain significance Single submitter
- SARAF p.Arg213Cys Uncertain significance Single submitter
- SARAF p.Arg339Gln Uncertain significance Single submitter
- SARAF p.Arg40Pro Uncertain significance Single submitter
- SARAF p.Arg51His Uncertain significance Single submitter
- SARAF p.Asn322Asp Uncertain significance Single submitter
- SARAF p.Gln198Arg Uncertain significance Single submitter
- SARAF p.Gln63Arg Uncertain significance Single submitter
- SARAF p.Glu118Lys Uncertain significance Single submitter
- SARAF p.Glu133Gly Uncertain significance Single submitter
- SARAF p.Gly142Asp Uncertain significance Single submitter
- SARAF p.Gly197Arg Uncertain significance Single submitter
- SARAF p.Gly313Ser Uncertain significance Single submitter
- SARAF p.His153Gln Uncertain significance Single submitter
- SARAF p.His153Tyr Uncertain significance Single submitter
- SARAF p.Leu141Phe Uncertain significance Single submitter
- SARAF p.Lys65Glu Uncertain significance Single submitter
- SARAF p.Pro201Ser Uncertain significance Single submitter
- SARAF p.Pro309His Uncertain significance Single submitter
- SARAF p.Ser120Phe Uncertain significance Single submitter
- SARAF p.Ser167Leu Uncertain significance Single submitter
- SARAF p.Ser205Ala Uncertain significance Single submitter
- SARAF p.Ser294Phe Uncertain significance Single submitter
- SARAF p.Ser75Phe Uncertain significance Single submitter
- SARAF p.Thr243Pro Uncertain significance Single submitter
- SARAF p.Thr251Arg Uncertain significance Single submitter
- SARAF p.Tyr207His Uncertain significance Single submitter
- SARAF p.Tyr256Cys Uncertain significance Single submitter
- SARAF p.Tyr275Cys Uncertain significance Single submitter
- SARAF p.Tyr295Cys Uncertain significance Single submitter
- SARAF p.Tyr52Asn Uncertain significance Single submitter
- SARAF p.Val180Met Uncertain significance Single submitter
- SARAF p.Val188Ile Uncertain significance Single submitter
- SARAF p.Val67Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SARAF variants
Likely benign 1
- p.Val42Ile Single submitter
Uncertain significance 43
- p.Ala168Val Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala283Thr Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg40Pro Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Asn322Asp Single submitter ⚠
- p.Gln198Arg Single submitter ⚠
- p.Gln63Arg Single submitter ⚠
- p.Gln63Glu Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu133Gly Single submitter ⚠
- p.Gly142Asp Single submitter ⚠
- p.Gly197Arg Single submitter ⚠
- p.Gly313Ser Single submitter ⚠
- p.His153Gln Single submitter ⚠
- p.His153Tyr Single submitter ⚠
- p.Leu141Phe Single submitter ⚠
- p.Lys65Asn Single submitter
- p.Lys65Glu Single submitter ⚠
- p.Met37Arg Single submitter ⚠
- p.Pro201Ser Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro309His Single submitter ⚠
- p.Ser120Phe Single submitter ⚠
- p.Ser167Leu Single submitter ⚠
- p.Ser205Ala Single submitter ⚠
- p.Ser294Phe Single submitter ⚠
- p.Ser318Leu Single submitter ⚠
- p.Ser75Phe Single submitter ⚠
- p.Thr243Pro Single submitter ⚠
- p.Thr251Arg Single submitter ⚠
- p.Thr251Ile Single submitter ⚠
- p.Tyr207His Single submitter ⚠
- p.Tyr256Cys Single submitter ⚠
- p.Tyr275Cys Single submitter ⚠
- p.Tyr295Cys Single submitter ⚠
- p.Tyr52Asn Single submitter ⚠
- p.Val180Met Single submitter ⚠
- p.Val188Ile Single submitter ⚠
- p.Val67Ile Single submitter ⚠