BEST3 — 92 ClinVar variants

All ClinVar germline BEST3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

2 Benign · 6 Likely benign · 84 Uncertain significance

Full BEST3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 57

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All BEST3 variants

Benign 2

p.Pro383Leu Multiple submitters
p.Val49= Multiple submitters

Likely benign 6

p.Gly533= Single submitter
p.His463Arg Single submitter
p.Ile273= Single submitter
p.Ile619Val Single submitter
p.Met546Val Single submitter
p.Ser548= Single submitter

Uncertain significance 84

p.Ala351Gly Single submitter ⚠
p.Arg141Ser Single submitter ⚠
p.Arg196Gln Single submitter ⚠
p.Arg196Trp Single submitter ⚠
p.Arg202Ile Single submitter ⚠
p.Arg216Gly Single submitter ⚠
p.Arg218Cys Single submitter ⚠
p.Arg25Thr Single submitter ⚠
p.Arg344His Single submitter ⚠
p.Arg388Trp Single submitter ⚠
p.Arg397Trp Single submitter ⚠
p.Arg410Lys Single submitter ⚠
p.Arg411Ser Single submitter ⚠
p.Arg426Gln Single submitter ⚠
p.Arg589Lys Single submitter ⚠
p.Arg60Cys Single submitter ⚠
p.Arg637Pro Single submitter ⚠
p.Asn314Tyr Single submitter ⚠
p.Asn605Lys Single submitter ⚠
p.Asp118Asn Single submitter ⚠
p.Asp155Glu Single submitter ⚠
p.Asp268Asn Single submitter ⚠
p.Asp340Asn Single submitter ⚠
p.Asp375Glu Single submitter ⚠
p.Asp521Glu Single submitter ⚠
p.Asp655Gly Single submitter ⚠
p.Gln535Pro Single submitter ⚠
p.Gln542Glu Single submitter ⚠
p.Glu119Gln Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu377Ala Single submitter ⚠
p.Glu377Gly Single submitter ⚠
p.Glu403Lys Single submitter ⚠
p.Glu622Lys Single submitter ⚠
p.Glu664Ala Single submitter ⚠
p.Gly299Val Single submitter ⚠
p.Gly516Trp Single submitter ⚠
p.His463Asp Single submitter ⚠
p.His463Tyr Single submitter ⚠
p.Ile28Val Single submitter ⚠
p.Ile37Val Single submitter ⚠
p.Ile526Thr Single submitter ⚠
p.Ile632Thr Single submitter ⚠
p.Ile656Thr Single submitter ⚠
p.Ile657Thr Single submitter ⚠
p.Leu100Phe Single submitter ⚠
p.Leu137Pro Single submitter ⚠
p.Leu174Phe Single submitter ⚠
p.Leu294Phe Single submitter ⚠
p.Leu315Ser Single submitter ⚠
p.Leu504Ser Single submitter ⚠
p.Leu618Ser Single submitter ⚠
p.Leu618Val Single submitter ⚠
p.Met129Val Single submitter ⚠
p.Met163Ile Single submitter ⚠
p.Met211Ile Single submitter ⚠
p.Met214Thr Single submitter ⚠
p.Phe17Tyr Single submitter ⚠
p.Pro443Ala Single submitter ⚠
p.Pro443Thr Single submitter ⚠
p.Pro501Ser Single submitter ⚠
p.Pro559Leu Single submitter ⚠
p.Pro582Ala Single submitter ⚠
p.Pro667Leu Single submitter ⚠
p.Ser369Pro Single submitter ⚠
p.Ser421Phe Single submitter ⚠
p.Ser459Asn Single submitter ⚠
p.Ser624Phe Single submitter ⚠
p.Ser6Phe Single submitter ⚠
p.Thr145Ala Single submitter ⚠
p.Thr153Ile Single submitter ⚠
p.Thr153Lys Single submitter ⚠
p.Thr165Pro Single submitter ⚠
p.Thr261Ile Single submitter ⚠
p.Thr363Ile Single submitter ⚠
p.Thr471Ile Single submitter ⚠
p.Thr566Pro Single submitter ⚠
p.Thr651Ile Single submitter ⚠
p.Tyr29Cys Single submitter ⚠
p.Tyr382Cys Single submitter ⚠
p.Tyr85Asn Single submitter ⚠
p.Tyr85Ser Single submitter ⚠
p.Val503Ile Single submitter ⚠
p.Val78Glu Single submitter ⚠