BEST2 — 82 ClinVar variants
All ClinVar germline BEST2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
5 Likely benign · 77 Uncertain significance
Full BEST2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEST2 p.Ala105Val Uncertain significance Single submitter
- BEST2 p.Ala136Thr Uncertain significance Single submitter
- BEST2 p.Ala341Asp Uncertain significance Single submitter
- BEST2 p.Ala341Thr Uncertain significance Single submitter
- BEST2 p.Ala343Thr Uncertain significance Single submitter
- BEST2 p.Ala389Val Uncertain significance Single submitter
- BEST2 p.Ala431Val Uncertain significance Single submitter
- BEST2 p.Ala436Pro Uncertain significance Single submitter
- BEST2 p.Ala48Val Uncertain significance Single submitter
- BEST2 p.Ala509Thr Uncertain significance Single submitter
- BEST2 p.Arg125Gln Uncertain significance Single submitter
- BEST2 p.Arg218Gln Uncertain significance Single submitter
- BEST2 p.Arg255Cys Uncertain significance Single submitter
- BEST2 p.Arg25Cys Uncertain significance Single submitter
- BEST2 p.Arg344His Uncertain significance Single submitter
- BEST2 p.Arg413His Uncertain significance Single submitter
- BEST2 p.Asn11Lys Uncertain significance Single submitter
- BEST2 p.Asp270Glu Uncertain significance Single submitter
- BEST2 p.Cys435Ser Uncertain significance Single submitter
- BEST2 p.Gln280His Uncertain significance Single submitter
- BEST2 p.Glu198Gln Uncertain significance Single submitter
- BEST2 p.Glu333Gln Uncertain significance Single submitter
- BEST2 p.Gly381Ser Uncertain significance Single submitter
- BEST2 p.Gly384Glu Uncertain significance Single submitter
- BEST2 p.Gly387Arg Uncertain significance Single submitter
- BEST2 p.Gly449Glu Uncertain significance Single submitter
- BEST2 p.Gly491Arg Uncertain significance Single submitter
- BEST2 p.Gly491Ser Uncertain significance Single submitter
- BEST2 p.Gly57Ala Uncertain significance Single submitter
- BEST2 p.Ile139Ser Uncertain significance Single submitter
- BEST2 p.Ile230Thr Uncertain significance Single submitter
- BEST2 p.Leu123His Uncertain significance Single submitter
- BEST2 p.Leu418Pro Uncertain significance Single submitter
- BEST2 p.Pro233His Uncertain significance Single submitter
- BEST2 p.Pro385Leu Uncertain significance Single submitter
- BEST2 p.Pro385Ser Uncertain significance Single submitter
- BEST2 p.Pro409Ser Uncertain significance Single submitter
- BEST2 p.Pro455His Uncertain significance Single submitter
- BEST2 p.Pro494Thr Uncertain significance Single submitter
- BEST2 p.Pro498Leu Uncertain significance Single submitter
- BEST2 p.Ser482Gly Uncertain significance Single submitter
- BEST2 p.Thr113Ala Uncertain significance Single submitter
- BEST2 p.Thr237Ala Uncertain significance Single submitter
- BEST2 p.Thr429Asn Uncertain significance Single submitter
- BEST2 p.Tyr97His Uncertain significance Single submitter
- BEST2 p.Val137Gly Uncertain significance Single submitter
- BEST2 p.Val137Leu Uncertain significance Single submitter
- BEST2 p.Val143Ile Uncertain significance Single submitter
- BEST2 p.Val186Ile Uncertain significance Single submitter
- BEST2 p.Val240Met Uncertain significance Single submitter
- BEST2 p.Val9Leu Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- BEST2 p.Ala12Thr Uncertain significance Single submitter
- BEST2 p.Ala160Gly Uncertain significance Single submitter
- BEST2 p.Ala285Thr Uncertain significance Single submitter
- BEST2 p.Arg13His Uncertain significance Single submitter
- BEST2 p.Arg200Cys Uncertain significance Single submitter
- BEST2 p.Arg202Ser Uncertain significance Single submitter
- BEST2 p.Arg255His Uncertain significance Single submitter
- BEST2 p.Arg25His Uncertain significance Single submitter
- BEST2 p.Arg344Cys Uncertain significance Single submitter
- BEST2 p.Arg34Gln Uncertain significance Single submitter
- BEST2 p.Arg419Pro Uncertain significance Single submitter
- BEST2 p.Asp104Glu Uncertain significance Single submitter
- BEST2 p.Glu342Lys Uncertain significance Single submitter
- BEST2 p.Glu56Lys Uncertain significance Single submitter
- BEST2 p.Gly15Ser Uncertain significance Single submitter
- BEST2 p.Ile295Val Uncertain significance Single submitter
- BEST2 p.Met107Thr Uncertain significance Single submitter
- BEST2 p.Phe162Leu Uncertain significance Single submitter
- BEST2 p.Pro260Leu Uncertain significance Single submitter
- BEST2 p.Thr4Ala Uncertain significance Single submitter
- BEST2 p.Tyr72Cys Uncertain significance Single submitter
- BEST2 p.Val137Met Uncertain significance Single submitter
- BEST2 p.Val3Ile Uncertain significance Single submitter
-
BEST2 p.Leu128Phe
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All BEST2 variants
Likely benign 5
- p.Arg356Gln Single submitter
- p.Asp268Asn Single submitter
- p.Gly430Ala Single submitter
- p.Leu471Pro Single submitter
- p.Leu128Phe No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 77
- p.Ala105Val Single submitter ⚠
- p.Ala12Thr Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala160Gly Single submitter ⚠
- p.Ala285Thr Single submitter ⚠
- p.Ala341Asp Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala343Thr Single submitter ⚠
- p.Ala389Val Single submitter ⚠
- p.Ala431Val Single submitter ⚠
- p.Ala436Pro Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala509Thr Single submitter ⚠
- p.Arg120Ser Single submitter
- p.Arg125Gln Single submitter ⚠
- p.Arg13His Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg202Ser Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg255His Single submitter ⚠
- p.Arg25Cys Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg344Cys Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg419Pro Single submitter ⚠
- p.Asn11Lys Single submitter ⚠
- p.Asp104Glu Single submitter ⚠
- p.Asp270Glu Single submitter ⚠
- p.Cys435Ser Single submitter ⚠
- p.Gln280His Single submitter ⚠
- p.Glu198Gln Single submitter ⚠
- p.Glu333Gln Single submitter ⚠
- p.Glu342Lys Single submitter ⚠
- p.Glu56Lys Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly381Ser Single submitter ⚠
- p.Gly384Glu Single submitter ⚠
- p.Gly387Arg Single submitter ⚠
- p.Gly449Glu Single submitter ⚠
- p.Gly491Arg Single submitter ⚠
- p.Gly491Ser Single submitter ⚠
- p.Gly57Ala Single submitter ⚠
- p.Ile139Ser Single submitter ⚠
- p.Ile230Thr Single submitter ⚠
- p.Ile295Val Single submitter ⚠
- p.Leu123His Single submitter ⚠
- p.Leu418Pro Single submitter ⚠
- p.Lys420Asn Single submitter
- p.Met107Thr Single submitter ⚠
- p.Phe162Leu Single submitter ⚠
- p.Phe481Leu Single submitter
- p.Pro233His Single submitter ⚠
- p.Pro260Leu Single submitter ⚠
- p.Pro385Leu Single submitter ⚠
- p.Pro385Ser Single submitter ⚠
- p.Pro409Ser Single submitter ⚠
- p.Pro455His Single submitter ⚠
- p.Pro494Thr Single submitter ⚠
- p.Pro498Leu Single submitter ⚠
- p.Ser482Gly Single submitter ⚠
- p.Thr113Ala Single submitter ⚠
- p.Thr237Ala Single submitter ⚠
- p.Thr429Asn Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Tyr72Cys Single submitter ⚠
- p.Tyr97His Single submitter ⚠
- p.Val137Gly Single submitter ⚠
- p.Val137Leu Single submitter ⚠
- p.Val137Met Single submitter ⚠
- p.Val143Ile Single submitter ⚠
- p.Val186Ile Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val3Ile Single submitter ⚠
- p.Val9Leu Single submitter ⚠