BEST4 — 50 ClinVar variants
All ClinVar germline BEST4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Benign · 49 Uncertain significance
Full BEST4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEST4 p.Ala112Val Uncertain significance Single submitter
- BEST4 p.Ala368Asp Uncertain significance Single submitter
- BEST4 p.Ala44Thr Uncertain significance Single submitter
- BEST4 p.Ala464Val Uncertain significance Single submitter
- BEST4 p.Arg122Gly Uncertain significance Single submitter
- BEST4 p.Arg126Gly Uncertain significance Single submitter
- BEST4 p.Arg25Lys Uncertain significance Single submitter
- BEST4 p.Arg328His Uncertain significance Single submitter
- BEST4 p.Arg92Leu Uncertain significance Single submitter
- BEST4 p.Asp159Glu Uncertain significance Single submitter
- BEST4 p.Gln295Leu Uncertain significance Single submitter
- BEST4 p.Gln393Lys Uncertain significance Single submitter
- BEST4 p.Glu213Asp Uncertain significance Single submitter
- BEST4 p.Gly263Glu Uncertain significance Single submitter
- BEST4 p.Gly377Asp Uncertain significance Single submitter
- BEST4 p.Gly40Ala Uncertain significance Single submitter
- BEST4 p.Ile242Thr Uncertain significance Single submitter
- BEST4 p.Leu392Met Uncertain significance Single submitter
- BEST4 p.Pro284Thr Uncertain significance Single submitter
- BEST4 p.Pro361Ser Uncertain significance Single submitter
- BEST4 p.Pro405Thr Uncertain significance Single submitter
- BEST4 p.Pro440Ala Uncertain significance Single submitter
- BEST4 p.Pro453Leu Uncertain significance Single submitter
- BEST4 p.Ser142Leu Uncertain significance Single submitter
- BEST4 p.Val117Met Uncertain significance Single submitter
- BEST4 p.Val143Ala Uncertain significance Single submitter
- BEST4 p.Val235Leu Uncertain significance Single submitter
- BEST4 p.Val394Leu Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- BEST4 p.Ala195Gly Uncertain significance Single submitter
- BEST4 p.Ala249Ser Uncertain significance Single submitter
- BEST4 p.Ala265Thr Uncertain significance Single submitter
- BEST4 p.Arg13Cys Uncertain significance Single submitter
- BEST4 p.Arg23His Uncertain significance Single submitter
- BEST4 p.Arg255Cys Uncertain significance Single submitter
- BEST4 p.Arg414His Uncertain significance Single submitter
- BEST4 p.Asp387Asn Uncertain significance Single submitter
- BEST4 p.Asp452Asn Uncertain significance Single submitter
- BEST4 p.Glu469Lys Uncertain significance Single submitter
- BEST4 p.Leu128Val Uncertain significance Single submitter
- BEST4 p.Leu42Ser Uncertain significance Single submitter
- BEST4 p.Leu54Val Uncertain significance Single submitter
- BEST4 p.Lys34Gln Uncertain significance Single submitter
- BEST4 p.Lys34Glu Uncertain significance Single submitter
- BEST4 p.Phe297Leu Uncertain significance Single submitter
- BEST4 p.Phe375Leu Uncertain significance Single submitter
- BEST4 p.Pro345Leu Uncertain significance Single submitter
- BEST4 p.Pro361Leu Uncertain significance Single submitter
- BEST4 p.Pro423Ala Uncertain significance Single submitter
- BEST4 p.Val157Met Uncertain significance Single submitter
All BEST4 variants
Benign 1
- p.Thr55= Multiple submitters
Uncertain significance 49
- p.Ala112Val Single submitter ⚠
- p.Ala195Gly Single submitter ⚠
- p.Ala249Ser Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala368Asp Single submitter ⚠
- p.Ala44Thr Single submitter ⚠
- p.Ala464Val Single submitter ⚠
- p.Arg122Gly Single submitter ⚠
- p.Arg126Gly Single submitter ⚠
- p.Arg13Cys Single submitter ⚠
- p.Arg23His Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg25Lys Single submitter ⚠
- p.Arg328His Single submitter ⚠
- p.Arg414His Single submitter ⚠
- p.Arg92Leu Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Gln295Leu Single submitter ⚠
- p.Gln393Lys Single submitter ⚠
- p.Glu213Asp Single submitter ⚠
- p.Glu469Lys Single submitter ⚠
- p.Gly263Glu Single submitter ⚠
- p.Gly377Asp Single submitter ⚠
- p.Gly40Ala Single submitter ⚠
- p.Ile242Thr Single submitter ⚠
- p.Leu128Val Single submitter ⚠
- p.Leu392Met Single submitter ⚠
- p.Leu42Ser Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Lys34Gln Single submitter ⚠
- p.Lys34Glu Single submitter ⚠
- p.Phe297Leu Single submitter ⚠
- p.Phe375Leu Single submitter ⚠
- p.Pro284Thr Single submitter ⚠
- p.Pro345Leu Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro361Ser Single submitter ⚠
- p.Pro405Thr Single submitter ⚠
- p.Pro423Ala Single submitter ⚠
- p.Pro440Ala Single submitter ⚠
- p.Pro453Leu Single submitter ⚠
- p.Ser142Leu Single submitter ⚠
- p.Val117Met Single submitter ⚠
- p.Val143Ala Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val235Leu Single submitter ⚠
- p.Val394Leu Single submitter ⚠