BARHL1 — 40 ClinVar variants
All ClinVar germline BARHL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
40 Uncertain significance
Full BARHL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BARHL1 p.Ala17Thr Uncertain significance Single submitter
- BARHL1 p.Ala276Val Uncertain significance Single submitter
- BARHL1 p.Ala85Val Uncertain significance Single submitter
- BARHL1 p.Arg174Leu Uncertain significance Single submitter
- BARHL1 p.Arg65Gln Uncertain significance Single submitter
- BARHL1 p.Asp142Gly Uncertain significance Single submitter
- BARHL1 p.Asp169His Uncertain significance Single submitter
- BARHL1 p.Asp219Asn Uncertain significance Single submitter
- BARHL1 p.Asp75Gly Uncertain significance Single submitter
- BARHL1 p.Cys48Tyr Uncertain significance Single submitter
- BARHL1 p.Gln192His Uncertain significance Single submitter
- BARHL1 p.Glu246Lys Uncertain significance Single submitter
- BARHL1 p.Gly118Ala Uncertain significance Single submitter
- BARHL1 p.Gly68Glu Uncertain significance Single submitter
- BARHL1 p.Ile298Met Uncertain significance Single submitter
- BARHL1 p.Pro107Ser Uncertain significance Single submitter
- BARHL1 p.Pro125Leu Uncertain significance Single submitter
- BARHL1 p.Pro23Ser Uncertain significance Single submitter
- BARHL1 p.Pro258Arg Uncertain significance Single submitter
- BARHL1 p.Ser167Phe Uncertain significance Single submitter
- BARHL1 p.Ser95Phe Uncertain significance Single submitter
- BARHL1 p.Thr63Pro Uncertain significance Single submitter
- BARHL1 p.Val205Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- BARHL1 p.Ala112Glu Uncertain significance Single submitter
- BARHL1 p.Ala130Val Uncertain significance Single submitter
- BARHL1 p.Ala213Thr Uncertain significance Single submitter
- BARHL1 p.Ala52Thr Uncertain significance Single submitter
- BARHL1 p.Arg281Cys Uncertain significance Single submitter
- BARHL1 p.Arg41His Uncertain significance Single submitter
- BARHL1 p.Gly274Arg Uncertain significance Single submitter
- BARHL1 p.Gly8Arg Uncertain significance Single submitter
- BARHL1 p.Ile298Asn Uncertain significance Single submitter
- BARHL1 p.Leu129His Uncertain significance Single submitter
- BARHL1 p.Pro310Leu Uncertain significance Single submitter
- BARHL1 p.Pro311Ala Uncertain significance Single submitter
- BARHL1 p.Pro315Ala Uncertain significance Single submitter
- BARHL1 p.Pro315Ser Uncertain significance Single submitter
- BARHL1 p.Pro315Thr Uncertain significance Single submitter
- BARHL1 p.Pro54Arg Uncertain significance Single submitter
- BARHL1 p.Ser150Leu Uncertain significance Single submitter
All BARHL1 variants
Uncertain significance 40
- p.Ala112Glu Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala276Val Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg174Leu Single submitter ⚠
- p.Arg281Cys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Asp142Gly Single submitter ⚠
- p.Asp169His Single submitter ⚠
- p.Asp219Asn Single submitter ⚠
- p.Asp75Gly Single submitter ⚠
- p.Cys48Tyr Single submitter ⚠
- p.Gln192His Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly68Glu Single submitter ⚠
- p.Gly8Arg Single submitter ⚠
- p.Ile298Asn Single submitter ⚠
- p.Ile298Met Single submitter ⚠
- p.Leu129His Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro125Leu Single submitter ⚠
- p.Pro23Ser Single submitter ⚠
- p.Pro258Arg Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro311Ala Single submitter ⚠
- p.Pro315Ala Single submitter ⚠
- p.Pro315Ser Single submitter ⚠
- p.Pro315Thr Single submitter ⚠
- p.Pro54Arg Single submitter ⚠
- p.Ser150Leu Single submitter ⚠
- p.Ser167Phe Single submitter ⚠
- p.Ser95Phe Single submitter ⚠
- p.Thr63Pro Single submitter ⚠
- p.Val205Met Single submitter ⚠