BTNL3 — 74 ClinVar variants
All ClinVar germline BTNL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
3 Benign · 1 Benign/Likely benign · 7 Likely benign · 63 Uncertain significance
Full BTNL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTNL3 p.Ala267Thr Uncertain significance Single submitter
- BTNL3 p.Arg284Gln Uncertain significance Single submitter
- BTNL3 p.Arg327Lys Uncertain significance Single submitter
- BTNL3 p.Arg406Gln Uncertain significance Single submitter
- BTNL3 p.Arg54Pro Uncertain significance Single submitter
- BTNL3 p.Asp178Gly Uncertain significance Single submitter
- BTNL3 p.Asp346Glu Uncertain significance Single submitter
- BTNL3 p.Cys206Arg Uncertain significance Single submitter
- BTNL3 p.Cys461Arg Uncertain significance Single submitter
- BTNL3 p.Gln171Lys Uncertain significance Single submitter
- BTNL3 p.Gln18Arg Uncertain significance Single submitter
- BTNL3 p.Gln436His Uncertain significance Single submitter
- BTNL3 p.Gln446His Uncertain significance Single submitter
- BTNL3 p.Glu124Ala Uncertain significance Single submitter
- BTNL3 p.Glu414Asp Uncertain significance Single submitter
- BTNL3 p.Gly408Glu Uncertain significance Single submitter
- BTNL3 p.His311Asp Uncertain significance Single submitter
- BTNL3 p.His311Gln Uncertain significance Single submitter
- BTNL3 p.Ile196Thr Uncertain significance Single submitter
- BTNL3 p.Ile238Val Uncertain significance Single submitter
- BTNL3 p.Lys264Ile Uncertain significance Single submitter
- BTNL3 p.Lys366Arg Uncertain significance Single submitter
- BTNL3 p.Met252Ile Uncertain significance Single submitter
- BTNL3 p.Phe395Cys Uncertain significance Single submitter
- BTNL3 p.Pro106Ser Uncertain significance Single submitter
- BTNL3 p.Pro24Gln Uncertain significance Single submitter
- BTNL3 p.Pro400Ala Uncertain significance Single submitter
- BTNL3 p.Pro400Ser Uncertain significance Single submitter
- BTNL3 p.Pro400Thr Uncertain significance Single submitter
- BTNL3 p.Pro403Leu Uncertain significance Single submitter
- BTNL3 p.Pro462Ser Uncertain significance Single submitter
- BTNL3 p.Ser41Phe Uncertain significance Single submitter
- BTNL3 p.Ser98Phe Uncertain significance Single submitter
- BTNL3 p.Thr326Ile Uncertain significance Single submitter
- BTNL3 p.Thr326Lys Uncertain significance Single submitter
- BTNL3 p.Thr384Arg Uncertain significance Single submitter
- BTNL3 p.Thr46Ile Uncertain significance Single submitter
- BTNL3 p.Trp73Arg Uncertain significance Single submitter
- BTNL3 p.Tyr112His Uncertain significance Single submitter
- BTNL3 p.Tyr450Cys Uncertain significance Single submitter
- BTNL3 p.Tyr450His Uncertain significance Single submitter
- BTNL3 p.Val131Leu Uncertain significance Single submitter
- BTNL3 p.Val303Ile Uncertain significance Single submitter
- BTNL3 p.Val351Ala Uncertain significance Single submitter
- BTNL3 p.Val37Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- BTNL3 p.Arg234Cys Uncertain significance Single submitter
- BTNL3 p.Arg359Trp Uncertain significance Single submitter
- BTNL3 p.Arg364Ser Uncertain significance Single submitter
- BTNL3 p.Arg54Gln Uncertain significance Single submitter
- BTNL3 p.Arg54Trp Uncertain significance Single submitter
- BTNL3 p.Arg82Gly Uncertain significance Single submitter
- BTNL3 p.Gly253Glu Uncertain significance Single submitter
- BTNL3 p.Gly408Ala Uncertain significance Single submitter
- BTNL3 p.Gly439Val Uncertain significance Single submitter
- BTNL3 p.Gly95Ala Uncertain significance Single submitter
- BTNL3 p.Leu380Phe Likely benign Single submitter
- BTNL3 p.Pro232Ala Uncertain significance Single submitter
- BTNL3 p.Pro299Leu Uncertain significance Single submitter
- BTNL3 p.Pro462Ala Uncertain significance Single submitter
- BTNL3 p.Ser427Phe Uncertain significance Single submitter
- BTNL3 p.Thr296Met Uncertain significance Single submitter
- BTNL3 p.Tyr189Cys Uncertain significance Single submitter
- BTNL3 p.Val303Asp Uncertain significance Single submitter
- BTNL3 p.Val347Met Uncertain significance Single submitter
All BTNL3 variants
Benign 3
- p.Ile142= Single submitter
- p.Phe11Leu Single submitter
- p.Ser203Thr Single submitter
Benign/Likely benign 1
- p.Arg130Trp Multiple submitters
Likely benign 7
- p.Ala448Val Single submitter
- p.Arg130Gln Single submitter
- p.Arg359Gln Single submitter
- p.Asp282fs Single submitter
- p.Leu380Phe Single submitter ⚠
- p.Ser107Leu Single submitter
- p.Tyr430Cys Single submitter
Uncertain significance 63
- p.Ala267Thr Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg284Gln Single submitter ⚠
- p.Arg327Lys Single submitter ⚠
- p.Arg359Trp Single submitter ⚠
- p.Arg364Ser Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg54Gln Single submitter ⚠
- p.Arg54Pro Single submitter ⚠
- p.Arg54Trp Single submitter ⚠
- p.Arg82Gly Single submitter ⚠
- p.Asp178Gly Single submitter ⚠
- p.Asp346Glu Single submitter ⚠
- p.Cys206Arg Single submitter ⚠
- p.Cys461Arg Single submitter ⚠
- p.Gln171Lys Single submitter ⚠
- p.Gln18Arg Single submitter ⚠
- p.Gln436His Single submitter ⚠
- p.Gln446His Single submitter ⚠
- p.Glu124Ala Single submitter ⚠
- p.Glu414Asp Single submitter ⚠
- p.Gly253Glu Single submitter ⚠
- p.Gly408Ala Single submitter ⚠
- p.Gly408Glu Single submitter ⚠
- p.Gly439Val Single submitter ⚠
- p.Gly95Ala Single submitter ⚠
- p.His311Asp Single submitter ⚠
- p.His311Gln Single submitter ⚠
- p.Ile196Thr Single submitter ⚠
- p.Ile238Val Single submitter ⚠
- p.Lys264Ile Single submitter ⚠
- p.Lys366Arg Single submitter ⚠
- p.Met252Ile Single submitter ⚠
- p.Phe395Cys Single submitter ⚠
- p.Pro106Ser Single submitter ⚠
- p.Pro232Ala Single submitter ⚠
- p.Pro24Gln Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro400Ala Single submitter ⚠
- p.Pro400Ser Single submitter ⚠
- p.Pro400Thr Single submitter ⚠
- p.Pro403Leu Single submitter ⚠
- p.Pro462Ala Single submitter ⚠
- p.Pro462Ser Single submitter ⚠
- p.Ser41Phe Single submitter ⚠
- p.Ser427Phe Single submitter ⚠
- p.Ser98Phe Single submitter ⚠
- p.Thr296Met Single submitter ⚠
- p.Thr326Ile Single submitter ⚠
- p.Thr326Lys Single submitter ⚠
- p.Thr384Arg Single submitter ⚠
- p.Thr46Ile Single submitter ⚠
- p.Trp73Arg Single submitter ⚠
- p.Tyr112His Single submitter ⚠
- p.Tyr189Cys Single submitter ⚠
- p.Tyr450Cys Single submitter ⚠
- p.Tyr450His Single submitter ⚠
- p.Val131Leu Single submitter ⚠
- p.Val303Asp Single submitter ⚠
- p.Val303Ile Single submitter ⚠
- p.Val347Met Single submitter ⚠
- p.Val351Ala Single submitter ⚠
- p.Val37Met Single submitter ⚠