BTNL2 — 49 ClinVar variants
All ClinVar germline BTNL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
6 Benign · 4 Likely benign · 39 Uncertain significance
Full BTNL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTNL2 p.Ala14Ser Uncertain significance Single submitter
- BTNL2 p.Ala306Thr Uncertain significance Single submitter
- BTNL2 p.Ala430Thr Uncertain significance Single submitter
- BTNL2 p.Arg192Cys Uncertain significance Single submitter
- BTNL2 p.Arg67His Uncertain significance Single submitter
- BTNL2 p.Asp128Ala Uncertain significance Single submitter
- BTNL2 p.Asp384Gly Uncertain significance Single submitter
- BTNL2 p.Gln121Arg Uncertain significance Single submitter
- BTNL2 p.Gln174Arg Uncertain significance Single submitter
- BTNL2 p.Gln253Glu Uncertain significance Single submitter
- BTNL2 p.Glu172Gly Uncertain significance Single submitter
- BTNL2 p.Glu190Lys Uncertain significance Single submitter
- BTNL2 p.Glu444Lys Uncertain significance Single submitter
- BTNL2 p.Glu454Gln Uncertain significance Single submitter
- BTNL2 p.Gly11Ser Uncertain significance Single submitter
- BTNL2 p.Gly443Asp Uncertain significance Single submitter
- BTNL2 p.Ile180Phe Uncertain significance Single submitter
- BTNL2 p.Ile428Met Uncertain significance Single submitter
- BTNL2 p.Ile98Met Uncertain significance Single submitter
-
BTNL2 p.Leu109Pro
Uncertain significance
Single submitter
BTNL2-related condition
- BTNL2 p.Leu162His Uncertain significance Single submitter
- BTNL2 p.Leu206Val Uncertain significance Single submitter
- BTNL2 p.Pro116Ser Uncertain significance Single submitter
- BTNL2 p.Ser277Thr Uncertain significance Single submitter
- BTNL2 p.Thr72Lys Uncertain significance Single submitter
- BTNL2 p.Val13Gly Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BTNL2 p.Ala14Asp Uncertain significance Single submitter
- BTNL2 p.Arg340Cys Uncertain significance Single submitter
- BTNL2 p.Asp335Asn Uncertain significance Single submitter
- BTNL2 p.Asp396Val Uncertain significance Single submitter
- BTNL2 p.Gln350Pro Uncertain significance Single submitter
- BTNL2 p.Pro34Arg Uncertain significance Single submitter
- BTNL2 p.Ser231Leu Uncertain significance Single submitter
- BTNL2 p.Val76Gly Uncertain significance Single submitter
All BTNL2 variants
Benign 6
- p.Ala12= Multiple submitters
- p.Arg284Ter Single submitter
- p.Asp118Asn Single submitter
- p.His151fs Single submitter
- p.Thr401Met Single submitter
- p.Val188Met Single submitter
Likely benign 4
- c.-6G>A Single submitter
- p.Asn8Ser Single submitter
- p.Leu422Phe Single submitter
- p.Pro333Thr Single submitter
Uncertain significance 39
- p.Gly337Arg Multiple submitters
- c.709+6T>C Single submitter
- c.80-284C>G Single submitter
- p.Ala14Asp Single submitter ⚠
- p.Ala14Ser Single submitter ⚠
- p.Ala306Thr Single submitter ⚠
- p.Ala430Thr Single submitter ⚠
- p.Arg192Cys Single submitter ⚠
- p.Arg340Cys Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Asp128Ala Single submitter ⚠
- p.Asp335Asn Single submitter ⚠
- p.Asp384Gly Single submitter ⚠
- p.Asp396Val Single submitter ⚠
- p.Gln121Arg Single submitter ⚠
- p.Gln174Arg Single submitter ⚠
- p.Gln253Glu Single submitter ⚠
- p.Gln350Pro Single submitter ⚠
- p.Glu172Gly Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu444Lys Single submitter ⚠
- p.Glu454Gln Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly443Asp Single submitter ⚠
- p.Ile180Phe Single submitter ⚠
- p.Ile428Met Single submitter ⚠
- p.Ile98Met Single submitter ⚠
- p.Leu109Pro Single submitter BTNL2-related condition ⚠
- p.Leu162His Single submitter ⚠
- p.Leu206Val Single submitter ⚠
- p.Pro116Ser Single submitter ⚠
- p.Pro271His Single submitter
- p.Pro34Arg Single submitter ⚠
- p.Ser158= Single submitter
- p.Ser231Leu Single submitter ⚠
- p.Ser277Thr Single submitter ⚠
- p.Thr72Lys Single submitter ⚠
- p.Val13Gly Single submitter ⚠
- p.Val76Gly Single submitter ⚠