BTBD2 — 97 ClinVar variants
All ClinVar germline BTBD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
9 Likely benign · 88 Uncertain significance
Full BTBD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD2 p.Ala201Val Uncertain significance Single submitter
- BTBD2 p.Ala33Gly Uncertain significance Single submitter
- BTBD2 p.Ala37Val Uncertain significance Single submitter
- BTBD2 p.Ala3Thr Uncertain significance Single submitter
- BTBD2 p.Ala41Glu Uncertain significance Single submitter
- BTBD2 p.Ala42Ser Uncertain significance Single submitter
- BTBD2 p.Ala446Val Uncertain significance Single submitter
- BTBD2 p.Ala54Ser Uncertain significance Single submitter
- BTBD2 p.Ala77Thr Uncertain significance Single submitter
- BTBD2 p.Ala81Val Uncertain significance Single submitter
- BTBD2 p.Ala85Thr Uncertain significance Single submitter
- BTBD2 p.Arg131Cys Uncertain significance Single submitter
- BTBD2 p.Arg362Gln Uncertain significance Single submitter
- BTBD2 p.Arg362Gly Uncertain significance Single submitter
- BTBD2 p.Arg400Leu Uncertain significance Single submitter
- BTBD2 p.Arg450Cys Uncertain significance Single submitter
- BTBD2 p.Arg450His Uncertain significance Single submitter
- BTBD2 p.Arg484Cys Uncertain significance Single submitter
- BTBD2 p.Asp246Glu Uncertain significance Single submitter
- BTBD2 p.Asp273Asn Uncertain significance Single submitter
- BTBD2 p.Asp443Asn Uncertain significance Single submitter
- BTBD2 p.Glu293Lys Uncertain significance Single submitter
- BTBD2 p.Glu520Lys Uncertain significance Single submitter
- BTBD2 p.Glu79Ala Uncertain significance Single submitter
- BTBD2 p.Glu91Asp Uncertain significance Single submitter
- BTBD2 p.Glu91Val Uncertain significance Single submitter
- BTBD2 p.Gly23Arg Uncertain significance Single submitter
- BTBD2 p.Gly39Ser Uncertain significance Single submitter
- BTBD2 p.Gly516Cys Uncertain significance Single submitter
- BTBD2 p.Gly84Ala Uncertain significance Single submitter
- BTBD2 p.Gly8Ala Uncertain significance Single submitter
- BTBD2 p.Ile425Ser Uncertain significance Single submitter
- BTBD2 p.Lys312Glu Uncertain significance Single submitter
- BTBD2 p.Lys454Arg Uncertain significance Single submitter
- BTBD2 p.Met224Val Uncertain significance Single submitter
- BTBD2 p.Phe349Val Uncertain significance Single submitter
- BTBD2 p.Phe377Ser Uncertain significance Single submitter
- BTBD2 p.Pro101Ser Uncertain significance Single submitter
- BTBD2 p.Pro26Ser Uncertain significance Single submitter
- BTBD2 p.Pro363Arg Uncertain significance Single submitter
- BTBD2 p.Pro36Arg Uncertain significance Single submitter
- BTBD2 p.Pro474Ser Uncertain significance Single submitter
- BTBD2 p.Pro60Arg Uncertain significance Single submitter
- BTBD2 p.Pro62Gln Uncertain significance Single submitter
- BTBD2 p.Ser11Leu Uncertain significance Single submitter
- BTBD2 p.Ser11Pro Uncertain significance Single submitter
- BTBD2 p.Ser334Leu Uncertain significance Single submitter
- BTBD2 p.Thr193Lys Uncertain significance Single submitter
- BTBD2 p.Thr22Ser Uncertain significance Single submitter
- BTBD2 p.Thr438Met Uncertain significance Single submitter
- BTBD2 p.Thr58Pro Uncertain significance Single submitter
- BTBD2 p.Val115Met Uncertain significance Single submitter
- BTBD2 p.Val123Met Uncertain significance Single submitter
- BTBD2 p.Val141Ala Uncertain significance Single submitter
- BTBD2 p.Val280Ala Uncertain significance Single submitter
- BTBD2 p.Val286Ala Uncertain significance Single submitter
- BTBD2 p.Val403Leu Uncertain significance Single submitter
- BTBD2 p.Val403Met Uncertain significance Single submitter
- BTBD2 p.Val432Ala Uncertain significance Single submitter
- BTBD2 p.Val463Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- BTBD2 p.Ala201Ser Uncertain significance Single submitter
- BTBD2 p.Ala49Ser Uncertain significance Single submitter
- BTBD2 p.Arg278His Uncertain significance Single submitter
- BTBD2 p.Arg368Leu Uncertain significance Single submitter
- BTBD2 p.Asn113Asp Uncertain significance Single submitter
- BTBD2 p.Asp246Gly Uncertain significance Single submitter
- BTBD2 p.Asp437Asn Uncertain significance Single submitter
- BTBD2 p.Gln379Arg Uncertain significance Single submitter
- BTBD2 p.Gly434Ser Uncertain significance Single submitter
- BTBD2 p.Ile277Thr Uncertain significance Single submitter
- BTBD2 p.Lys308Asn Uncertain significance Single submitter
- BTBD2 p.Lys308Thr Uncertain significance Single submitter
- BTBD2 p.Pro415Ser Uncertain significance Single submitter
- BTBD2 p.Ser128Arg Uncertain significance Single submitter
- BTBD2 p.Thr302Met Uncertain significance Single submitter
- BTBD2 p.Thr493Met Uncertain significance Single submitter
- BTBD2 p.Trp96Arg Uncertain significance Single submitter
- BTBD2 p.Val138Met Uncertain significance Single submitter
- BTBD2 p.Val286Ile Uncertain significance Single submitter
- BTBD2 p.Val380Ala Uncertain significance Single submitter
- BTBD2 p.Val459Met Uncertain significance Single submitter
All BTBD2 variants
Likely benign 9
- c.408-8C>T Single submitter
- p.Ala144= Single submitter
- p.Ala169= Single submitter
- p.Ala48_Ala54del Single submitter
- p.Asn31= Single submitter
- p.Asp251= Single submitter
- p.Pro65= Single submitter
- p.Tyr503= Single submitter
- p.Arg9Cys No assertion criteria BTBD2-related disorder
Uncertain significance 88
- p.Ala201Ser Single submitter ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala33Gly Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala41Glu Single submitter ⚠
- p.Ala42Ser Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala49Ser Single submitter ⚠
- p.Ala54Ser Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Ala81Val Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg281Trp Single submitter
- p.Arg288His Single submitter
- p.Arg362Gln Single submitter ⚠
- p.Arg362Gly Single submitter ⚠
- p.Arg368Leu Single submitter ⚠
- p.Arg400Leu Single submitter ⚠
- p.Arg450Cys Single submitter ⚠
- p.Arg450His Single submitter ⚠
- p.Arg484Cys Single submitter ⚠
- p.Asn113Asp Single submitter ⚠
- p.Asn462Asp Single submitter
- p.Asp246Glu Single submitter ⚠
- p.Asp246Gly Single submitter ⚠
- p.Asp273Asn Single submitter ⚠
- p.Asp437Asn Single submitter ⚠
- p.Asp443Asn Single submitter ⚠
- p.Cys366Ser Single submitter
- p.Gln379Arg Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu520Lys Single submitter ⚠
- p.Glu79Ala Single submitter ⚠
- p.Glu91Asp Single submitter ⚠
- p.Glu91Val Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.Gly434Ser Single submitter ⚠
- p.Gly516Cys Single submitter ⚠
- p.Gly84Ala Single submitter ⚠
- p.Gly8Ala Single submitter ⚠
- p.Gly8Trp Single submitter
- p.His488Arg Single submitter
- p.Ile277Thr Single submitter ⚠
- p.Ile425Ser Single submitter ⚠
- p.Lys308Asn Single submitter ⚠
- p.Lys308Thr Single submitter ⚠
- p.Lys312Glu Single submitter ⚠
- p.Lys454Arg Single submitter ⚠
- p.Met224Val Single submitter ⚠
- p.Phe349Val Single submitter ⚠
- p.Phe377Ser Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro26Ser Single submitter ⚠
- p.Pro363Arg Single submitter ⚠
- p.Pro36Arg Single submitter ⚠
- p.Pro415Ser Single submitter ⚠
- p.Pro474Ser Single submitter ⚠
- p.Pro60Arg Single submitter ⚠
- p.Pro62Gln Single submitter ⚠
- p.Ser11Leu Single submitter ⚠
- p.Ser11Pro Single submitter ⚠
- p.Ser128Arg Single submitter ⚠
- p.Ser334Leu Single submitter ⚠
- p.Thr193Lys Single submitter ⚠
- p.Thr22Ser Single submitter ⚠
- p.Thr302Met Single submitter ⚠
- p.Thr438Met Single submitter ⚠
- p.Thr493Met Single submitter ⚠
- p.Thr58Pro Single submitter ⚠
- p.Trp96Arg Single submitter ⚠
- p.Val115Met Single submitter ⚠
- p.Val123Met Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val141Ala Single submitter ⚠
- p.Val280Ala Single submitter ⚠
- p.Val286Ala Single submitter ⚠
- p.Val286Ile Single submitter ⚠
- p.Val380Ala Single submitter ⚠
- p.Val403Leu Single submitter ⚠
- p.Val403Met Single submitter ⚠
- p.Val432Ala Single submitter ⚠
- p.Val451Ile Single submitter
- p.Val459Met Single submitter ⚠
- p.Val463Ile Single submitter ⚠