BTBD19 — 51 ClinVar variants
All ClinVar germline BTBD19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
3 Likely benign · 48 Uncertain significance
Full BTBD19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD19 p.Ala107Gly Uncertain significance Single submitter
- BTBD19 p.Ala176Ser Uncertain significance Single submitter
- BTBD19 p.Ala191Val Uncertain significance Single submitter
- BTBD19 p.Ala229Thr Uncertain significance Single submitter
- BTBD19 p.Ala231Val Uncertain significance Single submitter
- BTBD19 p.Ala235Ser Uncertain significance Single submitter
- BTBD19 p.Arg195Cys Uncertain significance Single submitter
- BTBD19 p.Arg195Gly Uncertain significance Single submitter
- BTBD19 p.Arg195His Uncertain significance Single submitter
- BTBD19 p.Arg20Gln Uncertain significance Single submitter
- BTBD19 p.Arg267Gln Uncertain significance Single submitter
- BTBD19 p.Arg273His Uncertain significance Single submitter
- BTBD19 p.Arg280Gln Uncertain significance Single submitter
- BTBD19 p.Arg284His Uncertain significance Single submitter
- BTBD19 p.Arg39Gln Uncertain significance Single submitter
- BTBD19 p.Arg98Cys Uncertain significance Single submitter
- BTBD19 p.Arg98His Uncertain significance Single submitter
- BTBD19 p.Arg98Leu Uncertain significance Single submitter
- BTBD19 p.Asp287Gly Uncertain significance Single submitter
- BTBD19 p.Cys187Arg Uncertain significance Single submitter
- BTBD19 p.Gln242Glu Uncertain significance Single submitter
- BTBD19 p.Glu41Ala Uncertain significance Single submitter
- BTBD19 p.His9Arg Uncertain significance Single submitter
- BTBD19 p.Leu180Pro Uncertain significance Single submitter
- BTBD19 p.Leu180Val Uncertain significance Single submitter
- BTBD19 p.Pro270Ala Uncertain significance Single submitter
- BTBD19 p.Pro279Leu Uncertain significance Single submitter
- BTBD19 p.Pro66Leu Uncertain significance Single submitter
- BTBD19 p.Ser21Arg Uncertain significance Single submitter
- BTBD19 p.Ser75Asn Uncertain significance Single submitter
- BTBD19 p.Trp200Arg Uncertain significance Single submitter
- BTBD19 p.Val101Leu Uncertain significance Single submitter
- BTBD19 p.Val153Leu Uncertain significance Single submitter
- BTBD19 p.Val72Leu Uncertain significance Single submitter
- BTBD19 p.Val94Phe Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- BTBD19 p.Ala176Val Uncertain significance Single submitter
- BTBD19 p.Arg182Cys Uncertain significance Single submitter
- BTBD19 p.Arg39Trp Uncertain significance Single submitter
- BTBD19 p.Arg46Gln Uncertain significance Single submitter
- BTBD19 p.Cys51Tyr Uncertain significance Single submitter
- BTBD19 p.Glu103Lys Uncertain significance Single submitter
- BTBD19 p.Ile156Thr Uncertain significance Single submitter
- BTBD19 p.Phe285Leu Uncertain significance Single submitter
- BTBD19 p.Pro218Leu Uncertain significance Single submitter
- BTBD19 p.Pro230Arg Uncertain significance Single submitter
- BTBD19 p.Pro26Leu Uncertain significance Single submitter
- BTBD19 p.Val130Met Uncertain significance Single submitter
- BTBD19 p.Val34Met Uncertain significance Single submitter
All BTBD19 variants
Likely benign 3
- p.Ala17Thr Single submitter
- p.Ala269Thr Single submitter
- p.Arg27Gln Single submitter
Uncertain significance 48
- p.Ala107Gly Single submitter ⚠
- p.Ala176Ser Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala235Ser Single submitter ⚠
- p.Arg182Cys Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg195Gly Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg20Gln Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Arg98Leu Single submitter ⚠
- p.Asp287Gly Single submitter ⚠
- p.Cys187Arg Single submitter ⚠
- p.Cys51Tyr Single submitter ⚠
- p.Gln242Glu Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu41Ala Single submitter ⚠
- p.His9Arg Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Leu180Pro Single submitter ⚠
- p.Leu180Val Single submitter ⚠
- p.Phe285Leu Single submitter ⚠
- p.Pro218Leu Single submitter ⚠
- p.Pro230Arg Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro270Ala Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro66Leu Single submitter ⚠
- p.Ser21Arg Single submitter ⚠
- p.Ser75Asn Single submitter ⚠
- p.Trp200Arg Single submitter ⚠
- p.Val101Leu Single submitter ⚠
- p.Val130Met Single submitter ⚠
- p.Val153Leu Single submitter ⚠
- p.Val34Met Single submitter ⚠
- p.Val72Leu Single submitter ⚠
- p.Val94Phe Single submitter ⚠