MBTD1 — 43 ClinVar variants
All ClinVar germline MBTD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
43 Uncertain significance
Full MBTD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MBTD1 p.Ala163Val Uncertain significance Single submitter
- MBTD1 p.Ala266Ser Uncertain significance Single submitter
- MBTD1 p.Ala26Ser Uncertain significance Single submitter
- MBTD1 p.Arg177Ser Uncertain significance Single submitter
- MBTD1 p.Arg297Lys Uncertain significance Single submitter
- MBTD1 p.Arg316Lys Uncertain significance Single submitter
- MBTD1 p.Arg493His Uncertain significance Single submitter
- MBTD1 p.Arg507Cys Uncertain significance Single submitter
- MBTD1 p.Arg520His Uncertain significance Single submitter
- MBTD1 p.Arg523Gly Uncertain significance Single submitter
- MBTD1 p.Asn148His Uncertain significance Single submitter
- MBTD1 p.Asn148Ser Uncertain significance Single submitter
- MBTD1 p.Asn150Ser Uncertain significance Single submitter
- MBTD1 p.Asn175Ser Uncertain significance Single submitter
- MBTD1 p.Asn204Ser Uncertain significance Single submitter
- MBTD1 p.Asn223Ser Uncertain significance Single submitter
- MBTD1 p.Asn254Asp Uncertain significance Single submitter
- MBTD1 p.Asn31Thr Uncertain significance Single submitter
- MBTD1 p.Cys168Ser Uncertain significance Single submitter
- MBTD1 p.Glu323Asp Uncertain significance Single submitter
- MBTD1 p.Gly196Glu Uncertain significance Single submitter
- MBTD1 p.Gly444Ser Uncertain significance Single submitter
- MBTD1 p.His298Arg Uncertain significance Single submitter
- MBTD1 p.Ile224Val Uncertain significance Single submitter
- MBTD1 p.Ile34Val Uncertain significance Single submitter
- MBTD1 p.Ile624Val Uncertain significance Single submitter
- MBTD1 p.Leu593Arg Uncertain significance Single submitter
- MBTD1 p.Leu608Val Uncertain significance Single submitter
- MBTD1 p.Met281Val Uncertain significance Single submitter
- MBTD1 p.Pro271His Uncertain significance Single submitter
- MBTD1 p.Ser186Asn Uncertain significance Single submitter
- MBTD1 p.Ser21Thr Uncertain significance Single submitter
- MBTD1 p.Thr125Ile Uncertain significance Single submitter
- MBTD1 p.Thr132Ile Uncertain significance Single submitter
- MBTD1 p.Thr460Ala Uncertain significance Single submitter
- MBTD1 p.Trp193Cys Uncertain significance Single submitter
- MBTD1 p.Tyr5Cys Uncertain significance Single submitter
- MBTD1 p.Val136Ala Uncertain significance Single submitter
- MBTD1 p.Val294Ile Uncertain significance Single submitter
- MBTD1 p.Val377Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All MBTD1 variants
Uncertain significance 43
- p.Ala163Val Single submitter ⚠
- p.Ala266Ser Single submitter ⚠
- p.Ala26Ser Single submitter ⚠
- p.Arg177Ser Single submitter ⚠
- p.Arg297Lys Single submitter ⚠
- p.Arg316Lys Single submitter ⚠
- p.Arg493His Single submitter ⚠
- p.Arg507Cys Single submitter ⚠
- p.Arg520His Single submitter ⚠
- p.Arg523Gly Single submitter ⚠
- p.Asn148His Single submitter ⚠
- p.Asn148Ser Single submitter ⚠
- p.Asn150Ser Single submitter ⚠
- p.Asn175Ser Single submitter ⚠
- p.Asn204Ser Single submitter ⚠
- p.Asn223Ser Single submitter ⚠
- p.Asn254Asp Single submitter ⚠
- p.Asn31Thr Single submitter ⚠
- p.Asp6Val Single submitter ⚠
- p.Cys168Ser Single submitter ⚠
- p.Glu323Asp Single submitter ⚠
- p.Gly196Glu Single submitter ⚠
- p.Gly444Ser Single submitter ⚠
- p.His298Arg Single submitter ⚠
- p.Ile224Val Single submitter ⚠
- p.Ile347Thr Single submitter
- p.Ile34Val Single submitter ⚠
- p.Ile624Val Single submitter ⚠
- p.Leu593Arg Single submitter ⚠
- p.Leu608Val Single submitter ⚠
- p.Met281Val Single submitter ⚠
- p.Pro271His Single submitter ⚠
- p.Ser186Asn Single submitter ⚠
- p.Ser21Cys Single submitter ⚠
- p.Ser21Thr Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr132Ile Single submitter ⚠
- p.Thr460Ala Single submitter ⚠
- p.Trp193Cys Single submitter ⚠
- p.Tyr5Cys Single submitter ⚠
- p.Val136Ala Single submitter ⚠
- p.Val294Ile Single submitter ⚠
- p.Val377Ile Single submitter ⚠