CBFA2T2 — 68 ClinVar variants
All ClinVar germline CBFA2T2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
5 Likely benign · 63 Uncertain significance
Full CBFA2T2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBFA2T2 c.35-32725G>A Uncertain significance Single submitter
- CBFA2T2 c.35-32739G>T Uncertain significance Single submitter
- CBFA2T2 c.35-32746G>A Uncertain significance Single submitter
- CBFA2T2 c.35-32749A>G Uncertain significance Single submitter
- CBFA2T2 c.35-32751C>T Uncertain significance Single submitter
- CBFA2T2 p.Ala184Thr Uncertain significance Single submitter
- CBFA2T2 p.Ala186Val Uncertain significance Single submitter
- CBFA2T2 p.Ala345Val Uncertain significance Single submitter
- CBFA2T2 p.Ala481Thr Uncertain significance Single submitter
- CBFA2T2 p.Ala559Val Uncertain significance Single submitter
- CBFA2T2 p.Arg133Gln Uncertain significance Single submitter
- CBFA2T2 p.Arg17Gly Uncertain significance Single submitter
- CBFA2T2 p.Arg358His Uncertain significance Single submitter
- CBFA2T2 p.Arg365Cys Uncertain significance Single submitter
- CBFA2T2 p.Arg380Trp Uncertain significance Single submitter
- CBFA2T2 p.Arg468Gln Uncertain significance Single submitter
- CBFA2T2 p.Asn382Ser Uncertain significance Single submitter
- CBFA2T2 p.Asn489Thr Uncertain significance Single submitter
- CBFA2T2 p.Asn593Ser Uncertain significance Single submitter
- CBFA2T2 p.Asn65Ser Uncertain significance Single submitter
- CBFA2T2 p.Asp475Glu Uncertain significance Single submitter
- CBFA2T2 p.Asp563Asn Uncertain significance Single submitter
- CBFA2T2 p.Asp572Asn Uncertain significance Single submitter
- CBFA2T2 p.Cys151Tyr Uncertain significance Single submitter
- CBFA2T2 p.Gln412Glu Uncertain significance Single submitter
- CBFA2T2 p.Glu147Lys Uncertain significance Single submitter
- CBFA2T2 p.Glu507Lys Uncertain significance Single submitter
- CBFA2T2 p.Gly320Asp Uncertain significance Single submitter
- CBFA2T2 p.Gly556Ser Uncertain significance Single submitter
- CBFA2T2 p.Ile590Val Uncertain significance Single submitter
- CBFA2T2 p.Lys340Arg Uncertain significance Single submitter
- CBFA2T2 p.Lys477Arg Uncertain significance Single submitter
- CBFA2T2 p.Met218Thr Uncertain significance Single submitter
- CBFA2T2 p.Pro244Ser Uncertain significance Single submitter
- CBFA2T2 p.Pro244Thr Uncertain significance Single submitter
- CBFA2T2 p.Pro50Ser Uncertain significance Single submitter
- CBFA2T2 p.Pro567Leu Uncertain significance Single submitter
- CBFA2T2 p.Ser209Leu Uncertain significance Single submitter
- CBFA2T2 p.Ser314Arg Uncertain significance Single submitter
- CBFA2T2 p.Ser565Gly Uncertain significance Single submitter
- CBFA2T2 p.Ser61Asn Uncertain significance Single submitter
- CBFA2T2 p.Thr56Ile Uncertain significance Single submitter
- CBFA2T2 p.Thr574Asn Uncertain significance Single submitter
- CBFA2T2 p.Trp377Cys Uncertain significance Single submitter
- CBFA2T2 p.Val451Ile Uncertain significance Single submitter
- CBFA2T2 p.Val461Leu Uncertain significance Single submitter
- CBFA2T2 p.Val53Glu Uncertain significance Single submitter
- CBFA2T2 p.Val566Ala Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CBFA2T2 p.Arg365His Uncertain significance Single submitter
- CBFA2T2 p.Asn65Lys Uncertain significance Single submitter
- CBFA2T2 p.Cys151Arg Uncertain significance Single submitter
- CBFA2T2 p.Glu324Lys Uncertain significance Single submitter
- CBFA2T2 p.Gly23Arg Uncertain significance Single submitter
- CBFA2T2 p.Gly422Arg Uncertain significance Single submitter
- CBFA2T2 p.Leu330Phe Uncertain significance Single submitter
- CBFA2T2 p.Lys188Asn Uncertain significance Single submitter
- CBFA2T2 p.Met352Ile Uncertain significance Single submitter
- CBFA2T2 p.Ser108Asn Uncertain significance Single submitter
- CBFA2T2 p.Ser494Phe Uncertain significance Single submitter
All CBFA2T2 variants
Likely benign 5
- c.35-32737A>G Single submitter
- c.693-6C>T Single submitter
- p.Asn416Ser Single submitter
- p.Asn489Ser Single submitter
- p.Ile242Val Single submitter
Uncertain significance 63
- c.35-32725G>A Single submitter ⚠
- c.35-32739G>T Single submitter ⚠
- c.35-32746G>A Single submitter ⚠
- c.35-32749A>G Single submitter ⚠
- c.35-32751C>T Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala345Val Single submitter ⚠
- p.Ala481Thr Single submitter ⚠
- p.Ala559Val Single submitter ⚠
- p.Arg133Gln Single submitter ⚠
- p.Arg17Gly Single submitter ⚠
- p.Arg358His Single submitter ⚠
- p.Arg365Cys Single submitter ⚠
- p.Arg365His Single submitter ⚠
- p.Arg371His Single submitter
- p.Arg380Trp Single submitter ⚠
- p.Arg468Gln Single submitter ⚠
- p.Asn382Ser Single submitter ⚠
- p.Asn489Thr Single submitter ⚠
- p.Asn593Ser Single submitter ⚠
- p.Asn65Lys Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp475Glu Single submitter ⚠
- p.Asp563Asn Single submitter ⚠
- p.Asp572Asn Single submitter ⚠
- p.Cys151Arg Single submitter ⚠
- p.Cys151Tyr Single submitter ⚠
- p.Gln412Glu Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu324Lys Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly320Asp Single submitter ⚠
- p.Gly422Arg Single submitter ⚠
- p.Gly556Ser Single submitter ⚠
- p.His344Arg Single submitter
- p.Ile590Val Single submitter ⚠
- p.Leu330Phe Single submitter ⚠
- p.Leu533Arg Single submitter
- p.Lys188Asn Single submitter ⚠
- p.Lys340Arg Single submitter ⚠
- p.Lys477Arg Single submitter ⚠
- p.Met218Thr Single submitter ⚠
- p.Met352Ile Single submitter ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro244Thr Single submitter ⚠
- p.Pro50Ser Single submitter ⚠
- p.Pro567Leu Single submitter ⚠
- p.Ser108Asn Single submitter ⚠
- p.Ser209Leu Single submitter ⚠
- p.Ser314Arg Single submitter ⚠
- p.Ser494Phe Single submitter ⚠
- p.Ser565Gly Single submitter ⚠
- p.Ser61Asn Single submitter ⚠
- p.Thr56Ile Single submitter ⚠
- p.Thr574Asn Single submitter ⚠
- p.Trp377Cys Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val461Leu Single submitter ⚠
- p.Val4Ile Single submitter
- p.Val53Glu Single submitter ⚠
- p.Val566Ala Single submitter ⚠