CHAC2 — 46 ClinVar variants
All ClinVar germline CHAC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
46 Uncertain significance
Full CHAC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHAC2 p.Ala64Thr Uncertain significance Single submitter
- CHAC2 p.Arg40His Uncertain significance Single submitter
- CHAC2 p.Asn154Lys Uncertain significance Single submitter
- CHAC2 p.Asn180His Uncertain significance Single submitter
- CHAC2 p.Asp161Val Uncertain significance Single submitter
- CHAC2 p.Asp38Ala Uncertain significance Single submitter
- CHAC2 p.Gln18Glu Uncertain significance Single submitter
- CHAC2 p.Gly139Val Uncertain significance Single submitter
- CHAC2 p.Gly177Arg Uncertain significance Single submitter
- CHAC2 p.Gly177Glu Uncertain significance Single submitter
- CHAC2 p.Gly23Arg Uncertain significance Single submitter
- CHAC2 p.Gly35Asp Uncertain significance Single submitter
- CHAC2 p.Gly58Val Uncertain significance Single submitter
- CHAC2 p.Gly7Arg Uncertain significance Single submitter
- CHAC2 p.Gly86Ser Uncertain significance Single submitter
- CHAC2 p.Ile152Val Uncertain significance Single submitter
- CHAC2 p.Leu108Pro Uncertain significance Single submitter
- CHAC2 p.Leu21Val Uncertain significance Single submitter
- CHAC2 p.Lys20Arg Uncertain significance Single submitter
- CHAC2 p.Lys71Arg Uncertain significance Single submitter
- CHAC2 p.Phe146Ser Uncertain significance Single submitter
- CHAC2 p.Ser36Arg Uncertain significance Single submitter
- CHAC2 p.Ser36Thr Uncertain significance Single submitter
- CHAC2 p.Trp2Cys Uncertain significance Single submitter
- CHAC2 p.Trp33Arg Uncertain significance Single submitter
- CHAC2 p.Val13Ala Uncertain significance Single submitter
- CHAC2 p.Val50Leu Uncertain significance Single submitter
- CHAC2 p.Val75Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CHAC2 p.Ala149Gly Uncertain significance Single submitter
- CHAC2 p.Arg174Cys Uncertain significance Single submitter
- CHAC2 p.Arg174His Uncertain significance Single submitter
- CHAC2 p.Asp14Gly Uncertain significance Single submitter
- CHAC2 p.Gln130Arg Uncertain significance Single submitter
- CHAC2 p.Glu74Val Uncertain significance Single submitter
- CHAC2 p.Gly44Val Uncertain significance Single submitter
- CHAC2 p.Ile127Thr Uncertain significance Single submitter
- CHAC2 p.Leu181Phe Uncertain significance Single submitter
- CHAC2 p.Phe104Cys Uncertain significance Single submitter
- CHAC2 p.Pro116Arg Uncertain significance Single submitter
- CHAC2 p.Pro16Thr Uncertain significance Single submitter
- CHAC2 p.Ser105Gly Uncertain significance Single submitter
- CHAC2 p.Thr112Pro Uncertain significance Single submitter
- CHAC2 p.Thr26Ile Uncertain significance Single submitter
- CHAC2 p.Thr90Ile Uncertain significance Single submitter
- CHAC2 p.Tyr17His Uncertain significance Single submitter
- CHAC2 p.Val60Ile Uncertain significance Single submitter
All CHAC2 variants
Uncertain significance 46
- p.Ala149Gly Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Arg174Cys Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Asn154Lys Single submitter ⚠
- p.Asn180His Single submitter ⚠
- p.Asp14Gly Single submitter ⚠
- p.Asp161Val Single submitter ⚠
- p.Asp38Ala Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln18Glu Single submitter ⚠
- p.Glu74Val Single submitter ⚠
- p.Gly139Val Single submitter ⚠
- p.Gly177Arg Single submitter ⚠
- p.Gly177Glu Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly35Asp Single submitter ⚠
- p.Gly44Val Single submitter ⚠
- p.Gly58Val Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.Gly86Ser Single submitter ⚠
- p.Ile127Thr Single submitter ⚠
- p.Ile152Val Single submitter ⚠
- p.Leu108Pro Single submitter ⚠
- p.Leu181Phe Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Lys20Arg Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Phe104Cys Single submitter ⚠
- p.Phe146Ser Single submitter ⚠
- p.Pro116Arg Single submitter ⚠
- p.Pro16Thr Single submitter ⚠
- p.Ser105Gly Single submitter ⚠
- p.Ser36Arg Single submitter ⚠
- p.Ser36Thr Single submitter ⚠
- p.Thr112Pro Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr90Ile Single submitter ⚠
- p.Trp2Cys Single submitter ⚠
- p.Trp33Arg Single submitter ⚠
- p.Tyr17His Single submitter ⚠
- p.Val13Ala Single submitter ⚠
- p.Val50Leu Single submitter ⚠
- p.Val60Ile Single submitter ⚠
- p.Val75Ile Single submitter ⚠