CHAD — 57 ClinVar variants
All ClinVar germline CHAD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Conflicting · 4 Benign · 2 Likely benign · 50 Uncertain significance
Full CHAD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHAD p.Ala342Thr Uncertain significance Single submitter
- CHAD p.Ala73Asp Uncertain significance Single submitter
- CHAD p.Arg174Gly Uncertain significance Single submitter
- CHAD p.Arg321Cys Uncertain significance Single submitter
- CHAD p.Arg338Cys Uncertain significance Single submitter
- CHAD p.Arg358Leu Uncertain significance Single submitter
- CHAD p.Arg72Gln Uncertain significance Single submitter
- CHAD p.Asn278Ile Uncertain significance Single submitter
- CHAD p.Asp120Glu Uncertain significance Single submitter
- CHAD p.Cys346Ser Uncertain significance Single submitter
- CHAD p.Cys85Arg Uncertain significance Single submitter
- CHAD p.Glu222Gly Uncertain significance Single submitter
- CHAD p.Glu51Gln Uncertain significance Single submitter
- CHAD p.Leu17Pro Uncertain significance Single submitter
- CHAD p.Leu295Ile Uncertain significance Single submitter
- CHAD p.Lys158Glu Uncertain significance Single submitter
- CHAD p.Met5Ile Uncertain significance Single submitter
- CHAD p.Tyr103Cys Uncertain significance Single submitter
- CHAD p.Val273Ile Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- CHAD p.Thr350Ile Benign Multiple submitters
- CHAD p.Ala170Thr Uncertain significance Single submitter
- CHAD p.Ala190Asp Uncertain significance Single submitter
- CHAD p.Ala198Thr Uncertain significance Single submitter
- CHAD p.Ala198Val Uncertain significance Single submitter
- CHAD p.Ala22Pro Uncertain significance Single submitter
- CHAD p.Ala263Gly Uncertain significance Single submitter
- CHAD p.Ala342Asp Likely benign Single submitter
- CHAD p.Arg160Gly Uncertain significance Single submitter
- CHAD p.Arg163His Uncertain significance Single submitter
- CHAD p.Arg309Trp Uncertain significance Single submitter
- CHAD p.Arg312Trp Uncertain significance Single submitter
- CHAD p.Arg313Trp Uncertain significance Single submitter
- CHAD p.Arg338His Uncertain significance Single submitter
- CHAD p.Arg344Cys Uncertain significance Single submitter
- CHAD p.Arg344His Uncertain significance Single submitter
- CHAD p.Arg72Trp Uncertain significance Single submitter
- CHAD p.Asp39Asn Uncertain significance Single submitter
- CHAD p.Gln187Lys Uncertain significance Single submitter
- CHAD p.Gln25His Uncertain significance Single submitter
- CHAD p.Glu89Gln Uncertain significance Single submitter
- CHAD p.Gly266Ser Uncertain significance Single submitter
- CHAD p.Gly93Arg Uncertain significance Single submitter
- CHAD p.His30Arg Uncertain significance Single submitter
- CHAD p.Leu191Val Conflicting Single submitter
- CHAD p.Leu6Pro Uncertain significance Single submitter
- CHAD p.Lys52Thr Uncertain significance Single submitter
- CHAD p.Phe150Ser Uncertain significance Single submitter
- CHAD p.Pro145Leu Uncertain significance Single submitter
- CHAD p.Pro188Leu Uncertain significance Single submitter
- CHAD p.Pro18Gln Uncertain significance Single submitter
- CHAD p.Pro64Leu Uncertain significance Single submitter
- CHAD p.Ser208Phe Uncertain significance Single submitter
- CHAD p.Ser291Arg Uncertain significance Single submitter
All CHAD variants
Conflicting classifications of pathogenicity 1
- p.Leu191Val Single submitter ⚠
Benign 4
- p.Gln25Lys Multiple submitters
- p.Leu226= Multiple submitters
- p.Pro349= Multiple submitters
- p.Thr350Ile Multiple submitters ⚠
Likely benign 2
- p.Ala342Asp Single submitter ⚠
- p.Ala73= Single submitter
Uncertain significance 50
- p.Ala170Thr Single submitter ⚠
- p.Ala190Asp Single submitter ⚠
- p.Ala198Thr Single submitter ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala22Pro Single submitter ⚠
- p.Ala263Gly Single submitter ⚠
- p.Ala342Thr Single submitter ⚠
- p.Ala73Asp Single submitter ⚠
- p.Arg160Gly Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg309Trp Single submitter ⚠
- p.Arg312Trp Single submitter ⚠
- p.Arg313Trp Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg338Cys Single submitter ⚠
- p.Arg338His Single submitter ⚠
- p.Arg344Cys Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg358Leu Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Asn278Ile Single submitter ⚠
- p.Asp120Glu Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Cys346Ser Single submitter ⚠
- p.Cys85Arg Single submitter ⚠
- p.Gln187Lys Single submitter ⚠
- p.Gln25His Single submitter ⚠
- p.Glu222Gly Single submitter ⚠
- p.Glu51Gln Single submitter ⚠
- p.Glu89Gln Single submitter ⚠
- p.Gly266Ser Single submitter ⚠
- p.Gly93Arg Single submitter ⚠
- p.His30Arg Single submitter ⚠
- p.Leu17Pro Single submitter ⚠
- p.Leu295Ile Single submitter ⚠
- p.Leu6Pro Single submitter ⚠
- p.Lys158Glu Single submitter ⚠
- p.Lys52Thr Single submitter ⚠
- p.Met5Ile Single submitter ⚠
- p.Phe150Ser Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro18Gln Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Ser208Phe Single submitter ⚠
- p.Ser291Arg Single submitter ⚠
- p.Tyr103Cys Single submitter ⚠
- p.Val273Ile Single submitter ⚠