CHID1 — 58 ClinVar variants
All ClinVar germline CHID1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
4 Likely benign · 54 Uncertain significance
Full CHID1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHID1 p.Ala266Val Uncertain significance Single submitter
- CHID1 p.Ala307Thr Uncertain significance Single submitter
- CHID1 p.Arg161Leu Uncertain significance Single submitter
- CHID1 p.Asp236Asn Uncertain significance Single submitter
- CHID1 p.Asp262Asn Uncertain significance Single submitter
- CHID1 p.Asp305Gly Uncertain significance Single submitter
- CHID1 p.Gln200Arg Uncertain significance Single submitter
- CHID1 p.Gln364His Uncertain significance Single submitter
- CHID1 p.Gln39Arg Uncertain significance Single submitter
- CHID1 p.Gly318Arg Uncertain significance Single submitter
- CHID1 p.Gly383Ser Uncertain significance Single submitter
- CHID1 p.Ile146Val Uncertain significance Single submitter
- CHID1 p.Lys32Glu Uncertain significance Single submitter
- CHID1 p.Met120Leu Uncertain significance Single submitter
- CHID1 p.Ser59Gly Uncertain significance Single submitter
- CHID1 p.Ser69Leu Uncertain significance Single submitter
- CHID1 p.Thr124Ser Uncertain significance Single submitter
- CHID1 p.Thr20Ser Uncertain significance Single submitter
- CHID1 p.Thr53Met Uncertain significance Single submitter
- CHID1 p.Val129Met Uncertain significance Single submitter
- CHID1 p.Val354Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- CHID1 p.Ala219Val Uncertain significance Single submitter
- CHID1 p.Ala319Val Uncertain significance Single submitter
- CHID1 p.Ala78Val Uncertain significance Single submitter
- CHID1 p.Arg118Cys Uncertain significance Single submitter
- CHID1 p.Arg149Trp Uncertain significance Single submitter
- CHID1 p.Arg161Trp Uncertain significance Single submitter
- CHID1 p.Arg220Trp Uncertain significance Single submitter
- CHID1 p.Arg320Trp Uncertain significance Single submitter
- CHID1 p.Arg349His Uncertain significance Single submitter
- CHID1 p.Arg366Gln Uncertain significance Single submitter
- CHID1 p.Asn195Lys Uncertain significance Single submitter
- CHID1 p.Asn272His Uncertain significance Single submitter
- CHID1 p.Asp187Asn Uncertain significance Single submitter
- CHID1 p.Asp187Tyr Uncertain significance Single submitter
- CHID1 p.Asp311Tyr Uncertain significance Single submitter
- CHID1 p.Asp94Asn Uncertain significance Single submitter
- CHID1 p.Glu192Gln Uncertain significance Single submitter
- CHID1 p.Glu63Gly Uncertain significance Single submitter
- CHID1 p.Gly49Val Uncertain significance Single submitter
- CHID1 p.His64Arg Uncertain significance Single submitter
- CHID1 p.Leu126Phe Uncertain significance Single submitter
- CHID1 p.Leu249Val Uncertain significance Single submitter
- CHID1 p.Leu360Val Uncertain significance Single submitter
- CHID1 p.Leu8Phe Uncertain significance Single submitter
- CHID1 p.Pro233Ser Uncertain significance Single submitter
- CHID1 p.Thr124Met Uncertain significance Single submitter
- CHID1 p.Thr242Met Uncertain significance Single submitter
- CHID1 p.Thr33Met Uncertain significance Single submitter
- CHID1 p.Val190Met Uncertain significance Single submitter
- CHID1 p.Val193Ala Uncertain significance Single submitter
- CHID1 p.Val252Met Uncertain significance Single submitter
- CHID1 p.Val355Ile Uncertain significance Single submitter
- CHID1 p.Val81Ile Uncertain significance Single submitter
All CHID1 variants
Likely benign 4
- p.Gln105His Single submitter
- p.Pro16Ser Single submitter
- p.Ser350Gly Single submitter
- p.Thr19Ala Single submitter
Uncertain significance 54
- p.Ala219Val Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala307Thr Single submitter ⚠
- p.Ala319Val Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg118Cys Single submitter ⚠
- p.Arg149Trp Single submitter ⚠
- p.Arg161Leu Single submitter ⚠
- p.Arg161Trp Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg349His Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Asn195Lys Single submitter ⚠
- p.Asn272His Single submitter ⚠
- p.Asp187Asn Single submitter ⚠
- p.Asp187Tyr Single submitter ⚠
- p.Asp236Asn Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Asp305Gly Single submitter ⚠
- p.Asp311Tyr Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Gln200Arg Single submitter ⚠
- p.Gln364His Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu63Gly Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.Gly383Ser Single submitter ⚠
- p.Gly49Val Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu249Val Single submitter ⚠
- p.Leu360Val Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Lys32Glu Single submitter ⚠
- p.Met120Leu Single submitter ⚠
- p.Pro233Ser Single submitter ⚠
- p.Ser59Gly Single submitter ⚠
- p.Ser69Leu Single submitter ⚠
- p.Thr124Met Single submitter ⚠
- p.Thr124Ser Single submitter ⚠
- p.Thr20Ser Single submitter ⚠
- p.Thr242Met Single submitter ⚠
- p.Thr33Met Single submitter ⚠
- p.Thr53Met Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val193Ala Single submitter ⚠
- p.Val252Met Single submitter ⚠
- p.Val354Ile Single submitter ⚠
- p.Val355Ile Single submitter ⚠
- p.Val81Ile Single submitter ⚠