CHDH — 110 ClinVar variants
All ClinVar germline CHDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
4 Benign · 9 Likely benign · 97 Uncertain significance
Full CHDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHDH p.Pro396Leu Uncertain significance Multiple submitters
- CHDH p.Ala13Val Uncertain significance Single submitter
- CHDH p.Ala345Thr Uncertain significance Single submitter
- CHDH p.Ala558Thr Uncertain significance Single submitter
- CHDH p.Ala64Thr Uncertain significance Single submitter
- CHDH p.Arg126Ser Uncertain significance Single submitter
- CHDH p.Arg141Cys Uncertain significance Single submitter
- CHDH p.Arg237Trp Uncertain significance Single submitter
- CHDH p.Arg271Pro Uncertain significance Single submitter
- CHDH p.Arg428Gln Uncertain significance Single submitter
- CHDH p.Arg58Trp Uncertain significance Single submitter
- CHDH p.Arg594Cys Uncertain significance Single submitter
- CHDH p.Asp458Gly Uncertain significance Single submitter
- CHDH p.Gln171Pro Uncertain significance Single submitter
- CHDH p.Glu204Lys Uncertain significance Single submitter
- CHDH p.Glu339Lys Uncertain significance Single submitter
- CHDH p.Glu40Gly Uncertain significance Single submitter
- CHDH p.Glu497Asp Uncertain significance Single submitter
- CHDH p.Glu71Val Uncertain significance Single submitter
- CHDH p.Gly172Ser Uncertain significance Single submitter
- CHDH p.Gly192Ser Uncertain significance Single submitter
- CHDH p.Gly47Asp Uncertain significance Single submitter
- CHDH p.Gly49Cys Uncertain significance Single submitter
- CHDH p.His143Tyr Uncertain significance Single submitter
- CHDH p.Ile408Thr Uncertain significance Single submitter
- CHDH p.Leu352Pro Uncertain significance Single submitter
- CHDH p.Leu464Val Uncertain significance Single submitter
- CHDH p.Leu556Pro Uncertain significance Single submitter
- CHDH p.Lys236Gln Uncertain significance Single submitter
- CHDH p.Lys436Gln Uncertain significance Single submitter
- CHDH p.Lys484Arg Uncertain significance Single submitter
- CHDH p.Phe501Ser Uncertain significance Single submitter
- CHDH p.Ser131Ala Uncertain significance Single submitter
- CHDH p.Ser250Asn Uncertain significance Single submitter
- CHDH p.Ser283Thr Uncertain significance Single submitter
- CHDH p.Ser37Thr Uncertain significance Single submitter
- CHDH p.Ser431Arg Uncertain significance Single submitter
- CHDH p.Ser513Leu Uncertain significance Single submitter
- CHDH p.Trp105Cys Uncertain significance Single submitter
- CHDH p.Trp122Arg Uncertain significance Single submitter
- CHDH p.Val119Glu Uncertain significance Single submitter
- CHDH p.Val140Phe Uncertain significance Single submitter
- CHDH p.Val275Gly Uncertain significance Single submitter
- CHDH p.Val413Ile Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- CHDH p.Ala170Thr Uncertain significance Single submitter
- CHDH p.Ala177Thr Uncertain significance Single submitter
- CHDH p.Ala240Val Uncertain significance Single submitter
- CHDH p.Ala31Val Uncertain significance Single submitter
- CHDH p.Ala479Gly Uncertain significance Single submitter
- CHDH p.Ala506Thr Uncertain significance Single submitter
- CHDH p.Arg10Gln Uncertain significance Single submitter
- CHDH p.Arg10Pro Uncertain significance Single submitter
- CHDH p.Arg10Trp Uncertain significance Single submitter
- CHDH p.Arg149Cys Uncertain significance Single submitter
- CHDH p.Arg152His Uncertain significance Single submitter
- CHDH p.Arg28Trp Uncertain significance Single submitter
- CHDH p.Arg348His Likely benign Single submitter
- CHDH p.Arg360Trp Uncertain significance Single submitter
- CHDH p.Arg388Cys Uncertain significance Single submitter
- CHDH p.Arg38Trp Uncertain significance Single submitter
- CHDH p.Arg412Trp Uncertain significance Single submitter
- CHDH p.Arg463His Uncertain significance Single submitter
- CHDH p.Arg66Pro Uncertain significance Single submitter
- CHDH p.Asp100Asn Uncertain significance Single submitter
- CHDH p.Asp229Glu Uncertain significance Single submitter
- CHDH p.Asp523Asn Uncertain significance Single submitter
- CHDH p.Gln23Glu Uncertain significance Single submitter
- CHDH p.Gln332Arg Uncertain significance Single submitter
- CHDH p.Glu148Lys Uncertain significance Single submitter
- CHDH p.Glu375Asp Likely benign Single submitter
- CHDH p.Gly114Asp Uncertain significance Single submitter
- CHDH p.Gly114Cys Uncertain significance Single submitter
- CHDH p.Gly274Ser Uncertain significance Single submitter
- CHDH p.Gly365Ala Uncertain significance Single submitter
- CHDH p.His491Gln Uncertain significance Single submitter
- CHDH p.Ile299Val Uncertain significance Single submitter
- CHDH p.Ile340Ser Uncertain significance Single submitter
- CHDH p.Ile571Phe Uncertain significance Single submitter
- CHDH p.Lys572Glu Uncertain significance Single submitter
- CHDH p.Pro186Leu Uncertain significance Single submitter
- CHDH p.Pro197Leu Uncertain significance Single submitter
- CHDH p.Pro212Leu Uncertain significance Single submitter
- CHDH p.Pro322Ser Uncertain significance Single submitter
- CHDH p.Pro349Arg Uncertain significance Single submitter
- CHDH p.Pro480Leu Uncertain significance Single submitter
- CHDH p.Pro583Arg Uncertain significance Single submitter
- CHDH p.Ser42Arg Uncertain significance Single submitter
- CHDH p.Ser42Gly Uncertain significance Single submitter
- CHDH p.Ser439Gly Uncertain significance Single submitter
- CHDH p.Ser81Asn Uncertain significance Single submitter
- CHDH p.Ser85Leu Likely benign Single submitter
- CHDH p.Thr373Ala Uncertain significance Single submitter
- CHDH p.Thr455Lys Uncertain significance Single submitter
- CHDH p.Thr532Lys Uncertain significance Single submitter
- CHDH p.Thr60Met Uncertain significance Single submitter
- CHDH p.Tyr287Cys Uncertain significance Single submitter
- CHDH p.Val275Met Uncertain significance Single submitter
- CHDH p.Val330Ile Uncertain significance Single submitter
- CHDH p.Val432Met Uncertain significance Single submitter
- CHDH p.Val67Leu Uncertain significance Single submitter
All CHDH variants
Benign 4
- c.704-3C>T Multiple submitters
- p.Gly235= Multiple submitters
- p.Val45= Multiple submitters
- p.Ser85= Single submitter
Likely benign 9
- p.Ala15_Leu19del Single submitter
- p.Ala240Thr Single submitter
- p.Arg348His Single submitter ⚠
- p.Arg360Gln Single submitter
- p.Glu375Asp Single submitter ⚠
- p.Glu65Lys Single submitter
- p.Pro512= Single submitter
- p.Ser85Leu Single submitter ⚠
- p.Val77Leu Single submitter
Uncertain significance 97
- p.Pro396Leu Multiple submitters ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala170Thr Single submitter ⚠
- p.Ala177Thr Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala479Gly Single submitter ⚠
- p.Ala506Thr Single submitter ⚠
- p.Ala558Thr Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg10Pro Single submitter ⚠
- p.Arg10Trp Single submitter ⚠
- p.Arg126Ser Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg152His Single submitter ⚠
- p.Arg237Trp Single submitter ⚠
- p.Arg271Pro Single submitter ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg360Trp Single submitter ⚠
- p.Arg388Cys Single submitter ⚠
- p.Arg38Trp Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg428Gln Single submitter ⚠
- p.Arg463His Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Arg594Cys Single submitter ⚠
- p.Arg66Pro Single submitter ⚠
- p.Asp100Asn Single submitter ⚠
- p.Asp229Glu Single submitter ⚠
- p.Asp458Gly Single submitter ⚠
- p.Asp523Asn Single submitter ⚠
- p.Gln171Pro Single submitter ⚠
- p.Gln23Glu Single submitter ⚠
- p.Gln332Arg Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu204Lys Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu40Gly Single submitter ⚠
- p.Glu497Asp Single submitter ⚠
- p.Glu71Val Single submitter ⚠
- p.Gly114Asp Single submitter ⚠
- p.Gly114Cys Single submitter ⚠
- p.Gly172Ser Single submitter ⚠
- p.Gly192Ser Single submitter ⚠
- p.Gly274Ser Single submitter ⚠
- p.Gly365Ala Single submitter ⚠
- p.Gly47Asp Single submitter ⚠
- p.Gly49Cys Single submitter ⚠
- p.His143Tyr Single submitter ⚠
- p.His491Gln Single submitter ⚠
- p.Ile299Val Single submitter ⚠
- p.Ile340Ser Single submitter ⚠
- p.Ile408Thr Single submitter ⚠
- p.Ile571Phe Single submitter ⚠
- p.Leu352Pro Single submitter ⚠
- p.Leu464Val Single submitter ⚠
- p.Leu556Pro Single submitter ⚠
- p.Lys236Gln Single submitter ⚠
- p.Lys436Gln Single submitter ⚠
- p.Lys484Arg Single submitter ⚠
- p.Lys572Glu Single submitter ⚠
- p.Phe501Ser Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro322Ser Single submitter ⚠
- p.Pro349Arg Single submitter ⚠
- p.Pro480Leu Single submitter ⚠
- p.Pro583Arg Single submitter ⚠
- p.Ser131Ala Single submitter ⚠
- p.Ser250Asn Single submitter ⚠
- p.Ser283Thr Single submitter ⚠
- p.Ser37Thr Single submitter ⚠
- p.Ser42Arg Single submitter ⚠
- p.Ser42Gly Single submitter ⚠
- p.Ser431Arg Single submitter ⚠
- p.Ser439Gly Single submitter ⚠
- p.Ser513Leu Single submitter ⚠
- p.Ser81Asn Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Thr455Lys Single submitter ⚠
- p.Thr532Lys Single submitter ⚠
- p.Thr60Met Single submitter ⚠
- p.Trp105Cys Single submitter ⚠
- p.Trp122Arg Single submitter ⚠
- p.Tyr287Cys Single submitter ⚠
- p.Val119Glu Single submitter ⚠
- p.Val140Phe Single submitter ⚠
- p.Val275Gly Single submitter ⚠
- p.Val275Met Single submitter ⚠
- p.Val330Ile Single submitter ⚠
- p.Val413Ile Single submitter ⚠
- p.Val432Met Single submitter ⚠
- p.Val67Leu Single submitter ⚠