CHRD — 170 ClinVar variants
All ClinVar germline CHRD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →
5 Benign · 11 Likely benign · 154 Uncertain significance
Full CHRD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 155
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 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHRD p.Ala251Glu Uncertain significance Single submitter
- CHRD p.Ala251Thr Uncertain significance Single submitter
- CHRD p.Ala386Gly Uncertain significance Single submitter
- CHRD p.Ala493Val Uncertain significance Single submitter
- CHRD p.Ala668Thr Uncertain significance Single submitter
- CHRD p.Ala668Val Uncertain significance Single submitter
- CHRD p.Ala675Val Uncertain significance Single submitter
- CHRD p.Ala678Val Uncertain significance Single submitter
- CHRD p.Ala687Ser Uncertain significance Single submitter
- CHRD p.Ala689Gly Uncertain significance Single submitter
- CHRD p.Ala689Val Uncertain significance Single submitter
- CHRD p.Ala691Gly Uncertain significance Single submitter
- CHRD p.Ala691Thr Uncertain significance Single submitter
- CHRD p.Ala81Thr Uncertain significance Single submitter
- CHRD p.Arg129Leu Uncertain significance Single submitter
- CHRD p.Arg210Gly Uncertain significance Single submitter
- CHRD p.Arg239Gln Uncertain significance Single submitter
- CHRD p.Arg243Gln Uncertain significance Single submitter
- CHRD p.Arg243Leu Uncertain significance Single submitter
- CHRD p.Arg274Gln Uncertain significance Single submitter
- CHRD p.Arg274Gly Uncertain significance Single submitter
- CHRD p.Arg276Trp Uncertain significance Single submitter
- CHRD p.Arg319Gln Uncertain significance Single submitter
- CHRD p.Arg461Gln Uncertain significance Single submitter
- CHRD p.Arg596Gln Uncertain significance Single submitter
- CHRD p.Arg597Gln Uncertain significance Single submitter
- CHRD p.Arg712Leu Uncertain significance Single submitter
- CHRD p.Arg778Gln Uncertain significance Single submitter
- CHRD p.Arg798Gln Uncertain significance Single submitter
- CHRD p.Arg870Gln Uncertain significance Single submitter
- CHRD p.Arg873His Uncertain significance Single submitter
- CHRD p.Arg89Gly Uncertain significance Single submitter
- CHRD p.Arg937Gln Uncertain significance Single submitter
- CHRD p.Asn504Ser Uncertain significance Single submitter
- CHRD p.Asp154Gly Uncertain significance Single submitter
- CHRD p.Asp739Tyr Uncertain significance Single submitter
- CHRD p.Cys563Arg Uncertain significance Single submitter
- CHRD p.Cys811Tyr Uncertain significance Single submitter
- CHRD p.Glu356Asp Uncertain significance Single submitter
- CHRD p.Glu615Asp Uncertain significance Single submitter
- CHRD p.Glu617Ala Uncertain significance Single submitter
- CHRD p.Glu708Gly Uncertain significance Single submitter
- CHRD p.Glu953Lys Uncertain significance Single submitter
- CHRD p.Gly168Ala Uncertain significance Single submitter
- CHRD p.Gly28Ser Uncertain significance Single submitter
- CHRD p.Gly327Arg Uncertain significance Single submitter
- CHRD p.Gly478Arg Uncertain significance Single submitter
- CHRD p.Gly601Ala Uncertain significance Single submitter
- CHRD p.Gly625Val Uncertain significance Single submitter
- CHRD p.Gly635Asp Uncertain significance Single submitter
- CHRD p.Gly655Arg Uncertain significance Single submitter
- CHRD p.Gly662Ala Uncertain significance Single submitter
- CHRD p.Gly662Arg Uncertain significance Single submitter
- CHRD p.Gly684Ser Uncertain significance Single submitter
- CHRD p.Gly684Val Uncertain significance Single submitter
- CHRD p.Gly855Glu Uncertain significance Single submitter
- CHRD p.His479Gln Uncertain significance Single submitter
- CHRD p.His531Arg Uncertain significance Single submitter
- CHRD p.His585Tyr Uncertain significance Single submitter
- CHRD p.Ile286Ser Uncertain significance Single submitter
- CHRD p.Ile286Val Uncertain significance Single submitter
- CHRD p.Ile36Leu Uncertain significance Single submitter
- CHRD p.Ile898Val Uncertain significance Single submitter
- CHRD p.Leu139Gln Uncertain significance Single submitter
- CHRD p.Leu261Val Uncertain significance Single submitter
- CHRD p.Met626Leu Uncertain significance Single submitter
- CHRD p.Phe314Cys Uncertain significance Single submitter
- CHRD p.Phe53Leu Uncertain significance Single submitter
- CHRD p.Pro179Leu Uncertain significance Single submitter
- CHRD p.Pro31Leu Uncertain significance Single submitter
- CHRD p.Pro44Ser Uncertain significance Single submitter
- CHRD p.Pro486Leu Uncertain significance Single submitter
- CHRD p.Pro616Leu Uncertain significance Single submitter
- CHRD p.Pro672Leu Uncertain significance Single submitter
- CHRD p.Pro672Ser Uncertain significance Single submitter
- CHRD p.Pro679Thr Uncertain significance Single submitter
- CHRD p.Pro686Leu Uncertain significance Single submitter
- CHRD p.Pro749Ala Uncertain significance Single submitter
- CHRD p.Ser190Leu Uncertain significance Single submitter
- CHRD p.Ser245Thr Uncertain significance Single submitter
- CHRD p.Ser426Leu Uncertain significance Single submitter
- CHRD p.Thr533Lys Uncertain significance Single submitter
- CHRD p.Thr533Met Uncertain significance Single submitter
- CHRD p.Thr581Ala Uncertain significance Single submitter
- CHRD p.Thr933Lys Uncertain significance Single submitter
- CHRD p.Tyr524His Uncertain significance Single submitter
- CHRD p.Val237Leu Uncertain significance Single submitter
- CHRD p.Val682Ala Uncertain significance Single submitter
Predictors split 67
The independent predictors disagree with each other — read with care.
- CHRD p.Ala27Pro Uncertain significance Single submitter
- CHRD p.Ala423Gly Uncertain significance Single submitter
- CHRD p.Ala427Gly Uncertain significance Single submitter
- CHRD p.Ala481Val Uncertain significance Single submitter
- CHRD p.Ala627Val Uncertain significance Single submitter
- CHRD p.Ala719Thr Uncertain significance Single submitter
- CHRD p.Ala795Val Uncertain significance Single submitter
- CHRD p.Arg193His Uncertain significance Single submitter
- CHRD p.Arg247Gly Uncertain significance Single submitter
- CHRD p.Arg274Trp Uncertain significance Single submitter
- CHRD p.Arg392Cys Uncertain significance Single submitter
- CHRD p.Arg392His Uncertain significance Single submitter
- CHRD p.Arg461Trp Uncertain significance Single submitter
- CHRD p.Arg465Cys Uncertain significance Single submitter
- CHRD p.Arg596Trp Uncertain significance Single submitter
- CHRD p.Arg667Trp Uncertain significance Single submitter
- CHRD p.Arg778Trp Uncertain significance Single submitter
- CHRD p.Arg790Trp Uncertain significance Single submitter
- CHRD p.Arg832Trp Uncertain significance Single submitter
- CHRD p.Arg840His Uncertain significance Single submitter
- CHRD p.Arg870Trp Uncertain significance Single submitter
- CHRD p.Asn217Ser Uncertain significance Single submitter
- CHRD p.Asn351Lys Uncertain significance Single submitter
- CHRD p.Asp171Val Uncertain significance Single submitter
- CHRD p.Asp206Tyr Uncertain significance Single submitter
- CHRD p.Asp372His Uncertain significance Single submitter
- CHRD p.Asp613Ala Uncertain significance Single submitter
- CHRD p.Asp845Asn Uncertain significance Single submitter
- CHRD p.Gly15Arg Uncertain significance Single submitter
- CHRD p.Gly26Cys Uncertain significance Single submitter
- CHRD p.Gly296Val Uncertain significance Single submitter
- CHRD p.Gly390Glu Likely benign Single submitter
- CHRD p.Gly625Asp Uncertain significance Single submitter
- CHRD p.Gly715Arg Uncertain significance Single submitter
- CHRD p.Gly93Val Uncertain significance Single submitter
- CHRD p.His566Leu Uncertain significance Single submitter
- CHRD p.Leu18Met Uncertain significance Single submitter
- CHRD p.Leu196Phe Uncertain significance Single submitter
- CHRD p.Leu305Phe Uncertain significance Single submitter
- CHRD p.Leu339Ile Uncertain significance Single submitter
- CHRD p.Leu391Met Uncertain significance Single submitter
- CHRD p.Leu60Ser Uncertain significance Single submitter
- CHRD p.Met453Arg Uncertain significance Single submitter
- CHRD p.Pro23Leu Uncertain significance Single submitter
- CHRD p.Pro2Leu Uncertain significance Single submitter
- CHRD p.Pro364Ala Uncertain significance Single submitter
- CHRD p.Pro364Ser Uncertain significance Single submitter
- CHRD p.Pro476Ser Uncertain significance Single submitter
- CHRD p.Pro724Leu Uncertain significance Single submitter
- CHRD p.Pro745Leu Uncertain significance Single submitter
- CHRD p.Pro751Leu Uncertain significance Single submitter
- CHRD p.Pro760His Uncertain significance Single submitter
- CHRD p.Ser131Ile Uncertain significance Single submitter
- CHRD p.Ser137Asn Uncertain significance Single submitter
- CHRD p.Ser448Asn Uncertain significance Single submitter
- CHRD p.Thr454Ile Uncertain significance Single submitter
- CHRD p.Thr592Met Likely benign Single submitter
- CHRD p.Thr730Ala Uncertain significance Single submitter
- CHRD p.Thr797Met Uncertain significance Single submitter
- CHRD p.Thr933Met Uncertain significance Single submitter
- CHRD p.Tyr58His Uncertain significance Single submitter
- CHRD p.Val33Met Uncertain significance Single submitter
- CHRD p.Val45Ile Uncertain significance Single submitter
- CHRD p.Val610Ala Uncertain significance Single submitter
- CHRD p.Val611Met Uncertain significance Single submitter
- CHRD p.Val741Ala Uncertain significance Single submitter
- CHRD p.Val802Ile Uncertain significance Single submitter
All CHRD variants
Benign 5
- p.Gln608= Multiple submitters
- p.Gly387Ser Multiple submitters
- p.Pro772= Multiple submitters
- p.Thr301= Multiple submitters
- c.1213+16_1213+17dup Single submitter
Likely benign 11
- p.Thr457Ser Multiple submitters Anophthalmia-microphthalmia syndrome
- p.Arg197= Single submitter
- p.Arg465His Single submitter
- p.Arg936Gln Single submitter
- p.Gly390Glu Single submitter ⚠
- p.Leu916Pro Single submitter
- p.Pro880= Single submitter
- p.Ser922Leu Single submitter
- p.Thr301Ala Single submitter
- p.Thr592Met Single submitter ⚠
- p.Val297Ile Single submitter
Uncertain significance 154
- p.Ala251Glu Single submitter ⚠
- p.Ala251Thr Single submitter ⚠
- p.Ala27Pro Single submitter ⚠
- p.Ala386Gly Single submitter ⚠
- p.Ala423Gly Single submitter ⚠
- p.Ala427Gly Single submitter ⚠
- p.Ala481Val Single submitter ⚠
- p.Ala493Val Single submitter ⚠
- p.Ala627Val Single submitter ⚠
- p.Ala668Thr Single submitter ⚠
- p.Ala668Val Single submitter ⚠
- p.Ala675Val Single submitter ⚠
- p.Ala678Val Single submitter ⚠
- p.Ala687Ser Single submitter ⚠
- p.Ala689Gly Single submitter ⚠
- p.Ala689Val Single submitter ⚠
- p.Ala691Gly Single submitter ⚠
- p.Ala691Thr Single submitter ⚠
- p.Ala719Thr Single submitter ⚠
- p.Ala795Val Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg129Leu Single submitter ⚠
- p.Arg193His Single submitter ⚠
- p.Arg210Gly Single submitter ⚠
- p.Arg239Gln Single submitter ⚠
- p.Arg243Gln Single submitter ⚠
- p.Arg243Leu Single submitter ⚠
- p.Arg247Gly Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg274Gly Single submitter ⚠
- p.Arg274Trp Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg392His Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Arg461Trp Single submitter ⚠
- p.Arg465Cys Single submitter ⚠
- p.Arg596Gln Single submitter ⚠
- p.Arg596Trp Single submitter ⚠
- p.Arg597Gln Single submitter ⚠
- p.Arg667Trp Single submitter ⚠
- p.Arg712Leu Single submitter ⚠
- p.Arg778Gln Single submitter ⚠
- p.Arg778Trp Single submitter ⚠
- p.Arg790Trp Single submitter ⚠
- p.Arg798Gln Single submitter ⚠
- p.Arg832Trp Single submitter ⚠
- p.Arg840His Single submitter ⚠
- p.Arg870Gln Single submitter ⚠
- p.Arg870Trp Single submitter ⚠
- p.Arg873His Single submitter ⚠
- p.Arg89Gly Single submitter ⚠
- p.Arg937Gln Single submitter ⚠
- p.Asn217Ser Single submitter ⚠
- p.Asn351Lys Single submitter ⚠
- p.Asn504Ser Single submitter ⚠
- p.Asp154Gly Single submitter ⚠
- p.Asp171Val Single submitter ⚠
- p.Asp206Tyr Single submitter ⚠
- p.Asp372His Single submitter ⚠
- p.Asp613Ala Single submitter ⚠
- p.Asp739Tyr Single submitter ⚠
- p.Asp845Asn Single submitter ⚠
- p.Cys563Arg Single submitter ⚠
- p.Cys811Tyr Single submitter ⚠
- p.Glu356Asp Single submitter ⚠
- p.Glu615Asp Single submitter ⚠
- p.Glu617Ala Single submitter ⚠
- p.Glu708Gly Single submitter ⚠
- p.Glu953Lys Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly168Ala Single submitter ⚠
- p.Gly26Cys Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.Gly296Val Single submitter ⚠
- p.Gly327Arg Single submitter ⚠
- p.Gly478Arg Single submitter ⚠
- p.Gly50fs Single submitter
- p.Gly601Ala Single submitter ⚠
- p.Gly625Asp Single submitter ⚠
- p.Gly625Val Single submitter ⚠
- p.Gly635Asp Single submitter ⚠
- p.Gly655Arg Single submitter ⚠
- p.Gly662Ala Single submitter ⚠
- p.Gly662Arg Single submitter ⚠
- p.Gly684Ser Single submitter ⚠
- p.Gly684Val Single submitter ⚠
- p.Gly715Arg Single submitter ⚠
- p.Gly855Glu Single submitter ⚠
- p.Gly93Val Single submitter ⚠
- p.His479Gln Single submitter ⚠
- p.His531Arg Single submitter ⚠
- p.His566Leu Single submitter ⚠
- p.His585Tyr Single submitter ⚠
- p.Ile286Ser Single submitter ⚠
- p.Ile286Val Single submitter ⚠
- p.Ile36Leu Single submitter ⚠
- p.Ile898Val Single submitter ⚠
- p.Leu139Gln Single submitter ⚠
- p.Leu18Met Single submitter ⚠
- p.Leu196Phe Single submitter ⚠
- p.Leu261Val Single submitter ⚠
- p.Leu305Phe Single submitter ⚠
- p.Leu339Ile Single submitter ⚠
- p.Leu391Met Single submitter ⚠
- p.Leu60Ser Single submitter ⚠
- p.Met453Arg Single submitter ⚠
- p.Met626Leu Single submitter ⚠
- p.Phe314Cys Single submitter ⚠
- p.Phe53Leu Single submitter ⚠
- p.Pro179Leu Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro364Ala Single submitter ⚠
- p.Pro364Ser Single submitter ⚠
- p.Pro44Ser Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Pro486Leu Single submitter ⚠
- p.Pro616Leu Single submitter ⚠
- p.Pro672Leu Single submitter ⚠
- p.Pro672Ser Single submitter ⚠
- p.Pro679Thr Single submitter ⚠
- p.Pro686Leu Single submitter ⚠
- p.Pro724Leu Single submitter ⚠
- p.Pro745Leu Single submitter ⚠
- p.Pro749Ala Single submitter ⚠
- p.Pro751Leu Single submitter ⚠
- p.Pro760His Single submitter ⚠
- p.Ser131Ile Single submitter ⚠
- p.Ser137Asn Single submitter ⚠
- p.Ser190Leu Single submitter ⚠
- p.Ser245Thr Single submitter ⚠
- p.Ser426Leu Single submitter ⚠
- p.Ser448Asn Single submitter ⚠
- p.Thr454Ile Single submitter ⚠
- p.Thr533Lys Single submitter ⚠
- p.Thr533Met Single submitter ⚠
- p.Thr581Ala Single submitter ⚠
- p.Thr730Ala Single submitter ⚠
- p.Thr797Met Single submitter ⚠
- p.Thr933Lys Single submitter ⚠
- p.Thr933Met Single submitter ⚠
- p.Tyr524His Single submitter ⚠
- p.Tyr58His Single submitter ⚠
- p.Val237Leu Single submitter ⚠
- p.Val33Met Single submitter ⚠
- p.Val45Ile Single submitter ⚠
- p.Val610Ala Single submitter ⚠
- p.Val611Met Single submitter ⚠
- p.Val682Ala Single submitter ⚠
- p.Val741Ala Single submitter ⚠
- p.Val802Ile Single submitter ⚠