CDHR5 — 202 ClinVar variants
All ClinVar germline CDHR5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →
2 Benign · 16 Likely benign · 184 Uncertain significance
Full CDHR5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 188
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDHR5 p.Ala151Pro Uncertain significance Single submitter
- CDHR5 p.Ala230Thr Uncertain significance Single submitter
- CDHR5 p.Ala347Val Uncertain significance Single submitter
- CDHR5 p.Ala398Thr Uncertain significance Single submitter
- CDHR5 p.Ala677Val Uncertain significance Single submitter
- CDHR5 p.Ala727Thr Uncertain significance Single submitter
- CDHR5 p.Ala727Val Uncertain significance Single submitter
- CDHR5 p.Ala739Thr Uncertain significance Single submitter
- CDHR5 p.Ala745Thr Uncertain significance Single submitter
- CDHR5 p.Ala765Asp Uncertain significance Single submitter
- CDHR5 p.Ala765Gly Uncertain significance Single submitter
- CDHR5 p.Ala808Val Uncertain significance Single submitter
- CDHR5 p.Arg196Gln Uncertain significance Single submitter
- CDHR5 p.Arg206Gln Uncertain significance Single submitter
- CDHR5 p.Arg334Cys Uncertain significance Single submitter
- CDHR5 p.Arg334His Uncertain significance Single submitter
- CDHR5 p.Arg662His Uncertain significance Single submitter
- CDHR5 p.Arg72Pro Uncertain significance Single submitter
- CDHR5 p.Asn181Ser Uncertain significance Single submitter
- CDHR5 p.Asp158Asn Uncertain significance Single submitter
- CDHR5 p.Asp173Asn Uncertain significance Single submitter
- CDHR5 p.Asp735Asn Uncertain significance Single submitter
- CDHR5 p.Asp735Val Uncertain significance Single submitter
- CDHR5 p.Asp814Gly Uncertain significance Single submitter
- CDHR5 p.Gln148His Uncertain significance Single submitter
- CDHR5 p.Gln285Arg Uncertain significance Single submitter
- CDHR5 p.Gln77Lys Uncertain significance Single submitter
- CDHR5 p.Glu56Gln Uncertain significance Single submitter
- CDHR5 p.Glu659Asp Uncertain significance Single submitter
- CDHR5 p.Glu785Gly Uncertain significance Single submitter
- CDHR5 p.Glu800Gln Uncertain significance Single submitter
- CDHR5 p.Gly255Arg Uncertain significance Single submitter
- CDHR5 p.Gly272Arg Uncertain significance Single submitter
- CDHR5 p.Gly413Glu Uncertain significance Single submitter
- CDHR5 p.Gly598Ser Uncertain significance Single submitter
- CDHR5 p.Gly656Ser Uncertain significance Single submitter
- CDHR5 p.Gly672Asp Uncertain significance Single submitter
- CDHR5 p.Gly769Arg Uncertain significance Single submitter
- CDHR5 p.Gly786Ser Uncertain significance Single submitter
- CDHR5 p.Gly822Ser Uncertain significance Single submitter
- CDHR5 p.Gly839Ser Uncertain significance Single submitter
- CDHR5 p.Ile36Met Uncertain significance Single submitter
- CDHR5 p.Leu309Phe Uncertain significance Single submitter
- CDHR5 p.Leu689Val Uncertain significance Single submitter
- CDHR5 p.Leu778Pro Uncertain significance Single submitter
- CDHR5 p.Lys789Glu Uncertain significance Single submitter
- CDHR5 p.Met199Val Uncertain significance Single submitter
- CDHR5 p.Phe175Val Uncertain significance Single submitter
- CDHR5 p.Pro10Arg Uncertain significance Single submitter
- CDHR5 p.Pro145Leu Uncertain significance Single submitter
- CDHR5 p.Pro239Leu Uncertain significance Single submitter
- CDHR5 p.Pro351Ala Uncertain significance Single submitter
- CDHR5 p.Pro484Ser Uncertain significance Single submitter
- CDHR5 p.Pro720Ser Uncertain significance Single submitter
- CDHR5 p.Ser306Trp Uncertain significance Single submitter
- CDHR5 p.Ser393Leu Uncertain significance Single submitter
- CDHR5 p.Ser585Arg Uncertain significance Single submitter
- CDHR5 p.Ser649Gly Uncertain significance Single submitter
- CDHR5 p.Ser658Leu Uncertain significance Single submitter
- CDHR5 p.Thr147Arg Uncertain significance Single submitter
- CDHR5 p.Thr241Ile Uncertain significance Single submitter
- CDHR5 p.Thr419Asn Uncertain significance Single submitter
- CDHR5 p.Thr478Ala Uncertain significance Single submitter
- CDHR5 p.Thr772Lys Uncertain significance Single submitter
- CDHR5 p.Tyr86Asn Uncertain significance Single submitter
- CDHR5 p.Val112Met Uncertain significance Single submitter
- CDHR5 p.Val143Ile Uncertain significance Single submitter
- CDHR5 p.Val257Ala Uncertain significance Single submitter
- CDHR5 p.Val415Ile Uncertain significance Single submitter
- CDHR5 p.Val54Ile Uncertain significance Single submitter
- CDHR5 p.Val791Gly Uncertain significance Single submitter
Predictors split 117
The independent predictors disagree with each other — read with care.
- CDHR5 p.Ala171Thr Uncertain significance Single submitter
- CDHR5 p.Ala364Val Uncertain significance Single submitter
- CDHR5 p.Ala369Val Uncertain significance Single submitter
- CDHR5 p.Ala430Thr Uncertain significance Single submitter
- CDHR5 p.Ala443Val Uncertain significance Single submitter
- CDHR5 p.Ala533Gly Uncertain significance Single submitter
- CDHR5 p.Ala669Val Uncertain significance Single submitter
- CDHR5 p.Ala670Asp Uncertain significance Single submitter
- CDHR5 p.Ala717Val Uncertain significance Single submitter
- CDHR5 p.Ala739Val Uncertain significance Single submitter
- CDHR5 p.Ala764Val Uncertain significance Single submitter
- CDHR5 p.Ala790Val Uncertain significance Single submitter
- CDHR5 p.Ala828Thr Uncertain significance Single submitter
- CDHR5 p.Ala828Val Uncertain significance Single submitter
- CDHR5 p.Arg154His Uncertain significance Single submitter
- CDHR5 p.Arg189Gln Likely benign Single submitter
- CDHR5 p.Arg189Trp Uncertain significance Single submitter
- CDHR5 p.Arg196Trp Likely benign Single submitter
- CDHR5 p.Arg270Cys Uncertain significance Single submitter
- CDHR5 p.Arg281Cys Uncertain significance Single submitter
- CDHR5 p.Arg353His Uncertain significance Single submitter
- CDHR5 p.Arg360His Uncertain significance Single submitter
- CDHR5 p.Arg662Cys Uncertain significance Single submitter
- CDHR5 p.Arg72Gln Uncertain significance Single submitter
- CDHR5 p.Arg72Trp Uncertain significance Single submitter
- CDHR5 p.Arg782Trp Uncertain significance Single submitter
- CDHR5 p.Arg783Gln Uncertain significance Single submitter
- CDHR5 p.Asn308Asp Uncertain significance Single submitter
- CDHR5 p.Asn526Tyr Uncertain significance Single submitter
- CDHR5 p.Asn715Lys Uncertain significance Single submitter
- CDHR5 p.Asp244His Uncertain significance Single submitter
- CDHR5 p.Asp331Asn Uncertain significance Single submitter
- CDHR5 p.Asp51Tyr Uncertain significance Single submitter
- CDHR5 p.Asp823Asn Uncertain significance Single submitter
- CDHR5 p.Cys701Trp Uncertain significance Single submitter
- CDHR5 p.Gln450Lys Uncertain significance Single submitter
- CDHR5 p.Gln549Arg Uncertain significance Single submitter
- CDHR5 p.Glu135Lys Uncertain significance Single submitter
- CDHR5 p.Glu448Lys Uncertain significance Single submitter
- CDHR5 p.Glu59Lys Uncertain significance Single submitter
- CDHR5 p.Glu795Lys Uncertain significance Single submitter
- CDHR5 p.Glu826Lys Uncertain significance Single submitter
- CDHR5 p.Gly260Glu Uncertain significance Single submitter
- CDHR5 p.Gly282Ser Uncertain significance Single submitter
- CDHR5 p.Gly413Arg Uncertain significance Single submitter
- CDHR5 p.Gly546Ala Uncertain significance Single submitter
- CDHR5 p.Gly554Ala Uncertain significance Single submitter
- CDHR5 p.Gly568Arg Uncertain significance Single submitter
- CDHR5 p.Gly569Ser Uncertain significance Single submitter
- CDHR5 p.Gly587Glu Uncertain significance Single submitter
- CDHR5 p.Gly608Arg Uncertain significance Single submitter
- CDHR5 p.Gly63Ala Uncertain significance Single submitter
- CDHR5 p.Gly656Asp Uncertain significance Single submitter
- CDHR5 p.Gly673Val Uncertain significance Single submitter
- CDHR5 p.Gly676Ser Uncertain significance Single submitter
- CDHR5 p.Ile447Thr Uncertain significance Single submitter
- CDHR5 p.Leu204Pro Uncertain significance Single submitter
- CDHR5 p.Leu332Pro Uncertain significance Single submitter
- CDHR5 p.Lys737Asn Uncertain significance Single submitter
- CDHR5 p.Met24Ile Uncertain significance Single submitter
- CDHR5 p.Met319Ile Uncertain significance Single submitter
- CDHR5 p.Met613Ile Uncertain significance Single submitter
- CDHR5 p.Pro209Leu Uncertain significance Single submitter
- CDHR5 p.Pro21Arg Uncertain significance Single submitter
- CDHR5 p.Pro351Leu Likely benign Single submitter
- CDHR5 p.Pro463Gln Uncertain significance Single submitter
- CDHR5 p.Pro473His Uncertain significance Single submitter
- CDHR5 p.Pro485Ala Uncertain significance Single submitter
- CDHR5 p.Pro48Leu Uncertain significance Single submitter
- CDHR5 p.Pro491His Uncertain significance Single submitter
- CDHR5 p.Pro505Leu Uncertain significance Single submitter
- CDHR5 p.Pro543Ala Uncertain significance Single submitter
- CDHR5 p.Pro581Leu Uncertain significance Single submitter
- CDHR5 p.Pro594Ala Uncertain significance Single submitter
- CDHR5 p.Pro597Leu Uncertain significance Single submitter
- CDHR5 p.Pro612Leu Uncertain significance Single submitter
- CDHR5 p.Pro645Ser Uncertain significance Single submitter
- CDHR5 p.Pro68His Uncertain significance Single submitter
- CDHR5 p.Pro706Leu Likely benign Single submitter
- CDHR5 p.Pro730His Uncertain significance Single submitter
- CDHR5 p.Pro755Ser Uncertain significance Single submitter
- CDHR5 p.Ser265Phe Uncertain significance Single submitter
- CDHR5 p.Ser407Leu Uncertain significance Single submitter
- CDHR5 p.Ser515Leu Uncertain significance Single submitter
- CDHR5 p.Ser548Phe Uncertain significance Single submitter
- CDHR5 p.Ser731Arg Uncertain significance Single submitter
- CDHR5 p.Thr137Met Uncertain significance Single submitter
- CDHR5 p.Thr147Met Uncertain significance Single submitter
- CDHR5 p.Thr218Ile Uncertain significance Single submitter
- CDHR5 p.Thr222Ser Uncertain significance Single submitter
- CDHR5 p.Thr259Met Uncertain significance Single submitter
- CDHR5 p.Thr470Lys Uncertain significance Single submitter
- CDHR5 p.Thr477Ile Uncertain significance Single submitter
- CDHR5 p.Thr493Lys Uncertain significance Single submitter
- CDHR5 p.Thr508Ile Uncertain significance Single submitter
- CDHR5 p.Thr514Asn Uncertain significance Single submitter
- CDHR5 p.Thr517Ile Uncertain significance Single submitter
- CDHR5 p.Thr517Lys Uncertain significance Single submitter
- CDHR5 p.Thr528Ile Uncertain significance Single submitter
- CDHR5 p.Thr542Asn Uncertain significance Single submitter
- CDHR5 p.Thr559Ala Uncertain significance Single submitter
- CDHR5 p.Thr570Ile Uncertain significance Single submitter
- CDHR5 p.Thr626Pro Uncertain significance Single submitter
- CDHR5 p.Thr733Met Uncertain significance Single submitter
- CDHR5 p.Thr779Asn Uncertain significance Single submitter
- CDHR5 p.Val105Met Uncertain significance Single submitter
- CDHR5 p.Val133Ala Uncertain significance Single submitter
- CDHR5 p.Val296Met Uncertain significance Single submitter
- CDHR5 p.Val325Leu Uncertain significance Single submitter
- CDHR5 p.Val342Met Uncertain significance Single submitter
- CDHR5 p.Val372Leu Uncertain significance Single submitter
- CDHR5 p.Val373Ala Uncertain significance Single submitter
- CDHR5 p.Val39Glu Uncertain significance Single submitter
- CDHR5 p.Val481Ile Uncertain significance Single submitter
- CDHR5 p.Val729Ile Uncertain significance Single submitter
- CDHR5 p.Val803Met Uncertain significance Single submitter
- CDHR5 p.Val82Glu Uncertain significance Single submitter
All CDHR5 variants
Benign 2
- p.Arg182His Multiple submitters
- p.Gly298= Multiple submitters
Likely benign 16
- p.Ala808Thr Single submitter
- p.Arg189Gln Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Asp278= Single submitter
- p.Glu195Lys Single submitter
- p.Gly751Ser Single submitter
- p.Gly757Ser Single submitter
- p.His734Pro Single submitter
- p.Pro351Leu Single submitter ⚠
- p.Pro706Leu Single submitter ⚠
- p.Pro742= Single submitter
- p.Pro761Ser Single submitter
- p.Ser585Gly Single submitter
- p.Tyr174Phe Single submitter
- p.Val315Ile Single submitter
- p.Val688Ile Single submitter
Uncertain significance 184
- p.Ala151Pro Single submitter ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala230Thr Single submitter ⚠
- p.Ala347Val Single submitter ⚠
- p.Ala364Val Single submitter ⚠
- p.Ala369Val Single submitter ⚠
- p.Ala398Thr Single submitter ⚠
- p.Ala430Thr Single submitter ⚠
- p.Ala443Val Single submitter ⚠
- p.Ala533Gly Single submitter ⚠
- p.Ala669Val Single submitter ⚠
- p.Ala670Asp Single submitter ⚠
- p.Ala677Val Single submitter ⚠
- p.Ala717Val Single submitter ⚠
- p.Ala727Thr Single submitter ⚠
- p.Ala727Val Single submitter ⚠
- p.Ala739Thr Single submitter ⚠
- p.Ala739Val Single submitter ⚠
- p.Ala745Thr Single submitter ⚠
- p.Ala764Val Single submitter ⚠
- p.Ala765Asp Single submitter ⚠
- p.Ala765Gly Single submitter ⚠
- p.Ala790Val Single submitter ⚠
- p.Ala808Val Single submitter ⚠
- p.Ala828Thr Single submitter ⚠
- p.Ala828Val Single submitter ⚠
- p.Arg154His Single submitter ⚠
- p.Arg189Trp Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg206Gln Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg281Cys Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg334His Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg662Cys Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Arg72Pro Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Arg782Trp Single submitter ⚠
- p.Arg783Gln Single submitter ⚠
- p.Asn181Ser Single submitter ⚠
- p.Asn308Asp Single submitter ⚠
- p.Asn526Tyr Single submitter ⚠
- p.Asn715Lys Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp244His Single submitter ⚠
- p.Asp331Asn Single submitter ⚠
- p.Asp51Tyr Single submitter ⚠
- p.Asp735Asn Single submitter ⚠
- p.Asp735Val Single submitter ⚠
- p.Asp814Gly Single submitter ⚠
- p.Asp823Asn Single submitter ⚠
- p.Cys701Trp Single submitter ⚠
- p.Gln148His Single submitter ⚠
- p.Gln285Arg Single submitter ⚠
- p.Gln450Lys Single submitter ⚠
- p.Gln549Arg Single submitter ⚠
- p.Gln77Lys Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu448Lys Single submitter ⚠
- p.Glu56Gln Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Glu659Asp Single submitter ⚠
- p.Glu785Gly Single submitter ⚠
- p.Glu795Lys Single submitter ⚠
- p.Glu800Gln Single submitter ⚠
- p.Glu826Lys Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly260Glu Single submitter ⚠
- p.Gly272Arg Single submitter ⚠
- p.Gly282Ser Single submitter ⚠
- p.Gly413Arg Single submitter ⚠
- p.Gly413Glu Single submitter ⚠
- p.Gly546Ala Single submitter ⚠
- p.Gly554Ala Single submitter ⚠
- p.Gly568Arg Single submitter ⚠
- p.Gly569Ser Single submitter ⚠
- p.Gly587Glu Single submitter ⚠
- p.Gly598Ser Single submitter ⚠
- p.Gly608Arg Single submitter ⚠
- p.Gly63Ala Single submitter ⚠
- p.Gly656Asp Single submitter ⚠
- p.Gly656Ser Single submitter ⚠
- p.Gly672Asp Single submitter ⚠
- p.Gly673Val Single submitter ⚠
- p.Gly676Ser Single submitter ⚠
- p.Gly769Arg Single submitter ⚠
- p.Gly786Ser Single submitter ⚠
- p.Gly822Ser Single submitter ⚠
- p.Gly839Ser Single submitter ⚠
- p.Ile36Met Single submitter ⚠
- p.Ile447Thr Single submitter ⚠
- p.Leu204Pro Single submitter ⚠
- p.Leu309Phe Single submitter ⚠
- p.Leu332Pro Single submitter ⚠
- p.Leu689Val Single submitter ⚠
- p.Leu778Pro Single submitter ⚠
- p.Lys737Asn Single submitter ⚠
- p.Lys789Glu Single submitter ⚠
- p.Met199Val Single submitter ⚠
- p.Met24Ile Single submitter ⚠
- p.Met319Ile Single submitter ⚠
- p.Met613Ile Single submitter ⚠
- p.Phe175Val Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro209Leu Single submitter ⚠
- p.Pro21Arg Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Pro351Ala Single submitter ⚠
- p.Pro463Gln Single submitter ⚠
- p.Pro473His Single submitter ⚠
- p.Pro484Ser Single submitter ⚠
- p.Pro485Ala Single submitter ⚠
- p.Pro48Leu Single submitter ⚠
- p.Pro491His Single submitter ⚠
- p.Pro505Leu Single submitter ⚠
- p.Pro543Ala Single submitter ⚠
- p.Pro581Leu Single submitter ⚠
- p.Pro594Ala Single submitter ⚠
- p.Pro597Leu Single submitter ⚠
- p.Pro612Leu Single submitter ⚠
- p.Pro645Ser Single submitter ⚠
- p.Pro68His Single submitter ⚠
- p.Pro720Ser Single submitter ⚠
- p.Pro730His Single submitter ⚠
- p.Pro755Ser Single submitter ⚠
- p.Ser265Phe Single submitter ⚠
- p.Ser306Trp Single submitter ⚠
- p.Ser393Leu Single submitter ⚠
- p.Ser407Leu Single submitter ⚠
- p.Ser515Leu Single submitter ⚠
- p.Ser548Phe Single submitter ⚠
- p.Ser585Arg Single submitter ⚠
- p.Ser649Gly Single submitter ⚠
- p.Ser658Leu Single submitter ⚠
- p.Ser731Arg Single submitter ⚠
- p.Thr137Met Single submitter ⚠
- p.Thr147Arg Single submitter ⚠
- p.Thr147Met Single submitter ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr222Ser Single submitter ⚠
- p.Thr241Ile Single submitter ⚠
- p.Thr259Met Single submitter ⚠
- p.Thr419Asn Single submitter ⚠
- p.Thr470Lys Single submitter ⚠
- p.Thr477Ile Single submitter ⚠
- p.Thr478Ala Single submitter ⚠
- p.Thr493Lys Single submitter ⚠
- p.Thr508Ile Single submitter ⚠
- p.Thr514Asn Single submitter ⚠
- p.Thr517Ile Single submitter ⚠
- p.Thr517Lys Single submitter ⚠
- p.Thr528Ile Single submitter ⚠
- p.Thr542Asn Single submitter ⚠
- p.Thr559Ala Single submitter ⚠
- p.Thr570Ile Single submitter ⚠
- p.Thr626Pro Single submitter ⚠
- p.Thr733Met Single submitter ⚠
- p.Thr772Lys Single submitter ⚠
- p.Thr779Asn Single submitter ⚠
- p.Tyr86Asn Single submitter ⚠
- p.Val105Met Single submitter ⚠
- p.Val112Met Single submitter ⚠
- p.Val133Ala Single submitter ⚠
- p.Val143Ile Single submitter ⚠
- p.Val257Ala Single submitter ⚠
- p.Val296Met Single submitter ⚠
- p.Val325Leu Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val372Leu Single submitter ⚠
- p.Val373Ala Single submitter ⚠
- p.Val39Glu Single submitter ⚠
- p.Val415Ile Single submitter ⚠
- p.Val481Ile Single submitter ⚠
- p.Val54Ile Single submitter ⚠
- p.Val729Ile Single submitter ⚠
- p.Val791Gly Single submitter ⚠
- p.Val803Met Single submitter ⚠
- p.Val82Glu Single submitter ⚠