APCDD1 — 165 ClinVar variants
All ClinVar germline APCDD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
1 Pathogenic · 33 Benign · 1 Benign/Likely benign · 24 Likely benign · 106 Uncertain significance
Full APCDD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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APCDD1 p.Leu9Arg
Pathogenic
No assertion criteria
hypotrichosis 1
Predictors lean, ClinVar uncertain 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APCDD1 p.Ala176Thr Uncertain significance Multiple submitters
- APCDD1 p.Ala343Thr Uncertain significance Multiple submitters
- APCDD1 p.Arg169His Uncertain significance Multiple submitters
- APCDD1 p.Arg213Gln Uncertain significance Multiple submitters
- APCDD1 p.Arg303Cys Uncertain significance Multiple submitters
-
APCDD1 p.Arg432Gln
Uncertain significance
Multiple submitters
hypotrichosis 1
- APCDD1 p.Glu393Lys Uncertain significance Multiple submitters
- APCDD1 p.Glu421Val Uncertain significance Multiple submitters
-
APCDD1 p.Gly293Arg
Uncertain significance
Multiple submitters
hypotrichosis 1
- APCDD1 p.Pro252Ala Uncertain significance Multiple submitters
- APCDD1 p.Thr141Met Uncertain significance Multiple submitters
- APCDD1 p.Ala266Thr Uncertain significance Single submitter
- APCDD1 p.Ala376Val Uncertain significance Single submitter
- APCDD1 p.Ala431Thr Uncertain significance Single submitter
- APCDD1 p.Ala488Val Uncertain significance Single submitter
- APCDD1 p.Arg114Gln Uncertain significance Single submitter
- APCDD1 p.Arg114Trp Uncertain significance Single submitter
- APCDD1 p.Arg125Gln Uncertain significance Single submitter
- APCDD1 p.Arg138Gln Uncertain significance Single submitter
- APCDD1 p.Arg191Gln Uncertain significance Single submitter
- APCDD1 p.Arg246Trp Uncertain significance Single submitter
- APCDD1 p.Arg268Gly Uncertain significance Single submitter
- APCDD1 p.Arg272Gln Uncertain significance Single submitter
- APCDD1 p.Arg346Cys Uncertain significance Single submitter
- APCDD1 p.Arg346His Uncertain significance Single submitter
- APCDD1 p.Arg355Ser Uncertain significance Single submitter
- APCDD1 p.Arg487Trp Uncertain significance Single submitter
- APCDD1 p.Arg513His Uncertain significance Single submitter
- APCDD1 p.Arg513Ser Uncertain significance Single submitter
- APCDD1 p.Asn61Ser Uncertain significance Single submitter
- APCDD1 p.Asp144Glu Uncertain significance Single submitter
- APCDD1 p.Gln298Pro Uncertain significance Single submitter
- APCDD1 p.Gln397Arg Uncertain significance Single submitter
- APCDD1 p.Glu161Lys Uncertain significance Single submitter
- APCDD1 p.Glu192Gln Uncertain significance Single submitter
- APCDD1 p.Glu275Gly Uncertain significance Single submitter
- APCDD1 p.Glu421Lys Uncertain significance Single submitter
- APCDD1 p.Glu74Lys Uncertain significance Single submitter
- APCDD1 p.Gly178Arg Uncertain significance Single submitter
- APCDD1 p.Gly195Ser Uncertain significance Single submitter
- APCDD1 p.Gly24Ser Uncertain significance Single submitter
- APCDD1 p.Gly290Ser Uncertain significance Single submitter
- APCDD1 p.Gly387Arg Uncertain significance Single submitter
- APCDD1 p.Gly399Ser Uncertain significance Single submitter
-
APCDD1 p.Gly446Arg
Uncertain significance
Single submitter
hypotrichosis 1
- APCDD1 p.Gly446Glu Uncertain significance Single submitter
- APCDD1 p.Gly81Asp Uncertain significance Single submitter
- APCDD1 p.His368Leu Uncertain significance Single submitter
- APCDD1 p.Ile265Val Uncertain significance Single submitter
- APCDD1 p.Ile415Val Uncertain significance Single submitter
- APCDD1 p.Ile65Met Uncertain significance Single submitter
- APCDD1 p.Leu484Pro Uncertain significance Single submitter
- APCDD1 p.Met461Val Uncertain significance Single submitter
- APCDD1 p.Phe204Ser Uncertain significance Single submitter
- APCDD1 p.Phe90Val Uncertain significance Single submitter
- APCDD1 p.Pro252Thr Uncertain significance Single submitter
- APCDD1 p.Pro471Leu Uncertain significance Single submitter
- APCDD1 p.Pro4Ser Uncertain significance Single submitter
- APCDD1 p.Ser248Phe Uncertain significance Single submitter
- APCDD1 p.Ser2Pro Uncertain significance Single submitter
- APCDD1 p.Thr240Ala Uncertain significance Single submitter
- APCDD1 p.Thr288Ile Uncertain significance Single submitter
- APCDD1 p.Thr92Arg Uncertain significance Single submitter
- APCDD1 p.Trp322Arg Uncertain significance Single submitter
- APCDD1 p.Tyr250His Uncertain significance Single submitter
- APCDD1 p.Tyr271Cys Uncertain significance Single submitter
- APCDD1 p.Val356Ile Uncertain significance Single submitter
- APCDD1 p.Val366Ala Uncertain significance Single submitter
- APCDD1 p.Val384Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- APCDD1 p.Arg344Trp Uncertain significance Multiple submitters
- APCDD1 p.His225Pro Uncertain significance Multiple submitters
-
APCDD1 p.Leu8Val
Uncertain significance
Multiple submitters
hypotrichosis 1
- APCDD1 p.Ala158Val Uncertain significance Single submitter
- APCDD1 p.Arg129Cys Uncertain significance Single submitter
- APCDD1 p.Arg131His Uncertain significance Single submitter
- APCDD1 p.Arg169Cys Uncertain significance Single submitter
- APCDD1 p.Arg299His Uncertain significance Single submitter
- APCDD1 p.Arg344Gln Uncertain significance Single submitter
- APCDD1 p.Arg349Cys Uncertain significance Single submitter
- APCDD1 p.Arg434His Uncertain significance Single submitter
- APCDD1 p.Asn320Thr Uncertain significance Single submitter
- APCDD1 p.Asp261Tyr Uncertain significance Single submitter
- APCDD1 p.Asp445Asn Uncertain significance Single submitter
- APCDD1 p.Gln429His Uncertain significance Single submitter
- APCDD1 p.Glu305Lys Uncertain significance Single submitter
- APCDD1 p.Gly173Val Uncertain significance Single submitter
- APCDD1 p.Gly350Ser Uncertain significance Single submitter
- APCDD1 p.Gly399Ala Uncertain significance Single submitter
- APCDD1 p.His148Tyr Uncertain significance Single submitter
- APCDD1 p.His207Tyr Uncertain significance Single submitter
- APCDD1 p.Ile124Met Uncertain significance Single submitter
- APCDD1 p.Ile314Thr Uncertain significance Single submitter
- APCDD1 p.Leu147Val Uncertain significance Single submitter
- APCDD1 p.Leu230Val Uncertain significance Single submitter
- APCDD1 p.Leu27Phe Uncertain significance Single submitter
- APCDD1 p.Leu56Phe Uncertain significance Single submitter
- APCDD1 p.Lys454Glu Uncertain significance Single submitter
- APCDD1 p.Lys57Ile Uncertain significance Single submitter
- APCDD1 p.Pro172Leu Uncertain significance Single submitter
- APCDD1 p.Pro247Ser Uncertain significance Single submitter
- APCDD1 p.Ser468Phe Uncertain significance Single submitter
- APCDD1 p.Ser495Cys Uncertain significance Single submitter
- APCDD1 p.Thr170Ile Uncertain significance Single submitter
- APCDD1 p.Thr237Ala Uncertain significance Single submitter
- APCDD1 p.Thr420Met Likely benign Single submitter
- APCDD1 p.Val167Met Uncertain significance Single submitter
- APCDD1 p.Val214Gly Uncertain significance Single submitter
All APCDD1 variants
Benign 33
- c.1096+76G>A Multiple submitters
- c.58+41A>G Multiple submitters
- c.58+97C>T Multiple submitters
- c.59-139A>G Multiple submitters
- c.59-13C>T Multiple submitters
- c.59-151A>G Multiple submitters
- c.775-102T>C Multiple submitters
- c.775-90G>A Multiple submitters
- c.775-96T>C Multiple submitters
- c.-19C>G Multiple submitters
- c.*29C>T Multiple submitters
- c.*56G>T Multiple submitters
- p.Ala160= Multiple submitters
- p.Arg432= Multiple submitters
- p.Cys503= Multiple submitters
- p.Leu163= Multiple submitters
- p.Leu476= Multiple submitters
- p.Ser273= Multiple submitters
- p.Val150Ile Multiple submitters
- c.1097-144T>C Single submitter
- c.1097-234A>G Single submitter
- c.243-243A>C Single submitter
- c.243-6G>A Single submitter
- c.774+16G>A Single submitter
- c.775-209A>G Single submitter
- p.Ala500= Single submitter
- p.Ala63= Single submitter
- p.Arg349His Single submitter
- p.Arg487Gln Single submitter
- p.Gly350= Single submitter
- p.His76= Single submitter
- p.Tyr250= Single submitter
- p.Val351Ile Single submitter
Benign/Likely benign 1
- p.Ile289Val Multiple submitters
Likely benign 24
- c.243-5C>T Single submitter
- p.Ala392= Single submitter
- p.Asn194= Single submitter
- p.Asp177= Single submitter
- p.Asp184= Single submitter
- p.Asp445= Single submitter
- p.Cys410= Single submitter
- p.Glu361= Single submitter
- p.Gly195Asp Single submitter hypotrichosis 1
- p.His260= Single submitter
- p.His292= Single submitter
- p.Pro332= Single submitter
- p.Pro443= Single submitter
- p.Ser353Leu Single submitter
- p.Ser444Arg Single submitter
- p.Ser470= Single submitter
- p.Ser50= Single submitter
- p.Thr170= Single submitter
- p.Thr407= Single submitter
- p.Thr420Met Single submitter ⚠
- p.Thr493Ala Single submitter
- p.Tyr342= Single submitter
- p.Tyr347= Single submitter
- p.Glu193del No assertion criteria APCDD1-related disorder
Uncertain significance 106
- p.Ala176Thr Multiple submitters ⚠
- p.Ala343Thr Multiple submitters ⚠
- p.Arg169His Multiple submitters ⚠
- p.Arg213Gln Multiple submitters ⚠
- p.Arg303Cys Multiple submitters ⚠
- p.Arg344Trp Multiple submitters ⚠
- p.Arg432Gln Multiple submitters hypotrichosis 1 ⚠
- p.Glu393Lys Multiple submitters ⚠
- p.Glu421Val Multiple submitters ⚠
- p.Gly293Arg Multiple submitters hypotrichosis 1 ⚠
- p.His225Pro Multiple submitters ⚠
- p.Leu8Val Multiple submitters hypotrichosis 1 ⚠
- p.Pro252Ala Multiple submitters ⚠
- p.Thr141Met Multiple submitters ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala376Val Single submitter ⚠
- p.Ala431Thr Single submitter ⚠
- p.Ala488Val Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg114Trp Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg129Cys Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg191Gln Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg268Gly Single submitter ⚠
- p.Arg272Gln Single submitter ⚠
- p.Arg299His Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg349Cys Single submitter ⚠
- p.Arg355Ser Single submitter ⚠
- p.Arg434His Single submitter ⚠
- p.Arg487Trp Single submitter ⚠
- p.Arg513His Single submitter ⚠
- p.Arg513Ser Single submitter ⚠
- p.Asn320Thr Single submitter ⚠
- p.Asn61Ser Single submitter ⚠
- p.Asp144Glu Single submitter ⚠
- p.Asp261Tyr Single submitter ⚠
- p.Asp445Asn Single submitter ⚠
- p.Gln298Pro Single submitter ⚠
- p.Gln397Arg Single submitter ⚠
- p.Gln429His Single submitter ⚠
- p.Glu161Lys Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu275Gly Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Gly173Val Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly195Ser Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly290Ser Single submitter ⚠
- p.Gly350Ser Single submitter ⚠
- p.Gly387Arg Single submitter ⚠
- p.Gly399Ala Single submitter ⚠
- p.Gly399Ser Single submitter ⚠
- p.Gly446Arg Single submitter hypotrichosis 1 ⚠
- p.Gly446Glu Single submitter ⚠
- p.Gly81Asp Single submitter ⚠
- p.His148Tyr Single submitter ⚠
- p.His207Tyr Single submitter ⚠
- p.His368Leu Single submitter ⚠
- p.Ile124Met Single submitter ⚠
- p.Ile265Val Single submitter ⚠
- p.Ile314Thr Single submitter ⚠
- p.Ile415Val Single submitter ⚠
- p.Ile65Met Single submitter ⚠
- p.Leu147Val Single submitter ⚠
- p.Leu230Val Single submitter ⚠
- p.Leu27Phe Single submitter ⚠
- p.Leu484Pro Single submitter ⚠
- p.Leu56Phe Single submitter ⚠
- p.Lys454Glu Single submitter ⚠
- p.Lys57Ile Single submitter ⚠
- p.Met461Val Single submitter ⚠
- p.Phe204Ser Single submitter ⚠
- p.Phe90Val Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Pro247Ser Single submitter ⚠
- p.Pro252Thr Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Ser248Phe Single submitter ⚠
- p.Ser2Pro Single submitter ⚠
- p.Ser468Phe Single submitter ⚠
- p.Ser495Cys Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr237Ala Single submitter ⚠
- p.Thr240Ala Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Thr92Arg Single submitter ⚠
- p.Trp322Arg Single submitter ⚠
- p.Tyr250His Single submitter ⚠
- p.Tyr271Cys Single submitter ⚠
- p.Val167Met Single submitter ⚠
- p.Val214Gly Single submitter ⚠
- p.Val356Ile Single submitter ⚠
- p.Val366Ala Single submitter ⚠
- p.Val384Ile Single submitter ⚠