CD207 — 64 ClinVar variants
All ClinVar germline CD207 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
10 Benign · 5 Likely benign · 49 Uncertain significance
Full CD207 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD207 p.Ala10Val Uncertain significance Single submitter
- CD207 p.Ala135Thr Uncertain significance Single submitter
- CD207 p.Ala55Thr Uncertain significance Single submitter
- CD207 p.Ala7Ser Uncertain significance Single submitter
- CD207 p.Arg172Trp Uncertain significance Single submitter
- CD207 p.Asn273Ser Uncertain significance Single submitter
- CD207 p.Asn77His Uncertain significance Single submitter
- CD207 p.Glu145Lys Uncertain significance Single submitter
- CD207 p.Glu327Ala Uncertain significance Single submitter
- CD207 p.Gly31Ser Uncertain significance Single submitter
- CD207 p.His294Pro Uncertain significance Single submitter
- CD207 p.Ile191Met Uncertain significance Single submitter
- CD207 p.Ile19Phe Uncertain significance Single submitter
- CD207 p.Leu211Val Uncertain significance Single submitter
- CD207 p.Leu249Ile Uncertain significance Single submitter
- CD207 p.Lys16Gln Uncertain significance Single submitter
- CD207 p.Lys203Thr Uncertain significance Single submitter
- CD207 p.Lys38Glu Uncertain significance Single submitter
- CD207 p.Lys75Asn Uncertain significance Single submitter
- CD207 p.Met260Ile Uncertain significance Single submitter
- CD207 p.Thr128Ala Uncertain significance Single submitter
- CD207 p.Thr149Ala Uncertain significance Single submitter
- CD207 p.Thr90Ile Uncertain significance Single submitter
-
CD207 p.Trp264Arg
Uncertain significance
Single submitter
Birbeck granule deficiency
- CD207 p.Tyr323His Uncertain significance Single submitter
- CD207 p.Val107Ile Uncertain significance Single submitter
- CD207 p.Val119Met Uncertain significance Single submitter
- CD207 p.Val195Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CD207 p.Ala152Val Uncertain significance Single submitter
- CD207 p.Ala246Glu Uncertain significance Single submitter
- CD207 p.Ala246Val Uncertain significance Single submitter
- CD207 p.Arg120Cys Uncertain significance Single submitter
- CD207 p.Arg321Gln Uncertain significance Single submitter
- CD207 p.Arg321Leu Uncertain significance Single submitter
- CD207 p.Arg43His Uncertain significance Single submitter
- CD207 p.Arg84Cys Uncertain significance Single submitter
- CD207 p.Asn180Ile Uncertain significance Single submitter
- CD207 p.Asn287Ser Uncertain significance Single submitter
- CD207 p.Gln122Arg Uncertain significance Single submitter
- CD207 p.Gln79Arg Uncertain significance Single submitter
- CD207 p.Gly248Val Uncertain significance Single submitter
- CD207 p.Gly262Arg Uncertain significance Single submitter
- CD207 p.Ile171Thr Uncertain significance Single submitter
- CD207 p.Pro283Leu Uncertain significance Single submitter
- CD207 p.Thr270Met Uncertain significance Single submitter
- CD207 p.Thr50Met Uncertain significance Single submitter
- CD207 p.Tyr323Cys Uncertain significance Single submitter
- CD207 p.Val130Gly Uncertain significance Single submitter
All CD207 variants
Benign 10
- p.Arg66Gln Multiple submitters
- p.Glu25Glyfs Single submitter
- p.Ala55Val No assertion criteria CD207-related disorder
- p.Gln136Glu No assertion criteria CD207-related disorder
- p.Glu114Val No assertion criteria CD207-related disorder
- p.Pro328= No assertion criteria CD207-related disorder
- p.Ser237= No assertion criteria CD207-related disorder
- p.Thr314= No assertion criteria CD207-related disorder
- p.Val278Ala No assertion criteria CD207-related disorder
- p.Val78= No assertion criteria CD207-related disorder
Likely benign 5
- p.Arg187Gln Single submitter
- p.Arg66Trp Single submitter
- p.Gly176Ser Single submitter
- p.Met111Thr Single submitter
- p.Ala61= No assertion criteria CD207-related disorder
Uncertain significance 49
- p.Ala10Val Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala152Val Single submitter ⚠
- p.Ala246Glu Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Arg120Cys Single submitter ⚠
- p.Arg172Trp Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg321Leu Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Asn134= Single submitter Birbeck granule deficiency
- p.Asn180Ile Single submitter ⚠
- p.Asn273Ser Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asn77His Single submitter ⚠
- p.Gln122Arg Single submitter ⚠
- p.Gln79Arg Single submitter ⚠
- p.Glu145Lys Single submitter ⚠
- p.Glu327Ala Single submitter ⚠
- p.Gly248Val Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Gly31Ser Single submitter ⚠
- p.His294Pro Single submitter ⚠
- p.Ile171Thr Single submitter ⚠
- p.Ile191Met Single submitter ⚠
- p.Ile19Phe Single submitter ⚠
- p.Leu211Val Single submitter ⚠
- p.Leu249Ile Single submitter ⚠
- p.Lys16Gln Single submitter ⚠
- p.Lys203Thr Single submitter ⚠
- p.Lys38Glu Single submitter ⚠
- p.Lys75Asn Single submitter ⚠
- p.Met260Ile Single submitter ⚠
- p.Pro283Leu Single submitter ⚠
- p.Thr128Ala Single submitter ⚠
- p.Thr149Ala Single submitter ⚠
- p.Thr270Met Single submitter ⚠
- p.Thr50Met Single submitter ⚠
- p.Thr90Ile Single submitter ⚠
- p.Trp264Arg Single submitter Birbeck granule deficiency ⚠
- p.Tyr323Cys Single submitter ⚠
- p.Tyr323His Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val119Met Single submitter ⚠
- p.Val130Gly Single submitter ⚠
- p.Val195Ala Single submitter ⚠