CD6 — 106 ClinVar variants
All ClinVar germline CD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
12 Benign · 9 Likely benign · 85 Uncertain significance
Full CD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD6 p.Ala160Val Uncertain significance Single submitter
- CD6 p.Ala235Thr Uncertain significance Single submitter
- CD6 p.Ala311Glu Uncertain significance Single submitter
- CD6 p.Ala431Asp Uncertain significance Single submitter
- CD6 p.Ala78Thr Uncertain significance Single submitter
- CD6 p.Arg220Ser Uncertain significance Single submitter
- CD6 p.Arg266Leu Uncertain significance Single submitter
- CD6 p.Arg273His Uncertain significance Single submitter
- CD6 p.Arg364Gln Uncertain significance Single submitter
- CD6 p.Arg507Gln Uncertain significance Single submitter
- CD6 p.Arg509Gln Uncertain significance Single submitter
- CD6 p.Arg592Thr Uncertain significance Single submitter
- CD6 p.Arg77Ser Uncertain significance Single submitter
- CD6 p.Asn49Ser Uncertain significance Single submitter
- CD6 p.Asn541Lys Uncertain significance Single submitter
- CD6 p.Cys545Arg Uncertain significance Single submitter
- CD6 p.Gln471Arg Uncertain significance Single submitter
- CD6 p.Gln608Lys Uncertain significance Single submitter
- CD6 p.Glu35Val Uncertain significance Single submitter
- CD6 p.Glu476Lys Uncertain significance Single submitter
- CD6 p.Glu642Asp Uncertain significance Single submitter
- CD6 p.Glu80Asp Uncertain significance Single submitter
- CD6 p.Gly148Arg Uncertain significance Single submitter
- CD6 p.Gly166Arg Uncertain significance Single submitter
- CD6 p.Gly221Arg Uncertain significance Single submitter
- CD6 p.Gly324Ser Uncertain significance Single submitter
- CD6 p.Gly569Glu Uncertain significance Single submitter
- CD6 p.Gly614Glu Uncertain significance Single submitter
- CD6 p.His536Asn Uncertain significance Single submitter
- CD6 p.Leu121Val Uncertain significance Single submitter
- CD6 p.Leu161Arg Uncertain significance Single submitter
- CD6 p.Leu424Ser Uncertain significance Single submitter
- CD6 p.Lys316Arg Uncertain significance Single submitter
- CD6 p.Lys427Arg Uncertain significance Single submitter
- CD6 p.Met176Ile Uncertain significance Single submitter
- CD6 p.Met400Ile Uncertain significance Single submitter
- CD6 p.Pro106Ala Uncertain significance Single submitter
- CD6 p.Pro212Ser Uncertain significance Single submitter
- CD6 p.Pro39Arg Uncertain significance Single submitter
- CD6 p.Pro39Thr Uncertain significance Single submitter
- CD6 p.Pro446Leu Uncertain significance Single submitter
- CD6 p.Pro558Gln Uncertain significance Single submitter
- CD6 p.Pro558Leu Uncertain significance Single submitter
- CD6 p.Pro615Thr Uncertain significance Single submitter
- CD6 p.Pro639Leu Uncertain significance Single submitter
- CD6 p.Pro647Ala Uncertain significance Single submitter
- CD6 p.Ser146Asn Uncertain significance Single submitter
- CD6 p.Ser620Thr Uncertain significance Single submitter
- CD6 p.Ser76Thr Uncertain significance Single submitter
- CD6 p.Thr458Ala Uncertain significance Single submitter
- CD6 p.Thr511Arg Uncertain significance Single submitter
- CD6 p.Tyr328Phe Uncertain significance Single submitter
- CD6 p.Val374Ile Uncertain significance Single submitter
- CD6 p.Val407Leu Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- CD6 p.Ala151Val Uncertain significance Single submitter
- CD6 p.Ala22Asp Uncertain significance Single submitter
- CD6 p.Arg266His Uncertain significance Single submitter
- CD6 p.Arg343Trp Uncertain significance Single submitter
- CD6 p.Arg507Trp Uncertain significance Single submitter
- CD6 p.Arg509Trp Uncertain significance Single submitter
- CD6 p.Arg84Gln Uncertain significance Single submitter
- CD6 p.Asn574Ser Uncertain significance Single submitter
- CD6 p.Glu41Lys Uncertain significance Single submitter
- CD6 p.Gly131Arg Uncertain significance Single submitter
- CD6 p.Gly167Val Uncertain significance Single submitter
- CD6 p.Gly180Asp Uncertain significance Single submitter
- CD6 p.Gly203Asp Uncertain significance Single submitter
- CD6 p.Gly409Val Uncertain significance Single submitter
- CD6 p.Gly6Arg Uncertain significance Single submitter
- CD6 p.His262Gln Uncertain significance Single submitter
- CD6 p.Leu15Pro Uncertain significance Single submitter
- CD6 p.Leu416Pro Uncertain significance Single submitter
- CD6 p.Lys429Asn Uncertain significance Single submitter
- CD6 p.Met326Thr Uncertain significance Single submitter
- CD6 p.Pro102Leu Uncertain significance Single submitter
- CD6 p.Pro105Arg Uncertain significance Single submitter
- CD6 p.Pro218Leu Uncertain significance Single submitter
- CD6 p.Pro315Thr Uncertain significance Single submitter
- CD6 p.Ser130Cys Uncertain significance Single submitter
- CD6 p.Ser353Leu Uncertain significance Single submitter
- CD6 p.Ser564Leu Uncertain significance Single submitter
- CD6 p.Thr113Ile Uncertain significance Single submitter
- CD6 p.Thr380Ala Uncertain significance Single submitter
- CD6 p.Tyr452Cys Uncertain significance Single submitter
- CD6 p.Tyr629His Uncertain significance Single submitter
-
CD6 p.Thr217Met
Benign
No assertion criteria
CD6-related disorder
All CD6 variants
Benign 12
- c.1583-8T>C Single submitter
- c.49+8C>T No assertion criteria CD6-related disorder
- p.Ala257= No assertion criteria CD6-related disorder
- p.Ala257Val No assertion criteria CD6-related disorder
- p.Ala271Thr No assertion criteria CD6-related disorder
- p.Ala605= No assertion criteria CD6-related disorder
- p.Arg225Trp No assertion criteria CD6-related disorder
- p.Gly606Ser No assertion criteria CD6-related disorder
- p.Ser568= No assertion criteria CD6-related disorder
- p.Ser625= No assertion criteria CD6-related disorder
- p.Thr189= No assertion criteria CD6-related disorder
- p.Thr217Met No assertion criteria CD6-related disorder ⚠
Likely benign 9
- p.Gly606= Single submitter
- p.His544Pro Single submitter
- p.Leu596Pro Single submitter
- p.Pro404Leu Single submitter
- p.Val407Ile Single submitter
- p.Pro433= No assertion criteria CD6-related disorder
- p.Pro454= No assertion criteria CD6-related disorder
- p.Ser612Pro No assertion criteria CD6-related disorder
- p.Thr657= No assertion criteria CD6-related disorder
Uncertain significance 85
- p.Ala151Val Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala22Asp Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala311Glu Single submitter ⚠
- p.Ala431Asp Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Arg220Ser Single submitter ⚠
- p.Arg266His Single submitter ⚠
- p.Arg266Leu Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg343Trp Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg507Gln Single submitter ⚠
- p.Arg507Trp Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg509Trp Single submitter ⚠
- p.Arg592Thr Single submitter ⚠
- p.Arg77Ser Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn49Ser Single submitter ⚠
- p.Asn541Lys Single submitter ⚠
- p.Asn574Ser Single submitter ⚠
- p.Cys545Arg Single submitter ⚠
- p.Gln471Arg Single submitter ⚠
- p.Gln608Lys Single submitter ⚠
- p.Glu35Val Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu476Lys Single submitter ⚠
- p.Glu642Asp Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly148Arg Single submitter ⚠
- p.Gly166Arg Single submitter ⚠
- p.Gly167Val Single submitter ⚠
- p.Gly180Asp Single submitter ⚠
- p.Gly203Asp Single submitter ⚠
- p.Gly221Arg Single submitter ⚠
- p.Gly324Ser Single submitter ⚠
- p.Gly409Val Single submitter ⚠
- p.Gly569Glu Single submitter ⚠
- p.Gly614Glu Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.His262Gln Single submitter ⚠
- p.His536Asn Single submitter ⚠
- p.Leu121Val Single submitter ⚠
- p.Leu15Pro Single submitter ⚠
- p.Leu161Arg Single submitter ⚠
- p.Leu416Pro Single submitter ⚠
- p.Leu424Ser Single submitter ⚠
- p.Lys316Arg Single submitter ⚠
- p.Lys427Arg Single submitter ⚠
- p.Lys429Asn Single submitter ⚠
- p.Met176Ile Single submitter ⚠
- p.Met326Thr Single submitter ⚠
- p.Met400Ile Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro106Ala Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro218Leu Single submitter ⚠
- p.Pro315Thr Single submitter ⚠
- p.Pro39Arg Single submitter ⚠
- p.Pro39Thr Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro558Gln Single submitter ⚠
- p.Pro558Leu Single submitter ⚠
- p.Pro615Thr Single submitter ⚠
- p.Pro639Leu Single submitter ⚠
- p.Pro647Ala Single submitter ⚠
- p.Ser130Cys Single submitter ⚠
- p.Ser146Asn Single submitter ⚠
- p.Ser353Leu Single submitter ⚠
- p.Ser564Leu Single submitter ⚠
- p.Ser620Thr Single submitter ⚠
- p.Ser76Thr Single submitter ⚠
- p.Thr113Ile Single submitter ⚠
- p.Thr380Ala Single submitter ⚠
- p.Thr458Ala Single submitter ⚠
- p.Thr511Arg Single submitter ⚠
- p.Tyr328Phe Single submitter ⚠
- p.Tyr452Cys Single submitter ⚠
- p.Tyr629His Single submitter ⚠
- p.Val374Ile Single submitter ⚠
- p.Val407Leu Single submitter ⚠