CCDC28B — 46 ClinVar variants
All ClinVar germline CCDC28B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
2 Benign · 2 Benign/Likely benign · 5 Likely benign · 37 Uncertain significance
Full CCDC28B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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.
- CCDC28B p.Ala199Asp Uncertain significance Single submitter
- CCDC28B p.Ala20Val Uncertain significance Single submitter
- CCDC28B p.Ala73Pro Uncertain significance Single submitter
- CCDC28B p.Ala73Val Uncertain significance Single submitter
- CCDC28B p.Arg106Gln Uncertain significance Single submitter
- CCDC28B p.Arg123Gly Uncertain significance Single submitter
- CCDC28B p.Arg131Gln Uncertain significance Single submitter
- CCDC28B p.Arg167His Uncertain significance Single submitter
- CCDC28B p.Arg8Gln Uncertain significance Single submitter
- CCDC28B p.Arg8Trp Uncertain significance Single submitter
- CCDC28B p.Asn100Ser Uncertain significance Single submitter
- CCDC28B p.Asp166Asn Uncertain significance Single submitter
- CCDC28B p.Asp87His Uncertain significance Single submitter
- CCDC28B p.Gln118Leu Uncertain significance Single submitter
- CCDC28B p.Gln160Lys Uncertain significance Single submitter
- CCDC28B p.Gln171Arg Uncertain significance Single submitter
- CCDC28B p.Gln19Pro Uncertain significance Single submitter
- CCDC28B p.Glu146Gly Uncertain significance Single submitter
- CCDC28B p.Glu59Gln Uncertain significance Single submitter
- CCDC28B p.Glu84Asp Uncertain significance Single submitter
- CCDC28B p.Gly111Glu Uncertain significance Single submitter
- CCDC28B p.Gly94Glu Uncertain significance Single submitter
-
CCDC28B p.His33Asn
Uncertain significance
Single submitter
Bardet-Biedl syndrome 1
- CCDC28B p.Leu39Val Uncertain significance Single submitter
- CCDC28B p.Pro10Ser Uncertain significance Single submitter
- CCDC28B p.Pro47Leu Uncertain significance Single submitter
- CCDC28B p.Pro63Leu Uncertain significance Single submitter
- CCDC28B p.Val152Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CCDC28B p.Arg106Trp Uncertain significance Single submitter
- CCDC28B p.Arg55Gly Uncertain significance Single submitter
- CCDC28B p.Asn181Lys Uncertain significance Single submitter
- CCDC28B p.Gln118Glu Uncertain significance Single submitter
- CCDC28B p.Glu143Lys Uncertain significance Single submitter
- CCDC28B p.Glu190Gln Uncertain significance Single submitter
All CCDC28B variants
Benign 2
- p.Arg25Trp Multiple submitters
- c.165-203C>A Single submitter
Benign/Likely benign 2
- p.Glu154= Multiple submitters Bardet-Biedl syndrome 1
- p.Gly155Arg Multiple submitters
Likely benign 5
- c.526-17T>C Single submitter
- c.548+115T>G Single submitter
- p.Arg167= Single submitter
- p.Asp166= Single submitter
- c.549-8G>C No assertion criteria CCDC28B-related disorder
Uncertain significance 37
- p.Lys112= Multiple submitters
- p.Ala199Asp Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala73Pro Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg106Trp Single submitter ⚠
- p.Arg123Gly Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg167His Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asn181Lys Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp87His Single submitter ⚠
- p.Gln118Glu Single submitter ⚠
- p.Gln118Leu Single submitter ⚠
- p.Gln160Lys Single submitter ⚠
- p.Gln171Arg Single submitter ⚠
- p.Gln19Pro Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.Glu146Gly Single submitter ⚠
- p.Glu190Gln Single submitter ⚠
- p.Glu59Gln Single submitter ⚠
- p.Glu84Asp Single submitter ⚠
- p.Gly111Glu Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.His33Asn Single submitter Bardet-Biedl syndrome 1 ⚠
- p.Leu39Val Single submitter ⚠
- p.Phe110= Single submitter CCDC28B-related disorder
- p.Pro10Ser Single submitter ⚠
- p.Pro47Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser46Phe Single submitter
- p.Val152Ala Single submitter ⚠