CD38 — 39 ClinVar variants
All ClinVar germline CD38 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Benign · 3 Likely benign · 34 Uncertain significance
Full CD38 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD38 p.Ala154Val Uncertain significance Single submitter
- CD38 p.Arg195Gly Uncertain significance Single submitter
- CD38 p.Asn169Ser Uncertain significance Single submitter
- CD38 p.Asn229Ser Uncertain significance Single submitter
- CD38 p.Asp12Asn Uncertain significance Single submitter
- CD38 p.Asp179Gly Uncertain significance Single submitter
- CD38 p.Asp256His Uncertain significance Single submitter
- CD38 p.Cys160Phe Uncertain significance Single submitter
- CD38 p.Cys99Arg Uncertain significance Single submitter
- CD38 p.Glu263Gly Uncertain significance Single submitter
- CD38 p.Gly91Ser Uncertain significance Single submitter
- CD38 p.Ile300Phe Uncertain significance Single submitter
- CD38 p.Leu153Pro Uncertain significance Single submitter
- CD38 p.Leu18Phe Uncertain significance Single submitter
- CD38 p.Pro53Ala Uncertain significance Single submitter
- CD38 p.Pro53Leu Uncertain significance Single submitter
- CD38 p.Pro60Ser Uncertain significance Single submitter
- CD38 p.Ser181Asn Uncertain significance Single submitter
- CD38 p.Ser213Gly Uncertain significance Single submitter
- CD38 p.Ser264Thr Uncertain significance Single submitter
- CD38 p.Thr297Lys Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CD38 p.Arg17Trp Uncertain significance Single submitter
- CD38 p.Arg194Cys Uncertain significance Single submitter
- CD38 p.Asn209His Uncertain significance Single submitter
- CD38 p.Asp130His Uncertain significance Single submitter
- CD38 p.Asp256Glu Likely benign Single submitter
- CD38 p.Cys287Phe Uncertain significance Single submitter
- CD38 p.Glu263Val Uncertain significance Single submitter
- CD38 p.Glu76Gln Uncertain significance Single submitter
- CD38 p.Leu18Arg Uncertain significance Single submitter
- CD38 p.Met142Thr Uncertain significance Single submitter
- CD38 p.Pro257Leu Uncertain significance Single submitter
- CD38 p.Pro281Ser Uncertain significance Single submitter
- CD38 p.Ser264Leu Likely benign Single submitter
- CD38 p.Thr258Ile Uncertain significance Single submitter
All CD38 variants
Benign 2
- p.Tyr70= Multiple submitters
- c.659+5A>G Single submitter
Likely benign 3
- p.Asp256Glu Single submitter ⚠
- p.Ser264Leu Single submitter ⚠
- p.Thr62Ile Single submitter
Uncertain significance 34
- c.752+2T>C Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ala154Val Single submitter ⚠
- p.Arg17Trp Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg195Gly Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn209His Single submitter ⚠
- p.Asn229Ser Single submitter ⚠
- p.Asp12Asn Single submitter ⚠
- p.Asp130His Single submitter ⚠
- p.Asp179Gly Single submitter ⚠
- p.Asp256His Single submitter ⚠
- p.Cys160Phe Single submitter ⚠
- p.Cys287Phe Single submitter ⚠
- p.Cys99Arg Single submitter ⚠
- p.Glu263Gly Single submitter ⚠
- p.Glu263Val Single submitter ⚠
- p.Glu76Gln Single submitter ⚠
- p.Gly91Ser Single submitter ⚠
- p.Ile300Phe Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Leu18Arg Single submitter ⚠
- p.Leu18Phe Single submitter ⚠
- p.Met142Thr Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro281Ser Single submitter ⚠
- p.Pro53Ala Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Ser181Asn Single submitter ⚠
- p.Ser213Gly Single submitter ⚠
- p.Ser264Thr Single submitter ⚠
- p.Thr258Ile Single submitter ⚠
- p.Thr297Lys Single submitter ⚠