CCDC38 — 94 ClinVar variants
All ClinVar germline CCDC38 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
10 Likely benign · 84 Uncertain significance
Full CCDC38 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC38 p.Ala125Ser Uncertain significance Single submitter
- CCDC38 p.Ala425Val Uncertain significance Single submitter
- CCDC38 p.Ala76Pro Uncertain significance Single submitter
- CCDC38 p.Arg145Gln Uncertain significance Single submitter
- CCDC38 p.Arg24Gly Uncertain significance Single submitter
- CCDC38 p.Arg299Ser Uncertain significance Single submitter
- CCDC38 p.Asn353Lys Uncertain significance Single submitter
- CCDC38 p.Asn384Lys Uncertain significance Single submitter
- CCDC38 p.Asn549Ser Uncertain significance Single submitter
- CCDC38 p.Asp104Asn Uncertain significance Single submitter
- CCDC38 p.Asp327Glu Uncertain significance Single submitter
- CCDC38 p.Asp451Glu Uncertain significance Single submitter
- CCDC38 p.Cys444Arg Uncertain significance Single submitter
- CCDC38 p.Gln378Arg Uncertain significance Single submitter
- CCDC38 p.Gln439Lys Uncertain significance Single submitter
- CCDC38 p.Glu162Val Uncertain significance Single submitter
- CCDC38 p.Glu310Lys Uncertain significance Single submitter
- CCDC38 p.Glu315Gln Uncertain significance Single submitter
- CCDC38 p.Gly18Val Uncertain significance Single submitter
- CCDC38 p.Gly83Val Uncertain significance Single submitter
- CCDC38 p.Ile28Asn Uncertain significance Single submitter
- CCDC38 p.Ile385Thr Uncertain significance Single submitter
- CCDC38 p.Leu321Pro Uncertain significance Single submitter
- CCDC38 p.Leu343Phe Uncertain significance Single submitter
- CCDC38 p.Leu388Pro Uncertain significance Single submitter
- CCDC38 p.Leu389Ser Uncertain significance Single submitter
- CCDC38 p.Leu415Ile Uncertain significance Single submitter
- CCDC38 p.Leu527Val Uncertain significance Single submitter
- CCDC38 p.Lys27Glu Uncertain significance Single submitter
- CCDC38 p.Met394Arg Uncertain significance Single submitter
- CCDC38 p.Met394Val Uncertain significance Single submitter
- CCDC38 p.Met487Thr Uncertain significance Single submitter
- CCDC38 p.Met54Val Uncertain significance Single submitter
- CCDC38 p.Phe418Ser Uncertain significance Single submitter
- CCDC38 p.Phe49Cys Uncertain significance Single submitter
- CCDC38 p.Phe77Leu Uncertain significance Single submitter
- CCDC38 p.Pro229Leu Uncertain significance Single submitter
- CCDC38 p.Ser260Pro Uncertain significance Single submitter
- CCDC38 p.Ser306Pro Uncertain significance Single submitter
- CCDC38 p.Ser539Pro Uncertain significance Single submitter
- CCDC38 p.Thr108Ser Uncertain significance Single submitter
- CCDC38 p.Tyr71Ser Uncertain significance Single submitter
- CCDC38 p.Tyr78Cys Uncertain significance Single submitter
- CCDC38 p.Val278Ala Uncertain significance Single submitter
- CCDC38 p.Val328Ile Uncertain significance Single submitter
- CCDC38 p.Val376Ile Uncertain significance Single submitter
- CCDC38 p.Val520Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- CCDC38 p.Ala175Ser Uncertain significance Single submitter
- CCDC38 p.Ala175Thr Uncertain significance Single submitter
- CCDC38 p.Ala407Val Uncertain significance Single submitter
- CCDC38 p.Arg107Met Uncertain significance Single submitter
- CCDC38 p.Arg299Cys Uncertain significance Single submitter
- CCDC38 p.Arg465Cys Uncertain significance Single submitter
- CCDC38 p.Arg465His Uncertain significance Single submitter
- CCDC38 p.Arg493Gln Uncertain significance Single submitter
- CCDC38 p.Arg493Trp Uncertain significance Single submitter
- CCDC38 p.Arg497His Uncertain significance Single submitter
- CCDC38 p.Arg529Ile Uncertain significance Single submitter
- CCDC38 p.Arg530Gln Uncertain significance Single submitter
- CCDC38 p.Asn366Tyr Uncertain significance Single submitter
- CCDC38 p.Asp139Tyr Uncertain significance Single submitter
- CCDC38 p.Asp174His Uncertain significance Single submitter
- CCDC38 p.Asp329His Uncertain significance Single submitter
- CCDC38 p.Asp362Gly Uncertain significance Single submitter
- CCDC38 p.Gln226Arg Uncertain significance Single submitter
- CCDC38 p.Glu123Lys Uncertain significance Single submitter
- CCDC38 p.Glu151Lys Uncertain significance Single submitter
- CCDC38 p.Glu38Gly Uncertain significance Single submitter
- CCDC38 p.Glu402Lys Uncertain significance Single submitter
- CCDC38 p.Glu404Ala Uncertain significance Single submitter
- CCDC38 p.Glu491Lys Uncertain significance Single submitter
- CCDC38 p.Ile445Phe Uncertain significance Single submitter
- CCDC38 p.Ile476Thr Uncertain significance Single submitter
- CCDC38 p.Lys135Met Uncertain significance Single submitter
- CCDC38 p.Lys239Gln Uncertain significance Single submitter
- CCDC38 p.Lys412Glu Uncertain significance Single submitter
- CCDC38 p.Lys414Arg Likely benign Single submitter
- CCDC38 p.Lys525Glu Uncertain significance Single submitter
- CCDC38 p.Met487Lys Uncertain significance Single submitter
- CCDC38 p.Pro537Thr Uncertain significance Single submitter
- CCDC38 p.Ser432Leu Uncertain significance Single submitter
- CCDC38 p.Thr128Ile Uncertain significance Single submitter
- CCDC38 p.Tyr124Cys Uncertain significance Single submitter
- CCDC38 p.Tyr220Cys Uncertain significance Single submitter
- CCDC38 p.Val520Ala Uncertain significance Single submitter
All CCDC38 variants
Likely benign 10
- p.Ala94Thr Single submitter
- p.Gly274Arg Single submitter
- p.Gly291Ala Single submitter
- p.Gly452Ser Single submitter
- p.His69Arg Single submitter
- p.Ile100Thr Single submitter
- p.Leu527= Single submitter
- p.Lys414Arg Single submitter ⚠
- p.Pro95= Single submitter
- p.Pro95Leu Single submitter
Uncertain significance 84
- p.Ala125Ser Single submitter ⚠
- p.Ala175Ser Single submitter ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala407Val Single submitter ⚠
- p.Ala425Val Single submitter ⚠
- p.Ala76Pro Single submitter ⚠
- p.Arg107Met Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg24Gly Single submitter ⚠
- p.Arg299Cys Single submitter ⚠
- p.Arg299Ser Single submitter ⚠
- p.Arg465Cys Single submitter ⚠
- p.Arg465His Single submitter ⚠
- p.Arg493Gln Single submitter ⚠
- p.Arg493Trp Single submitter ⚠
- p.Arg497His Single submitter ⚠
- p.Arg529Ile Single submitter ⚠
- p.Arg530Gln Single submitter ⚠
- p.Asn353Lys Single submitter ⚠
- p.Asn366Tyr Single submitter ⚠
- p.Asn384Lys Single submitter ⚠
- p.Asn549Ser Single submitter ⚠
- p.Asp104Asn Single submitter ⚠
- p.Asp139Tyr Single submitter ⚠
- p.Asp174His Single submitter ⚠
- p.Asp327Glu Single submitter ⚠
- p.Asp329His Single submitter ⚠
- p.Asp362Gly Single submitter ⚠
- p.Asp451Glu Single submitter ⚠
- p.Cys444Arg Single submitter ⚠
- p.Gln226Arg Single submitter ⚠
- p.Gln378Arg Single submitter ⚠
- p.Gln439Lys Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu162Val Single submitter ⚠
- p.Glu310Lys Single submitter ⚠
- p.Glu315Gln Single submitter ⚠
- p.Glu38Gly Single submitter ⚠
- p.Glu402Lys Single submitter ⚠
- p.Glu404Ala Single submitter ⚠
- p.Glu491Lys Single submitter ⚠
- p.Gly18Val Single submitter ⚠
- p.Gly83Val Single submitter ⚠
- p.Ile28Asn Single submitter ⚠
- p.Ile385Thr Single submitter ⚠
- p.Ile445Phe Single submitter ⚠
- p.Ile476Thr Single submitter ⚠
- p.Leu321Pro Single submitter ⚠
- p.Leu343Phe Single submitter ⚠
- p.Leu388Pro Single submitter ⚠
- p.Leu389Ser Single submitter ⚠
- p.Leu415Ile Single submitter ⚠
- p.Leu527Val Single submitter ⚠
- p.Lys135Met Single submitter ⚠
- p.Lys239Gln Single submitter ⚠
- p.Lys27Glu Single submitter ⚠
- p.Lys412Glu Single submitter ⚠
- p.Lys525Glu Single submitter ⚠
- p.Met394Arg Single submitter ⚠
- p.Met394Val Single submitter ⚠
- p.Met487Lys Single submitter ⚠
- p.Met487Thr Single submitter ⚠
- p.Met54Val Single submitter ⚠
- p.Phe418Ser Single submitter ⚠
- p.Phe49Cys Single submitter ⚠
- p.Phe77Leu Single submitter ⚠
- p.Pro229Leu Single submitter ⚠
- p.Pro537Thr Single submitter ⚠
- p.Ser260Pro Single submitter ⚠
- p.Ser306Pro Single submitter ⚠
- p.Ser432Leu Single submitter ⚠
- p.Ser539Pro Single submitter ⚠
- p.Thr108Ser Single submitter ⚠
- p.Thr128Ile Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Tyr220Cys Single submitter ⚠
- p.Tyr71Ser Single submitter ⚠
- p.Tyr78Cys Single submitter ⚠
- p.Val278Ala Single submitter ⚠
- p.Val328Ile Single submitter ⚠
- p.Val376Ile Single submitter ⚠
- p.Val520Ala Single submitter ⚠
- p.Val520Ile Single submitter ⚠