CCDC150 — 170 ClinVar variants

All ClinVar germline CCDC150 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

10 Likely benign · 160 Uncertain significance

Full CCDC150 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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 117

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 43

The independent predictors disagree with each other — read with care.

All CCDC150 variants

Likely benign 10

p.Ala272Thr Single submitter
p.Arg1083Lys Single submitter
p.Arg266His Single submitter
p.Glu331Lys Single submitter
p.Gly245Glu Single submitter
p.Lys281Gln Single submitter
p.Met591Leu Single submitter
p.Ser1073Pro Single submitter
p.Ser798Asn Single submitter
p.Val948= Single submitter

Uncertain significance 160

p.Ala166Ser Single submitter ⚠
p.Ala166Thr Single submitter ⚠
p.Ala183Ser Single submitter ⚠
p.Ala419Glu Single submitter ⚠
p.Ala438Val Single submitter ⚠
p.Ala443Thr Single submitter ⚠
p.Ala454Pro Single submitter ⚠
p.Ala462Thr Single submitter ⚠
p.Ala644Val Single submitter ⚠
p.Ala64Val Single submitter ⚠
p.Ala734Thr Single submitter ⚠
p.Ala760Pro Single submitter ⚠
p.Ala760Val Single submitter ⚠
p.Ala879Val Single submitter ⚠
p.Arg1033Cys Single submitter ⚠
p.Arg106Leu Single submitter ⚠
p.Arg1080Gln Single submitter ⚠
p.Arg120Leu Single submitter ⚠
p.Arg161His Single submitter ⚠
p.Arg252Gln Single submitter ⚠
p.Arg441Thr Single submitter ⚠
p.Arg589Cys Single submitter ⚠
p.Arg641Cys Single submitter ⚠
p.Arg671Gln Single submitter ⚠
p.Arg710Gln Single submitter ⚠
p.Arg711Gly Single submitter ⚠
p.Arg839Thr Single submitter ⚠
p.Arg848Gln Single submitter ⚠
p.Arg848Trp Single submitter ⚠
p.Arg869Trp Single submitter ⚠
p.Arg971Gln Single submitter ⚠
p.Arg971Leu Single submitter ⚠
p.Arg983Trp Single submitter ⚠
p.Arg992Trp Single submitter ⚠
p.Asn1049Ser Single submitter ⚠
p.Asn1086Ser Single submitter ⚠
p.Asn261Asp Single submitter ⚠
p.Asn482Thr Single submitter ⚠
p.Asn585Ser Single submitter ⚠
p.Asn642Ser Single submitter ⚠
p.Asn663Lys Single submitter ⚠
p.Asn663Thr Single submitter ⚠
p.Asn908Lys Single submitter ⚠
p.Asn953His Single submitter ⚠
p.Asn96Lys Single submitter ⚠
p.Asn972Ser Single submitter ⚠
p.Asp149Glu Single submitter ⚠
p.Asp172Gly Single submitter ⚠
p.Asp2Val Single submitter ⚠
p.Asp525Asn Single submitter ⚠
p.Asp723Tyr Single submitter ⚠
p.Asp72His Single submitter ⚠
p.Asp790Val Single submitter ⚠
p.Asp858Asn Single submitter ⚠
p.Asp858Glu Single submitter ⚠
p.Asp91Gly Single submitter ⚠
p.Cys1006Tyr Single submitter ⚠
p.Cys358Gly Single submitter ⚠
p.Cys86Tyr Single submitter ⚠
p.Cys97Phe Single submitter ⚠
p.Gln1075Arg Single submitter ⚠
p.Gln112Arg Single submitter ⚠
p.Gln343Arg Single submitter ⚠
p.Gln361His Single submitter ⚠
p.Gln408Arg Single submitter ⚠
p.Gln411Lys Single submitter ⚠
p.Gln433His Single submitter ⚠
p.Gln565Arg Single submitter ⚠
p.Gln574Lys Single submitter ⚠
p.Gln576Arg Single submitter ⚠
p.Gln786Arg Single submitter ⚠
p.Gln925Glu Single submitter ⚠
p.Gln925Lys Single submitter ⚠
p.Gln974Arg Single submitter ⚠
p.Glu1020Gly Single submitter ⚠
p.Glu1022Lys Single submitter ⚠
p.Glu124Gly Single submitter ⚠
p.Glu124Lys Single submitter ⚠
p.Glu215Ala Single submitter ⚠
p.Glu285Val Single submitter ⚠
p.Glu459Asp Single submitter ⚠
p.Glu466Val Single submitter ⚠
p.Glu519Asp Single submitter ⚠
p.Glu531Gln Single submitter ⚠
p.Glu702Asp Single submitter ⚠
p.Glu721Gln Single submitter ⚠
p.Glu800Val Single submitter ⚠
p.Gly1041Ser Single submitter ⚠
p.Gly562Arg Single submitter ⚠
p.Gly60Cys Single submitter ⚠
p.His154Arg Single submitter ⚠
p.His322Asp Single submitter ⚠
p.His428Arg Single submitter ⚠
p.His511Pro Single submitter ⚠
p.His6Pro Single submitter ⚠
p.His784Gln Single submitter ⚠
p.His784Tyr Single submitter ⚠
p.Ile197Val Single submitter ⚠
p.Ile263Leu Single submitter ⚠
p.Ile288Leu Single submitter ⚠
p.Ile370Leu Single submitter ⚠
p.Ile371Val Single submitter ⚠
p.Ile425Leu Single submitter ⚠
p.Ile506Val Single submitter ⚠
p.Ile685Val Single submitter ⚠
p.Leu100Val Single submitter ⚠
p.Leu360Phe Single submitter ⚠
p.Leu417Pro Single submitter ⚠
p.Leu426Ile Single submitter ⚠
p.Leu509Ser Single submitter ⚠
p.Leu53Met Single submitter ⚠
p.Leu620Val Single submitter ⚠
p.Lys1015Arg Single submitter ⚠
p.Lys1015Glu Single submitter ⚠
p.Lys151Glu Single submitter ⚠
p.Lys224Thr Single submitter ⚠
p.Lys253Gln Single submitter ⚠
p.Lys283Glu Single submitter ⚠
p.Lys294Thr Single submitter ⚠
p.Lys341Glu Single submitter ⚠
p.Lys855Asn Single submitter ⚠
p.Lys855Glu Single submitter ⚠
p.Lys935Arg Single submitter ⚠
p.Met1072Thr Single submitter ⚠
p.Met111Leu Single submitter ⚠
p.Met111Thr Single submitter ⚠
p.Met116Ile Single submitter ⚠
p.Met237Thr Single submitter ⚠
p.Met359Val Single submitter ⚠
p.Met365Ile Single submitter ⚠
p.Met464Thr Single submitter ⚠
p.Met527Leu Single submitter ⚠
p.Met686Val Single submitter ⚠
p.Met813Val Single submitter ⚠
p.Met960Ile Single submitter ⚠
p.Phe862Cys Single submitter ⚠
p.Phe862Leu Single submitter ⚠
p.Pro1091Thr Single submitter ⚠
p.Pro14Leu Single submitter ⚠
p.Pro18Ser Single submitter ⚠
p.Pro79Ser Single submitter ⚠
p.Ser189Leu Single submitter ⚠
p.Ser469Phe Single submitter ⚠
p.Ser582Thr Single submitter ⚠
p.Ser969Pro Single submitter ⚠
p.Thr1013Met Single submitter ⚠
p.Thr184Ala Single submitter ⚠
p.Thr191Ser Single submitter ⚠
p.Thr204Ile Single submitter ⚠
p.Thr204Ser Single submitter ⚠
p.Thr515Ile Single submitter ⚠
p.Thr515Ser Single submitter ⚠
p.Tyr938His Single submitter ⚠
p.Val15Ala Single submitter ⚠
p.Val15Ile Single submitter ⚠
p.Val178Gly Single submitter ⚠
p.Val611Ala Single submitter ⚠
p.Val683Ile Single submitter ⚠
p.Val76Gly Single submitter ⚠
p.Val819Leu Single submitter ⚠