CPD — 157 ClinVar variants

All ClinVar germline CPD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

4 Benign · 9 Likely benign · 144 Uncertain significance

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

⚑ Evidence disagreements 144

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 80

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

Predictors split 64

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

All CPD variants

Benign 4

p.Arg5= Multiple submitters
p.Lys499Arg Multiple submitters
p.Val677= Multiple submitters
p.Thr899Ile Single submitter

Likely benign 9

p.Arg1059His Single submitter
p.Arg460= Single submitter
p.Asn879Ser Single submitter
p.Asp6Glu Single submitter
p.Ile1053Thr Single submitter
p.Ile864Val Single submitter
p.Leu13Pro Single submitter
p.Phe197Leu Single submitter
p.Tyr493His Single submitter

Uncertain significance 144

p.Ala122Val Single submitter ⚠
p.Ala1263Thr Single submitter ⚠
p.Ala157Val Single submitter ⚠
p.Ala158Val Single submitter ⚠
p.Ala46Val Single submitter ⚠
p.Ala517Gly Single submitter ⚠
p.Ala668Val Single submitter ⚠
p.Ala704Thr Single submitter ⚠
p.Ala991Ser Single submitter ⚠
p.Arg1154His Single submitter ⚠
p.Arg1192Leu Single submitter ⚠
p.Arg1292Gln Single submitter ⚠
p.Arg1292Trp Single submitter ⚠
p.Arg1329Gly Single submitter ⚠
p.Arg1336Gln Single submitter ⚠
p.Arg1336Trp Single submitter ⚠
p.Arg1349Pro Single submitter ⚠
p.Arg154Cys Single submitter ⚠
p.Arg161Cys Single submitter ⚠
p.Arg166Leu Single submitter ⚠
p.Arg208Pro Single submitter ⚠
p.Arg212Gly Single submitter ⚠
p.Arg246His Single submitter ⚠
p.Arg30Trp Single submitter ⚠
p.Arg363Gln Single submitter ⚠
p.Arg370Leu Single submitter ⚠
p.Arg525Gln Single submitter ⚠
p.Arg57Pro Single submitter ⚠
p.Arg782Gln Single submitter ⚠
p.Arg807Met Single submitter ⚠
p.Arg872Gln Single submitter ⚠
p.Arg921Cys Single submitter ⚠
p.Arg921His Single submitter ⚠
p.Arg966His Single submitter ⚠
p.Arg988Cys Single submitter ⚠
p.Asn1235Asp Single submitter ⚠
p.Asn1328Ser Single submitter ⚠
p.Asn172Ser Single submitter ⚠
p.Asn172Thr Single submitter ⚠
p.Asn217Ile Single submitter ⚠
p.Asn410Ser Single submitter ⚠
p.Asn518Ser Single submitter ⚠
p.Asn669Asp Single submitter ⚠
p.Asn781Ser Single submitter ⚠
p.Asn978Ser Single submitter ⚠
p.Asp1048Gly Single submitter ⚠
p.Asp1332Glu Single submitter ⚠
p.Asp1366Asn Single submitter ⚠
p.Asp319His Single submitter ⚠
p.Asp683Val Single submitter ⚠
p.Asp684Asn Single submitter ⚠
p.Gln1241Glu Single submitter ⚠
p.Gln497Arg Single submitter ⚠
p.Glu1157Gln Single submitter ⚠
p.Glu315Lys Single submitter ⚠
p.Glu365Gln Single submitter ⚠
p.Glu984Lys Single submitter ⚠
p.Gly1150Glu Single submitter ⚠
p.Gly1151Val Single submitter ⚠
p.Gly1237Arg Single submitter ⚠
p.Gly1354Ser Single submitter ⚠
p.Gly14Glu Single submitter ⚠
p.Gly324Ser Single submitter ⚠
p.Gly332Ala Single submitter ⚠
p.Gly333Ser Single submitter ⚠
p.Gly386Arg Single submitter ⚠
p.Gly426Glu Single submitter ⚠
p.Gly764Cys Single submitter ⚠
p.Gly78Val Single submitter ⚠
p.Gly914Ala Single submitter ⚠
p.His1340Arg Single submitter ⚠
p.His409Tyr Single submitter ⚠
p.His671Gln Single submitter ⚠
p.His731Arg Single submitter ⚠
p.Ile1080Thr Single submitter ⚠
p.Ile1285Val Single submitter ⚠
p.Ile1325Val Single submitter ⚠
p.Ile150Phe Single submitter ⚠
p.Ile301Val Single submitter ⚠
p.Ile382Thr Single submitter ⚠
p.Ile496Val Single submitter ⚠
p.Ile560Leu Single submitter ⚠
p.Ile761Val Single submitter ⚠
p.Leu1095Ile Single submitter ⚠
p.Leu1095Phe Single submitter ⚠
p.Leu241Phe Single submitter ⚠
p.Leu291Phe Single submitter ⚠
p.Leu76Arg Single submitter ⚠
p.Leu99Phe Single submitter ⚠
p.Lys1017Asn Single submitter ⚠
p.Lys1222Glu Single submitter ⚠
p.Lys1331Arg Single submitter ⚠
p.Lys709Arg Single submitter ⚠
p.Lys709Glu Single submitter ⚠
p.Lys900Glu Single submitter ⚠
p.Met1309Val Single submitter ⚠
p.Met138Val Single submitter ⚠
p.Met509Thr Single submitter ⚠
p.Met563Thr Single submitter ⚠
p.Phe1218Ser Single submitter ⚠
p.Phe317Leu Single submitter ⚠
p.Phe416Cys Single submitter ⚠
p.Phe419Leu Single submitter ⚠
p.Phe788Leu Single submitter ⚠
p.Pro1019Ser Single submitter ⚠
p.Pro1176Leu Single submitter ⚠
p.Pro119Ala Single submitter ⚠
p.Pro124Ser Single submitter ⚠
p.Pro229Ala Single submitter ⚠
p.Pro229Ser Single submitter ⚠
p.Pro229Thr Single submitter ⚠
p.Pro300Arg Single submitter ⚠
p.Pro300Ser Single submitter ⚠
p.Pro897Ala Single submitter ⚠
p.Pro9Gln Single submitter ⚠
p.Ser1160Asn Single submitter ⚠
p.Ser1281Gly Single submitter ⚠
p.Ser1355Pro Single submitter ⚠
p.Ser203Phe Single submitter ⚠
p.Ser206Arg Single submitter ⚠
p.Ser391Phe Single submitter ⚠
p.Ser475Leu Single submitter ⚠
p.Ser535Leu Single submitter ⚠
p.Ser66Thr Single submitter ⚠
p.Ser706Cys Single submitter ⚠
p.Thr1171Ser Single submitter ⚠
p.Thr1303Ile Single submitter ⚠
p.Thr304Ala Single submitter ⚠
p.Thr479Ile Single submitter ⚠
p.Thr648Met Single submitter ⚠
p.Thr869Arg Single submitter ⚠
p.Thr875Ile Single submitter ⚠
p.Thr898Ile Single submitter ⚠
p.Trp658Arg Single submitter ⚠
p.Trp739Arg Single submitter ⚠
p.Tyr328Cys Single submitter ⚠
p.Val1209Leu Single submitter ⚠
p.Val340Met Single submitter ⚠
p.Val384Met Single submitter ⚠
p.Val474Ile Single submitter ⚠
p.Val480Ile Single submitter ⚠
p.Val642Phe Single submitter ⚠
p.Val796Ile Single submitter ⚠
p.Val979Ile Single submitter ⚠