CCDC57 — 153 ClinVar variants

All ClinVar germline CCDC57 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

21 Likely benign · 132 Uncertain significance

Full CCDC57 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

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 75

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

Predictors split 62

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

All CCDC57 variants

Likely benign 21

p.Ala301= Single submitter
p.Ala469= Single submitter
p.Ala584Gly Single submitter
p.Ala690Thr Single submitter
p.Arg183Gln Single submitter
p.Arg203Gln Single submitter
p.Arg257Cys Single submitter ⚠
p.Arg525Gln Single submitter
p.Arg587Gln Single submitter
p.Arg697His Single submitter ⚠
p.Arg710Gln Single submitter
p.Arg89Gln Single submitter
p.Arg929His Single submitter
p.Gln80Arg Single submitter
p.Gly571Ala Single submitter
p.Leu331= Single submitter
p.Pro918Arg Single submitter
p.Ser180Leu Single submitter ⚠
p.Thr383Met Single submitter ⚠
p.Thr941= Single submitter
p.Val488Met Single submitter ⚠

Uncertain significance 132

p.Ala1009Val Single submitter ⚠
p.Ala222Val Single submitter ⚠
p.Ala231Val Single submitter ⚠
p.Ala329Ser Single submitter ⚠
p.Ala469Val Single submitter ⚠
p.Ala490Val Single submitter ⚠
p.Ala534Thr Single submitter ⚠
p.Ala536Pro Single submitter ⚠
p.Ala556Val Single submitter ⚠
p.Ala631Val Single submitter ⚠
p.Ala728Val Single submitter ⚠
p.Ala741Thr Single submitter ⚠
p.Ala76Ser Single submitter ⚠
p.Ala77Ser Single submitter ⚠
p.Ala77Thr Single submitter ⚠
p.Ala79Thr Single submitter ⚠
p.Ala81Ser Single submitter ⚠
p.Ala861Thr Single submitter ⚠
p.Ala868Asp Single submitter ⚠
p.Ala889Asp Single submitter ⚠
p.Arg1005Gln Single submitter ⚠
p.Arg1005Trp Single submitter ⚠
p.Arg1016Lys Single submitter ⚠
p.Arg128Cys Single submitter ⚠
p.Arg128His Single submitter ⚠
p.Arg128Leu Single submitter ⚠
p.Arg133Cys Single submitter ⚠
p.Arg146Gln Single submitter ⚠
p.Arg16Cys Single submitter ⚠
p.Arg16Leu Single submitter ⚠
p.Arg203Trp Single submitter ⚠
p.Arg259Trp Single submitter ⚠
p.Arg283Lys Single submitter ⚠
p.Arg28His Single submitter ⚠
p.Arg290Cys Single submitter ⚠
p.Arg333Lys Single submitter ⚠
p.Arg353His Single submitter ⚠
p.Arg353Ser Single submitter ⚠
p.Arg40Pro Single submitter ⚠
p.Arg421His Single submitter ⚠
p.Arg433Cys Single submitter ⚠
p.Arg484Gln Single submitter ⚠
p.Arg621His Single submitter ⚠
p.Arg67Gln Single submitter ⚠
p.Arg67Trp Single submitter ⚠
p.Arg697Gly Single submitter ⚠
p.Arg73Cys Single submitter ⚠
p.Arg879His Single submitter ⚠
p.Arg879Leu Single submitter ⚠
p.Arg89Trp Single submitter ⚠
p.Asp143Asn Single submitter ⚠
p.Asp296Asn Single submitter ⚠
p.Asp38Glu Single submitter ⚠
p.Asp422Val Single submitter ⚠
p.Asp515Val Single submitter ⚠
p.Asp665Asn Single submitter ⚠
p.Asp860Val Single submitter ⚠
p.Asp975Glu Single submitter ⚠
p.Gln1015His Single submitter ⚠
p.Gln192Leu Single submitter ⚠
p.Gln25Leu Single submitter ⚠
p.Gln309His Single submitter ⚠
p.Gln309Leu Single submitter ⚠
p.Gln30Lys Single submitter ⚠
p.Gln311Leu Single submitter ⚠
p.Gln314Arg Single submitter ⚠
p.Gln37Arg Single submitter ⚠
p.Gln650Lys Single submitter ⚠
p.Gln701Glu Single submitter ⚠
p.Glu162Gly Single submitter ⚠
p.Glu188Lys Single submitter ⚠
p.Glu232Gly Single submitter ⚠
p.Glu237Lys Single submitter ⚠
p.Glu248Val Single submitter ⚠
p.Glu286Gln Single submitter ⚠
p.Glu286Lys Single submitter ⚠
p.Glu308Gly Single submitter ⚠
p.Glu387Lys Single submitter ⚠
p.Glu687Gln Single submitter ⚠
p.Glu729Gly Single submitter ⚠
p.Glu94Gln Single submitter ⚠
p.Glu94Lys Single submitter ⚠
p.Gly221Arg Single submitter ⚠
p.Gly247Arg Single submitter ⚠
p.Gly571Glu Single submitter ⚠
p.Gly5Arg Single submitter ⚠
p.Gly637Arg Single submitter ⚠
p.Gly646Glu Single submitter ⚠
p.Gly664Arg Single submitter ⚠
p.Gly726Arg Single submitter ⚠
p.His145Asp Single submitter ⚠
p.His323Gln Single submitter ⚠
p.His508Arg Single submitter ⚠
p.His591Pro Single submitter ⚠
p.His613Gln Single submitter ⚠
p.Ile349Val Single submitter ⚠
p.Ile442Met Single submitter ⚠
p.Ile985Thr Single submitter ⚠
p.Leu327Phe Single submitter ⚠
p.Leu600Ile Single submitter ⚠
p.Leu604Phe Single submitter ⚠
p.Leu69Ile Single submitter ⚠
p.Leu716Pro Single submitter ⚠
p.Leu716Val Single submitter ⚠
p.Leu720Arg Single submitter ⚠
p.Leu968Arg Single submitter ⚠
p.Lys284Asn Single submitter ⚠
p.Lys360Thr Single submitter ⚠
p.Lys406Gln Single submitter ⚠
p.Lys456Glu Single submitter ⚠
p.Lys991Thr Single submitter ⚠
p.Met1026Arg Single submitter ⚠
p.Met1026Thr Single submitter ⚠
p.Pro565Ser Single submitter ⚠
p.Pro688Leu Single submitter ⚠
p.Pro907Thr Single submitter ⚠
p.Pro924Arg Single submitter ⚠
p.Pro971His Single submitter ⚠
p.Ser180Pro Single submitter ⚠
p.Ser398Phe Single submitter ⚠
p.Ser418Arg Single submitter ⚠
p.Ser739Leu Single submitter ⚠
p.Ser870Phe Single submitter ⚠
p.Ser939Arg Single submitter ⚠
p.Ser93Ile Single submitter ⚠
p.Thr901Met Single submitter ⚠
p.Trp336Cys Single submitter ⚠
p.Val207Phe Single submitter ⚠
p.Val488Leu Single submitter ⚠
p.Val620Ile Single submitter ⚠
p.Val681Met Single submitter ⚠
p.Val958Asp Single submitter ⚠