CPED1 — 154 ClinVar variants

All ClinVar germline CPED1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

5 Benign · 12 Likely benign · 137 Uncertain significance

Full CPED1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 13

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

All CPED1 variants

Benign 5

c.2634-3C>A Multiple submitters
p.Gly140= Multiple submitters
p.Lys949Thr Multiple submitters
p.Thr293= Multiple submitters
p.Val646= Single submitter

Likely benign 12

p.Ala337Val Single submitter
p.Ala924= Single submitter
p.Arg183Ile Single submitter
p.Asn967His Single submitter
p.Ile100Val Single submitter
p.Met221Thr Single submitter
p.Met88Ile Single submitter
p.Phe514Leu Single submitter
p.Pro139Leu Single submitter
p.Pro8Leu Single submitter
p.Thr758= Single submitter
p.Thr81Ala Single submitter

Uncertain significance 137

p.Ala43Pro Single submitter ⚠
p.Ala44Gly Single submitter ⚠
p.Ala652Val Single submitter ⚠
p.Arg1018Ser Single submitter ⚠
p.Arg16Gln Single submitter ⚠
p.Arg238Cys Single submitter ⚠
p.Arg285His Single submitter ⚠
p.Arg302Leu Single submitter ⚠
p.Arg846Cys Single submitter ⚠
p.Arg846His Single submitter ⚠
p.Arg941Cys Single submitter ⚠
p.Arg97Gln Single submitter ⚠
p.Asn1022Asp Single submitter ⚠
p.Asn516Ser Single submitter ⚠
p.Asn547Ser Single submitter ⚠
p.Asn810Ser Single submitter ⚠
p.Asn867Ser Single submitter ⚠
p.Asp151Glu Single submitter ⚠
p.Asp244Tyr Single submitter ⚠
p.Asp387His Single submitter ⚠
p.Asp395Glu Single submitter ⚠
p.Asp543Glu Single submitter ⚠
p.Asp900Tyr Single submitter ⚠
p.Asp900Val Single submitter ⚠
p.Asp922Asn Single submitter ⚠
p.Asp933Glu Single submitter ⚠
p.Cys155Phe Single submitter ⚠
p.Cys564Tyr Single submitter
p.Cys618Arg Single submitter ⚠
p.Cys618Ser Single submitter
p.Cys681Ser Single submitter ⚠
p.Cys687Arg Single submitter ⚠
p.Cys71Ser Single submitter ⚠
p.Gln113Pro Single submitter ⚠
p.Gln174Arg Single submitter ⚠
p.Gln444Arg Single submitter ⚠
p.Gln444His Single submitter ⚠
p.Gln843Glu Single submitter ⚠
p.Gln853His Single submitter ⚠
p.Gln907Arg Single submitter ⚠
p.Gln991Glu Single submitter ⚠
p.Glu162Val Single submitter ⚠
p.Glu186Val Single submitter ⚠
p.Glu414Lys Single submitter ⚠
p.Glu441Lys Single submitter ⚠
p.Glu449Asp Single submitter ⚠
p.Glu484Ala Single submitter ⚠
p.Glu525Asp Single submitter ⚠
p.Glu546Lys Single submitter ⚠
p.Gly220Glu Single submitter ⚠
p.Gly435Ser Single submitter ⚠
p.Gly811Ser Single submitter ⚠
p.His178Gln Single submitter ⚠
p.His380Gln Single submitter ⚠
p.His380Tyr Single submitter ⚠
p.His483Asn Single submitter ⚠
p.His51Tyr Single submitter ⚠
p.His522Pro Single submitter ⚠
p.His522Tyr Single submitter ⚠
p.His573Arg Single submitter ⚠
p.His903Arg Single submitter ⚠
p.His91Tyr Single submitter ⚠
p.His977Arg Single submitter ⚠
p.Ile100Leu Single submitter ⚠
p.Ile262Val Single submitter ⚠
p.Ile331Thr Single submitter ⚠
p.Ile458Lys Single submitter ⚠
p.Ile574Leu Single submitter ⚠
p.Ile658Thr Single submitter ⚠
p.Ile872Ser Single submitter ⚠
p.Ile893Thr Single submitter ⚠
p.Ile937Leu Single submitter ⚠
p.Ile937Val Single submitter ⚠
p.Leu119Pro Single submitter ⚠
p.Leu147Val Single submitter ⚠
p.Leu347Val Single submitter ⚠
p.Leu377Pro Single submitter ⚠
p.Leu448Ser Single submitter ⚠
p.Leu690Pro Single submitter ⚠
p.Leu699Phe Single submitter ⚠
p.Lys236Arg Single submitter ⚠
p.Lys300Ile Single submitter ⚠
p.Lys350Glu Single submitter ⚠
p.Lys350Thr Single submitter ⚠
p.Lys517Arg Single submitter ⚠
p.Lys517Thr Single submitter ⚠
p.Lys619Asn Single submitter ⚠
p.Lys83Glu Single submitter ⚠
p.Lys85Arg Single submitter ⚠
p.Lys926Asn Single submitter ⚠
p.Met327Ile Single submitter ⚠
p.Met515Val Single submitter ⚠
p.Phe263Leu Single submitter ⚠
p.Phe303Leu Single submitter ⚠
p.Phe352Leu Single submitter ⚠
p.Phe509Val Single submitter ⚠
p.Phe65Ser Single submitter ⚠
p.Pro1000Ser Single submitter ⚠
p.Pro190Ser Single submitter ⚠
p.Pro242Arg Single submitter ⚠
p.Pro412His Single submitter ⚠
p.Pro538Leu Single submitter ⚠
p.Pro587Ala Single submitter
p.Pro628Ser Single submitter ⚠
p.Pro693Ser Single submitter ⚠
p.Pro719Leu Single submitter ⚠
p.Ser214Cys Single submitter ⚠
p.Ser226Cys Single submitter ⚠
p.Ser228Leu Single submitter ⚠
p.Ser290Leu Single submitter ⚠
p.Ser345Thr Single submitter ⚠
p.Ser59Arg Single submitter ⚠
p.Ser671Arg Single submitter ⚠
p.Ser713Phe Single submitter ⚠
p.Ser999Leu Single submitter ⚠
p.Thr120Ala Single submitter ⚠
p.Thr125Met Single submitter ⚠
p.Thr253Met Single submitter ⚠
p.Thr254Ala Single submitter ⚠
p.Thr279Met Single submitter
p.Thr282Ser Single submitter ⚠
p.Thr293Pro Single submitter
p.Thr344Ile Single submitter ⚠
p.Thr659Met Single submitter ⚠
p.Thr696Ser Single submitter ⚠
p.Thr739Met Single submitter
p.Trp503Cys Single submitter ⚠
p.Trp727Cys Single submitter ⚠
p.Tyr275Cys Single submitter
p.Tyr373Cys Single submitter ⚠
p.Tyr438Cys Single submitter ⚠
p.Tyr665Cys Single submitter ⚠
p.Tyr818Asn Single submitter ⚠
p.Val23Leu Single submitter ⚠
p.Val270Gly Single submitter ⚠
p.Val2Ile Single submitter ⚠
p.Val646Ile Single submitter ⚠