CHPF2 — 150 ClinVar variants

All ClinVar germline CHPF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

1 Benign · 1 Benign/Likely benign · 7 Likely benign · 141 Uncertain significance

Full CHPF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 103

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

Predictors split 32

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

All CHPF2 variants

Benign 1

p.Arg254His Multiple submitters

Benign/Likely benign 1

p.Arg460Gln Multiple submitters

Likely benign 7

p.Ala142Thr Single submitter
p.Ala59Thr Single submitter
p.Leu407= Single submitter
p.Phe303= Single submitter
p.Pro504Leu Single submitter
p.Pro82= Single submitter
p.Thr365Ile Single submitter

Uncertain significance 141

p.Ala189Ser Single submitter ⚠
p.Ala216Thr Single submitter ⚠
p.Ala220Thr Single submitter ⚠
p.Ala352Gly Single submitter ⚠
p.Ala406Val Single submitter ⚠
p.Ala547Pro Single submitter ⚠
p.Ala568Val Single submitter ⚠
p.Ala658Thr Single submitter ⚠
p.Arg122Cys Single submitter ⚠
p.Arg138Leu Single submitter ⚠
p.Arg138Trp Single submitter ⚠
p.Arg155Gln Single submitter
p.Arg165His Single submitter ⚠
p.Arg191His Single submitter ⚠
p.Arg221Gln Single submitter ⚠
p.Arg221Trp Single submitter ⚠
p.Arg233Gln Single submitter ⚠
p.Arg233Trp Single submitter ⚠
p.Arg240Gln Single submitter ⚠
p.Arg254Cys Single submitter ⚠
p.Arg261Cys Single submitter ⚠
p.Arg261Ser Single submitter ⚠
p.Arg281Cys Single submitter ⚠
p.Arg281His Single submitter ⚠
p.Arg289Thr Single submitter ⚠
p.Arg2Gln Single submitter ⚠
p.Arg316Gln Single submitter ⚠
p.Arg341Gln Single submitter ⚠
p.Arg341Leu Single submitter ⚠
p.Arg369Cys Single submitter ⚠
p.Arg416Gln Single submitter ⚠
p.Arg416Trp Single submitter ⚠
p.Arg417His Single submitter ⚠
p.Arg421His Single submitter ⚠
p.Arg434Gln Single submitter ⚠
p.Arg434Trp Single submitter ⚠
p.Arg440Gln Single submitter
p.Arg464His Single submitter ⚠
p.Arg470Trp Single submitter ⚠
p.Arg474Gln Single submitter ⚠
p.Arg488Gln Single submitter ⚠
p.Arg518Gln Single submitter ⚠
p.Arg536His Single submitter ⚠
p.Arg554Gln Single submitter ⚠
p.Arg608His Single submitter ⚠
p.Arg60Trp Single submitter ⚠
p.Arg656Pro Single submitter ⚠
p.Arg656Trp Single submitter ⚠
p.Arg685Trp Single submitter ⚠
p.Arg710Trp Single submitter ⚠
p.Arg718Trp Single submitter ⚠
p.Arg71Trp Single submitter ⚠
p.Arg731Gln Single submitter ⚠
p.Arg756Cys Single submitter ⚠
p.Arg90Trp Single submitter ⚠
p.Arg99Cys Single submitter ⚠
p.Asn627Ile Single submitter ⚠
p.Asn627Lys Single submitter ⚠
p.Asn627Ser Single submitter ⚠
p.Asn80Lys Single submitter ⚠
p.Asp174Gly Single submitter ⚠
p.Asp437Asn Single submitter ⚠
p.Asp540Glu Single submitter
p.Asp587Val Single submitter ⚠
p.Asp665Asn Single submitter ⚠
p.Cys223Ser Single submitter ⚠
p.Cys271Phe Single submitter ⚠
p.Gln396Glu Single submitter ⚠
p.Gln396Leu Single submitter ⚠
p.Gln419Arg Single submitter ⚠
p.Gln455His Single submitter ⚠
p.Gln633Glu Single submitter ⚠
p.Glu211Asp Single submitter ⚠
p.Glu218Lys Single submitter ⚠
p.Glu257Lys Single submitter ⚠
p.Glu380Lys Single submitter ⚠
p.Glu443Asp Single submitter ⚠
p.Glu44Gln Single submitter ⚠
p.Glu451Gln Single submitter ⚠
p.Glu508Ala Single submitter ⚠
p.Glu765Gln Single submitter ⚠
p.Gly215Asp Single submitter ⚠
p.Gly270Asp Single submitter ⚠
p.Gly270Ser Single submitter ⚠
p.Gly38Arg Single submitter ⚠
p.Gly530Arg Single submitter ⚠
p.Gly544Glu Single submitter ⚠
p.Gly657Arg Single submitter ⚠
p.Gly754Glu Single submitter ⚠
p.His126Arg Single submitter ⚠
p.His275Gln Single submitter ⚠
p.His275Pro Single submitter ⚠
p.Ile214Asn Single submitter ⚠
p.Ile214Thr Single submitter ⚠
p.Ile264Leu Single submitter ⚠
p.Ile264Thr Single submitter ⚠
p.Ile34Leu Single submitter ⚠
p.Leu116Phe Single submitter ⚠
p.Leu20Val Single submitter ⚠
p.Leu346Val Single submitter ⚠
p.Leu469Pro Single submitter ⚠
p.Leu491Pro Single submitter ⚠
p.Leu604Phe Single submitter ⚠
p.Leu763Val Single submitter ⚠
p.Met160Thr Single submitter ⚠
p.Met314Val Single submitter
p.Met442Leu Single submitter ⚠
p.Met577Thr Single submitter ⚠
p.Phe171Ser Single submitter ⚠
p.Phe171Val Single submitter ⚠
p.Phe384Ser Single submitter ⚠
p.Phe618Ser Single submitter ⚠
p.Phe618Val Single submitter ⚠
p.Pro12Gln Single submitter
p.Pro15Ser Single submitter ⚠
p.Pro190Leu Single submitter ⚠
p.Pro190Thr Single submitter ⚠
p.Pro438Thr Single submitter ⚠
p.Pro539Leu Single submitter ⚠
p.Pro632Leu Single submitter ⚠
p.Pro646Ala Single submitter ⚠
p.Pro74Leu Single submitter ⚠
p.Pro82Ser Single submitter ⚠
p.Ser114Pro Single submitter ⚠
p.Ser232Leu Single submitter ⚠
p.Ser282Leu Single submitter ⚠
p.Ser57Cys Single submitter ⚠
p.Thr123Met Single submitter ⚠
p.Thr487Ile Single submitter ⚠
p.Trp177Cys Single submitter ⚠
p.Tyr133His Single submitter ⚠
p.Tyr433Ser Single submitter ⚠
p.Val104Met Single submitter ⚠
p.Val118Met Single submitter ⚠
p.Val372Leu Single submitter ⚠
p.Val403Met Single submitter
p.Val43Phe Single submitter ⚠
p.Val46Ala Single submitter ⚠
p.Val497Met Single submitter ⚠
p.Val595Ala Single submitter ⚠
p.Val595Met Single submitter ⚠