CHPF — 128 ClinVar variants
All ClinVar germline CHPF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
1 Benign · 1 Benign/Likely benign · 3 Likely benign · 123 Uncertain significance
Full CHPF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHPF p.Ala206Ser Uncertain significance Single submitter
- CHPF p.Ala341Thr Uncertain significance Single submitter
- CHPF p.Ala516Val Uncertain significance Single submitter
- CHPF p.Ala722Val Uncertain significance Single submitter
- CHPF p.Ala738Thr Uncertain significance Single submitter
- CHPF p.Arg281Gly Uncertain significance Single submitter
- CHPF p.Arg319Gln Uncertain significance Single submitter
- CHPF p.Arg342Gln Uncertain significance Single submitter
- CHPF p.Arg436His Uncertain significance Single submitter
- CHPF p.Arg489Trp Uncertain significance Single submitter
- CHPF p.Arg493His Uncertain significance Single submitter
- CHPF p.Arg507His Uncertain significance Single submitter
- CHPF p.Arg556His Uncertain significance Single submitter
- CHPF p.Arg581Gln Uncertain significance Single submitter
- CHPF p.Arg61Pro Uncertain significance Single submitter
- CHPF p.Arg629His Uncertain significance Single submitter
- CHPF p.Asn57Ser Uncertain significance Single submitter
- CHPF p.Asp285Asn Uncertain significance Single submitter
- CHPF p.Asp395His Uncertain significance Single submitter
- CHPF p.Gln258Arg Uncertain significance Single submitter
- CHPF p.Gln353Arg Uncertain significance Single submitter
- CHPF p.Gln637His Uncertain significance Single submitter
- CHPF p.Gln697Arg Uncertain significance Single submitter
- CHPF p.Glu236Gly Uncertain significance Single submitter
- CHPF p.Glu358Gly Uncertain significance Single submitter
- CHPF p.Glu431Gly Uncertain significance Single submitter
- CHPF p.Glu676Lys Uncertain significance Single submitter
- CHPF p.Glu696Gln Uncertain significance Single submitter
- CHPF p.Glu698Gln Uncertain significance Single submitter
- CHPF p.Glu698Lys Uncertain significance Single submitter
- CHPF p.Glu699Gln Uncertain significance Single submitter
- CHPF p.Glu770Lys Uncertain significance Single submitter
- CHPF p.Glu85Gln Uncertain significance Single submitter
- CHPF p.Gly214Arg Uncertain significance Single submitter
- CHPF p.Gly240Ser Uncertain significance Single submitter
- CHPF p.Gly416Arg Uncertain significance Single submitter
- CHPF p.Gly615Arg Uncertain significance Single submitter
- CHPF p.Gly772Ser Uncertain significance Single submitter
- CHPF p.Gly77Arg Uncertain significance Single submitter
- CHPF p.His207Gln Uncertain significance Single submitter
- CHPF p.His223Arg Uncertain significance Single submitter
- CHPF p.His92Asp Uncertain significance Single submitter
- CHPF p.Ile174Thr Uncertain significance Single submitter
- CHPF p.Leu595Val Uncertain significance Single submitter
- CHPF p.Leu662Val Uncertain significance Single submitter
- CHPF p.Met642Ile Uncertain significance Single submitter
- CHPF p.Phe195Leu Uncertain significance Single submitter
- CHPF p.Phe711Ile Uncertain significance Single submitter
- CHPF p.Pro239Ala Uncertain significance Single submitter
- CHPF p.Pro490Leu Uncertain significance Single submitter
- CHPF p.Pro565Ser Uncertain significance Single submitter
- CHPF p.Pro725Leu Uncertain significance Single submitter
- CHPF p.Ser741Gly Uncertain significance Single submitter
- CHPF p.Thr167Ala Uncertain significance Single submitter
- CHPF p.Thr292Ser Uncertain significance Single submitter
- CHPF p.Thr509Ala Uncertain significance Single submitter
- CHPF p.Tyr501His Uncertain significance Single submitter
- CHPF p.Val137Leu Uncertain significance Single submitter
- CHPF p.Val570Ala Uncertain significance Single submitter
- CHPF p.Val685Leu Uncertain significance Single submitter
- CHPF p.Val752Met Uncertain significance Single submitter
Predictors split 64
The independent predictors disagree with each other — read with care.
- CHPF p.Ala286Val Uncertain significance Single submitter
- CHPF p.Ala343Gly Uncertain significance Single submitter
- CHPF p.Ala530Gly Uncertain significance Single submitter
- CHPF p.Ala539Val Uncertain significance Single submitter
- CHPF p.Ala564Thr Uncertain significance Single submitter
- CHPF p.Ala686Val Uncertain significance Single submitter
- CHPF p.Arg139Leu Uncertain significance Single submitter
- CHPF p.Arg342Gly Uncertain significance Single submitter
- CHPF p.Arg384His Uncertain significance Single submitter
- CHPF p.Arg393His Uncertain significance Single submitter
- CHPF p.Arg393Leu Uncertain significance Single submitter
- CHPF p.Arg411His Uncertain significance Single submitter
- CHPF p.Arg415Cys Uncertain significance Single submitter
- CHPF p.Arg419Trp Uncertain significance Single submitter
- CHPF p.Arg436Cys Uncertain significance Single submitter
- CHPF p.Arg442Trp Uncertain significance Single submitter
- CHPF p.Arg478Cys Uncertain significance Single submitter
- CHPF p.Arg478His Uncertain significance Single submitter
- CHPF p.Arg483Cys Uncertain significance Single submitter
- CHPF p.Arg483His Uncertain significance Single submitter
- CHPF p.Arg519Cys Uncertain significance Single submitter
- CHPF p.Arg519His Uncertain significance Single submitter
- CHPF p.Arg552Cys Uncertain significance Single submitter
- CHPF p.Arg576His Uncertain significance Single submitter
- CHPF p.Arg596Cys Uncertain significance Single submitter
- CHPF p.Arg596His Uncertain significance Single submitter
- CHPF p.Arg627His Uncertain significance Single submitter
- CHPF p.Arg690His Uncertain significance Single submitter
- CHPF p.Arg71Cys Uncertain significance Single submitter
- CHPF p.Arg730His Uncertain significance Single submitter
- CHPF p.Arg732Trp Uncertain significance Single submitter
- CHPF p.Arg739Met Uncertain significance Single submitter
- CHPF p.Arg747Cys Uncertain significance Single submitter
- CHPF p.Arg747His Uncertain significance Single submitter
- CHPF p.Arg747Leu Uncertain significance Single submitter
- CHPF p.Arg759Gln Uncertain significance Single submitter
- CHPF p.Asp395Gly Uncertain significance Single submitter
- CHPF p.Asp424Asn Uncertain significance Single submitter
- CHPF p.Asp538Asn Uncertain significance Single submitter
- CHPF p.Glu700Lys Uncertain significance Single submitter
- CHPF p.Glu700Val Uncertain significance Single submitter
- CHPF p.Gly288Trp Uncertain significance Single submitter
- CHPF p.Gly658Glu Uncertain significance Single submitter
- CHPF p.Gly757Ser Uncertain significance Single submitter
- CHPF p.Leu10Arg Uncertain significance Single submitter
- CHPF p.Leu303Met Uncertain significance Single submitter
- CHPF p.Leu701Pro Uncertain significance Single submitter
- CHPF p.Leu712Phe Uncertain significance Single submitter
- CHPF p.Pro15Thr Uncertain significance Single submitter
- CHPF p.Pro229Thr Uncertain significance Single submitter
- CHPF p.Pro316Leu Likely benign Single submitter
- CHPF p.Pro498Ser Uncertain significance Single submitter
- CHPF p.Pro565Leu Uncertain significance Single submitter
- CHPF p.Pro592Arg Uncertain significance Single submitter
- CHPF p.Pro606Leu Uncertain significance Single submitter
- CHPF p.Pro649Arg Uncertain significance Single submitter
- CHPF p.Ser30Arg Uncertain significance Single submitter
- CHPF p.Thr618Met Uncertain significance Single submitter
- CHPF p.Thr621Met Uncertain significance Single submitter
- CHPF p.Thr760Asn Uncertain significance Single submitter
- CHPF p.Tyr745Ser Uncertain significance Single submitter
- CHPF p.Val367Ile Likely benign Single submitter
- CHPF p.Val377Met Uncertain significance Single submitter
- CHPF p.Val9Met Uncertain significance Single submitter
All CHPF variants
Benign 1
- p.Glu699= Multiple submitters
Benign/Likely benign 1
- p.Ser48Pro Multiple submitters
Likely benign 3
- p.Pro316Leu Single submitter ⚠
- p.Ser716Gly Single submitter
- p.Val367Ile Single submitter ⚠
Uncertain significance 123
- p.Ala206Ser Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala343Gly Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Ala530Gly Single submitter ⚠
- p.Ala539Val Single submitter ⚠
- p.Ala564Thr Single submitter ⚠
- p.Ala686Val Single submitter ⚠
- p.Ala722Val Single submitter ⚠
- p.Ala738Thr Single submitter ⚠
- p.Arg139Leu Single submitter ⚠
- p.Arg281Gly Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg342Gly Single submitter ⚠
- p.Arg384His Single submitter ⚠
- p.Arg393His Single submitter ⚠
- p.Arg393Leu Single submitter ⚠
- p.Arg411His Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg419Trp Single submitter ⚠
- p.Arg436Cys Single submitter ⚠
- p.Arg436His Single submitter ⚠
- p.Arg442Trp Single submitter ⚠
- p.Arg478Cys Single submitter ⚠
- p.Arg478His Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg489Trp Single submitter ⚠
- p.Arg493His Single submitter ⚠
- p.Arg507His Single submitter ⚠
- p.Arg519Cys Single submitter ⚠
- p.Arg519His Single submitter ⚠
- p.Arg552Cys Single submitter ⚠
- p.Arg556His Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg581Gln Single submitter ⚠
- p.Arg596Cys Single submitter ⚠
- p.Arg596His Single submitter ⚠
- p.Arg61Pro Single submitter ⚠
- p.Arg627His Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Arg690His Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Arg730His Single submitter ⚠
- p.Arg732Trp Single submitter ⚠
- p.Arg739Met Single submitter ⚠
- p.Arg747Cys Single submitter ⚠
- p.Arg747His Single submitter ⚠
- p.Arg747Leu Single submitter ⚠
- p.Arg759Gln Single submitter ⚠
- p.Asn57Ser Single submitter ⚠
- p.Asp285Asn Single submitter ⚠
- p.Asp395Gly Single submitter ⚠
- p.Asp395His Single submitter ⚠
- p.Asp424Asn Single submitter ⚠
- p.Asp538Asn Single submitter ⚠
- p.Gln258Arg Single submitter ⚠
- p.Gln353Arg Single submitter ⚠
- p.Gln637His Single submitter ⚠
- p.Gln697Arg Single submitter ⚠
- p.Glu236Gly Single submitter ⚠
- p.Glu358Gly Single submitter ⚠
- p.Glu431Gly Single submitter ⚠
- p.Glu676Lys Single submitter ⚠
- p.Glu696Gln Single submitter ⚠
- p.Glu698Gln Single submitter ⚠
- p.Glu698Lys Single submitter ⚠
- p.Glu699Gln Single submitter ⚠
- p.Glu700Lys Single submitter ⚠
- p.Glu700Val Single submitter ⚠
- p.Glu770Lys Single submitter ⚠
- p.Glu85Gln Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly240Ser Single submitter ⚠
- p.Gly288Trp Single submitter ⚠
- p.Gly416Arg Single submitter ⚠
- p.Gly615Arg Single submitter ⚠
- p.Gly658Glu Single submitter ⚠
- p.Gly757Ser Single submitter ⚠
- p.Gly772Ser Single submitter ⚠
- p.Gly77Arg Single submitter ⚠
- p.His207Gln Single submitter ⚠
- p.His223Arg Single submitter ⚠
- p.His92Asp Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Leu10Arg Single submitter ⚠
- p.Leu303Met Single submitter ⚠
- p.Leu595Val Single submitter ⚠
- p.Leu662Val Single submitter ⚠
- p.Leu701Pro Single submitter ⚠
- p.Leu712Phe Single submitter ⚠
- p.Met642Ile Single submitter ⚠
- p.Phe195Leu Single submitter ⚠
- p.Phe711Ile Single submitter ⚠
- p.Pro15Thr Single submitter ⚠
- p.Pro229Thr Single submitter ⚠
- p.Pro239Ala Single submitter ⚠
- p.Pro490Leu Single submitter ⚠
- p.Pro498Ser Single submitter ⚠
- p.Pro565Leu Single submitter ⚠
- p.Pro565Ser Single submitter ⚠
- p.Pro592Arg Single submitter ⚠
- p.Pro606Leu Single submitter ⚠
- p.Pro649Arg Single submitter ⚠
- p.Pro725Leu Single submitter ⚠
- p.Ser30Arg Single submitter ⚠
- p.Ser741Gly Single submitter ⚠
- p.Thr167Ala Single submitter ⚠
- p.Thr292Ser Single submitter ⚠
- p.Thr509Ala Single submitter ⚠
- p.Thr618Met Single submitter ⚠
- p.Thr621Met Single submitter ⚠
- p.Thr760Asn Single submitter ⚠
- p.Tyr501His Single submitter ⚠
- p.Tyr745Ser Single submitter ⚠
- p.Val137Leu Single submitter ⚠
- p.Val377Met Single submitter ⚠
- p.Val570Ala Single submitter ⚠
- p.Val685Leu Single submitter ⚠
- p.Val752Met Single submitter ⚠
- p.Val9Met Single submitter ⚠