CLPX — 152 ClinVar variants
All ClinVar germline CLPX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →
1 Likely pathogenic · 3 Conflicting · 10 Benign · 2 Benign/Likely benign · 47 Likely benign · 89 Uncertain significance
Full CLPX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 91
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CLPX p.Ala13Val
Uncertain significance
Multiple submitters
protoporphyria, erythropoietic, 2
- CLPX p.Ala65Ser Uncertain significance Multiple submitters
- CLPX p.Arg270Gln Uncertain significance Multiple submitters
- CLPX p.Gln352His Uncertain significance Multiple submitters
- CLPX p.Gln47Arg Uncertain significance Multiple submitters
- CLPX p.Glu539Lys Uncertain significance Multiple submitters
- CLPX p.Glu614Gly Uncertain significance Multiple submitters
- CLPX p.Ser19Ala Uncertain significance Multiple submitters
- CLPX p.Val14Gly Uncertain significance Multiple submitters
- CLPX p.Ala343Gly Uncertain significance Single submitter
- CLPX p.Ala531Thr Uncertain significance Single submitter
- CLPX p.Ala551Asp Uncertain significance Single submitter
- CLPX p.Ala605Thr Uncertain significance Single submitter
- CLPX p.Ala630Ser Uncertain significance Single submitter
- CLPX p.Ala631Thr Uncertain significance Single submitter
- CLPX p.Arg373Trp Uncertain significance Single submitter
- CLPX p.Arg477Gln Uncertain significance Single submitter
- CLPX p.Arg485Gly Uncertain significance Single submitter
- CLPX p.Arg51Ser Uncertain significance Single submitter
- CLPX p.Asn414Asp Uncertain significance Single submitter
- CLPX p.Asn467Asp Uncertain significance Single submitter
- CLPX p.Asp110Glu Uncertain significance Single submitter
- CLPX p.Asp583His Uncertain significance Single submitter
- CLPX p.Cys319Arg Uncertain significance Single submitter
- CLPX p.Gln102Arg Uncertain significance Single submitter
- CLPX p.Gln162Glu Uncertain significance Single submitter
- CLPX p.Gly10Ala Uncertain significance Single submitter
- CLPX p.Gly379Asp Uncertain significance Single submitter
- CLPX p.Gly464Glu Uncertain significance Single submitter
- CLPX p.Gly623Glu Uncertain significance Single submitter
- CLPX p.His469Tyr Uncertain significance Single submitter
- CLPX p.Ile146Val Uncertain significance Single submitter
- CLPX p.Ile147Val Uncertain significance Single submitter
- CLPX p.Ile567Met Uncertain significance Single submitter
- CLPX p.Ile603Val Uncertain significance Single submitter
- CLPX p.Leu16Arg Uncertain significance Single submitter
- CLPX p.Leu388Pro Uncertain significance Single submitter
- CLPX p.Lys143Arg Uncertain significance Single submitter
- CLPX p.Lys475Arg Uncertain significance Single submitter
- CLPX p.Met257Val Uncertain significance Single submitter
- CLPX p.Phe417Leu Uncertain significance Single submitter
- CLPX p.Pro106Ser Uncertain significance Single submitter
- CLPX p.Ser142Leu Uncertain significance Single submitter
- CLPX p.Ser466Leu Uncertain significance Single submitter
- CLPX p.Ser633Thr Uncertain significance Single submitter
- CLPX p.Thr238Ala Uncertain significance Single submitter
- CLPX p.Thr43Ile Uncertain significance Single submitter
- CLPX p.Thr8Ala Uncertain significance Single submitter
- CLPX p.Val215Ala Uncertain significance Single submitter
- CLPX p.Val360Ala Uncertain significance Single submitter
- CLPX p.Val418Met Uncertain significance Single submitter
- CLPX p.Val585Ile Uncertain significance Single submitter
-
CLPX p.Ser420Pro
Uncertain significance
No assertion criteria
CLPX-related disorder
Predictors split 37
The independent predictors disagree with each other — read with care.
- CLPX p.Asn424Ser Uncertain significance Multiple submitters
- CLPX p.Gly100Arg Uncertain significance Multiple submitters
- CLPX p.Ile201Leu Uncertain significance Multiple submitters
- CLPX p.Ala13Ser Uncertain significance Single submitter
- CLPX p.Ala13Thr Uncertain significance Single submitter
- CLPX p.Ala156Val Uncertain significance Single submitter
- CLPX p.Ala454Val Uncertain significance Single submitter
- CLPX p.Ala531Val Uncertain significance Single submitter
- CLPX p.Arg104Cys Likely benign Single submitter
- CLPX p.Arg123His Uncertain significance Single submitter
- CLPX p.Arg210Gly Uncertain significance Single submitter
- CLPX p.Arg32Pro Benign Single submitter
- CLPX p.Arg477Trp Uncertain significance Single submitter
- CLPX p.Arg480Cys Uncertain significance Single submitter
- CLPX p.Arg604Gly Uncertain significance Single submitter
- CLPX p.Asn344Lys Uncertain significance Single submitter
- CLPX p.Asp458Val Uncertain significance Single submitter
- CLPX p.Glu128Lys Uncertain significance Single submitter
- CLPX p.Glu155Lys Conflicting Single submitter
- CLPX p.Glu592Gly Uncertain significance Single submitter
- CLPX p.Gly250Asp Uncertain significance Single submitter
- CLPX p.Gly254Val Uncertain significance Single submitter
- CLPX p.Ile316Val Conflicting Single submitter
- CLPX p.Ile603Asn Uncertain significance Single submitter
- CLPX p.Leu16Ile Uncertain significance Single submitter
- CLPX p.Leu459Phe Uncertain significance Single submitter
- CLPX p.Lys129Glu Uncertain significance Single submitter
- CLPX p.Pro165Ser Uncertain significance Single submitter
- CLPX p.Ser184Pro Uncertain significance Single submitter
- CLPX p.Ser19Phe Likely benign Single submitter
- CLPX p.Thr122Ala Uncertain significance Single submitter
- CLPX p.Thr122Asn Uncertain significance Single submitter
- CLPX p.Thr219Ile Uncertain significance Single submitter
- CLPX p.Thr413Ala Uncertain significance Single submitter
- CLPX p.Thr46Ile Likely benign Single submitter
- CLPX p.Tyr173Cys Uncertain significance Single submitter
- CLPX p.Val347Met Uncertain significance Single submitter
All CLPX variants
Likely pathogenic 1
- p.Gly298Asp Single submitter protoporphyria, erythropoietic, 2
Conflicting classifications of pathogenicity 3
- p.Glu155Lys Single submitter ⚠
- p.Ile316Val Single submitter ⚠
- p.Ile488Thr Single submitter ⚠
Benign 10
- c.240+17A>G Multiple submitters
- p.His481= Multiple submitters
- p.Leu384= Multiple submitters
- p.Ser466= Multiple submitters
- c.1312-16A>C Single submitter
- p.Ala213= Single submitter
- p.Arg32Pro Single submitter ⚠
- p.Arg565= Single submitter
- p.Glu588Val Single submitter
- p.Gly329= Single submitter
Benign/Likely benign 2
- c.1146+13G>A Multiple submitters protoporphyria, erythropoietic, 2
- p.Gly250Ser Multiple submitters
Likely benign 47
- c.1058-13C>T Single submitter
- c.1146+11G>A Single submitter
- c.1147-17A>C Single submitter
- c.1311+10T>C Single submitter
- c.1312-4G>T Single submitter
- c.1611+19G>A Single submitter
- c.1612-8A>G Single submitter
- c.1705-6C>A Single submitter
- c.1812-16T>C Single submitter
- c.1812-17A>G Single submitter
- c.359-15T>C Single submitter
- c.513+10_513+13dup Single submitter
- c.674-15C>T Single submitter
- c.674-20A>G Single submitter
- c.892+8A>T Single submitter
- c.893-8A>G Single submitter
- p.Ala11= Single submitter
- p.Ala140= Single submitter
- p.Ala24= Single submitter
- p.Ala460= Single submitter
- p.Arg104Cys Single submitter ⚠
- p.Arg15= Single submitter
- p.Asn346= Single submitter
- p.Asn435= Single submitter
- p.Gln371= Single submitter
- p.Glu495= Single submitter
- p.Gly10= Single submitter
- p.Gly109= Single submitter
- p.Gly563= Single submitter
- p.Gly596= Single submitter
- p.Gly601= Single submitter
- p.Gly618= Single submitter
- p.Gly97= Single submitter
- p.Ile429= Single submitter
- p.Leu49= Single submitter
- p.Pro168= Single submitter
- p.Ser19Phe Single submitter ⚠
- p.Ser88= Single submitter
- p.Thr18= Single submitter
- p.Thr46Ile Single submitter ⚠
- p.Tyr529= Single submitter
- p.Val115= Single submitter
- p.Val14= Single submitter
- p.Val14Ala Single submitter
- p.Val355= Single submitter
- p.Val585= Single submitter
- c.*6C>T No assertion criteria CLPX-related disorder
Uncertain significance 89
- p.Ala13Val Multiple submitters protoporphyria, erythropoietic, 2 ⚠
- p.Ala65Ser Multiple submitters ⚠
- p.Arg270Gln Multiple submitters ⚠
- p.Asn424Ser Multiple submitters ⚠
- p.Gln352His Multiple submitters ⚠
- p.Gln47Arg Multiple submitters ⚠
- p.Glu539Lys Multiple submitters ⚠
- p.Glu614Gly Multiple submitters ⚠
- p.Gly100Arg Multiple submitters ⚠
- p.Ile201Leu Multiple submitters ⚠
- p.Ser19Ala Multiple submitters ⚠
- p.Val14Gly Multiple submitters ⚠
- c.513+4T>C Single submitter
- c.513+5A>G Single submitter
- c.673+13A>G Single submitter
- c.673+4G>A Single submitter
- p.Ala13Ser Single submitter ⚠
- p.Ala13Thr Single submitter ⚠
- p.Ala156Val Single submitter ⚠
- p.Ala343Gly Single submitter ⚠
- p.Ala454Val Single submitter ⚠
- p.Ala531Thr Single submitter ⚠
- p.Ala531Val Single submitter ⚠
- p.Ala551Asp Single submitter ⚠
- p.Ala605Thr Single submitter ⚠
- p.Ala630Ser Single submitter ⚠
- p.Ala631Thr Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg210Gly Single submitter ⚠
- p.Arg373Trp Single submitter ⚠
- p.Arg477Gln Single submitter ⚠
- p.Arg477Trp Single submitter ⚠
- p.Arg480Cys Single submitter ⚠
- p.Arg485Gly Single submitter ⚠
- p.Arg51Ser Single submitter ⚠
- p.Arg604Gly Single submitter ⚠
- p.Asn344Lys Single submitter ⚠
- p.Asn414Asp Single submitter ⚠
- p.Asn467Asp Single submitter ⚠
- p.Asp110Glu Single submitter ⚠
- p.Asp458Val Single submitter ⚠
- p.Asp583His Single submitter ⚠
- p.Cys319Arg Single submitter ⚠
- p.Gln102Arg Single submitter ⚠
- p.Gln162Glu Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu592Gly Single submitter ⚠
- p.Glu622del Single submitter
- p.Gly10Ala Single submitter ⚠
- p.Gly250Asp Single submitter ⚠
- p.Gly254Val Single submitter ⚠
- p.Gly379Asp Single submitter ⚠
- p.Gly464Glu Single submitter ⚠
- p.Gly623Glu Single submitter ⚠
- p.His469Tyr Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Ile567Met Single submitter ⚠
- p.Ile603Asn Single submitter ⚠
- p.Ile603Val Single submitter ⚠
- p.Leu16Arg Single submitter ⚠
- p.Leu16Ile Single submitter ⚠
- p.Leu388Pro Single submitter ⚠
- p.Leu459Phe Single submitter ⚠
- p.Lys129Glu Single submitter ⚠
- p.Lys143Arg Single submitter ⚠
- p.Lys475Arg Single submitter ⚠
- p.Met257Val Single submitter ⚠
- p.Phe417Leu Single submitter ⚠
- p.Pro106Ser Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Ser142Leu Single submitter ⚠
- p.Ser184Pro Single submitter ⚠
- p.Ser466Leu Single submitter ⚠
- p.Ser633Thr Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr122Asn Single submitter ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr238Ala Single submitter ⚠
- p.Thr413Ala Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Thr8Ala Single submitter ⚠
- p.Tyr173Cys Single submitter ⚠
- p.Val215Ala Single submitter ⚠
- p.Val347Met Single submitter ⚠
- p.Val360Ala Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val585Ile Single submitter ⚠
- p.Ser420Pro No assertion criteria CLPX-related disorder ⚠