PHYKPL — 105 ClinVar variants
All ClinVar germline PHYKPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
3 Benign · 18 Likely benign · 84 Uncertain significance
Full PHYKPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PHYKPL p.Glu437Val
Uncertain significance
Multiple submitters
phosphohydroxylysinuria
- PHYKPL p.Ala168Val Uncertain significance Single submitter
- PHYKPL p.Ala386Ser Uncertain significance Single submitter
- PHYKPL p.Ala3Pro Uncertain significance Single submitter
- PHYKPL p.Arg15Gly Uncertain significance Single submitter
- PHYKPL p.Arg179Gln Uncertain significance Single submitter
- PHYKPL p.Arg195His Uncertain significance Single submitter
- PHYKPL p.Arg254Gln Uncertain significance Single submitter
- PHYKPL p.Arg254Gly Uncertain significance Single submitter
- PHYKPL p.Arg254Trp Uncertain significance Single submitter
- PHYKPL p.Arg83Gln Uncertain significance Single submitter
- PHYKPL p.Asn184Asp Uncertain significance Single submitter
- PHYKPL p.Asn325Ser Uncertain significance Single submitter
- PHYKPL p.Asp137His Uncertain significance Single submitter
- PHYKPL p.Asp87Glu Uncertain significance Single submitter
- PHYKPL p.Asp91Glu Uncertain significance Single submitter
- PHYKPL p.Cys23Tyr Uncertain significance Single submitter
- PHYKPL p.Gln249His Uncertain significance Single submitter
- PHYKPL p.Gln94His Uncertain significance Single submitter
- PHYKPL p.Glu438Gly Uncertain significance Single submitter
- PHYKPL p.Gly176Ser Uncertain significance Single submitter
- PHYKPL p.Gly219Arg Uncertain significance Single submitter
- PHYKPL p.Gly220Arg Uncertain significance Single submitter
- PHYKPL p.Gly227Asp Uncertain significance Single submitter
- PHYKPL p.Gly312Cys Uncertain significance Single submitter
- PHYKPL p.Gly358Arg Uncertain significance Single submitter
- PHYKPL p.Gly47Arg Uncertain significance Single submitter
- PHYKPL p.His138Tyr Uncertain significance Single submitter
- PHYKPL p.His72Tyr Uncertain significance Single submitter
- PHYKPL p.Ile367Val Uncertain significance Single submitter
- PHYKPL p.Ile372Phe Uncertain significance Single submitter
- PHYKPL p.Ile89Val Uncertain significance Single submitter
- PHYKPL p.Leu18Phe Uncertain significance Single submitter
- PHYKPL p.Lys154Met Uncertain significance Single submitter
- PHYKPL p.Lys329Glu Uncertain significance Single submitter
- PHYKPL p.Lys8Arg Uncertain significance Single submitter
- PHYKPL p.Pro101Arg Uncertain significance Single submitter
- PHYKPL p.Pro101Leu Uncertain significance Single submitter
- PHYKPL p.Pro285Arg Uncertain significance Single submitter
- PHYKPL p.Pro28Arg Uncertain significance Single submitter
- PHYKPL p.Ser199Asn Uncertain significance Single submitter
- PHYKPL p.Ser20Gly Uncertain significance Single submitter
- PHYKPL p.Ser21Thr Uncertain significance Single submitter
- PHYKPL p.Ser21Tyr Uncertain significance Single submitter
- PHYKPL p.Ser316Phe Uncertain significance Single submitter
- PHYKPL p.Thr173Ile Uncertain significance Single submitter
- PHYKPL p.Thr309Met Uncertain significance Single submitter
- PHYKPL p.Thr434Asn Uncertain significance Single submitter
- PHYKPL p.Tyr228Cys Uncertain significance Single submitter
- PHYKPL p.Val270Ile Uncertain significance Single submitter
- PHYKPL p.Val274Ile Uncertain significance Single submitter
- PHYKPL p.Val304Ile Uncertain significance Single submitter
- PHYKPL p.Val440Leu Uncertain significance Single submitter
- PHYKPL p.Val57Met Uncertain significance Single submitter
- PHYKPL p.Val77Met Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- PHYKPL p.Ala139Val Uncertain significance Single submitter
- PHYKPL p.Ala318Thr Uncertain significance Single submitter
- PHYKPL p.Arg125Cys Uncertain significance Single submitter
- PHYKPL p.Arg125His Uncertain significance Single submitter
- PHYKPL p.Arg156Cys Uncertain significance Single submitter
- PHYKPL p.Arg175Gln Uncertain significance Single submitter
- PHYKPL p.Arg17Trp Uncertain significance Single submitter
- PHYKPL p.Arg195Cys Uncertain significance Single submitter
- PHYKPL p.Arg237Leu Uncertain significance Single submitter
- PHYKPL p.Arg36Gln Uncertain significance Single submitter
- PHYKPL p.Arg36Gly Uncertain significance Single submitter
- PHYKPL p.Asn56Ser Uncertain significance Single submitter
- PHYKPL p.Asp30Gly Uncertain significance Single submitter
- PHYKPL p.Glu330Gln Uncertain significance Single submitter
- PHYKPL p.Gly266Glu Uncertain significance Single submitter
- PHYKPL p.Gly303Ser Uncertain significance Single submitter
- PHYKPL p.Ile34Phe Uncertain significance Single submitter
- PHYKPL p.Leu147Val Uncertain significance Single submitter
- PHYKPL p.Leu25Pro Uncertain significance Single submitter
- PHYKPL p.Leu346Phe Uncertain significance Single submitter
- PHYKPL p.Lys439Glu Uncertain significance Single submitter
- PHYKPL p.Pro65Ser Uncertain significance Single submitter
- PHYKPL p.Tyr108Cys Uncertain significance Single submitter
- PHYKPL p.Val133Met Uncertain significance Single submitter
- PHYKPL p.Val167Met Uncertain significance Single submitter
- PHYKPL p.Val196Gly Uncertain significance Single submitter
- PHYKPL p.Val323Ile Uncertain significance Single submitter
- PHYKPL p.Val35Ile Uncertain significance Single submitter
All PHYKPL variants
Benign 3
- p.Ala212Thr No assertion criteria PHYKPL-related disorder
- p.His126Arg No assertion criteria PHYKPL-related disorder
- p.Thr11= No assertion criteria PHYKPL-related disorder
Likely benign 18
- c.179-13G>C Single submitter
- c.413+12T>C Single submitter
- c.59+16dup Single submitter
- c.59+20G>T Single submitter
- p.Ala291Thr Single submitter
- p.Asn191Ser Single submitter
- p.Gln345Glu Single submitter
- p.Glu444Gln Single submitter
- p.Gly348Arg Single submitter
- p.Lys267Glu Single submitter
- p.Ser55Asn Single submitter
- p.Thr337Ala Single submitter
- p.Val35= Single submitter
- p.Val397Ile Single submitter
- c.502-6C>T No assertion criteria PHYKPL-related disorder
- p.Ala139= No assertion criteria PHYKPL-related disorder
- p.Ile356= No assertion criteria PHYKPL-related disorder
- p.Leu392= No assertion criteria PHYKPL-related disorder
Uncertain significance 84
- p.Glu437Val Multiple submitters phosphohydroxylysinuria ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala168Val Single submitter ⚠
- p.Ala318Thr Single submitter ⚠
- p.Ala386Ser Single submitter ⚠
- p.Ala3Pro Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg125His Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg17Trp Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg237Leu Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg254Gly Single submitter ⚠
- p.Arg254Trp Single submitter ⚠
- p.Arg36Gln Single submitter ⚠
- p.Arg36Gly Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Asn184Asp Single submitter ⚠
- p.Asn325Ser Single submitter ⚠
- p.Asn56Ser Single submitter ⚠
- p.Asp137His Single submitter ⚠
- p.Asp30Gly Single submitter ⚠
- p.Asp87Glu Single submitter ⚠
- p.Asp91Glu Single submitter ⚠
- p.Cys23Tyr Single submitter ⚠
- p.Gln249His Single submitter ⚠
- p.Gln94His Single submitter ⚠
- p.Glu330Gln Single submitter ⚠
- p.Glu438Gly Single submitter ⚠
- p.Gly176Ser Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly227Asp Single submitter ⚠
- p.Gly266Glu Single submitter ⚠
- p.Gly303Ser Single submitter ⚠
- p.Gly312Cys Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.His138Tyr Single submitter ⚠
- p.His72Tyr Single submitter ⚠
- p.Ile34Phe Single submitter ⚠
- p.Ile367Val Single submitter ⚠
- p.Ile372Phe Single submitter ⚠
- p.Ile89Val Single submitter ⚠
- p.Leu147Val Single submitter ⚠
- p.Leu18Phe Single submitter ⚠
- p.Leu25Pro Single submitter ⚠
- p.Leu346Phe Single submitter ⚠
- p.Lys154Met Single submitter ⚠
- p.Lys329Glu Single submitter ⚠
- p.Lys439Glu Single submitter ⚠
- p.Lys8Arg Single submitter ⚠
- p.Pro101Arg Single submitter ⚠
- p.Pro101Leu Single submitter ⚠
- p.Pro285Arg Single submitter ⚠
- p.Pro28Arg Single submitter ⚠
- p.Pro65Ser Single submitter ⚠
- p.Ser199Asn Single submitter ⚠
- p.Ser20Gly Single submitter ⚠
- p.Ser21Thr Single submitter ⚠
- p.Ser21Tyr Single submitter ⚠
- p.Ser316Phe Single submitter ⚠
- p.Thr128Met Single submitter
- p.Thr173Ile Single submitter ⚠
- p.Thr309Met Single submitter ⚠
- p.Thr434Asn Single submitter ⚠
- p.Tyr108Cys Single submitter ⚠
- p.Tyr228Cys Single submitter ⚠
- p.Val133Met Single submitter ⚠
- p.Val167Met Single submitter ⚠
- p.Val196Gly Single submitter ⚠
- p.Val270Ile Single submitter ⚠
- p.Val274Ile Single submitter ⚠
- p.Val304Ile Single submitter ⚠
- p.Val323Ile Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val440Leu Single submitter ⚠
- p.Val57Met Single submitter ⚠
- p.Val77Met Single submitter ⚠