Sugi Variant

Sugi Variant/PHKB

PHKB — 1134 ClinVar variants

All ClinVar germline PHKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 329 flagged for review →

63 Pathogenic · 15 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 37 Conflicting · 33 Benign · 20 Benign/Likely benign · 543 Likely benign · 375 Uncertain significance

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

⚑ Evidence disagreements 329

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 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 201

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 201

Predictors split 114

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

All PHKB variants

Pathogenic 63

Pathogenic/Likely pathogenic 15

  • c.1127-2A>G Multiple submitters PHKB-related disorder
  • c.1972-2A>G Multiple submitters glycogen storage disease IXb
  • c.2427+965A>C Multiple submitters glycogen storage disease IX
  • c.306-2A>G Multiple submitters glycogen storage disease IX
  • p.Arg103Ter Multiple submitters glycogen storage disease IX
  • p.Arg768fs Multiple submitters glycogen storage disease IXb
  • p.Arg875Ter Multiple submitters glycogen storage disease IX
  • p.Arg944Ter Multiple submitters PHKB-related disorder
  • p.Gln191fs Multiple submitters glycogen storage disease IXb
  • p.Gln657Ter Multiple submitters PHKB-related disorder
  • p.Gln776Ter Multiple submitters glycogen storage disease IXb
  • p.Gln909Ter Multiple submitters glycogen storage disease IXb
  • p.Glu364Ter Multiple submitters glycogen storage disease IXb
  • p.Glu820fs Multiple submitters glycogen storage disease IXb
  • p.Val175fs Multiple submitters glycogen storage disease IXb

Likely pathogenic 48

  • c.1126+1G>T Single submitter glycogen storage disease IXb
  • c.1126+2T>C Single submitter glycogen storage disease IXb
  • c.1204+1G>T Single submitter glycogen storage disease IXb
  • c.1363+1del Single submitter glycogen storage disease IXb
  • c.1364-1G>A Single submitter glycogen storage disease IXb
  • c.1514+1G>T Single submitter glycogen storage disease IXb
  • c.1514+2T>A Single submitter glycogen storage disease IXb
  • c.1609-2A>C Single submitter glycogen storage disease IXb
  • c.167-6_170del Single submitter glycogen storage disease IXb
  • c.1693-2A>G Single submitter glycogen storage disease IXb
  • c.1797+1G>A Single submitter glycogen storage disease IXb
  • c.1797+1G>C Single submitter glycogen storage disease IXb
  • c.2033+1G>T Single submitter glycogen storage disease IXb
  • c.2278+1G>A Single submitter glycogen storage disease IXb
  • c.2329_2336+5del Single submitter glycogen storage disease IXb
  • c.2336+2T>C Single submitter glycogen storage disease IXb
  • c.2427+1052_2427+1083del Single submitter glycogen storage disease IXb
  • c.2427+1G>A Single submitter glycogen storage disease IXb
  • c.2765+2T>C Single submitter glycogen storage disease IXb
  • c.2766-1G>A Single submitter glycogen storage disease IXb
  • c.2895+1G>A Single submitter glycogen storage disease IXb
  • c.3003+2T>C Single submitter glycogen storage disease IXb
  • c.3004-2A>G Single submitter glycogen storage disease IXb
  • c.305+2T>C Single submitter glycogen storage disease IXb
  • c.405+1G>T Single submitter glycogen storage disease IXb
  • c.513+2T>A Single submitter glycogen storage disease IXb
  • c.514-1G>C Single submitter glycogen storage disease IXb
  • c.514-2del Single submitter glycogen storage disease IXb
  • c.594+1dup Single submitter glycogen storage disease IXb
  • c.595-1G>A Single submitter glycogen storage disease IXb
  • c.710+1G>T Single submitter glycogen storage disease IXb
  • c.76+2523C>G Single submitter glycogen storage disease IXb
  • c.76+2T>C Single submitter glycogen storage disease IXb
  • c.77-1G>A Single submitter glycogen storage disease IXb
  • c.774+1G>T Single submitter glycogen storage disease IXb
  • c.775-1G>A Single submitter glycogen storage disease IXb
  • c.870+1G>T Single submitter glycogen storage disease IXb
  • p.Arg482fs Single submitter glycogen storage disease IXb
  • p.Asp268Asn Single submitter PHKB-related disorder
  • p.Asp318Ter Single submitter glycogen storage disease IXb
  • p.Gln832Ter Single submitter glycogen storage disease IXb
  • p.Glu310Ter Single submitter glycogen storage disease IXb
  • p.Gly648fs Single submitter glycogen storage disease IXb
  • p.Ile557fs Single submitter glycogen storage disease IXb
  • p.Leu283Ter Single submitter glycogen storage disease IXb
  • p.Leu391_Leu392insTer Single submitter glycogen storage disease IXb
  • p.Lys758fs Single submitter glycogen storage disease IXb
  • p.Val591_Leu594delinsAspArgTer Single submitter glycogen storage disease IXb

Conflicting classifications of pathogenicity 37

Benign 33

Benign/Likely benign 20

  • c.1126+14T>G Multiple submitters glycogen storage disease IXb
  • c.1127-14A>G Multiple submitters glycogen storage disease IXb
  • c.1797+8C>T Multiple submitters glycogen storage disease IXb
  • c.1881-52_1881-49del Multiple submitters
  • c.2197-17G>A Multiple submitters glycogen storage disease IXb
  • c.2278+15C>G Multiple submitters glycogen storage disease IXb
  • c.2766-14G>T Multiple submitters glycogen storage disease IXb
  • c.2766-8T>C Multiple submitters glycogen storage disease IXb
  • c.3144+34del Multiple submitters glycogen storage disease IXb
  • c.594+24T>C Multiple submitters
  • c.710+12A>C Multiple submitters glycogen storage disease IXb
  • c.870+10T>A Multiple submitters glycogen storage disease IXb
  • p.Arg1041Trp Multiple submitters glycogen storage disease IXb
  • p.Arg482= Multiple submitters glycogen storage disease IXb
  • p.Glu820Val Multiple submitters glycogen storage disease IXb
  • p.Glu844= Multiple submitters glycogen storage disease IXb
  • p.Met185Ile Multiple submitters glycogen storage disease IXb
  • p.Thr811= Multiple submitters glycogen storage disease IXb
  • p.Tyr167Cys Multiple submitters glycogen storage disease IXb ⚠
  • p.Tyr770Cys Multiple submitters glycogen storage disease IXb ⚠

Likely benign 543

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 375

Showing the top 300 by review status; the full set is in the sitemap.