LDHB — 50 ClinVar variants
All ClinVar germline LDHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Conflicting · 6 Benign · 3 Likely benign · 40 Uncertain significance
Full LDHB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 24
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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LDHB p.Asn250Ser
Uncertain significance
Multiple submitters
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
-
LDHB p.Ile261Thr
Uncertain significance
Multiple submitters
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
-
LDHB p.Ser256Asn
Uncertain significance
Multiple submitters
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- LDHB p.Ala88Pro Uncertain significance Single submitter
- LDHB p.Asn116Thr Uncertain significance Single submitter
- LDHB p.Asn139Ser Uncertain significance Single submitter
- LDHB p.Asp167Asn Uncertain significance Single submitter
- LDHB p.Cys186Tyr Uncertain significance Single submitter
- LDHB p.Glu103Lys Uncertain significance Single submitter
- LDHB p.Gly280Glu Uncertain significance Single submitter
-
LDHB p.Ile243Val
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- LDHB p.Ile253Thr Uncertain significance Single submitter
- LDHB p.Ile284Val Uncertain significance Single submitter
- LDHB p.Leu265Val Uncertain significance Single submitter
- LDHB p.Leu51Pro Uncertain significance Single submitter
-
LDHB p.Lys60Glu
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
-
LDHB p.Met175Val
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
-
LDHB p.Met281Ile
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- LDHB p.Pro293Ala Uncertain significance Single submitter
- LDHB p.Pro76Leu Uncertain significance Single submitter
-
LDHB p.Ser70Arg
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
-
LDHB p.Thr276Ala
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
-
LDHB p.Tyr240Cys
Uncertain significance
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- LDHB p.Val304Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
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LDHB p.Arg158Cys
Likely benign
Single submitter
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- LDHB p.Arg299Trp Uncertain significance Single submitter
- LDHB p.Val236Leu Uncertain significance Single submitter
All LDHB variants
Conflicting classifications of pathogenicity 1
- c.130-8G>A Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Benign 6
- c.713+15A>G Multiple submitters glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Pro293= Multiple submitters glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.130-3_130-2del Single submitter
- c.421+13A>G Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.-81G>C Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Thr145= Single submitter
Likely benign 3
- c.595+16dup Single submitter
- p.Arg158Cys Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Val242= Single submitter
Uncertain significance 40
- p.Asn250Ser Multiple submitters glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Ile261Thr Multiple submitters glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Ser256Asn Multiple submitters glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- c.129+11A>G Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.421+7T>C Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.422-10A>G Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.837+45A>G Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.-34A>G Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.-71C>G Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- c.*73T>C Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Ala176= Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Ala88Pro Single submitter ⚠
- p.Arg299Trp Single submitter ⚠
- p.Asn116Thr Single submitter ⚠
- p.Asn139Ser Single submitter ⚠
- p.Asp167Asn Single submitter ⚠
- p.Asp259Asn Single submitter
- p.Cys186Tyr Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Gly195= Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Gly280Glu Single submitter ⚠
- p.His157Arg Single submitter
- p.Ile125= Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Ile243Val Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Ile253Thr Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Leu265Val Single submitter ⚠
- p.Leu51Pro Single submitter ⚠
- p.Lys233Asn Single submitter
- p.Lys60Glu Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Met175Val Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Met281Ile Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Pro293Ala Single submitter ⚠
- p.Pro76Leu Single submitter ⚠
- p.Ser70Arg Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Thr276Ala Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Tyr240Cys Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ⚠
- p.Val207= Single submitter glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- p.Val236Leu Single submitter ⚠
- p.Val304Ile Single submitter ⚠