GHDC — 88 ClinVar variants
All ClinVar germline GHDC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
6 Likely benign · 82 Uncertain significance
Full GHDC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GHDC p.Ala189Thr Uncertain significance Single submitter
- GHDC p.Ala223Val Uncertain significance Single submitter
- GHDC p.Ala225Gly Uncertain significance Single submitter
- GHDC p.Ala267Val Uncertain significance Single submitter
- GHDC p.Ala286Thr Uncertain significance Single submitter
- GHDC p.Ala291Thr Uncertain significance Single submitter
- GHDC p.Ala414Glu Uncertain significance Single submitter
- GHDC p.Ala436Thr Uncertain significance Single submitter
- GHDC p.Ala444Val Uncertain significance Single submitter
- GHDC p.Ala510Gly Uncertain significance Single submitter
- GHDC p.Arg150His Uncertain significance Single submitter
- GHDC p.Arg234Cys Uncertain significance Single submitter
- GHDC p.Arg234His Uncertain significance Single submitter
- GHDC p.Arg241Trp Uncertain significance Single submitter
- GHDC p.Arg363His Uncertain significance Single submitter
- GHDC p.Arg363Leu Uncertain significance Single submitter
- GHDC p.Arg393Gln Uncertain significance Single submitter
- GHDC p.Arg408Trp Uncertain significance Single submitter
- GHDC p.Arg493Gln Uncertain significance Single submitter
- GHDC p.Arg516Trp Uncertain significance Single submitter
- GHDC p.Arg527Ser Uncertain significance Single submitter
- GHDC p.Arg527Thr Uncertain significance Single submitter
- GHDC p.Arg79Cys Uncertain significance Single submitter
- GHDC p.Arg85Lys Uncertain significance Single submitter
- GHDC p.Asn228Lys Uncertain significance Single submitter
- GHDC p.Asn375His Uncertain significance Single submitter
- GHDC p.Asp457Glu Uncertain significance Single submitter
- GHDC p.Cys73Tyr Uncertain significance Single submitter
- GHDC p.Cys82Phe Uncertain significance Single submitter
- GHDC p.Gln129Lys Uncertain significance Single submitter
- GHDC p.Gln307His Uncertain significance Single submitter
- GHDC p.Gln344Pro Uncertain significance Single submitter
- GHDC p.Gln412Arg Uncertain significance Single submitter
- GHDC p.Glu272Lys Uncertain significance Single submitter
- GHDC p.Glu306Gln Uncertain significance Single submitter
- GHDC p.Gly194Arg Uncertain significance Single submitter
- GHDC p.Gly250Ala Uncertain significance Single submitter
- GHDC p.Gly269Arg Uncertain significance Single submitter
- GHDC p.Gly329Ser Uncertain significance Single submitter
- GHDC p.Gly398Ser Uncertain significance Single submitter
- GHDC p.His37Arg Uncertain significance Single submitter
- GHDC p.His438Arg Uncertain significance Single submitter
- GHDC p.His63Leu Uncertain significance Single submitter
- GHDC p.Leu115Pro Uncertain significance Single submitter
- GHDC p.Leu138Ile Uncertain significance Single submitter
- GHDC p.Leu13Pro Uncertain significance Single submitter
- GHDC p.Leu285Ile Uncertain significance Single submitter
- GHDC p.Leu313Phe Uncertain significance Single submitter
- GHDC p.Leu338Phe Uncertain significance Single submitter
- GHDC p.Leu364Val Uncertain significance Single submitter
- GHDC p.Leu473Met Uncertain significance Single submitter
- GHDC p.Phe475Ser Uncertain significance Single submitter
- GHDC p.Phe507Val Uncertain significance Single submitter
- GHDC p.Pro114Ser Uncertain significance Single submitter
- GHDC p.Pro165Ser Uncertain significance Single submitter
- GHDC p.Pro167Leu Uncertain significance Single submitter
- GHDC p.Pro177Leu Uncertain significance Single submitter
- GHDC p.Pro182Ser Uncertain significance Single submitter
- GHDC p.Pro509Ala Uncertain significance Single submitter
- GHDC p.Pro509Ser Uncertain significance Single submitter
- GHDC p.Ser391Asn Uncertain significance Single submitter
- GHDC p.Ser83Tyr Uncertain significance Single submitter
- GHDC p.Thr100Ile Uncertain significance Single submitter
- GHDC p.Thr155Met Uncertain significance Single submitter
- GHDC p.Thr202Met Uncertain significance Single submitter
- GHDC p.Thr337Ala Uncertain significance Single submitter
- GHDC p.Trp41Gly Uncertain significance Single submitter
- GHDC p.Val368Gly Uncertain significance Single submitter
- GHDC p.Val380Ile Uncertain significance Single submitter
- GHDC p.Val514Ile Uncertain significance Single submitter
- GHDC p.Val529Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- GHDC p.Arg236Trp Uncertain significance Single submitter
- GHDC p.Arg254Trp Uncertain significance Single submitter
- GHDC p.Arg385Ser Uncertain significance Single submitter
- GHDC p.Arg516Pro Uncertain significance Single submitter
- GHDC p.Arg94Trp Uncertain significance Single submitter
- GHDC p.Asp181Val Uncertain significance Single submitter
- GHDC p.Gly227Arg Uncertain significance Single submitter
- GHDC p.Leu240Phe Uncertain significance Single submitter
- GHDC p.Leu429Pro Uncertain significance Single submitter
- GHDC p.Met511Thr Uncertain significance Single submitter
- GHDC p.Phe287Leu Uncertain significance Single submitter
All GHDC variants
Likely benign 6
- p.Ala357Thr Single submitter
- p.Ala444= Single submitter
- p.Ala510Glu Single submitter
- p.Arg356His Single submitter
- p.Arg408Gln Single submitter
- p.Gly278Arg Single submitter
Uncertain significance 82
- p.Ala189Thr Single submitter ⚠
- p.Ala223Val Single submitter ⚠
- p.Ala225Gly Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala286Thr Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala414Glu Single submitter ⚠
- p.Ala436Thr Single submitter ⚠
- p.Ala444Val Single submitter ⚠
- p.Ala510Gly Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg241Trp Single submitter ⚠
- p.Arg254Trp Single submitter ⚠
- p.Arg363His Single submitter ⚠
- p.Arg363Leu Single submitter ⚠
- p.Arg385Ser Single submitter ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg493Gln Single submitter ⚠
- p.Arg516Pro Single submitter ⚠
- p.Arg516Trp Single submitter ⚠
- p.Arg527Ser Single submitter ⚠
- p.Arg527Thr Single submitter ⚠
- p.Arg79Cys Single submitter ⚠
- p.Arg85Lys Single submitter ⚠
- p.Arg94Trp Single submitter ⚠
- p.Asn228Lys Single submitter ⚠
- p.Asn375His Single submitter ⚠
- p.Asp181Val Single submitter ⚠
- p.Asp457Glu Single submitter ⚠
- p.Cys73Tyr Single submitter ⚠
- p.Cys82Phe Single submitter ⚠
- p.Gln129Lys Single submitter ⚠
- p.Gln307His Single submitter ⚠
- p.Gln344Pro Single submitter ⚠
- p.Gln412Arg Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu306Gln Single submitter ⚠
- p.Gly194Arg Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly250Ala Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly329Ser Single submitter ⚠
- p.Gly398Ser Single submitter ⚠
- p.His37Arg Single submitter ⚠
- p.His438Arg Single submitter ⚠
- p.His63Leu Single submitter ⚠
- p.Leu115Pro Single submitter ⚠
- p.Leu138Ile Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu240Phe Single submitter ⚠
- p.Leu285Ile Single submitter ⚠
- p.Leu313Phe Single submitter ⚠
- p.Leu338Phe Single submitter ⚠
- p.Leu364Val Single submitter ⚠
- p.Leu429Pro Single submitter ⚠
- p.Leu473Met Single submitter ⚠
- p.Met511Thr Single submitter ⚠
- p.Phe287Leu Single submitter ⚠
- p.Phe475Ser Single submitter ⚠
- p.Phe507Val Single submitter ⚠
- p.Pro114Ser Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro509Ala Single submitter ⚠
- p.Pro509Ser Single submitter ⚠
- p.Ser391Asn Single submitter ⚠
- p.Ser83Tyr Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr155Met Single submitter ⚠
- p.Thr202Met Single submitter ⚠
- p.Thr337Ala Single submitter ⚠
- p.Trp41Gly Single submitter ⚠
- p.Val368Gly Single submitter ⚠
- p.Val380Ile Single submitter ⚠
- p.Val514Ile Single submitter ⚠
- p.Val529Leu Single submitter ⚠