GHITM — 52 ClinVar variants
All ClinVar germline GHITM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
3 Likely benign · 49 Uncertain significance
Full GHITM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GHITM p.Met129Val Uncertain significance Multiple submitters
- GHITM p.Ala113Ser Uncertain significance Single submitter
- GHITM p.Ala144Thr Uncertain significance Single submitter
- GHITM p.Ala279Ser Uncertain significance Single submitter
- GHITM p.Ala279Val Uncertain significance Single submitter
- GHITM p.Ala302Glu Uncertain significance Single submitter
- GHITM p.Arg301His Uncertain significance Single submitter
- GHITM p.Arg55His Uncertain significance Single submitter
- GHITM p.Arg55Pro Uncertain significance Single submitter
- GHITM p.Arg5Lys Uncertain significance Single submitter
- GHITM p.Arg82Gly Uncertain significance Single submitter
- GHITM p.Asp122Asn Uncertain significance Single submitter
- GHITM p.Glu61Asp Uncertain significance Single submitter
- GHITM p.Gly211Arg Uncertain significance Single submitter
- GHITM p.Ile107Thr Uncertain significance Single submitter
- GHITM p.Ile143Thr Uncertain significance Single submitter
- GHITM p.Ile143Val Uncertain significance Single submitter
- GHITM p.Ile51Thr Uncertain significance Single submitter
- GHITM p.Ile77Thr Uncertain significance Single submitter
- GHITM p.Met152Val Uncertain significance Single submitter
- GHITM p.Met156Ile Uncertain significance Single submitter
- GHITM p.Met307Val Uncertain significance Single submitter
- GHITM p.Met331Leu Uncertain significance Single submitter
- GHITM p.Phe21Val Uncertain significance Single submitter
- GHITM p.Phe256Ser Uncertain significance Single submitter
- GHITM p.Pro188Arg Uncertain significance Single submitter
- GHITM p.Pro247Thr Uncertain significance Single submitter
- GHITM p.Pro306Leu Uncertain significance Single submitter
- GHITM p.Thr33Met Uncertain significance Single submitter
- GHITM p.Thr58Asn Uncertain significance Single submitter
- GHITM p.Trp37Arg Uncertain significance Single submitter
- GHITM p.Tyr323Cys Uncertain significance Single submitter
- GHITM p.Val177Ile Uncertain significance Single submitter
- GHITM p.Val203Leu Uncertain significance Single submitter
- GHITM p.Val255Ile Uncertain significance Single submitter
- GHITM p.Val285Ile Uncertain significance Single submitter
- GHITM p.Val310Ile Uncertain significance Single submitter
- GHITM p.Val91Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- GHITM p.Arg10Trp Uncertain significance Single submitter
- GHITM p.Arg50Ile Uncertain significance Single submitter
- GHITM p.Gly249Glu Uncertain significance Single submitter
- GHITM p.Met155Thr Uncertain significance Single submitter
- GHITM p.Ser321Ile Uncertain significance Single submitter
- GHITM p.Thr127Ile Uncertain significance Single submitter
- GHITM p.Thr148Met Uncertain significance Single submitter
- GHITM p.Val226Met Uncertain significance Single submitter
All GHITM variants
Likely benign 3
- p.Ile135Val Single submitter
- p.Lys300Arg Single submitter
- p.Met280Val Single submitter
Uncertain significance 49
- p.Met129Val Multiple submitters ⚠
- p.Ala109Gly Single submitter
- p.Ala113Ser Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala279Ser Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala302Glu Single submitter ⚠
- p.Arg10Trp Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Arg50Ile Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Arg55Pro Single submitter ⚠
- p.Arg5Lys Single submitter ⚠
- p.Arg82Gly Single submitter ⚠
- p.Asp122Asn Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Gly211Arg Single submitter ⚠
- p.Gly224Val Single submitter
- p.Gly249Glu Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile143Val Single submitter ⚠
- p.Ile51Thr Single submitter ⚠
- p.Ile77Thr Single submitter ⚠
- p.Met152Val Single submitter ⚠
- p.Met155Thr Single submitter ⚠
- p.Met156Ile Single submitter ⚠
- p.Met307Val Single submitter ⚠
- p.Met331Leu Single submitter ⚠
- p.Phe21Val Single submitter ⚠
- p.Phe256Ser Single submitter ⚠
- p.Pro188Arg Single submitter ⚠
- p.Pro247Thr Single submitter ⚠
- p.Pro306Leu Single submitter ⚠
- p.Ser321Ile Single submitter ⚠
- p.Thr127Ile Single submitter ⚠
- p.Thr148Met Single submitter ⚠
- p.Thr268Ile Single submitter
- p.Thr33Met Single submitter ⚠
- p.Thr58Asn Single submitter ⚠
- p.Trp37Arg Single submitter ⚠
- p.Tyr323Cys Single submitter ⚠
- p.Val177Ile Single submitter ⚠
- p.Val203Leu Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val255Ile Single submitter ⚠
- p.Val285Ile Single submitter ⚠
- p.Val310Ile Single submitter ⚠
- p.Val91Ile Single submitter ⚠