EIF3H — 43 ClinVar variants
All ClinVar germline EIF3H variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
43 Uncertain significance
Full EIF3H gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF3H p.Ala190Ser Uncertain significance Single submitter
- EIF3H p.Ala225Ser Uncertain significance Single submitter
- EIF3H p.Ala312Thr Uncertain significance Single submitter
- EIF3H p.Arg249Lys Uncertain significance Single submitter
- EIF3H p.Arg75Gln Uncertain significance Single submitter
- EIF3H p.Asn351Ser Uncertain significance Single submitter
- EIF3H p.Gln279Leu Uncertain significance Single submitter
- EIF3H p.Glu175Asp Uncertain significance Single submitter
- EIF3H p.Gly27Ser Uncertain significance Single submitter
- EIF3H p.Gly30Ser Uncertain significance Single submitter
- EIF3H p.Gly7Ala Uncertain significance Single submitter
- EIF3H p.Gly7Asp Uncertain significance Single submitter
- EIF3H p.Gly7Val Uncertain significance Single submitter
- EIF3H p.Gly9Ser Uncertain significance Single submitter
- EIF3H p.Gly9Val Uncertain significance Single submitter
- EIF3H p.Ile330Val Uncertain significance Single submitter
- EIF3H p.Leu245Phe Uncertain significance Single submitter
- EIF3H p.Leu301Val Uncertain significance Single submitter
- EIF3H p.Leu44Phe Uncertain significance Single submitter
- EIF3H p.Lys172Gln Uncertain significance Single submitter
- EIF3H p.Lys24Glu Uncertain significance Single submitter
- EIF3H p.Lys331Arg Uncertain significance Single submitter
- EIF3H p.Lys37Glu Uncertain significance Single submitter
- EIF3H p.Pro184Ser Uncertain significance Single submitter
- EIF3H p.Pro202Leu Uncertain significance Single submitter
- EIF3H p.Pro308Leu Uncertain significance Single submitter
- EIF3H p.Ser208Ala Uncertain significance Single submitter
- EIF3H p.Thr262Ala Uncertain significance Single submitter
- EIF3H p.Tyr124Cys Uncertain significance Single submitter
- EIF3H p.Val39Gly Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- EIF3H p.Ala2Val Uncertain significance Single submitter
- EIF3H p.Asp315Gly Uncertain significance Single submitter
- EIF3H p.Glu56Gly Uncertain significance Single submitter
- EIF3H p.Gly20Cys Uncertain significance Single submitter
- EIF3H p.His114Asp Uncertain significance Single submitter
- EIF3H p.Met343Ile Uncertain significance Single submitter
- EIF3H p.Ser10Tyr Uncertain significance Single submitter
- EIF3H p.Ser14Cys Uncertain significance Single submitter
- EIF3H p.Ser17Tyr Uncertain significance Single submitter
- EIF3H p.Ser316Leu Uncertain significance Single submitter
-
EIF3H p.Ser17Cys
Uncertain significance
No assertion criteria
autism
All EIF3H variants
Uncertain significance 43
- p.Ala190Ser Single submitter ⚠
- p.Ala225Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala312Thr Single submitter ⚠
- p.Arg249Lys Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Asn351Ser Single submitter ⚠
- p.Asn80Ser Single submitter
- p.Asp315Gly Single submitter ⚠
- p.Gln279Leu Single submitter ⚠
- p.Glu175Asp Single submitter ⚠
- p.Glu56Gly Single submitter ⚠
- p.Gly20Cys Single submitter ⚠
- p.Gly27Ser Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Gly7Ala Single submitter ⚠
- p.Gly7Asp Single submitter ⚠
- p.Gly7Val Single submitter ⚠
- p.Gly9Ser Single submitter ⚠
- p.Gly9Val Single submitter ⚠
- p.His114Asp Single submitter ⚠
- p.Ile330Val Single submitter ⚠
- p.Leu245Phe Single submitter ⚠
- p.Leu301Val Single submitter ⚠
- p.Leu44Phe Single submitter ⚠
- p.Lys172Gln Single submitter ⚠
- p.Lys24Glu Single submitter ⚠
- p.Lys331Arg Single submitter ⚠
- p.Lys37Glu Single submitter ⚠
- p.Met343Ile Single submitter ⚠
- p.Pro184Ser Single submitter ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro308Leu Single submitter ⚠
- p.Pro311Leu Single submitter
- p.Ser10Tyr Single submitter ⚠
- p.Ser14Cys Single submitter ⚠
- p.Ser17Tyr Single submitter ⚠
- p.Ser208Ala Single submitter ⚠
- p.Ser316Leu Single submitter ⚠
- p.Thr262Ala Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Val39Gly Single submitter ⚠
- p.Ser17Cys No assertion criteria autism ⚠