EME1 — 80 ClinVar variants
All ClinVar germline EME1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
5 Benign · 8 Likely benign · 67 Uncertain significance
Full EME1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EME1 p.Ala235Val Uncertain significance Single submitter
- EME1 p.Ala24Gly Uncertain significance Single submitter
- EME1 p.Ala423Thr Uncertain significance Single submitter
- EME1 p.Ala59Val Uncertain significance Single submitter
- EME1 p.Arg153Gly Uncertain significance Single submitter
- EME1 p.Arg377Ile Uncertain significance Single submitter
- EME1 p.Arg405Gly Uncertain significance Single submitter
- EME1 p.Arg405Thr Uncertain significance Single submitter
- EME1 p.Arg40Lys Uncertain significance Single submitter
- EME1 p.Arg552Leu Uncertain significance Single submitter
- EME1 p.Asn127Ser Uncertain significance Single submitter
- EME1 p.Asp160Glu Uncertain significance Single submitter
- EME1 p.Asp16Gly Uncertain significance Single submitter
- EME1 p.Asp334Asn Uncertain significance Single submitter
- EME1 p.Gln262Arg Uncertain significance Single submitter
- EME1 p.Gln391Arg Uncertain significance Single submitter
- EME1 p.Gln487Glu Uncertain significance Single submitter
- EME1 p.Gln531Glu Uncertain significance Single submitter
- EME1 p.Glu304Ala Uncertain significance Single submitter
- EME1 p.Glu42Lys Uncertain significance Single submitter
- EME1 p.Glu454Asp Uncertain significance Single submitter
- EME1 p.Gly477Glu Uncertain significance Single submitter
- EME1 p.Ile252Phe Uncertain significance Single submitter
- EME1 p.Ile44Thr Uncertain significance Single submitter
- EME1 p.Leu256Val Uncertain significance Single submitter
- EME1 p.Leu549Pro Uncertain significance Single submitter
- EME1 p.Leu566Ser Uncertain significance Single submitter
- EME1 p.Lys108Asn Uncertain significance Single submitter
- EME1 p.Lys388Glu Uncertain significance Single submitter
- EME1 p.Lys389Gln Uncertain significance Single submitter
- EME1 p.Met337Val Uncertain significance Single submitter
- EME1 p.Pro195Arg Uncertain significance Single submitter
- EME1 p.Pro201Leu Uncertain significance Single submitter
- EME1 p.Pro66Ala Uncertain significance Single submitter
- EME1 p.Pro66Leu Uncertain significance Single submitter
- EME1 p.Pro68Ala Uncertain significance Single submitter
- EME1 p.Ser111Arg Uncertain significance Single submitter
- EME1 p.Ser174Cys Uncertain significance Single submitter
- EME1 p.Ser180Asn Uncertain significance Single submitter
- EME1 p.Ser181Arg Uncertain significance Single submitter
- EME1 p.Ser182Asn Uncertain significance Single submitter
- EME1 p.Ser498Asn Uncertain significance Single submitter
- EME1 p.Ser568Ile Uncertain significance Single submitter
- EME1 p.Thr106Asn Uncertain significance Single submitter
- EME1 p.Thr175Ile Uncertain significance Single submitter
- EME1 p.Thr22Ile Uncertain significance Single submitter
- EME1 p.Thr292Ser Uncertain significance Single submitter
- EME1 p.Thr539Ser Uncertain significance Single submitter
- EME1 p.Val312Ile Uncertain significance Single submitter
- EME1 p.Val426Met Uncertain significance Single submitter
- EME1 p.Val532Gly Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EME1 p.Glu536Lys Uncertain significance Single submitter
- EME1 p.Glu90Lys Uncertain significance Single submitter
- EME1 p.Ile545Thr Uncertain significance Single submitter
- EME1 p.Met324Thr Uncertain significance Single submitter
- EME1 p.Phe321Cys Uncertain significance Single submitter
- EME1 p.Phe435Leu Uncertain significance Single submitter
- EME1 p.Pro288Leu Uncertain significance Single submitter
- EME1 p.Ser519Leu Uncertain significance Single submitter
- EME1 p.Thr419Ile Uncertain significance Single submitter
All EME1 variants
Benign 5
- p.Lys5Asn Multiple submitters
- p.Glu69Asp Single submitter
- p.Ile350Thr Single submitter
- p.Lys137_Pro138insGln Single submitter
- p.Thr311= Single submitter
Likely benign 8
- c.1113-6C>T Single submitter
- p.Ala284Val Single submitter
- p.Asp334Gly Single submitter
- p.Glu277Gln Single submitter
- p.Ile252Val Single submitter
- p.Ile253Val Single submitter
- p.Pro151Ser Single submitter
- p.Pro299Leu Single submitter
Uncertain significance 67
- p.Ile282Thr Multiple submitters
- c.1113-24C>G Single submitter
- c.1113-33G>T Single submitter
- c.1113-34A>G Single submitter
- c.1113-8T>C Single submitter
- p.Ala235Val Single submitter ⚠
- p.Ala24Gly Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Ala59Val Single submitter ⚠
- p.Arg153Gly Single submitter ⚠
- p.Arg377Ile Single submitter ⚠
- p.Arg405Gly Single submitter ⚠
- p.Arg405Thr Single submitter ⚠
- p.Arg40Lys Single submitter ⚠
- p.Arg543Cys Single submitter
- p.Arg552Leu Single submitter ⚠
- p.Asn127Ser Single submitter ⚠
- p.Asp160Glu Single submitter ⚠
- p.Asp16Gly Single submitter ⚠
- p.Asp334Asn Single submitter ⚠
- p.Gln262Arg Single submitter ⚠
- p.Gln391Arg Single submitter ⚠
- p.Gln487Glu Single submitter ⚠
- p.Gln531Glu Single submitter ⚠
- p.Glu304Ala Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Glu454Asp Single submitter ⚠
- p.Glu536Lys Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly477Glu Single submitter ⚠
- p.Ile252Phe Single submitter ⚠
- p.Ile44Thr Single submitter ⚠
- p.Ile545Thr Single submitter ⚠
- p.Leu256Val Single submitter ⚠
- p.Leu549Pro Single submitter ⚠
- p.Leu566Ser Single submitter ⚠
- p.Leu96Pro Single submitter
- p.Lys108Asn Single submitter ⚠
- p.Lys388Glu Single submitter ⚠
- p.Lys389Gln Single submitter ⚠
- p.Met324Thr Single submitter ⚠
- p.Met337Val Single submitter ⚠
- p.Phe321Cys Single submitter ⚠
- p.Phe435Leu Single submitter ⚠
- p.Pro195Arg Single submitter ⚠
- p.Pro201Leu Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro66Ala Single submitter ⚠
- p.Pro66Leu Single submitter ⚠
- p.Pro68Ala Single submitter ⚠
- p.Ser111Arg Single submitter ⚠
- p.Ser174Cys Single submitter ⚠
- p.Ser180Asn Single submitter ⚠
- p.Ser181Arg Single submitter ⚠
- p.Ser182Asn Single submitter ⚠
- p.Ser498Asn Single submitter ⚠
- p.Ser519Leu Single submitter ⚠
- p.Ser568Ile Single submitter ⚠
- p.Thr106Asn Single submitter ⚠
- p.Thr175Ile Single submitter ⚠
- p.Thr22Ile Single submitter ⚠
- p.Thr292Ser Single submitter ⚠
- p.Thr419Ile Single submitter ⚠
- p.Thr539Ser Single submitter ⚠
- p.Val312Ile Single submitter ⚠
- p.Val426Met Single submitter ⚠
- p.Val532Gly Single submitter ⚠