ERMP1 — 139 ClinVar variants
All ClinVar germline ERMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →
5 Benign · 4 Likely benign · 130 Uncertain significance
Full ERMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 132
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 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERMP1 p.Ala109Gly Uncertain significance Single submitter
- ERMP1 p.Ala112Thr Uncertain significance Single submitter
- ERMP1 p.Ala306Pro Uncertain significance Single submitter
- ERMP1 p.Ala33Val Uncertain significance Single submitter
- ERMP1 p.Ala35Thr Uncertain significance Single submitter
- ERMP1 p.Ala389Thr Uncertain significance Single submitter
- ERMP1 p.Ala510Val Uncertain significance Single submitter
- ERMP1 p.Ala558Val Uncertain significance Single submitter
- ERMP1 p.Ala842Val Uncertain significance Single submitter
- ERMP1 p.Ala8Gly Uncertain significance Single submitter
- ERMP1 p.Arg272His Uncertain significance Single submitter
- ERMP1 p.Arg62Ser Uncertain significance Single submitter
- ERMP1 p.Arg705Gln Uncertain significance Single submitter
- ERMP1 p.Arg734Gln Uncertain significance Single submitter
- ERMP1 p.Arg770Lys Uncertain significance Single submitter
- ERMP1 p.Asn211Asp Uncertain significance Single submitter
- ERMP1 p.Asn712Ser Uncertain significance Single submitter
- ERMP1 p.Asn819Ser Uncertain significance Single submitter
- ERMP1 p.Asp171Asn Uncertain significance Single submitter
- ERMP1 p.Asp194Gly Uncertain significance Single submitter
- ERMP1 p.Asp706Ala Uncertain significance Single submitter
- ERMP1 p.Asp873Asn Uncertain significance Single submitter
- ERMP1 p.Cys204Ser Uncertain significance Single submitter
- ERMP1 p.Cys43Phe Uncertain significance Single submitter
- ERMP1 p.Cys493Phe Uncertain significance Single submitter
- ERMP1 p.Glu699Lys Uncertain significance Single submitter
- ERMP1 p.Glu739Gln Uncertain significance Single submitter
- ERMP1 p.Gly214Asp Uncertain significance Single submitter
- ERMP1 p.Gly22Ala Uncertain significance Single submitter
- ERMP1 p.Gly22Glu Uncertain significance Single submitter
- ERMP1 p.Gly455Arg Uncertain significance Single submitter
- ERMP1 p.Gly47Arg Uncertain significance Single submitter
- ERMP1 p.Gly56Ala Uncertain significance Single submitter
- ERMP1 p.Gly67Arg Uncertain significance Single submitter
- ERMP1 p.His441Arg Uncertain significance Single submitter
- ERMP1 p.His855Asn Uncertain significance Single submitter
- ERMP1 p.Ile134Val Uncertain significance Single submitter
- ERMP1 p.Ile183Val Uncertain significance Single submitter
- ERMP1 p.Ile275Val Uncertain significance Single submitter
- ERMP1 p.Ile419Leu Uncertain significance Single submitter
- ERMP1 p.Ile419Phe Uncertain significance Single submitter
- ERMP1 p.Ile419Val Uncertain significance Single submitter
- ERMP1 p.Ile552Val Uncertain significance Single submitter
- ERMP1 p.Ile729Phe Uncertain significance Single submitter
- ERMP1 p.Leu494Val Uncertain significance Single submitter
- ERMP1 p.Leu743Val Uncertain significance Single submitter
- ERMP1 p.Leu750Ile Uncertain significance Single submitter
- ERMP1 p.Leu882Val Uncertain significance Single submitter
- ERMP1 p.Lys285Arg Uncertain significance Single submitter
- ERMP1 p.Lys435Gln Uncertain significance Single submitter
- ERMP1 p.Met387Val Uncertain significance Single submitter
- ERMP1 p.Met632Val Uncertain significance Single submitter
- ERMP1 p.Met652Leu Uncertain significance Single submitter
- ERMP1 p.Phe172Ser Uncertain significance Single submitter
- ERMP1 p.Phe401Val Uncertain significance Single submitter
- ERMP1 p.Phe538Leu Uncertain significance Single submitter
- ERMP1 p.Phe551Ser Uncertain significance Single submitter
- ERMP1 p.Phe746Ile Uncertain significance Single submitter
- ERMP1 p.Phe833Ile Uncertain significance Single submitter
- ERMP1 p.Pro28Ser Uncertain significance Single submitter
- ERMP1 p.Pro742Ser Uncertain significance Single submitter
- ERMP1 p.Pro784Leu Uncertain significance Single submitter
- ERMP1 p.Pro887Gln Uncertain significance Single submitter
- ERMP1 p.Ser53Arg Uncertain significance Single submitter
- ERMP1 p.Ser57Arg Uncertain significance Single submitter
- ERMP1 p.Ser69Cys Uncertain significance Single submitter
- ERMP1 p.Ser768Pro Uncertain significance Single submitter
- ERMP1 p.Ser801Tyr Uncertain significance Single submitter
- ERMP1 p.Thr463Ile Uncertain significance Single submitter
- ERMP1 p.Thr717Ser Uncertain significance Single submitter
- ERMP1 p.Thr795Ile Uncertain significance Single submitter
- ERMP1 p.Trp267Arg Uncertain significance Single submitter
- ERMP1 p.Tyr353Cys Uncertain significance Single submitter
- ERMP1 p.Tyr357Cys Uncertain significance Single submitter
- ERMP1 p.Tyr412Cys Uncertain significance Single submitter
- ERMP1 p.Val231Ile Uncertain significance Single submitter
- ERMP1 p.Val903Ile Uncertain significance Single submitter
- ERMP1 p.Val96Leu Uncertain significance Single submitter
Predictors split 54
The independent predictors disagree with each other — read with care.
- ERMP1 p.Ala109Val Uncertain significance Single submitter
- ERMP1 p.Ala196Asp Uncertain significance Single submitter
- ERMP1 p.Ala202Thr Uncertain significance Single submitter
- ERMP1 p.Ala238Asp Uncertain significance Single submitter
- ERMP1 p.Ala301Thr Uncertain significance Single submitter
- ERMP1 p.Ala301Val Uncertain significance Single submitter
- ERMP1 p.Ala60Val Likely benign Single submitter
- ERMP1 p.Ala64Val Uncertain significance Single submitter
- ERMP1 p.Arg193Thr Uncertain significance Single submitter
- ERMP1 p.Arg230Cys Uncertain significance Single submitter
- ERMP1 p.Arg415Cys Uncertain significance Single submitter
- ERMP1 p.Arg62Trp Uncertain significance Single submitter
- ERMP1 p.Asn295Ser Uncertain significance Single submitter
- ERMP1 p.Asn486Lys Uncertain significance Single submitter
- ERMP1 p.Asp529Glu Uncertain significance Single submitter
- ERMP1 p.Asp829His Uncertain significance Single submitter
- ERMP1 p.Cys897Tyr Uncertain significance Single submitter
- ERMP1 p.Glu37Asp Uncertain significance Single submitter
- ERMP1 p.Glu6Lys Uncertain significance Single submitter
- ERMP1 p.Glu853Asp Uncertain significance Single submitter
- ERMP1 p.Gly453Ala Uncertain significance Single submitter
- ERMP1 p.Gly524Arg Uncertain significance Single submitter
- ERMP1 p.Gly700Arg Uncertain significance Single submitter
- ERMP1 p.His155Tyr Uncertain significance Single submitter
- ERMP1 p.His381Arg Uncertain significance Single submitter
- ERMP1 p.His507Asn Uncertain significance Single submitter
-
ERMP1 p.His574Arg
Uncertain significance
Single submitter
autism
- ERMP1 p.His855Tyr Uncertain significance Single submitter
- ERMP1 p.Ile134Asn Uncertain significance Single submitter
- ERMP1 p.Ile244Met Uncertain significance Single submitter
- ERMP1 p.Ile506Thr Uncertain significance Single submitter
- ERMP1 p.Ile581Thr Uncertain significance Single submitter
- ERMP1 p.Leu135Val Uncertain significance Single submitter
- ERMP1 p.Lys156Gln Uncertain significance Single submitter
- ERMP1 p.Lys564Asn Uncertain significance Single submitter
- ERMP1 p.Phe462Cys Uncertain significance Single submitter
- ERMP1 p.Phe902Ser Uncertain significance Single submitter
- ERMP1 p.Pro763Ser Uncertain significance Single submitter
- ERMP1 p.Ser367Cys Uncertain significance Single submitter
- ERMP1 p.Ser549Leu Uncertain significance Single submitter
- ERMP1 p.Ser647Arg Uncertain significance Single submitter
- ERMP1 p.Ser870Cys Uncertain significance Single submitter
- ERMP1 p.Thr291Ser Uncertain significance Single submitter
- ERMP1 p.Thr563Ala Uncertain significance Single submitter
- ERMP1 p.Thr607Pro Uncertain significance Single submitter
- ERMP1 p.Thr694Ile Uncertain significance Single submitter
- ERMP1 p.Tyr179Cys Uncertain significance Single submitter
- ERMP1 p.Tyr394Cys Benign Single submitter
- ERMP1 p.Tyr431Asn Uncertain significance Single submitter
- ERMP1 p.Tyr80Cys Uncertain significance Single submitter
- ERMP1 p.Tyr868Cys Uncertain significance Single submitter
- ERMP1 p.Tyr868Ser Uncertain significance Single submitter
- ERMP1 p.Val313Ala Uncertain significance Single submitter
- ERMP1 p.Val567Gly Uncertain significance Single submitter
All ERMP1 variants
Benign 5
- p.Gly809= Multiple submitters
- p.Ser531= Multiple submitters
- p.Val404= Multiple submitters
- p.Tyr394Cys Single submitter ⚠
- p.Val428Gly Single submitter
Likely benign 4
- c.1021+6T>C Multiple submitters
- p.Ala550= Single submitter
- p.Ala60Val Single submitter ⚠
- p.Pro681= Single submitter
Uncertain significance 130
- p.Ala109Gly Single submitter ⚠
- p.Ala109Val Single submitter ⚠
- p.Ala112Thr Single submitter ⚠
- p.Ala196Asp Single submitter ⚠
- p.Ala202Thr Single submitter ⚠
- p.Ala238Asp Single submitter ⚠
- p.Ala301Thr Single submitter ⚠
- p.Ala301Val Single submitter ⚠
- p.Ala306Pro Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala389Thr Single submitter ⚠
- p.Ala510Val Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Ala64Val Single submitter ⚠
- p.Ala842Val Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg193Thr Single submitter ⚠
- p.Arg230Cys Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg62Ser Single submitter ⚠
- p.Arg62Trp Single submitter ⚠
- p.Arg705Gln Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg770Lys Single submitter ⚠
- p.Asn211Asp Single submitter ⚠
- p.Asn295Ser Single submitter ⚠
- p.Asn486Lys Single submitter ⚠
- p.Asn712Ser Single submitter ⚠
- p.Asn819Ser Single submitter ⚠
- p.Asp171Asn Single submitter ⚠
- p.Asp194Gly Single submitter ⚠
- p.Asp529Glu Single submitter ⚠
- p.Asp706Ala Single submitter ⚠
- p.Asp829His Single submitter ⚠
- p.Asp873Asn Single submitter ⚠
- p.Cys204Ser Single submitter ⚠
- p.Cys43Phe Single submitter ⚠
- p.Cys493Phe Single submitter ⚠
- p.Cys897Tyr Single submitter ⚠
- p.Glu37Asp Single submitter ⚠
- p.Glu699Lys Single submitter ⚠
- p.Glu6Lys Single submitter ⚠
- p.Glu739Gln Single submitter ⚠
- p.Glu853Asp Single submitter ⚠
- p.Gly214Asp Single submitter ⚠
- p.Gly22Ala Single submitter ⚠
- p.Gly22Glu Single submitter ⚠
- p.Gly453Ala Single submitter ⚠
- p.Gly455Arg Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly524Arg Single submitter ⚠
- p.Gly56Ala Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.Gly700Arg Single submitter ⚠
- p.His155Tyr Single submitter ⚠
- p.His381Arg Single submitter ⚠
- p.His441Arg Single submitter ⚠
- p.His507Asn Single submitter ⚠
- p.His574Arg Single submitter autism ⚠
- p.His855Asn Single submitter ⚠
- p.His855Tyr Single submitter ⚠
- p.Ile134Asn Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile183Val Single submitter ⚠
- p.Ile244Met Single submitter ⚠
- p.Ile275Val Single submitter ⚠
- p.Ile419Leu Single submitter ⚠
- p.Ile419Phe Single submitter ⚠
- p.Ile419Val Single submitter ⚠
- p.Ile506Thr Single submitter ⚠
- p.Ile552Val Single submitter ⚠
- p.Ile581Thr Single submitter ⚠
- p.Ile729Phe Single submitter ⚠
- p.Leu135Val Single submitter ⚠
- p.Leu494Val Single submitter ⚠
- p.Leu743Val Single submitter ⚠
- p.Leu750Ile Single submitter ⚠
- p.Leu882Val Single submitter ⚠
- p.Lys156Gln Single submitter ⚠
- p.Lys285Arg Single submitter ⚠
- p.Lys435Gln Single submitter ⚠
- p.Lys564Asn Single submitter ⚠
- p.Met387Val Single submitter ⚠
- p.Met632Val Single submitter ⚠
- p.Met652Leu Single submitter ⚠
- p.Phe172Ser Single submitter ⚠
- p.Phe401Val Single submitter ⚠
- p.Phe462Cys Single submitter ⚠
- p.Phe538Leu Single submitter ⚠
- p.Phe551Ser Single submitter ⚠
- p.Phe746Ile Single submitter ⚠
- p.Phe833Ile Single submitter ⚠
- p.Phe902Ser Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Pro742Ser Single submitter ⚠
- p.Pro763Ser Single submitter ⚠
- p.Pro784Leu Single submitter ⚠
- p.Pro887Gln Single submitter ⚠
- p.Ser367Cys Single submitter ⚠
- p.Ser53Arg Single submitter ⚠
- p.Ser549Leu Single submitter ⚠
- p.Ser57Arg Single submitter ⚠
- p.Ser647Arg Single submitter ⚠
- p.Ser69Cys Single submitter ⚠
- p.Ser768Pro Single submitter ⚠
- p.Ser801Tyr Single submitter ⚠
- p.Ser870Cys Single submitter ⚠
- p.Thr291Ser Single submitter ⚠
- p.Thr463Ile Single submitter ⚠
- p.Thr563Ala Single submitter ⚠
- p.Thr607Pro Single submitter ⚠
- p.Thr694Ile Single submitter ⚠
- p.Thr717Ser Single submitter ⚠
- p.Thr795Ile Single submitter ⚠
- p.Trp267Arg Single submitter ⚠
- p.Tyr179Cys Single submitter ⚠
- p.Tyr353Cys Single submitter ⚠
- p.Tyr357Cys Single submitter ⚠
- p.Tyr412Cys Single submitter ⚠
- p.Tyr431Asn Single submitter ⚠
- p.Tyr80Cys Single submitter ⚠
- p.Tyr868Cys Single submitter ⚠
- p.Tyr868Ser Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val313Ala Single submitter ⚠
- p.Val567Gly Single submitter ⚠
- p.Val903Ile Single submitter ⚠
- p.Val96Leu Single submitter ⚠