ERMAP — 74 ClinVar variants
All ClinVar germline ERMAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
1 Pathogenic · 6 Benign · 8 Likely benign · 59 Uncertain significance
Full ERMAP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERMAP p.Ala157Ser Uncertain significance Single submitter
- ERMAP p.Ala34Ser Uncertain significance Single submitter
- ERMAP p.Ala449Ser Uncertain significance Single submitter
- ERMAP p.Arg117His Uncertain significance Single submitter
- ERMAP p.Arg234Gln Uncertain significance Single submitter
- ERMAP p.Arg234Trp Uncertain significance Single submitter
- ERMAP p.Arg266Gln Uncertain significance Single submitter
- ERMAP p.Arg67Gln Uncertain significance Single submitter
- ERMAP p.Arg73His Uncertain significance Single submitter
- ERMAP p.Arg73Leu Uncertain significance Single submitter
- ERMAP p.Asn376Lys Uncertain significance Single submitter
- ERMAP p.Asp271Glu Uncertain significance Single submitter
- ERMAP p.Gln75Arg Uncertain significance Single submitter
- ERMAP p.Glu338Gly Uncertain significance Single submitter
- ERMAP p.Glu365Asp Uncertain significance Single submitter
- ERMAP p.Glu62Ala Uncertain significance Single submitter
- ERMAP p.Glu62Val Uncertain significance Single submitter
- ERMAP p.Gly428Trp Uncertain significance Single submitter
- ERMAP p.Gly44Asp Uncertain significance Single submitter
- ERMAP p.His431Gln Uncertain significance Single submitter
- ERMAP p.Ile140Met Uncertain significance Single submitter
- ERMAP p.Ile369Val Uncertain significance Single submitter
- ERMAP p.Leu111Pro Uncertain significance Single submitter
- ERMAP p.Leu118Pro Uncertain significance Single submitter
- ERMAP p.Leu219Pro Uncertain significance Single submitter
- ERMAP p.Lys352Arg Uncertain significance Single submitter
- ERMAP p.Lys404Glu Uncertain significance Single submitter
- ERMAP p.Lys61Arg Uncertain significance Single submitter
- ERMAP p.Lys84Thr Uncertain significance Single submitter
- ERMAP p.Pro153Arg Uncertain significance Single submitter
- ERMAP p.Pro17Arg Uncertain significance Single submitter
- ERMAP p.Pro17Leu Uncertain significance Single submitter
- ERMAP p.Pro270Leu Uncertain significance Single submitter
- ERMAP p.Pro345Ser Uncertain significance Single submitter
- ERMAP p.Pro447Ala Uncertain significance Single submitter
- ERMAP p.Pro447Arg Uncertain significance Single submitter
- ERMAP p.Pro447Leu Uncertain significance Single submitter
- ERMAP p.Pro460Ser Uncertain significance Single submitter
- ERMAP p.Ser199Leu Uncertain significance Single submitter
- ERMAP p.Ser334Asn Uncertain significance Single submitter
- ERMAP p.Ser418Leu Uncertain significance Single submitter
- ERMAP p.Ser9Tyr Uncertain significance Single submitter
- ERMAP p.Thr289Met Uncertain significance Single submitter
- ERMAP p.Thr384Asn Uncertain significance Single submitter
- ERMAP p.Val109Asp Uncertain significance Single submitter
- ERMAP p.Val212Ala Uncertain significance Single submitter
- ERMAP p.Val269Ala Uncertain significance Single submitter
- ERMAP p.Val39Met Uncertain significance Single submitter
- ERMAP p.Val423Ile Uncertain significance Single submitter
- ERMAP p.Val77Asp Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ERMAP p.Arg231Gly Uncertain significance Single submitter
- ERMAP p.Cys398Trp Uncertain significance Single submitter
- ERMAP p.Leu307Ile Uncertain significance Single submitter
- ERMAP p.Phe288Leu Uncertain significance Single submitter
- ERMAP p.Phe349Ile Uncertain significance Single submitter
- ERMAP p.Pro355Leu Uncertain significance Single submitter
- ERMAP p.Pro51Leu Uncertain significance Single submitter
All ERMAP variants
Pathogenic 1
- p.Asp103fs No assertion criteria SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2
Benign 6
- p.Ala4Val Multiple submitters
- p.Arg73= Multiple submitters
- c.-2G>A No assertion criteria ERMAP-related disorder
- p.Arg73Cys No assertion criteria ERMAP-related disorder
- p.His26Tyr No assertion criteria ERMAP-related disorder
- p.Leu18= No assertion criteria ERMAP-related disorder
Likely benign 8
- p.Arg22Gln Single submitter
- p.Gly57Arg Single submitter
- p.His416= Single submitter
- p.Ile79Val Single submitter
- p.Pro345= Single submitter
- p.Val19Ile Single submitter
- p.Gly263= No assertion criteria ERMAP-related disorder
- p.Thr138= No assertion criteria ERMAP-related disorder
Uncertain significance 59
- p.Ala157Ser Single submitter ⚠
- p.Ala34Ser Single submitter ⚠
- p.Ala449Ser Single submitter ⚠
- p.Arg117His Single submitter ⚠
- p.Arg231Gly Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg234Trp Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg67Gln Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Arg73Leu Single submitter ⚠
- p.Asn376Lys Single submitter ⚠
- p.Asp271Glu Single submitter ⚠
- p.Cys398Trp Single submitter ⚠
- p.Gln75Arg Single submitter ⚠
- p.Glu338Gly Single submitter ⚠
- p.Glu365Asp Single submitter ⚠
- p.Glu62Ala Single submitter ⚠
- p.Glu62Val Single submitter ⚠
- p.Gly107Glu Single submitter
- p.Gly428Trp Single submitter ⚠
- p.Gly44Asp Single submitter ⚠
- p.His431Gln Single submitter ⚠
- p.Ile140Met Single submitter ⚠
- p.Ile369Val Single submitter ⚠
- p.Leu111Pro Single submitter ⚠
- p.Leu118Pro Single submitter ⚠
- p.Leu219Pro Single submitter ⚠
- p.Leu307Ile Single submitter ⚠
- p.Lys352Arg Single submitter ⚠
- p.Lys404Glu Single submitter ⚠
- p.Lys61Arg Single submitter ⚠
- p.Lys84Thr Single submitter ⚠
- p.Phe288Leu Single submitter ⚠
- p.Phe349Ile Single submitter ⚠
- p.Pro153Arg Single submitter ⚠
- p.Pro17Arg Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro345Ser Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Pro447Ala Single submitter ⚠
- p.Pro447Arg Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro460Ser Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Ser334Asn Single submitter ⚠
- p.Ser418Leu Single submitter ⚠
- p.Ser9Tyr Single submitter ⚠
- p.Thr289Met Single submitter ⚠
- p.Thr384Asn Single submitter ⚠
- p.Val109Asp Single submitter ⚠
- p.Val116Met Single submitter
- p.Val212Ala Single submitter ⚠
- p.Val269Ala Single submitter ⚠
- p.Val39Met Single submitter ⚠
- p.Val423Ile Single submitter ⚠
- p.Val77Asp Single submitter ⚠