EMID1 — 72 ClinVar variants

All ClinVar germline EMID1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Benign · 2 Likely benign · 69 Uncertain significance

Full EMID1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All EMID1 variants

Benign 1

c.587-5C>G Multiple submitters

Likely benign 2

p.Arg216Gln Single submitter
p.Thr172Ala Single submitter

Uncertain significance 69

p.Ala108Thr Single submitter
p.Ala112Thr Single submitter
p.Ala127Ser Single submitter
p.Ala28Thr Single submitter
p.Ala409Val Single submitter
p.Ala435Asp Single submitter
p.Ala6Ser Single submitter
p.Arg125Gln Single submitter
p.Arg125Trp Single submitter
p.Arg33His Single submitter
p.Arg346Leu Single submitter
p.Arg358Trp Single submitter
p.Arg439Gln Single submitter
p.Arg43Cys Single submitter
p.Cys11Gly Single submitter
p.Gln352Arg Single submitter
p.Gln50Arg Single submitter
p.Glu441Lys Single submitter
p.Gly120Asp Single submitter
p.Gly120Ser Single submitter
p.Gly135Asp Single submitter
p.Gly18Arg Single submitter
p.Gly199Ser Single submitter
p.Gly205Arg Single submitter
p.Gly211Arg Single submitter
p.Gly214Ser Single submitter
p.Gly241Val Single submitter
p.Gly247Arg Single submitter
p.Gly26Arg Single submitter
p.Gly299Ser Single submitter
p.Gly2Asp Single submitter
p.Gly326Asp Single submitter
p.Gly335Asp Single submitter
p.Gly335Ser Single submitter
p.Gly3Asp Single submitter
p.Gly410Ala Single submitter
p.Gly422Ser Single submitter
p.Gly52Asp Single submitter
p.His289Gln Single submitter
p.His48Leu Single submitter
p.Ile398Thr Single submitter
p.Leu194Pro Single submitter
p.Leu55Arg Single submitter
p.Met158Leu Single submitter
p.Pro168Leu Single submitter
p.Pro178Leu Single submitter
p.Pro183Arg Single submitter
p.Pro225Gln Single submitter
p.Pro227Leu Single submitter
p.Pro243Arg Single submitter
p.Pro297Thr Single submitter
p.Pro29Leu Single submitter
p.Pro319Leu Single submitter
p.Pro325Ser Single submitter
p.Pro330Ser Single submitter
p.Pro403Ala Single submitter
p.Pro4Ser Single submitter
p.Pro69Leu Single submitter
p.Ser119Leu Single submitter
p.Ser119Pro Single submitter
p.Ser134Leu Single submitter
p.Thr131Ala Single submitter
p.Thr157Ser Single submitter
p.Thr295Ile Single submitter
p.Thr53Asn Single submitter
p.Trp180Cys Single submitter
p.Trp7Gly Single submitter
p.Tyr39Phe Single submitter
p.Val166Ile Single submitter