ADGRE1 — 139 ClinVar variants

All ClinVar germline ADGRE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

8 Benign · 11 Likely benign · 120 Uncertain significance

Full ADGRE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 123

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 60

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 63

The independent predictors disagree with each other — read with care.

All ADGRE1 variants

Benign 8

c.2382-4C>T Multiple submitters
p.Arg2Leu Multiple submitters
p.Pro880Thr Multiple submitters
p.Thr885Met Multiple submitters ⚠
c.2289+47A>T Single submitter
p.Asp325= Single submitter
p.Gly92Arg Single submitter ⚠
p.Thr430= Single submitter

Likely benign 11

p.Ala341Thr Single submitter
p.Ala592= Single submitter
p.Arg429Gln Single submitter
p.Gly339Arg Single submitter
p.Ile284Val Single submitter
p.Ile569Val Single submitter
p.Ser139Gly Single submitter ⚠
p.Ser156Asn Single submitter
p.Ser488= Single submitter
c.1621-4_1621-3dup No assertion criteria ADGRE1-related disorder
p.Ala669Val No assertion criteria ADGRE1-related disorder

Uncertain significance 120

p.Ala177Val Single submitter ⚠
p.Ala57Val Single submitter ⚠
p.Ala592Val Single submitter ⚠
p.Ala620Val Single submitter ⚠
p.Ala622Thr Single submitter ⚠
p.Ala648Val Single submitter ⚠
p.Ala838Thr Single submitter ⚠
p.Arg2His Single submitter ⚠
p.Arg514Gln Single submitter ⚠
p.Arg706Cys Single submitter ⚠
p.Arg852Gln Single submitter ⚠
p.Asn150Thr Single submitter ⚠
p.Asn167His Single submitter ⚠
p.Asn33Asp Single submitter ⚠
p.Asn582His Single submitter ⚠
p.Asn5Lys Single submitter ⚠
p.Asp178Gly Single submitter ⚠
p.Asp325Asn Single submitter ⚠
p.Asp599Ala Single submitter ⚠
p.Cys170Ser Single submitter ⚠
p.Cys170Tyr Single submitter ⚠
p.Cys266Trp Single submitter ⚠
p.Cys279Ser Single submitter ⚠
p.Cys285Phe Single submitter ⚠
p.Cys567Tyr Single submitter ⚠
p.Cys759Tyr Single submitter ⚠
p.Gln335Lys Single submitter ⚠
p.Glu410Ala Single submitter ⚠
p.Gly255Glu Single submitter ⚠
p.Gly299Ser Single submitter ⚠
p.Gly339Glu Single submitter ⚠
p.Gly517Ala Single submitter ⚠
p.Gly527Ser Single submitter ⚠
p.Gly594Arg Single submitter ⚠
p.Gly655Ser Single submitter ⚠
p.Gly67Glu Single submitter ⚠
p.Gly749Ala Single submitter ⚠
p.Gly749Val Single submitter ⚠
p.Gly756Glu Single submitter ⚠
p.Gly849Val Single submitter ⚠
p.His498Arg Single submitter ⚠
p.His657Tyr Single submitter ⚠
p.Ile231Asn Single submitter ⚠
p.Ile231Met Single submitter ⚠
p.Ile327Leu Single submitter ⚠
p.Ile353Arg Single submitter ⚠
p.Ile467Thr Single submitter ⚠
p.Ile467Val Single submitter ⚠
p.Ile507Asn Single submitter ⚠
p.Ile605Val Single submitter ⚠
p.Ile611Val Single submitter ⚠
p.Ile621Val Single submitter ⚠
p.Ile762Thr Single submitter ⚠
p.Ile762Val Single submitter ⚠
p.Ile874Met Single submitter ⚠
p.Ile874Thr Single submitter ⚠
p.Leu373Gln Single submitter ⚠
p.Leu401Pro Single submitter ⚠
p.Leu453Phe Single submitter ⚠
p.Leu453Val Single submitter ⚠
p.Leu502Val Single submitter ⚠
p.Leu641Phe Single submitter ⚠
p.Leu767Phe Single submitter ⚠
p.Leu780Ile Single submitter ⚠
p.Leu7Pro Single submitter ⚠
p.Lys321Glu Single submitter ⚠
p.Lys367Asn Single submitter ⚠
p.Lys438Gln Single submitter ⚠
p.Lys438Thr Single submitter ⚠
p.Met738Val Single submitter ⚠
p.Phe128Leu Single submitter ⚠
p.Phe212Leu Single submitter ⚠
p.Phe243Val Single submitter ⚠
p.Phe483Leu Single submitter ⚠
p.Phe545Ser Single submitter ⚠
p.Phe754Leu Single submitter ⚠
p.Pro115Leu Single submitter ⚠
p.Pro125Leu Single submitter ⚠
p.Pro239Ala Single submitter ⚠
p.Pro24Leu Single submitter ⚠
p.Pro302Thr Single submitter ⚠
p.Pro426Leu Single submitter ⚠
p.Pro541Ala Single submitter ⚠
p.Ser101Ala Single submitter ⚠
p.Ser113Phe Single submitter ⚠
p.Ser156Ile Single submitter ⚠
p.Ser158Arg Single submitter ⚠
p.Ser206Ile Single submitter ⚠
p.Ser358Arg Single submitter ⚠
p.Ser379Asn Single submitter ⚠
p.Ser399Tyr Single submitter ⚠
p.Ser416Pro Single submitter ⚠
p.Ser470Pro Single submitter ⚠
p.Ser554Gly Single submitter ⚠
p.Ser580Asn Single submitter ⚠
p.Ser64Thr Single submitter ⚠
p.Ser782Gly Single submitter ⚠
p.Ser85Cys Single submitter ⚠
p.Ser96Phe Single submitter ⚠
p.Thr131Ile Single submitter ⚠
p.Thr368Met Single submitter ⚠
p.Thr376Ala Single submitter ⚠
p.Thr389Lys Single submitter ⚠
p.Thr39Asn Single submitter ⚠
p.Thr450Met Single submitter ⚠
p.Thr563Lys Single submitter ⚠
p.Thr885Ala Single submitter ⚠
p.Trp752Cys Single submitter ⚠
p.Trp858Ser Single submitter ⚠
p.Tyr292Ser Single submitter ⚠
p.Tyr534Cys Single submitter ⚠
p.Tyr55Cys Single submitter ⚠
p.Val141Ile Single submitter ⚠
p.Val173Met Single submitter ⚠
p.Val370Ile Single submitter ⚠
p.Val370Leu Single submitter ⚠
p.Val439Phe Single submitter ⚠
p.Val516Ile Single submitter ⚠
p.Val516Leu Single submitter ⚠
p.Val643Ala Single submitter ⚠