ADGRE5 — 171 ClinVar variants

All ClinVar germline ADGRE5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

3 Benign · 19 Likely benign · 149 Uncertain significance

Full ADGRE5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

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 90

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

Predictors split 62

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

All ADGRE5 variants

Benign 3

c.1183+10G>A Multiple submitters
p.Asn371= Multiple submitters
p.Leu635= Multiple submitters

Likely benign 19

p.Ile666Met Multiple submitters ⚠
p.Ala399Val Single submitter
p.Arg277Gln Single submitter
p.Arg504Gly Single submitter
p.Asp280Asn Single submitter
p.Asp369Asn Single submitter
p.Asp503Asn Single submitter
p.Asp687Asn Single submitter
p.Gly131Ser Single submitter
p.Ile326Val Single submitter
p.Leu765Trp Single submitter ⚠
p.Pro16Leu Single submitter
p.Pro266= Single submitter
p.Pro266Leu Single submitter
p.Ser528Asn Single submitter
p.Ser651Arg Single submitter
p.Thr581= Single submitter
p.Val206Ile Single submitter ⚠
p.Val372Ile Single submitter

Uncertain significance 149

p.Ala379Thr Single submitter ⚠
p.Ala388Ser Single submitter ⚠
p.Ala39Thr Single submitter ⚠
p.Ala412Pro Single submitter ⚠
p.Ala534Val Single submitter ⚠
p.Ala830Val Single submitter ⚠
p.Arg187Leu Single submitter ⚠
p.Arg189Cys Single submitter ⚠
p.Arg236Cys Single submitter ⚠
p.Arg236His Single submitter ⚠
p.Arg238His Single submitter ⚠
p.Arg323Gln Single submitter ⚠
p.Arg380Leu Single submitter ⚠
p.Arg435Cys Single submitter ⚠
p.Arg435His Single submitter ⚠
p.Arg440Lys Single submitter ⚠
p.Arg441Cys Single submitter ⚠
p.Arg441His Single submitter ⚠
p.Arg490Trp Single submitter ⚠
p.Arg4Gly Single submitter ⚠
p.Arg552Ser Single submitter ⚠
p.Arg573Gly Single submitter ⚠
p.Arg579His Single submitter ⚠
p.Arg613Cys Single submitter ⚠
p.Arg643Cys Single submitter ⚠
p.Arg653Cys Single submitter ⚠
p.Arg794Trp Single submitter ⚠
p.Arg798Gln Single submitter ⚠
p.Arg826Gln Single submitter ⚠
p.Asn162Ser Single submitter ⚠
p.Asn446Ser Single submitter ⚠
p.Asn454Thr Single submitter ⚠
p.Asn790Lys Single submitter ⚠
p.Asn823Ser Single submitter ⚠
p.Asp314Asn Single submitter ⚠
p.Asp473Asn Single submitter ⚠
p.Asp473Glu Single submitter ⚠
p.Asp473His Single submitter ⚠
p.Asp503Val Single submitter ⚠
p.Asp687Ala Single submitter ⚠
p.Asp762Asn Single submitter ⚠
p.Asp762His Single submitter ⚠
p.Asp90Asn Single submitter ⚠
p.Cys527Tyr Single submitter ⚠
p.Cys706Phe Single submitter ⚠
p.Cys706Trp Single submitter ⚠
p.Gln168Pro Single submitter ⚠
p.Gln21Arg Single submitter ⚠
p.Gln273Arg Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu208Ala Single submitter ⚠
p.Glu427Gly Single submitter ⚠
p.Glu602Ala Single submitter ⚠
p.Glu604Asp Single submitter ⚠
p.Glu636Asp Single submitter ⚠
p.Glu796Val Single submitter ⚠
p.Glu832Asp Single submitter ⚠
p.Glu832Gln Single submitter ⚠
p.Gly191Asp Single submitter ⚠
p.Gly201Asp Single submitter ⚠
p.Gly246Arg Single submitter ⚠
p.Gly269Ala Single submitter ⚠
p.Gly348Asp Single submitter ⚠
p.Gly436Ala Single submitter ⚠
p.Gly593Ala Single submitter ⚠
p.Gly609Ala Single submitter ⚠
p.Gly634Cys Single submitter ⚠
p.Gly647Asp Single submitter ⚠
p.Gly677Val Single submitter ⚠
p.Gly806Ala Single submitter ⚠
p.Gly806Arg Single submitter ⚠
p.Gly819Asp Single submitter ⚠
p.Gly834Ser Single submitter ⚠
p.His176Leu Single submitter ⚠
p.His539Tyr Single submitter ⚠
p.Ile247Val Single submitter ⚠
p.Ile326Leu Single submitter ⚠
p.Ile326Thr Single submitter ⚠
p.Ile434Thr Single submitter ⚠
p.Ile582Met Single submitter ⚠
p.Ile601Ser Single submitter ⚠
p.Ile601Val Single submitter ⚠
p.Ile673Thr Single submitter ⚠
p.Ile703Asn Single submitter ⚠
p.Ile759Met Single submitter ⚠
p.Leu145Val Single submitter ⚠
p.Leu285Val Single submitter ⚠
p.Leu341Arg Single submitter ⚠
p.Leu536Val Single submitter ⚠
p.Leu557Gln Single submitter ⚠
p.Leu610Arg Single submitter ⚠
p.Leu686Met Single submitter ⚠
p.Leu693Phe Single submitter ⚠
p.Leu757Gln Single submitter ⚠
p.Leu782Phe Single submitter ⚠
p.Leu788Val Single submitter ⚠
p.Leu7Phe Single submitter ⚠
p.Lys149Asn Single submitter ⚠
p.Lys252Glu Single submitter ⚠
p.Lys734Glu Single submitter ⚠
p.Lys734Thr Single submitter ⚠
p.Lys809Gln Single submitter ⚠
p.Met381Val Single submitter ⚠
p.Phe278Leu Single submitter ⚠
p.Phe464Ser Single submitter ⚠
p.Phe627Ser Single submitter ⚠
p.Phe755Tyr Single submitter ⚠
p.Phe813Ile Single submitter ⚠
p.Pro170Leu Single submitter ⚠
p.Pro170Ser Single submitter ⚠
p.Pro190Leu Single submitter ⚠
p.Pro194Ala Single submitter ⚠
p.Pro31Ser Single submitter ⚠
p.Pro346Leu Single submitter ⚠
p.Pro349Leu Single submitter ⚠
p.Pro461Ser Single submitter ⚠
p.Pro487Ser Single submitter ⚠
p.Pro71Leu Single submitter ⚠
p.Pro727Leu Single submitter ⚠
p.Ser215Thr Single submitter ⚠
p.Ser223Thr Single submitter ⚠
p.Ser289Thr Single submitter ⚠
p.Ser289Tyr Single submitter ⚠
p.Ser35Leu Single submitter ⚠
p.Ser377Arg Single submitter ⚠
p.Ser460Cys Single submitter ⚠
p.Ser472Phe Single submitter ⚠
p.Ser88Arg Single submitter ⚠
p.Ser88Gly Single submitter ⚠
p.Thr14Ile Single submitter ⚠
p.Thr165Ala Single submitter ⚠
p.Thr274Met Single submitter ⚠
p.Thr351Ala Single submitter ⚠
p.Thr361Ile Single submitter ⚠
p.Thr408Met Single submitter ⚠
p.Thr59Lys Single submitter ⚠
p.Thr701Ile Single submitter ⚠
p.Thr817Ser Single submitter ⚠
p.Trp192Arg Single submitter ⚠
p.Trp385Arg Single submitter ⚠
p.Trp753Arg Single submitter ⚠
p.Tyr540Cys Single submitter ⚠
p.Tyr621Cys Single submitter ⚠
p.Tyr769Cys Single submitter ⚠
p.Val181Leu Single submitter ⚠
p.Val37Ile Single submitter ⚠
p.Val445Ile Single submitter ⚠
p.Val793Ile Single submitter ⚠
p.Val804Leu Single submitter ⚠