ADGRE2 — 647 ClinVar variants
All ClinVar germline ADGRE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 329 flagged for review →
1 Likely pathogenic · 28 Conflicting · 65 Benign · 3 Benign/Likely benign · 196 Likely benign · 354 Uncertain significance
Full ADGRE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 329
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 agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ADGRE2 p.Ala415Thr
Conflicting
Single submitter
vibratory urticaria
- ADGRE2 p.Ala756Ser Conflicting Single submitter
- ADGRE2 p.Arg725Gln Conflicting Single submitter
- ADGRE2 p.Asp119His Conflicting Single submitter
- ADGRE2 p.Asp283Asn Conflicting Single submitter
- ADGRE2 p.Cys500Tyr Conflicting Single submitter
- ADGRE2 p.Gly2Glu Conflicting Single submitter
- ADGRE2 p.Ile58Phe Conflicting Single submitter
- ADGRE2 p.Val103Ile Conflicting Single submitter
- ADGRE2 p.Val705Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 145
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ADGRE2 p.Ala359Gly Uncertain significance Multiple submitters
- ADGRE2 p.Ala555Ser Uncertain significance Multiple submitters
- ADGRE2 p.Ala694Thr Uncertain significance Multiple submitters
- ADGRE2 p.Arg27Gly Uncertain significance Multiple submitters
- ADGRE2 p.Arg713Thr Uncertain significance Multiple submitters
- ADGRE2 p.Asp528Asn Uncertain significance Multiple submitters
- ADGRE2 p.Cys65Ser Uncertain significance Multiple submitters
- ADGRE2 p.Gln24Arg Uncertain significance Multiple submitters
- ADGRE2 p.Gly295Cys Uncertain significance Multiple submitters
- ADGRE2 p.Gly653Arg Uncertain significance Multiple submitters
- ADGRE2 p.Gly80Arg Uncertain significance Multiple submitters
- ADGRE2 p.His668Gln Uncertain significance Multiple submitters
- ADGRE2 p.Ile740Val Uncertain significance Multiple submitters
- ADGRE2 p.Leu365Pro Uncertain significance Multiple submitters
- ADGRE2 p.Leu702Ile Uncertain significance Multiple submitters
- ADGRE2 p.Phe763Val Uncertain significance Multiple submitters
- ADGRE2 p.Pro476Leu Uncertain significance Multiple submitters
- ADGRE2 p.Ser547Phe Uncertain significance Multiple submitters
- ADGRE2 p.Thr17Ala Uncertain significance Multiple submitters
- ADGRE2 p.Thr64Ile Uncertain significance Multiple submitters
- ADGRE2 p.Thr73Ala Uncertain significance Multiple submitters
- ADGRE2 p.Thr744Arg Uncertain significance Multiple submitters
- ADGRE2 p.Ala307Ser Uncertain significance Single submitter
- ADGRE2 p.Ala451Pro Uncertain significance Single submitter
- ADGRE2 p.Ala72Thr Uncertain significance Single submitter
- ADGRE2 p.Ala812Thr Uncertain significance Single submitter
- ADGRE2 p.Arg190His Uncertain significance Single submitter
- ADGRE2 p.Arg192His Uncertain significance Single submitter
- ADGRE2 p.Arg239His Uncertain significance Single submitter
- ADGRE2 p.Arg27Lys Uncertain significance Single submitter
- ADGRE2 p.Arg280Gln Uncertain significance Single submitter
- ADGRE2 p.Arg31Gln Uncertain significance Single submitter
- ADGRE2 p.Arg31Pro Uncertain significance Single submitter
- ADGRE2 p.Arg342Lys Uncertain significance Single submitter
- ADGRE2 p.Arg472His Uncertain significance Single submitter
- ADGRE2 p.Arg472Pro Uncertain significance Single submitter
- ADGRE2 p.Arg4Leu Uncertain significance Single submitter
- ADGRE2 p.Arg666Lys Uncertain significance Single submitter
- ADGRE2 p.Arg675His Uncertain significance Single submitter
- ADGRE2 p.Arg757Gln Uncertain significance Single submitter
- ADGRE2 p.Asn207His Uncertain significance Single submitter
- ADGRE2 p.Asn350Asp Uncertain significance Single submitter
- ADGRE2 p.Asn455Lys Uncertain significance Single submitter
- ADGRE2 p.Asn456Lys Uncertain significance Single submitter
- ADGRE2 p.Asn48Asp Uncertain significance Single submitter
- ADGRE2 p.Asn490Asp Uncertain significance Single submitter
- ADGRE2 p.Asn640His Uncertain significance Single submitter
- ADGRE2 p.Asn712Ser Uncertain significance Single submitter
- ADGRE2 p.Asp283His Uncertain significance Single submitter
- ADGRE2 p.Asp36Asn Uncertain significance Single submitter
- ADGRE2 p.Asp372Glu Uncertain significance Single submitter
- ADGRE2 p.Asp387Asn Uncertain significance Single submitter
- ADGRE2 p.Asp396Glu Uncertain significance Single submitter
- ADGRE2 p.Asp439Val Uncertain significance Single submitter
- ADGRE2 p.Asp457Asn Uncertain significance Single submitter
- ADGRE2 p.Asp507Asn Uncertain significance Single submitter
- ADGRE2 p.Asp67Val Uncertain significance Single submitter
- ADGRE2 p.Asp84Tyr Uncertain significance Single submitter
- ADGRE2 p.Asp93Asn Uncertain significance Single submitter
- ADGRE2 p.Cys167Arg Uncertain significance Single submitter
- ADGRE2 p.Cys180Tyr Uncertain significance Single submitter
- ADGRE2 p.Cys210Arg Uncertain significance Single submitter
- ADGRE2 p.Cys223Arg Uncertain significance Single submitter
- ADGRE2 p.Cys229Arg Uncertain significance Single submitter
- ADGRE2 p.Cys45Tyr Uncertain significance Single submitter
- ADGRE2 p.Cys512Trp Uncertain significance Single submitter
- ADGRE2 p.Cys512Tyr Uncertain significance Single submitter
- ADGRE2 p.Cys578Ser Uncertain significance Single submitter
- ADGRE2 p.Cys676Phe Uncertain significance Single submitter
- ADGRE2 p.Cys676Tyr Uncertain significance Single submitter
- ADGRE2 p.Cys71Gly Uncertain significance Single submitter
- ADGRE2 p.Cys743Phe Uncertain significance Single submitter
- ADGRE2 p.Cys746Ser Uncertain significance Single submitter
- ADGRE2 p.Cys79Arg Uncertain significance Single submitter
-
ADGRE2 p.Cys85Gly
Uncertain significance
Single submitter
autosomal dominant vibratory urticaria
- ADGRE2 p.Cys85Ser Uncertain significance Single submitter
- ADGRE2 p.Gln276Arg Uncertain significance Single submitter
- ADGRE2 p.Gln276Leu Uncertain significance Single submitter
- ADGRE2 p.Gln35Arg Uncertain significance Single submitter
- ADGRE2 p.Gln370Arg Uncertain significance Single submitter
- ADGRE2 p.Gln438Lys Uncertain significance Single submitter
- ADGRE2 p.Gln478Glu Uncertain significance Single submitter
- ADGRE2 p.Gln478Lys Uncertain significance Single submitter
- ADGRE2 p.Gln679His Uncertain significance Single submitter
- ADGRE2 p.Glu416Asp Uncertain significance Single submitter
- ADGRE2 p.Glu422Gly Uncertain significance Single submitter
- ADGRE2 p.Glu63Gln Uncertain significance Single submitter
- ADGRE2 p.Gly295Asp Uncertain significance Single submitter
- ADGRE2 p.Gly295Val Uncertain significance Single submitter
- ADGRE2 p.Gly2Arg Uncertain significance Single submitter
- ADGRE2 p.Gly395Ala Uncertain significance Single submitter
- ADGRE2 p.Gly435Ser Uncertain significance Single submitter
- ADGRE2 p.Gly440Ser Uncertain significance Single submitter
- ADGRE2 p.Gly99Arg Uncertain significance Single submitter
- ADGRE2 p.Gly99Glu Uncertain significance Single submitter
- ADGRE2 p.His433Pro Uncertain significance Single submitter
- ADGRE2 p.His595Gln Uncertain significance Single submitter
- ADGRE2 p.His806Arg Uncertain significance Single submitter
- ADGRE2 p.Ile250Val Uncertain significance Single submitter
- ADGRE2 p.Leu333Pro Uncertain significance Single submitter
- ADGRE2 p.Leu333Val Uncertain significance Single submitter
- ADGRE2 p.Leu337Pro Uncertain significance Single submitter
- ADGRE2 p.Leu548Pro Uncertain significance Single submitter
- ADGRE2 p.Leu575His Uncertain significance Single submitter
- ADGRE2 p.Leu74Pro Uncertain significance Single submitter
- ADGRE2 p.Leu7Pro Uncertain significance Single submitter
- ADGRE2 p.Lys110Arg Uncertain significance Single submitter
- ADGRE2 p.Lys110Gln Uncertain significance Single submitter
-
ADGRE2 p.Lys154Ile
Uncertain significance
Single submitter
vibratory urticaria
- ADGRE2 p.Lys293Glu Uncertain significance Single submitter
- ADGRE2 p.Lys369Asn Uncertain significance Single submitter
- ADGRE2 p.Lys596Glu Uncertain significance Single submitter
- ADGRE2 p.Met62Thr Uncertain significance Single submitter
- ADGRE2 p.Met647Ile Uncertain significance Single submitter
- ADGRE2 p.Phe12Leu Uncertain significance Single submitter
- ADGRE2 p.Phe520Cys Uncertain significance Single submitter
- ADGRE2 p.Phe520Ser Uncertain significance Single submitter
- ADGRE2 p.Phe775Cys Uncertain significance Single submitter
- ADGRE2 p.Pro61Arg Uncertain significance Single submitter
- ADGRE2 p.Pro673Ser Uncertain significance Single submitter
- ADGRE2 p.Pro691Arg Uncertain significance Single submitter
- ADGRE2 p.Pro819Arg Uncertain significance Single submitter
- ADGRE2 p.Pro98Ala Uncertain significance Single submitter
- ADGRE2 p.Ser303Gly Uncertain significance Single submitter
- ADGRE2 p.Ser38Leu Uncertain significance Single submitter
- ADGRE2 p.Ser406Pro Uncertain significance Single submitter
- ADGRE2 p.Ser462Thr Uncertain significance Single submitter
- ADGRE2 p.Ser803Thr Uncertain significance Single submitter
- ADGRE2 p.Thr116Lys Uncertain significance Single submitter
- ADGRE2 p.Thr116Met Uncertain significance Single submitter
- ADGRE2 p.Thr162Arg Uncertain significance Single submitter
- ADGRE2 p.Thr263Ile Uncertain significance Single submitter
- ADGRE2 p.Thr277Ala Uncertain significance Single submitter
- ADGRE2 p.Thr432Ala Uncertain significance Single submitter
- ADGRE2 p.Thr515Asn Uncertain significance Single submitter
- ADGRE2 p.Trp616Arg Uncertain significance Single submitter
- ADGRE2 p.Trp616Cys Uncertain significance Single submitter
- ADGRE2 p.Trp686Arg Uncertain significance Single submitter
- ADGRE2 p.Val103Ala Uncertain significance Single submitter
- ADGRE2 p.Val14Ile Uncertain significance Single submitter
- ADGRE2 p.Val522Ile Uncertain significance Single submitter
- ADGRE2 p.Val546Ile Uncertain significance Single submitter
- ADGRE2 p.Val701Ile Uncertain significance Single submitter
- ADGRE2 p.Val77Ala Uncertain significance Single submitter
- ADGRE2 p.Val95Met Uncertain significance Single submitter
Predictors split 174
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 174
-
ADGRE2 p.Ala307Val
Benign/Likely benign
Multiple submitters
vibratory urticaria
- ADGRE2 p.Ala44Thr Uncertain significance Multiple submitters
- ADGRE2 p.Ala554Val Uncertain significance Multiple submitters
- ADGRE2 p.Ala589Thr Uncertain significance Multiple submitters
- ADGRE2 p.Ala603Thr Uncertain significance Multiple submitters
- ADGRE2 p.Ala656Thr Uncertain significance Multiple submitters
- ADGRE2 p.Ala664Gly Uncertain significance Multiple submitters
- ADGRE2 p.Ala734Val Uncertain significance Multiple submitters
- ADGRE2 p.Arg513His Uncertain significance Multiple submitters
- ADGRE2 p.Arg629Gln Benign Multiple submitters
- ADGRE2 p.Arg757Trp Uncertain significance Multiple submitters
- ADGRE2 p.Arg786Trp Uncertain significance Multiple submitters
- ADGRE2 p.Asn41Ser Uncertain significance Multiple submitters
- ADGRE2 p.Cys561Tyr Uncertain significance Multiple submitters
- ADGRE2 p.Gln565Lys Uncertain significance Multiple submitters
- ADGRE2 p.Gln783His Uncertain significance Multiple submitters
- ADGRE2 p.Gly604Ser Uncertain significance Multiple submitters
- ADGRE2 p.Gly683Glu Uncertain significance Multiple submitters
- ADGRE2 p.His471Arg Uncertain significance Multiple submitters
- ADGRE2 p.Ile503Thr Uncertain significance Multiple submitters
- ADGRE2 p.Leu311Met Uncertain significance Multiple submitters
- ADGRE2 p.Leu321Val Uncertain significance Multiple submitters
- ADGRE2 p.Leu445Pro Uncertain significance Multiple submitters
- ADGRE2 p.Met524Val Uncertain significance Multiple submitters
- ADGRE2 p.Phe281Leu Benign Multiple submitters
- ADGRE2 p.Ser519Thr Uncertain significance Multiple submitters
- ADGRE2 p.Ser545Arg Uncertain significance Multiple submitters
- ADGRE2 p.Thr178Asn Benign Multiple submitters
-
ADGRE2 p.Thr277Lys
Uncertain significance
Multiple submitters
autosomal dominant vibratory urticaria
- ADGRE2 p.Thr277Met Uncertain significance Multiple submitters
- ADGRE2 p.Thr627Ala Uncertain significance Multiple submitters
- ADGRE2 p.Tyr608Cys Uncertain significance Multiple submitters
- ADGRE2 p.Val721Ala Uncertain significance Multiple submitters
- ADGRE2 p.Ala589Ser Uncertain significance Single submitter
- ADGRE2 p.Ala603Ser Uncertain significance Single submitter
- ADGRE2 p.Ala731Val Uncertain significance Single submitter
- ADGRE2 p.Ala755Thr Uncertain significance Single submitter
- ADGRE2 p.Arg239Cys Conflicting Single submitter
- ADGRE2 p.Arg241Gly Uncertain significance Single submitter
- ADGRE2 p.Arg323Cys Uncertain significance Single submitter
- ADGRE2 p.Arg323Gly Uncertain significance Single submitter
- ADGRE2 p.Arg323His Uncertain significance Single submitter
- ADGRE2 p.Arg46Cys Uncertain significance Single submitter
- ADGRE2 p.Arg46His Conflicting Single submitter
- ADGRE2 p.Arg472Cys Uncertain significance Single submitter
- ADGRE2 p.Arg4His Uncertain significance Single submitter
- ADGRE2 p.Arg513Cys Uncertain significance Single submitter
- ADGRE2 p.Arg629Trp Uncertain significance Single submitter
- ADGRE2 p.Arg675Cys Uncertain significance Single submitter
- ADGRE2 p.Arg713Ile Conflicting Single submitter
- ADGRE2 p.Arg725Trp Likely benign Single submitter
- ADGRE2 p.Arg786Gln Benign Single submitter
- ADGRE2 p.Arg797Gly Uncertain significance Single submitter
-
ADGRE2 p.Asn165Ser
Uncertain significance
Single submitter
vibratory urticaria
- ADGRE2 p.Asn298Asp Uncertain significance Single submitter
- ADGRE2 p.Asn354Lys Uncertain significance Single submitter
- ADGRE2 p.Asn48Ser Uncertain significance Single submitter
- ADGRE2 p.Asn699Ser Uncertain significance Single submitter
- ADGRE2 p.Asn718Ser Uncertain significance Single submitter
- ADGRE2 p.Asp309Tyr Uncertain significance Single submitter
- ADGRE2 p.Asp36Val Uncertain significance Single submitter
- ADGRE2 p.Asp67Asn Uncertain significance Single submitter
-
ADGRE2 p.Cys492Tyr
Conflicting
Single submitter
vibratory urticaria
- ADGRE2 p.Gln146Pro Benign Single submitter
- ADGRE2 p.Gln565Arg Uncertain significance Single submitter
- ADGRE2 p.Gln592Leu Uncertain significance Single submitter
- ADGRE2 p.Gln737Leu Uncertain significance Single submitter
- ADGRE2 p.Glu114Lys Uncertain significance Single submitter
- ADGRE2 p.Glu122Lys Benign Single submitter
- ADGRE2 p.Glu215Lys Uncertain significance Single submitter
- ADGRE2 p.Glu319Lys Uncertain significance Single submitter
- ADGRE2 p.Glu338Lys Uncertain significance Single submitter
- ADGRE2 p.Glu362Lys Uncertain significance Single submitter
- ADGRE2 p.Glu424Lys Uncertain significance Single submitter
- ADGRE2 p.Glu63Lys Uncertain significance Single submitter
- ADGRE2 p.Glu70Lys Conflicting Single submitter
- ADGRE2 p.Gly105Arg Benign Single submitter
- ADGRE2 p.Gly134Arg Uncertain significance Single submitter
- ADGRE2 p.Gly185Ser Uncertain significance Single submitter
- ADGRE2 p.Gly219Arg Uncertain significance Single submitter
- ADGRE2 p.Gly219Trp Uncertain significance Single submitter
- ADGRE2 p.Gly219Val Uncertain significance Single submitter
- ADGRE2 p.Gly249Arg Conflicting Single submitter
- ADGRE2 p.Gly316Glu Uncertain significance Single submitter
- ADGRE2 p.Gly403Ser Uncertain significance Single submitter
- ADGRE2 p.Gly742Ser Uncertain significance Single submitter
- ADGRE2 p.Gly753Val Uncertain significance Single submitter
- ADGRE2 p.Gly771Ser Uncertain significance Single submitter
- ADGRE2 p.Gly790Glu Uncertain significance Single submitter
- ADGRE2 p.His175Arg Uncertain significance Single submitter
- ADGRE2 p.His175Pro Benign Single submitter
- ADGRE2 p.His221Arg Uncertain significance Single submitter
- ADGRE2 p.His516Tyr Uncertain significance Single submitter
- ADGRE2 p.His526Tyr Uncertain significance Single submitter
- ADGRE2 p.His572Arg Uncertain significance Single submitter
- ADGRE2 p.His607Leu Uncertain significance Single submitter
- ADGRE2 p.Ile58Leu Uncertain significance Single submitter
- ADGRE2 p.Ile590Thr Uncertain significance Single submitter
- ADGRE2 p.Ile602Thr Conflicting Single submitter
- ADGRE2 p.Ile685Thr Uncertain significance Single submitter
- ADGRE2 p.Ile68Phe Uncertain significance Single submitter
- ADGRE2 p.Ile709Val Uncertain significance Single submitter
-
ADGRE2 p.Ile740Thr
Uncertain significance
Single submitter
autosomal dominant vibratory urticaria
-
ADGRE2 p.Leu153Phe
Uncertain significance
Single submitter
vibratory urticaria
- ADGRE2 p.Leu348Phe Uncertain significance Single submitter
- ADGRE2 p.Leu413Val Uncertain significance Single submitter
- ADGRE2 p.Leu428Phe Uncertain significance Single submitter
- ADGRE2 p.Leu428Pro Likely benign Single submitter
- ADGRE2 p.Leu461Phe Uncertain significance Single submitter
- ADGRE2 p.Leu577Phe Uncertain significance Single submitter
- ADGRE2 p.Leu598Pro Uncertain significance Single submitter
- ADGRE2 p.Leu626Phe Conflicting Single submitter
- ADGRE2 p.Leu646Pro Uncertain significance Single submitter
- ADGRE2 p.Leu678Phe Uncertain significance Single submitter
- ADGRE2 p.Leu781Ile Uncertain significance Single submitter
- ADGRE2 p.Lys562Glu Uncertain significance Single submitter
- ADGRE2 p.Lys800Thr Uncertain significance Single submitter
- ADGRE2 p.Met384Ile Uncertain significance Single submitter
- ADGRE2 p.Met410Ile Conflicting Single submitter
- ADGRE2 p.Met617Leu Conflicting Single submitter
- ADGRE2 p.Met643Ile Uncertain significance Single submitter
- ADGRE2 p.Met647Lys Likely benign Single submitter
- ADGRE2 p.Met729Ile Uncertain significance Single submitter
- ADGRE2 p.Phe355Ser Uncertain significance Single submitter
- ADGRE2 p.Phe467Leu Uncertain significance Single submitter
- ADGRE2 p.Phe625Leu Uncertain significance Single submitter
- ADGRE2 p.Pro197Leu Uncertain significance Single submitter
-
ADGRE2 p.Pro19Leu
Conflicting
Single submitter
vibratory urticaria
- ADGRE2 p.Pro294Thr Uncertain significance Single submitter
- ADGRE2 p.Pro315Ala Uncertain significance Single submitter
- ADGRE2 p.Pro34His Uncertain significance Single submitter
- ADGRE2 p.Pro667Ser Uncertain significance Single submitter
- ADGRE2 p.Pro754Leu Uncertain significance Single submitter
- ADGRE2 p.Ser26Phe Uncertain significance Single submitter
- ADGRE2 p.Ser547Cys Uncertain significance Single submitter
- ADGRE2 p.Ser576Leu Uncertain significance Single submitter
- ADGRE2 p.Ser674Cys Uncertain significance Single submitter
- ADGRE2 p.Ser716Phe Uncertain significance Single submitter
- ADGRE2 p.Ser722Pro Uncertain significance Single submitter
- ADGRE2 p.Ser722Thr Uncertain significance Single submitter
- ADGRE2 p.Ser782Cys Uncertain significance Single submitter
- ADGRE2 p.Ser810Asn Uncertain significance Single submitter
- ADGRE2 p.Ser811Gly Uncertain significance Single submitter
- ADGRE2 p.Ser83Leu Conflicting Single submitter
- ADGRE2 p.Thr168Asn Uncertain significance Single submitter
- ADGRE2 p.Thr168Pro Uncertain significance Single submitter
- ADGRE2 p.Thr466Ile Uncertain significance Single submitter
- ADGRE2 p.Thr505Ile Uncertain significance Single submitter
- ADGRE2 p.Thr569Asn Uncertain significance Single submitter
- ADGRE2 p.Thr613Ile Uncertain significance Single submitter
All ADGRE2 variants
Likely pathogenic 1
- p.Gln426Ter Single submitter vibratory urticaria
Conflicting classifications of pathogenicity 28
- p.Ala415Thr Single submitter vibratory urticaria ⚠
- p.Ala756Ser Single submitter ⚠
- p.Arg239Cys Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg713Ile Single submitter ⚠
- p.Arg725Gln Single submitter ⚠
- p.Asp119His Single submitter ⚠
- p.Asp283Asn Single submitter ⚠
- p.Cys492Tyr Single submitter vibratory urticaria ⚠
- p.Cys500Tyr Single submitter ⚠
- p.Glu70Lys Single submitter ⚠
- p.Gly249Arg Single submitter ⚠
- p.Gly2Glu Single submitter ⚠
- p.Gly543_Leu544insTer Single submitter
- p.Gly594Ter Single submitter autosomal dominant vibratory urticaria
- p.Ile58Phe Single submitter ⚠
- p.Ile602Thr Single submitter ⚠
- p.Leu626Phe Single submitter ⚠
- p.Met410Ile Single submitter ⚠
- p.Met617Leu Single submitter ⚠
- p.Pro19Leu Single submitter vibratory urticaria ⚠
- p.Ser570Ter Single submitter autosomal dominant vibratory urticaria
- p.Ser83Leu Single submitter ⚠
- p.Thr498fs Single submitter
- p.Thr632Met Single submitter ⚠
- p.Trp708Ter Single submitter autosomal dominant vibratory urticaria
- p.Val103Ile Single submitter ⚠
- p.Val705Leu Single submitter ⚠
Benign 65
- c.488-7T>C Multiple submitters
- p.Arg629Gln Multiple submitters ⚠
- p.Cys693= Multiple submitters
- p.Gln188His Multiple submitters
- p.Leu614Phe Multiple submitters vibratory urticaria
- p.Phe281Leu Multiple submitters ⚠
- p.Phe282= Multiple submitters
- p.Pro193= Multiple submitters
- p.Pro399= Multiple submitters
- p.Thr178Asn Multiple submitters ⚠
- c.1084+19_1084+36del Single submitter
- c.1085-10C>T Single submitter
- c.1193-9G>A Single submitter
- c.1590+17G>C Single submitter
- c.1788+10G>A Single submitter
- c.1788+12G>A Single submitter
- c.199+49T>C Single submitter
- c.2183+11G>A Single submitter
- c.2184-17_2184-3del Single submitter
- c.2353-16C>T Single submitter
- c.635-2A>C Single submitter
- c.83-19G>A Single submitter
- c.906+13C>T Single submitter
- c.906+7A>G Single submitter
- p.Ala314Val Single submitter
- p.Arg786Gln Single submitter ⚠
- p.Asn699delinsLeuGlyLeuGlnAlaTer Single submitter
- p.Asn699fs Single submitter
- p.Asp25Asn Single submitter
- p.Asp36= Single submitter
- p.Asp66= Single submitter
- p.Cys147Phe Single submitter
- p.Cys514Phe Single submitter
- p.Gln146Pro Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu166Asp Single submitter
- p.Glu720Asp Single submitter
- p.Gly105Arg Single submitter ⚠
- p.His175Pro Single submitter ⚠
- p.His607fs Single submitter
- p.Ile511Val Single submitter
- p.Ile601_Ile602insMetMetLeuCysSerIle Single submitter
- p.Leu18fs Single submitter
- p.Leu551= Single submitter
- p.Leu724= Single submitter
- p.Phe586fs Single submitter
- p.Pro98= Single submitter
- p.Ser518Arg Single submitter
- p.Ser665Phe Single submitter
- p.Ser83= Single submitter
- p.Thr144= Single submitter ADGRE2-related disorder
- p.Thr593= Single submitter
- p.Thr605Ile Single submitter
- p.Thr821Met Single submitter ⚠
- p.Trp195Ter Single submitter
- p.Trp244Ser Single submitter
- p.Trp485Ter Single submitter
- p.Trp745Ter Single submitter
- p.Trp792Ter Single submitter
- p.Tyr143= Single submitter ADGRE2-related disorder
- p.Tyr292Ser Single submitter ⚠
- p.Val233Met Single submitter ⚠
- p.Val401Met Single submitter ⚠
- p.Val698fs Single submitter
- p.Gln188Arg No assertion criteria ADGRE2-related disorder
Benign/Likely benign 3
- p.Ala307Val Multiple submitters vibratory urticaria ⚠
- p.Arg46= Multiple submitters
- p.Asn640Ser Multiple submitters vibratory urticaria
Likely benign 196
- p.Gln565fs Multiple submitters autosomal dominant vibratory urticaria
- c.1084+11G>A Single submitter
- c.1084+12G>A Single submitter
- c.1085-13C>T Single submitter
- c.1085-7C>T Single submitter
- c.1192+12G>T Single submitter
- c.1193-10C>T Single submitter
- c.1193-18C>T Single submitter
- c.1193-6C>T Single submitter
- c.1416+12_1416+14del Single submitter
- c.1416+18T>G Single submitter
- c.1416+3G>C Single submitter
- c.1416+7G>A Single submitter
- c.1416+9T>C Single submitter
- c.1417-12_1417-11dup Single submitter
- c.1417-16T>C Single submitter
- c.1417-17G>C Single submitter
- c.1417-4G>A Single submitter
- c.1590+14G>A Single submitter
- c.1590+16G>A Single submitter
- c.1591-16_1591-14del Single submitter
- c.1591-18T>C Single submitter
- c.1591-8G>C Single submitter
- c.1788+11C>T Single submitter
- c.1788+14T>C Single submitter
- c.1788+20A>G Single submitter
- c.1789-14T>C Single submitter
- c.1789-20G>A Single submitter
- c.1789-5G>A Single submitter
- c.1789-5G>T Single submitter
- c.1789-6C>T Single submitter
- c.1789-7C>A Single submitter
- c.199+11T>G Single submitter
- c.199+13G>C Single submitter
- c.200-13T>C Single submitter
- c.200-15C>T Single submitter
- c.200-16T>C Single submitter
- c.200-18T>C Single submitter
- c.200-5T>C Single submitter
- c.2024+20A>G Single submitter
- c.2092-17_2092-15del Single submitter
- c.2183+10_2183+11insT Single submitter
- c.2183+10A>C Single submitter
- c.2183+15G>C Single submitter
- c.2183+18G>A Single submitter
- c.2184-16T>C Single submitter
- c.2352+16T>G Single submitter
- c.2352+9G>T Single submitter
- c.2353-7T>C Single submitter
- c.2463+10C>T Single submitter
- c.2463+11G>A Single submitter
- c.2463+11G>C Single submitter
- c.2463+19C>T Single submitter
- c.2464-12T>C Single submitter
- c.2464-17AT[5] Single submitter
- c.2464-17AT[7] Single submitter
- c.31+15G>A Single submitter
- c.31+19C>T Single submitter
- c.31+9T>A Single submitter
- c.32-10T>C Single submitter
- c.32-12del Single submitter
- c.32-16C>T Single submitter
- c.32-20C>T Single submitter
- c.32-7G>A Single submitter
- c.355+9C>T Single submitter
- c.82+12G>A Single submitter
- c.82+13G>A Single submitter
- c.82+9G>A Single submitter
- c.829-12CT[5] Single submitter
- c.829-14T>C Single submitter
- c.829-14T>G Single submitter
- c.829-18C>T Single submitter
- c.829-5T>C Single submitter
- c.83-20C>T Single submitter
- c.83-7C>T Single submitter
- c.83-9C>T Single submitter
- c.906+11G>A Single submitter
- c.906+14C>A Single submitter
- c.906+17G>A Single submitter
- c.907-10A>T Single submitter
- c.907-11C>T Single submitter
- c.907-9T>A Single submitter
- p.Ala307= Single submitter
- p.Ala42= Single submitter
- p.Ala44= Single submitter
- p.Ala451= Single submitter
- p.Ala521= Single submitter
- p.Ala554= Single submitter
- p.Ala563= Single submitter
- p.Ala589Gly Single submitter
- p.Ala603= Single submitter
- p.Ala734= Single submitter
- p.Ala736= Single submitter
- p.Ala756= Single submitter
- p.Arg4= Single submitter
- p.Arg725Trp Single submitter ⚠
- p.Asn111= Single submitter
- p.Asn456= Single submitter
- p.Asn69= Single submitter
- p.Asp25= Single submitter
- p.Asp439= Single submitter
- p.Asp67= Single submitter
- p.Asp815= Single submitter
- p.Cys136= Single submitter
- p.Cys238= Single submitter
- p.Cys29Tyr Single submitter
- p.Cys550= Single submitter
- p.Cys65= Single submitter
- p.Cys94= Single submitter
- p.Gln426= Single submitter
- p.Gln737= Single submitter
- p.Gln788= Single submitter
- p.Glu112= Single submitter
- p.Glu114= Single submitter
- p.Glu313= Single submitter
- p.Glu422= Single submitter
- p.Glu531= Single submitter
- p.Gly134Ser Single submitter
- p.Gly295= Single submitter
- p.Gly295Ala Single submitter
- p.Gly295Ser Single submitter
- p.Gly3= Single submitter
- p.Gly504= Single submitter
- p.Gly687= Single submitter
- p.Gly748= Single submitter
- p.Gly790= Single submitter
- p.His668= Single submitter
- p.Ile539= Single submitter
- p.Ile602= Single submitter
- p.Ile765= Single submitter
- p.Leu140= Single submitter
- p.Leu18= Single submitter
- p.Leu288= Single submitter
- p.Leu296Ser Single submitter
- p.Leu311= Single submitter
- p.Leu341= Single submitter
- p.Leu414= Single submitter
- p.Leu419= Single submitter
- p.Leu428Pro Single submitter ⚠
- p.Leu444= Single submitter
- p.Leu536= Single submitter
- p.Leu548= Single submitter
- p.Leu553= Single submitter
- p.Leu584= Single submitter
- p.Leu598= Single submitter
- p.Leu7= Single submitter
- p.Leu738= Single submitter
- p.Leu74= Single submitter
- p.Leu781= Single submitter
- p.Met542Val Single submitter
- p.Met647Lys Single submitter ⚠
- p.Phe452= Single submitter
- p.Phe469= Single submitter
- p.Pro19= Single submitter
- p.Pro442= Single submitter
- p.Pro476= Single submitter
- p.Pro49= Single submitter
- p.Pro534= Single submitter
- p.Pro61= Single submitter
- p.Pro649= Single submitter
- p.Pro754= Single submitter
- p.Ser113= Single submitter
- p.Ser38= Single submitter
- p.Ser400= Single submitter
- p.Ser441= Single submitter
- p.Ser463= Single submitter
- p.Ser570= Single submitter
- p.Ser576= Single submitter
- p.Ser662= Single submitter
- p.Ser75= Single submitter
- p.Thr108= Single submitter
- p.Thr116= Single submitter
- p.Thr277Ser Single submitter
- p.Thr300= Single submitter
- p.Thr605= Single submitter
- p.Thr632= Single submitter
- p.Thr672= Single submitter
- p.Thr744= Single submitter
- p.Tyr527= Single submitter
- p.Tyr527Ser Single submitter ⚠
- p.Tyr541= Single submitter
- p.Tyr652= Single submitter
- p.Tyr92= Single submitter
- p.Val137Ile Single submitter
- p.Val367= Single submitter
- p.Val383= Single submitter
- p.Val401= Single submitter
- p.Val474= Single submitter
- p.Val588= Single submitter
- p.Val634= Single submitter
- c.782-5T>C No assertion criteria ADGRE2-related disorder
- c.782-8C>G No assertion criteria ADGRE2-related disorder
- c.-10A>T No assertion criteria ADGRE2-related disorder
- p.Pro173= No assertion criteria ADGRE2-related disorder
- p.Pro269= No assertion criteria ADGRE2-related disorder
- p.Ser218= No assertion criteria ADGRE2-related disorder
Uncertain significance 354
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala359Gly Multiple submitters ⚠
- p.Ala44Thr Multiple submitters ⚠
- p.Ala554Val Multiple submitters ⚠
- p.Ala555Ser Multiple submitters ⚠
- p.Ala589Thr Multiple submitters ⚠
- p.Ala603Thr Multiple submitters ⚠
- p.Ala656Thr Multiple submitters ⚠
- p.Ala664Gly Multiple submitters ⚠
- p.Ala694Thr Multiple submitters ⚠
- p.Ala734Val Multiple submitters ⚠
- p.Arg27Gly Multiple submitters ⚠
- p.Arg513His Multiple submitters ⚠
- p.Arg713Thr Multiple submitters ⚠
- p.Arg757Trp Multiple submitters ⚠
- p.Arg786Trp Multiple submitters ⚠
- p.Asn41Ser Multiple submitters ⚠
- p.Asp528Asn Multiple submitters ⚠
- p.Cys550Ter Multiple submitters autosomal dominant vibratory urticaria
- p.Cys561Tyr Multiple submitters ⚠
- p.Cys65Ser Multiple submitters ⚠
- p.Gln24Arg Multiple submitters ⚠
- p.Gln565Lys Multiple submitters ⚠
- p.Gln783His Multiple submitters ⚠
- p.Gly295Cys Multiple submitters ⚠
- p.Gly604Ser Multiple submitters ⚠
- p.Gly653Arg Multiple submitters ⚠
- p.Gly683Glu Multiple submitters ⚠
- p.Gly80Arg Multiple submitters ⚠
- p.His471Arg Multiple submitters ⚠
- p.His668Gln Multiple submitters ⚠
- p.Ile503Thr Multiple submitters ⚠
- p.Ile740Val Multiple submitters ⚠
- p.Leu311Met Multiple submitters ⚠
- p.Leu321Val Multiple submitters ⚠
- p.Leu365Pro Multiple submitters ⚠
- p.Leu445Pro Multiple submitters ⚠
- p.Leu702Ile Multiple submitters ⚠
- p.Met524Val Multiple submitters ⚠
- p.Phe763Val Multiple submitters ⚠
- p.Pro476Leu Multiple submitters ⚠
- p.Ser519Thr Multiple submitters ⚠
- p.Ser545Arg Multiple submitters ⚠
- p.Ser547Phe Multiple submitters ⚠
- p.Thr17Ala Multiple submitters ⚠
- p.Thr277Lys Multiple submitters autosomal dominant vibratory urticaria ⚠
- p.Thr277Met Multiple submitters ⚠
- p.Thr627Ala Multiple submitters ⚠
- p.Thr64Ile Multiple submitters ⚠
- p.Thr73Ala Multiple submitters ⚠
- p.Thr744Arg Multiple submitters ⚠
- p.Tyr608Cys Multiple submitters ⚠
- p.Val721Ala Multiple submitters ⚠
- c.1085-3_1085-2del Single submitter
- c.1085-3T>C Single submitter
- c.1192+6G>A Single submitter
- c.1193-6C>A Single submitter
- c.1591-1G>T Single submitter
- c.1591-9G>A Single submitter
- c.1788+1G>A Single submitter
- c.1789-2A>G Single submitter
- c.199+10C>T Single submitter
- c.199+1G>T Single submitter
- c.199+4C>T Single submitter
- c.2024+1G>A Single submitter
- c.2092-10T>C Single submitter
- c.2352+2T>A Single submitter
- c.2353-3C>T Single submitter
- c.2353-4_2354del Single submitter
- c.2463+1G>A Single submitter
- c.2464-10T>C Single submitter
- c.31+2_31+3insGTCTTTCTC Single submitter vibratory urticaria
- c.31+3A>G Single submitter
- c.355_355+7del Single submitter
- c.82+2T>G Single submitter
- c.82+4A>G Single submitter
- c.829-11_829-10delinsGT Single submitter
- c.906+6G>A Single submitter
- c.907-7_907-6delinsTT Single submitter
- p.5VFL[1] Single submitter
- p.Ala307Ser Single submitter ⚠
- p.Ala451Pro Single submitter ⚠
- p.Ala589Ser Single submitter ⚠
- p.Ala603Ser Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Ala731Val Single submitter ⚠
- p.Ala755Thr Single submitter ⚠
- p.Ala812Thr Single submitter ⚠
- p.Arg190His Single submitter ⚠
- p.Arg192His Single submitter ⚠
- p.Arg239His Single submitter ⚠
- p.Arg241Gly Single submitter ⚠
- p.Arg27Lys Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg280Ter Single submitter
- p.Arg31Gln Single submitter ⚠
- p.Arg31Pro Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Arg323Gly Single submitter ⚠
- p.Arg323His Single submitter ⚠
- p.Arg342Lys Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg472His Single submitter ⚠
- p.Arg472Pro Single submitter ⚠
- p.Arg4His Single submitter ⚠
- p.Arg4Leu Single submitter ⚠
- p.Arg513Cys Single submitter ⚠
- p.Arg629Trp Single submitter ⚠
- p.Arg666Lys Single submitter ⚠
- p.Arg675Cys Single submitter ⚠
- p.Arg675fs Single submitter
- p.Arg675His Single submitter ⚠
- p.Arg757Gln Single submitter ⚠
- p.Arg797Gly Single submitter ⚠
- p.Asn165Ser Single submitter vibratory urticaria ⚠
- p.Asn207His Single submitter ⚠
- p.Asn298Asp Single submitter ⚠
- p.Asn350Asp Single submitter ⚠
- p.Asn354Lys Single submitter ⚠
- p.Asn455Lys Single submitter ⚠
- p.Asn456Lys Single submitter ⚠
- p.Asn48Asp Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asn490Asp Single submitter ⚠
- p.Asn640His Single submitter ⚠
- p.Asn699Ser Single submitter ⚠
- p.Asn69del Single submitter
- p.Asn712Ser Single submitter ⚠
- p.Asn718Ser Single submitter ⚠
- p.Asp283His Single submitter ⚠
- p.Asp309Tyr Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp36Val Single submitter ⚠
- p.Asp372Glu Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Asp396Glu Single submitter ⚠
- p.Asp439Val Single submitter ⚠
- p.Asp457Asn Single submitter ⚠
- p.Asp507Asn Single submitter ⚠
- p.Asp67Asn Single submitter ⚠
- p.Asp67Val Single submitter ⚠
- p.Asp84Tyr Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Cys167Arg Single submitter ⚠
- p.Cys180Tyr Single submitter ⚠
- p.Cys210Arg Single submitter ⚠
- p.Cys223Arg Single submitter ⚠
- p.Cys229Arg Single submitter ⚠
- p.Cys45Tyr Single submitter ⚠
- p.Cys512Trp Single submitter ⚠
- p.Cys512Tyr Single submitter ⚠
- p.Cys578Ser Single submitter ⚠
- p.Cys578Ter Single submitter
- p.Cys676Phe Single submitter ⚠
- p.Cys676Tyr Single submitter ⚠
- p.Cys693Ter Single submitter
- p.Cys71Gly Single submitter ⚠
- p.Cys743Phe Single submitter ⚠
- p.Cys746Ser Single submitter ⚠
- p.Cys779Ter Single submitter
- p.Cys79Arg Single submitter ⚠
- p.Cys85Gly Single submitter autosomal dominant vibratory urticaria ⚠
- p.Cys85Ser Single submitter ⚠
- p.Gln118= Single submitter
- p.Gln276Arg Single submitter ⚠
- p.Gln276Leu Single submitter ⚠
- p.Gln302= Single submitter
- p.Gln35Arg Single submitter ⚠
- p.Gln370= Single submitter
- p.Gln370Arg Single submitter ⚠
- p.Gln438Lys Single submitter ⚠
- p.Gln478Glu Single submitter ⚠
- p.Gln478Lys Single submitter ⚠
- p.Gln565Arg Single submitter ⚠
- p.Gln574Ter Single submitter
- p.Gln592Leu Single submitter ⚠
- p.Gln679His Single submitter ⚠
- p.Gln737Leu Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu215Lys Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu338Lys Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Glu366del Single submitter
- p.Glu416Asp Single submitter ⚠
- p.Glu422Gly Single submitter ⚠
- p.Glu424Lys Single submitter ⚠
- p.Glu63Gln Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly185Ser Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly219Trp Single submitter ⚠
- p.Gly219Val Single submitter ⚠
- p.Gly289Cys Single submitter
- p.Gly295Asp Single submitter ⚠
- p.Gly295Val Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.Gly316Glu Single submitter ⚠
- p.Gly395Ala Single submitter ⚠
- p.Gly403Ser Single submitter ⚠
- p.Gly435Ser Single submitter ⚠
- p.Gly440Ser Single submitter ⚠
- p.Gly742Ser Single submitter ⚠
- p.Gly753Val Single submitter ⚠
- p.Gly771Ser Single submitter ⚠
- p.Gly790Glu Single submitter ⚠
- p.Gly99Arg Single submitter ⚠
- p.Gly99Glu Single submitter ⚠
- p.His175Arg Single submitter ⚠
- p.His221Arg Single submitter ⚠
- p.His433Pro Single submitter ⚠
- p.His516Tyr Single submitter ⚠
- p.His526Tyr Single submitter ⚠
- p.His572Arg Single submitter ⚠
- p.His595fs Single submitter
- p.His595Gln Single submitter ⚠
- p.His607Leu Single submitter ⚠
- p.His806Arg Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile564fs Single submitter
- p.Ile58Leu Single submitter ⚠
- p.Ile590Thr Single submitter ⚠
- p.Ile685Thr Single submitter ⚠
- p.Ile68Phe Single submitter ⚠
- p.Ile709Val Single submitter ⚠
- p.Ile740Thr Single submitter autosomal dominant vibratory urticaria ⚠
- p.Ile796fs Single submitter
- p.Leu10_Ala11insValPheLeu Single submitter
- p.Leu153Phe Single submitter vibratory urticaria ⚠
- p.Leu333Pro Single submitter ⚠
- p.Leu333Val Single submitter ⚠
- p.Leu337Pro Single submitter ⚠
- p.Leu348Phe Single submitter ⚠
- p.Leu386= Single submitter
- p.Leu413Val Single submitter ⚠
- p.Leu428Phe Single submitter ⚠
- p.Leu461Phe Single submitter ⚠
- p.Leu548Pro Single submitter ⚠
- p.Leu575His Single submitter ⚠
- p.Leu577Phe Single submitter ⚠
- p.Leu598Pro Single submitter ⚠
- p.Leu646Pro Single submitter ⚠
- p.Leu678Phe Single submitter ⚠
- p.Leu704= Single submitter
- p.Leu704_Val705insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter
- p.Leu74Pro Single submitter ⚠
- p.Leu781Ile Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys110Arg Single submitter ⚠
- p.Lys110Gln Single submitter ⚠
- p.Lys154Ile Single submitter vibratory urticaria ⚠
- p.Lys293Glu Single submitter ⚠
- p.Lys369Asn Single submitter ⚠
- p.Lys479Ter Single submitter
- p.Lys562Glu Single submitter ⚠
- p.Lys596Glu Single submitter ⚠
- p.Lys800Thr Single submitter ⚠
- p.Lys813Ter Single submitter
- p.Met1Ile Single submitter
- p.Met1Thr Single submitter
- p.Met384Ile Single submitter ⚠
- p.Met62Thr Single submitter ⚠
- p.Met643Ile Single submitter ⚠
- p.Met647Ile Single submitter ⚠
- p.Met729Ile Single submitter ⚠
- p.Phe12Leu Single submitter ⚠
- p.Phe355Ser Single submitter ⚠
- p.Phe467Leu Single submitter ⚠
- p.Phe520Cys Single submitter ⚠
- p.Phe520Ser Single submitter ⚠
- p.Phe625Leu Single submitter ⚠
- p.Phe684fs Single submitter
- p.Phe688fs Single submitter
- p.Phe775Cys Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro294Thr Single submitter ⚠
- p.Pro315Ala Single submitter ⚠
- p.Pro34His Single submitter ⚠
- p.Pro61Arg Single submitter ⚠
- p.Pro667Ser Single submitter ⚠
- p.Pro673Ser Single submitter ⚠
- p.Pro691Arg Single submitter ⚠
- p.Pro754Leu Single submitter ⚠
- p.Pro819Arg Single submitter ⚠
- p.Pro98Ala Single submitter ⚠
- p.Ser26Phe Single submitter ⚠
- p.Ser303Gly Single submitter ⚠
- p.Ser38Leu Single submitter ⚠
- p.Ser38Ter Single submitter
- p.Ser406Pro Single submitter ⚠
- p.Ser462Thr Single submitter ⚠
- p.Ser547Cys Single submitter ⚠
- p.Ser576Leu Single submitter ⚠
- p.Ser674Cys Single submitter ⚠
- p.Ser716Phe Single submitter ⚠
- p.Ser722Pro Single submitter ⚠
- p.Ser722Thr Single submitter ⚠
- p.Ser782Cys Single submitter ⚠
- p.Ser78Ter Single submitter