IL31RA — 136 ClinVar variants

All ClinVar germline IL31RA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Pathogenic · 1 Conflicting · 13 Benign · 2 Benign/Likely benign · 28 Likely benign · 91 Uncertain significance

Full IL31RA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All IL31RA variants

Pathogenic 1

p.Ser521Phe No assertion criteria amyloidosis, primary localized cutaneous, 2

Conflicting classifications of pathogenicity 1

p.Val237Ile Single submitter

Benign 13

c.1819-26T>G Multiple submitters amyloidosis, primary localized cutaneous, 2
c.606+29A>T Multiple submitters amyloidosis, primary localized cutaneous, 2
c.773-9T>C Multiple submitters
p.Ala236= Multiple submitters
p.Gly483= Multiple submitters amyloidosis, primary localized cutaneous, 2
p.Pro43= Multiple submitters amyloidosis, primary localized cutaneous, 2
p.Thr144= Multiple submitters
p.Ser44Leu Single submitter
c.1501+79C>T No assertion criteria IL31RA-related disorder
p.Asn103Asp No assertion criteria IL31RA-related disorder
p.Ser529Asn No assertion criteria IL31RA-related disorder
p.Thr588= No assertion criteria IL31RA-related disorder
p.Val672Leu No assertion criteria IL31RA-related disorder

Benign/Likely benign 2

p.Glu650Lys Multiple submitters
p.Pro18= Multiple submitters

Likely benign 28

c.1501+227G>A Single submitter
c.1736+7C>T Single submitter
c.1737-3T>C Single submitter
c.63+1922C>T Single submitter
c.63+1943T>C Single submitter
p.Ala273= Single submitter
p.Ala273Val Single submitter
p.Ala381= Single submitter
p.Arg280Gln Single submitter
p.Arg704Cys Single submitter
p.Arg712Cys Single submitter
p.Cys674= Single submitter
p.Glu328Lys Single submitter
p.Glu514Lys Single submitter
p.Glu754Gln Single submitter
p.Gly496Asp Single submitter
p.Gly659= Single submitter
p.Gly670= Single submitter
p.Met334Val Single submitter
p.Pro18Leu Single submitter
p.Ser343= Single submitter
p.Ser705Leu Single submitter
p.Thr221Met Single submitter
p.Thr411= Single submitter
p.Val395Met Single submitter
c.606+10G>T No assertion criteria IL31RA-related disorder
p.Leu268= No assertion criteria IL31RA-related disorder
p.Thr11= No assertion criteria IL31RA-related disorder

Uncertain significance 91

p.Ala715Thr Multiple submitters amyloidosis, primary localized cutaneous, 2
p.Ser443Thr Multiple submitters amyloidosis, primary localized cutaneous, 2
c.1070-3C>G Single submitter amyloidosis, primary localized cutaneous, 2
p.Ala273Glu Single submitter
p.Ala381Val Single submitter
p.Ala593Val Single submitter
p.Ala92Thr Single submitter
p.Arg110Cys Single submitter
p.Arg161Leu Single submitter
p.Arg277Lys Single submitter
p.Arg518Gln Single submitter
p.Arg712His Single submitter
p.Asn134Ile Single submitter
p.Asn338Asp Single submitter
p.Asn338Ser Single submitter
p.Asn385Ile Single submitter
p.Asn505His Single submitter
p.Asn591Ser Single submitter
p.Asp136Tyr Single submitter
p.Asp245Glu Single submitter
p.Asp607Val Single submitter
p.Asp633Gly Single submitter
p.Cys260Arg Single submitter
p.Cys425Phe Single submitter
p.Cys674Phe Single submitter
p.Cys732Tyr Single submitter
p.Gln409Lys Single submitter
p.Glu249Ala Single submitter
p.Glu734Asp Single submitter
p.Glu79Gly Single submitter
p.Gly137Val Single submitter
p.Gly327Ser Single submitter
p.Gly534Glu Single submitter
p.Gly562Val Single submitter
p.His324Arg Single submitter
p.His435Tyr Single submitter
p.His759Tyr Single submitter
p.Ile428Asn Single submitter
p.Ile476Val Single submitter
p.Ile553Asn Single submitter
p.Ile565Leu Single submitter
p.Leu192Phe Single submitter
p.Leu39Val Single submitter
p.Leu581Phe Single submitter
p.Leu648Pro Single submitter
p.Leu703Ile Single submitter
p.Leu720Phe Single submitter
p.Lys467Asn Single submitter
p.Lys498Arg Single submitter
p.Lys576Ile Single submitter
p.Met143Val Single submitter
p.Met251Thr Single submitter
p.Met314Ile Single submitter
p.Met334Leu Single submitter
p.Met41Ile Single submitter
p.Phe194Leu Single submitter
p.Phe358Leu Single submitter
p.Phe392Cys Single submitter
p.Phe392Leu Single submitter
p.Pro179Ala Single submitter
p.Pro183Ser Single submitter
p.Pro24His Single submitter
p.Pro304Ser Single submitter
p.Pro393Gln Single submitter
p.Pro587Ser Single submitter
p.Pro739Ser Single submitter
p.Pro757Ser Single submitter
p.Ser380Cys Single submitter
p.Ser629Tyr Single submitter
p.Ser685Gly Single submitter
p.Ser705Trp Single submitter
p.Thr386Ser Single submitter
p.Thr411Met Single submitter
p.Thr414Ala Single submitter
p.Thr468Met Single submitter
p.Thr470Met Single submitter
p.Thr582Ile Single submitter
p.Thr630Ser Single submitter
p.Thr760Ala Single submitter
p.Trp37Gly Single submitter
p.Trp387Cys Single submitter
p.Trp473Gly Single submitter
p.Tyr229Asn Single submitter
p.Tyr492His Single submitter
p.Tyr65His Single submitter
p.Val197Asp Single submitter
p.Val230Phe Single submitter
p.Val374Ala Single submitter
p.Val647Ala Single submitter
p.Val647Ile Single submitter
p.Asn20Ser No assertion criteria