PUM2 — 113 ClinVar variants

All ClinVar germline PUM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Benign · 2 Likely benign · 110 Uncertain significance

Full PUM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All PUM2 variants

Benign 1

p.Pro1051Leu Single submitter

Likely benign 2

p.Asn193Ser Single submitter
p.Tyr1032= Single submitter

Uncertain significance 110

c.349-2A>G Single submitter autism spectrum disorder
p.Ala1040Val Single submitter
p.Ala167Val Single submitter
p.Ala181Ser Single submitter
p.Ala251Thr Single submitter
p.Ala317Gly Single submitter
p.Ala326Val Single submitter
p.Ala365Val Single submitter
p.Ala374Val Single submitter
p.Ala406Val Single submitter
p.Ala465Thr Single submitter
p.Ala482Glu Single submitter
p.Ala52Val Single submitter
p.Ala562Pro Single submitter
p.Arg13Gln Single submitter
p.Arg179Ser Single submitter
p.Arg189His Single submitter
p.Arg387Cys Single submitter
p.Arg696Trp Single submitter
p.Arg709Gly Single submitter
p.Arg715Gly Single submitter
p.Arg798Cys Single submitter
p.Arg932Gln Single submitter
p.Arg944fs Single submitter
p.Arg969Cys Single submitter
p.Arg969Gly Single submitter
p.Asn367Asp Single submitter
p.Asn398Ser Single submitter
p.Asn496Asp Single submitter
p.Asn983Ile Single submitter
p.Asp935Asn Single submitter
p.Asp935Gly Single submitter
p.Asp977Asn Single submitter
p.Asp977Glu Single submitter
p.Gln142Lys Single submitter
p.Gln243Glu Single submitter
p.Gln373Glu Single submitter
p.Gln404His Single submitter
p.Gln828Ter Single submitter
p.Glu26Asp Single submitter
p.Glu586Asp Single submitter
p.Glu857Lys Single submitter
p.Gly199Glu Single submitter
p.Gly296Asp Single submitter
p.Gly347Ser Single submitter
p.Gly37Asp Single submitter
p.Gly400Ser Single submitter
p.Gly556Asp Single submitter
p.Gly623Val Single submitter
p.Gly73Glu Single submitter
p.Gly931Ser Single submitter
p.His541Pro Single submitter
p.His72Arg Single submitter
p.His730Leu Single submitter
p.His908Tyr Single submitter
p.His953Arg Single submitter
p.Ile702Val Single submitter
p.Ile823Val Single submitter
p.Ile868Thr Single submitter
p.Ile976Val Single submitter
p.Leu161Val Single submitter
p.Leu498Gln Single submitter
p.Leu641Phe Single submitter
p.Leu864fs Single submitter
p.Lys1031Arg Single submitter
p.Met1009Thr Single submitter
p.Met1009Val Single submitter
p.Met1019Val Single submitter
p.Met246Val Single submitter
p.Met57Val Single submitter
p.Met810Val Single submitter
p.Phe116Cys Single submitter
p.Phe358Leu Single submitter
p.Phe358Val Single submitter
p.Phe539Leu Single submitter
p.Phe683Ser Single submitter
p.Pro126Ser Single submitter
p.Pro292Thr Single submitter
p.Pro309Ser Single submitter
p.Pro380Ser Single submitter
p.Pro466Ser Single submitter
p.Pro546Ala Single submitter
p.Pro621Ser Single submitter
p.Pro753Leu Single submitter
p.Ser371Gly Single submitter
p.Ser535Gly Single submitter
p.Ser536Gly Single submitter
p.Ser555Asn Single submitter
p.Ser568Gly Single submitter
p.Ser589Thr Single submitter
p.Ser678Gly Single submitter
p.Ser75Gly Single submitter
p.Thr175Ile Single submitter
p.Thr277Asn Single submitter
p.Thr504Ala Single submitter
p.Thr516Ser Single submitter
p.Thr549Ile Single submitter
p.Thr752Ile Single submitter
p.Thr880Pro Single submitter
p.Trp350Cys Single submitter
p.Trp350Ter Single submitter
p.Tyr239Cys Single submitter
p.Tyr524Phe Single submitter
p.Tyr811fs Single submitter
p.Val253Ile Single submitter
p.Val348Ile Single submitter
p.Val352Leu Single submitter
p.Val385Ala Single submitter
p.Val77Ile Single submitter
p.Val887Ile Single submitter