NOTUM — 87 ClinVar variants

All ClinVar germline NOTUM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

1 Benign · 1 Benign/Likely benign · 4 Likely benign · 81 Uncertain significance

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

⚑ Evidence disagreements 77

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 66

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

Predictors split 11

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

All NOTUM variants

Benign 1

p.Arg275His Single submitter

Benign/Likely benign 1

p.Cys285= Multiple submitters

Likely benign 4

p.Asp141Asn Single submitter
p.Gly4Glu Single submitter
p.Ser406= Single submitter
p.Tyr297= Single submitter

Uncertain significance 81

p.Ala205Ser Single submitter ⚠
p.Ala205Thr Single submitter ⚠
p.Ala229Thr Single submitter ⚠
p.Ala290Thr Single submitter ⚠
p.Ala74Val Single submitter ⚠
p.Arg145His Single submitter ⚠
p.Arg150Gln Single submitter ⚠
p.Arg293His Single submitter ⚠
p.Arg29Gly Single submitter ⚠
p.Arg305His Single submitter ⚠
p.Arg307Gln Single submitter ⚠
p.Arg308His Single submitter ⚠
p.Arg329Cys Single submitter ⚠
p.Arg369Cys Single submitter ⚠
p.Arg372His Single submitter ⚠
p.Arg409Gly Single submitter ⚠
p.Arg409Leu Single submitter ⚠
p.Asn348Ser Single submitter ⚠
p.Asn366His Single submitter ⚠
p.Asn366Ser Single submitter ⚠
p.Asp103Glu Single submitter ⚠
p.Asp137Gly Single submitter ⚠
p.Asp151Asn Single submitter ⚠
p.Asp281Asn Single submitter ⚠
p.Cys445Ser Single submitter ⚠
p.Gln258His Single submitter ⚠
p.Gln32Arg Single submitter ⚠
p.Gln455Lys Single submitter ⚠
p.Gln459Lys Single submitter ⚠
p.Gln465Arg Single submitter ⚠
p.Glu199Lys Single submitter ⚠
p.Glu250Lys Single submitter ⚠
p.Glu304Lys Single submitter ⚠
p.Glu341Lys Single submitter ⚠
p.Glu370Lys Single submitter ⚠
p.Glu460Val Single submitter ⚠
p.Glu50Ala Single submitter ⚠
p.Gly431Ser Single submitter ⚠
p.Gly482Glu Single submitter ⚠
p.Gly4Ala Single submitter ⚠
p.His15Tyr Single submitter ⚠
p.His389Gln Single submitter ⚠
p.His419Arg Single submitter ⚠
p.Leu122Phe Single submitter
p.Leu249Pro Single submitter ⚠
p.Leu387Phe Single submitter ⚠
p.Leu429Ile Single submitter ⚠
p.Lys112Arg Single submitter ⚠
p.Lys197Arg Single submitter ⚠
p.Met143Ile Single submitter ⚠
p.Met143Val Single submitter ⚠
p.Met470Leu Single submitter ⚠
p.Phe131Leu Single submitter ⚠
p.Phe179Leu Single submitter ⚠
p.Phe56Leu Single submitter ⚠
p.Pro303Leu Single submitter ⚠
p.Pro33Leu Single submitter ⚠
p.Pro355Leu Single submitter ⚠
p.Pro35Arg Single submitter ⚠
p.Pro35Ser Single submitter ⚠
p.Pro37Arg Single submitter ⚠
p.Pro37Ser Single submitter ⚠
p.Pro43Leu Single submitter ⚠
p.Pro443Leu Single submitter ⚠
p.Pro79Leu Single submitter ⚠
p.Ser221Asn Single submitter ⚠
p.Ser439Arg Single submitter ⚠
p.Ser439Thr Single submitter ⚠
p.Thr142Asn Single submitter ⚠
p.Thr142Ile Single submitter
p.Thr282Met Single submitter ⚠
p.Thr284Met Single submitter ⚠
p.Thr327Ile Single submitter
p.Thr345Met Single submitter ⚠
p.Thr374Ile Single submitter ⚠
p.Thr427Ala Single submitter ⚠
p.Thr427Ile Single submitter ⚠
p.Thr476Met Single submitter ⚠
p.Val301Met Single submitter ⚠
p.Val378Leu Single submitter
p.Val463Met Single submitter ⚠