NOM1 — 162 ClinVar variants

All ClinVar germline NOM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

9 Likely benign · 153 Uncertain significance

Full NOM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 117

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

Predictors split 31

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

All NOM1 variants

Likely benign 9

p.Ala299Thr Single submitter
p.Asn584Ser Single submitter
p.Cys332Arg Single submitter
p.Glu538Lys Single submitter
p.Ile326Val Single submitter
p.Leu110Pro Single submitter
p.Ser73Arg Single submitter
p.Tyr455His Single submitter
p.Val595Ile Single submitter

Uncertain significance 153

p.Ala102Val Single submitter ⚠
p.Ala133Val Single submitter ⚠
p.Ala156Val Single submitter ⚠
p.Ala164Thr Single submitter ⚠
p.Ala166Val Single submitter ⚠
p.Ala168Thr Single submitter ⚠
p.Ala170Thr Single submitter ⚠
p.Ala273Gly Single submitter ⚠
p.Ala278Ser Single submitter ⚠
p.Ala55Val Single submitter ⚠
p.Ala585Thr Single submitter ⚠
p.Ala603Val Single submitter ⚠
p.Ala646Thr Single submitter ⚠
p.Ala70Thr Single submitter ⚠
p.Ala70Val Single submitter ⚠
p.Ala831Ser Single submitter ⚠
p.Ala856Thr Single submitter ⚠
p.Arg136Gly Single submitter ⚠
p.Arg161Lys Single submitter ⚠
p.Arg28Ser Single submitter ⚠
p.Arg303Trp Single submitter ⚠
p.Arg307Lys Single submitter ⚠
p.Arg31His Single submitter ⚠
p.Arg32Cys Single submitter ⚠
p.Arg360Gly Single submitter ⚠
p.Arg514Ser Single submitter ⚠
p.Arg546Gln Single submitter ⚠
p.Arg546Trp Single submitter ⚠
p.Arg561Cys Single submitter ⚠
p.Arg583His Single submitter ⚠
p.Arg594Cys Single submitter ⚠
p.Arg594His Single submitter ⚠
p.Arg650Lys Single submitter ⚠
p.Arg782Gln Single submitter ⚠
p.Arg82Cys Single submitter ⚠
p.Arg82Pro Single submitter ⚠
p.Asn179Asp Single submitter ⚠
p.Asn376His Single submitter ⚠
p.Asn828Lys Single submitter ⚠
p.Asp254Glu Single submitter ⚠
p.Asp254His Single submitter ⚠
p.Asp323Asn Single submitter ⚠
p.Asp323Glu Single submitter ⚠
p.Asp395Tyr Single submitter ⚠
p.Asp450Asn Single submitter ⚠
p.Asp516Gly Single submitter ⚠
p.Asp623Asn Single submitter ⚠
p.Asp654His Single submitter
p.Asp796Tyr Single submitter ⚠
p.Cys65Trp Single submitter ⚠
p.Cys661Arg Single submitter ⚠
p.Gln244Lys Single submitter ⚠
p.Gln649Leu Single submitter ⚠
p.Gln685Pro Single submitter ⚠
p.Glu237Gly Single submitter ⚠
p.Glu238Lys Single submitter ⚠
p.Glu248Lys Single submitter ⚠
p.Glu268Asp Single submitter ⚠
p.Glu268Gly Single submitter ⚠
p.Glu285Lys Single submitter ⚠
p.Glu315Lys Single submitter ⚠
p.Glu496Lys Single submitter ⚠
p.Glu51Lys Single submitter ⚠
p.Glu523Gln Single submitter ⚠
p.Glu538Gln Single submitter ⚠
p.Glu737Gly Single submitter ⚠
p.Gly221Arg Single submitter ⚠
p.Gly236Arg Single submitter ⚠
p.Gly29Ala Single submitter ⚠
p.Gly29Glu Single submitter ⚠
p.Gly33Arg Single submitter ⚠
p.Gly33Cys Single submitter ⚠
p.Gly438Ser Single submitter
p.Gly586Asp Single submitter ⚠
p.Gly586Ser Single submitter ⚠
p.Gly64Cys Single submitter ⚠
p.Gly680Arg Single submitter ⚠
p.Gly69Arg Single submitter ⚠
p.Gly69Ser Single submitter ⚠
p.Gly77Glu Single submitter ⚠
p.His391Arg Single submitter ⚠
p.His422Arg Single submitter ⚠
p.Ile469Val Single submitter ⚠
p.Ile563Met Single submitter ⚠
p.Ile663Val Single submitter ⚠
p.Leu209Gln Single submitter ⚠
p.Leu246Phe Single submitter ⚠
p.Leu251Phe Single submitter ⚠
p.Leu482Phe Single submitter
p.Leu503Val Single submitter ⚠
p.Leu698Val Single submitter ⚠
p.Leu739Phe Single submitter ⚠
p.Leu760His Single submitter ⚠
p.Leu847Phe Single submitter ⚠
p.Leu92Pro Single submitter ⚠
p.Lys197Gln Single submitter ⚠
p.Lys329Glu Single submitter ⚠
p.Lys353Arg Single submitter ⚠
p.Lys43Arg Single submitter ⚠
p.Lys682Asn Single submitter ⚠
p.Lys682Gln Single submitter ⚠
p.Lys809Asn Single submitter ⚠
p.Lys850Arg Single submitter ⚠
p.Met389Ile Single submitter ⚠
p.Met560Thr Single submitter ⚠
p.Phe660Leu Single submitter ⚠
p.Phe820Tyr Single submitter ⚠
p.Pro104Arg Single submitter ⚠
p.Pro134Ala Single submitter ⚠
p.Pro138Leu Single submitter ⚠
p.Pro144Leu Single submitter ⚠
p.Pro146Gln Single submitter ⚠
p.Pro162Leu Single submitter ⚠
p.Pro208Ser Single submitter ⚠
p.Pro340Gln Single submitter
p.Pro341Leu Single submitter ⚠
p.Pro34Leu Single submitter ⚠
p.Pro564Ala Single submitter ⚠
p.Pro740Ala Single submitter ⚠
p.Ser139Thr Single submitter ⚠
p.Ser205Ile Single submitter ⚠
p.Ser206Phe Single submitter ⚠
p.Ser210Asn Single submitter ⚠
p.Ser234Ile Single submitter ⚠
p.Ser235Ile Single submitter ⚠
p.Ser253Gly Single submitter ⚠
p.Ser320Phe Single submitter ⚠
p.Ser330Gly Single submitter ⚠
p.Ser381Thr Single submitter ⚠
p.Ser412Leu Single submitter ⚠
p.Ser480Phe Single submitter ⚠
p.Ser599Arg Single submitter ⚠
p.Ser617Asn Single submitter ⚠
p.Ser625Gly Single submitter ⚠
p.Ser759Leu Single submitter ⚠
p.Ser786Gly Single submitter ⚠
p.Ser798Asn Single submitter ⚠
p.Thr160Asn Single submitter ⚠
p.Thr467Ala Single submitter ⚠
p.Thr606Met Single submitter ⚠
p.Thr628Met Single submitter ⚠
p.Thr742Met Single submitter ⚠
p.Thr849Met Single submitter ⚠
p.Tyr566Asn Single submitter
p.Val149Ile Single submitter ⚠
p.Val409Ile Single submitter ⚠
p.Val477Leu Single submitter ⚠
p.Val478Ala Single submitter ⚠
p.Val571Leu Single submitter ⚠
p.Val571Met Single submitter ⚠
p.Val635Leu Single submitter ⚠
p.Val638Ala Single submitter ⚠
p.Val638Asp Single submitter ⚠