UHRF1 — 63 ClinVar variants

All ClinVar germline UHRF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

2 Conflicting · 4 Likely benign · 57 Uncertain significance

Full UHRF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

UHRF1 p.Met294Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 50

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

Predictors split 7

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

All UHRF1 variants

Conflicting classifications of pathogenicity 2

c.-10-23G>T Single submitter
p.Met294Thr Single submitter ⚠

Likely benign 4

c.-10-11C>T Single submitter
p.Arg166Gln Single submitter
p.Gly262= Single submitter
p.Val182Ile Single submitter

Uncertain significance 57

p.Ala113Val Single submitter ⚠
p.Ala252Val Single submitter ⚠
p.Ala384Thr Single submitter ⚠
p.Ala384Val Single submitter ⚠
p.Ala550Thr Single submitter ⚠
p.Arg161Gln Single submitter ⚠
p.Arg161Trp Single submitter ⚠
p.Arg282Trp Single submitter ⚠
p.Arg30Gly Single submitter ⚠
p.Arg314Trp Single submitter ⚠
p.Arg376Trp Single submitter ⚠
p.Asn138Ser Single submitter ⚠
p.Asn258Ser Single submitter ⚠
p.Asn783Asp Single submitter ⚠
p.Asp181Glu Single submitter ⚠
p.Asp189Asn Single submitter ⚠
p.Asp189Gly Single submitter ⚠
p.Asp268Asn Single submitter ⚠
p.Asp585His Single submitter ⚠
p.Asp87Glu Single submitter ⚠
p.Gln12His Single submitter ⚠
p.Glu168Asp Single submitter ⚠
p.Glu168Gly Single submitter ⚠
p.Glu34Gln Single submitter ⚠
p.Gly111Ser Single submitter ⚠
p.Gly55Arg Single submitter ⚠
p.Gly572Arg Single submitter ⚠
p.His14Tyr Single submitter ⚠
p.His445Leu Single submitter ⚠
p.His81Asn Single submitter ⚠
p.Ile212Phe Single submitter ⚠
p.Leu345Met Single submitter ⚠
p.Leu71Phe Single submitter ⚠
p.Lys383Arg Single submitter ⚠
p.Met126Val Single submitter ⚠
p.Met199Val Single submitter ⚠
p.Met386Leu Single submitter ⚠
p.Pro283Leu Single submitter ⚠
p.Pro293Thr Single submitter ⚠
p.Pro361Ser Single submitter ⚠
p.Pro532Leu Single submitter ⚠
p.Pro787Leu Single submitter ⚠
p.Pro80Ser Single submitter ⚠
p.Ser287Thr Single submitter ⚠
p.Ser380Arg Single submitter ⚠
p.Thr130Met Single submitter ⚠
p.Thr160Ala Single submitter ⚠
p.Thr173Met Single submitter ⚠
p.Thr249Ser Single submitter ⚠
p.Thr251Met Single submitter ⚠
p.Thr780Ile Single submitter ⚠
p.Trp127Ser Single submitter ⚠
p.Val204Ile Single submitter ⚠
p.Val219Met Single submitter ⚠
p.Val309Met Single submitter ⚠
p.Val315Asp Single submitter ⚠
p.Val78Met Single submitter ⚠