NCOA4 — 78 ClinVar variants

All ClinVar germline NCOA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

5 Benign · 1 Benign/Likely benign · 7 Likely benign · 65 Uncertain significance

Full NCOA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 48

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 NCOA4 variants

Benign 5

p.Ala483Thr Multiple submitters
p.Asn248Ser Multiple submitters
p.Gly441Glu Multiple submitters ⚠
p.Pro508= Multiple submitters
p.Ser495Leu Multiple submitters

Benign/Likely benign 1

p.Thr229Ile Multiple submitters

Likely benign 7

p.Ala375Thr Single submitter
p.Arg322Cys Single submitter
p.Glu420= Single submitter
p.Gly513Ser Single submitter
p.His578Arg Single submitter
p.Ser241Pro Single submitter
p.Tyr428Cys Single submitter

Uncertain significance 65

c.1839+200C>T Single submitter
c.1839+208A>G Single submitter
c.1839+209A>G Single submitter
c.1839+232G>A Single submitter
c.1839+243T>G Single submitter
c.1839+253T>C Single submitter
p.Ala211Val Single submitter ⚠
p.Ala89Val Single submitter ⚠
p.Arg315Trp Single submitter ⚠
p.Arg609Gln Single submitter ⚠
p.Asn100Ser Single submitter ⚠
p.Asn13Lys Single submitter ⚠
p.Asn236Lys Single submitter ⚠
p.Asn349His Single submitter ⚠
p.Asn349Ser Single submitter ⚠
p.Asn407Lys Single submitter ⚠
p.Asn407Ser Single submitter ⚠
p.Asp295His Single submitter ⚠
p.Asp297Asn Single submitter ⚠
p.Cys350Ser Single submitter ⚠
p.Cys398Arg Single submitter ⚠
p.Cys416Tyr Single submitter ⚠
p.Cys591Ser Single submitter ⚠
p.Gln296Arg Single submitter ⚠
p.Gln470Arg Single submitter ⚠
p.Glu298Asp Single submitter ⚠
p.Glu323Ala Single submitter ⚠
p.Glu420Lys Single submitter ⚠
p.Glu61Ala Single submitter ⚠
p.Gly195Arg Single submitter ⚠
p.Gly251Arg Single submitter ⚠
p.Gly357Ser Single submitter ⚠
p.Gly436Val Single submitter
p.Ile185Ser Single submitter ⚠
p.Ile56Met Single submitter
p.Leu138Val Single submitter ⚠
p.Leu363Val Single submitter
p.Leu80Pro Single submitter ⚠
p.Lys263Arg Single submitter ⚠
p.Lys287Arg Single submitter ⚠
p.Lys424Glu Single submitter ⚠
p.Lys437Thr Single submitter
p.Lys509Glu Single submitter ⚠
p.Lys545Asn Single submitter ⚠
p.Phe580Leu Single submitter ⚠
p.Phe580Val Single submitter ⚠
p.Pro409His Single submitter ⚠
p.Pro448Arg Single submitter ⚠
p.Ser119Cys Single submitter ⚠
p.Ser12Gly Single submitter ⚠
p.Ser274Gly Single submitter ⚠
p.Ser279Asn Single submitter ⚠
p.Ser480Phe Single submitter ⚠
p.Ser533Tyr Single submitter ⚠
p.Ser94Leu Single submitter ⚠
p.Thr222Ile Single submitter ⚠
p.Thr278Ile Single submitter ⚠
p.Thr411Ala Single submitter ⚠
p.Thr529Asn Single submitter ⚠
p.Tyr335Cys Single submitter ⚠
p.Tyr608Cys Single submitter ⚠
p.Tyr608His Single submitter
p.Val337Met Single submitter ⚠
p.Val358Met Single submitter ⚠
p.Val590Ile Single submitter ⚠