AGXT2 — 80 ClinVar variants

All ClinVar germline AGXT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

4 Benign · 1 Benign/Likely benign · 4 Likely benign · 71 Uncertain significance

Full AGXT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 31

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

Predictors split 40

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

All AGXT2 variants

Benign 4

p.Arg133Cys Multiple submitters ⚠
p.Arg242Gln Multiple submitters
p.Tyr203= Multiple submitters
p.Arg133His Single submitter

Benign/Likely benign 1

c.1188+1G>A Multiple submitters

Likely benign 4

c.1339-8A>G Single submitter
p.His377= Single submitter
p.Leu96= Single submitter
p.Val116= Single submitter

Uncertain significance 71

p.Ala183Val Single submitter ⚠
p.Ala306Gly Single submitter ⚠
p.Ala359Thr Single submitter ⚠
p.Ala360Val Single submitter ⚠
p.Ala484Val Single submitter ⚠
p.Ala99Thr Single submitter ⚠
p.Arg194Gly Single submitter ⚠
p.Arg233Cys Single submitter ⚠
p.Arg311Gln Single submitter ⚠
p.Arg34Gln Single submitter ⚠
p.Arg34Leu Single submitter ⚠
p.Arg502Cys Single submitter ⚠
p.Arg502Leu Single submitter ⚠
p.Asn293Asp Single submitter ⚠
p.Asn458Lys Single submitter ⚠
p.Asp189Asn Single submitter ⚠
p.Asp189His Single submitter ⚠
p.Asp445Asn Single submitter ⚠
p.Cys228Tyr Single submitter ⚠
p.Cys259Phe Single submitter ⚠
p.Cys388Tyr Single submitter ⚠
p.Gln264Arg Single submitter ⚠
p.Glu100Asp Single submitter ⚠
p.Glu148Gln Single submitter ⚠
p.Glu159Lys Single submitter ⚠
p.Glu287Lys Single submitter ⚠
p.Glu424Val Single submitter ⚠
p.Gly206Ser Single submitter ⚠
p.Gly301Arg Single submitter ⚠
p.Gly327Val Single submitter ⚠
p.Gly472Asp Single submitter ⚠
p.His377Pro Single submitter ⚠
p.His92Leu Single submitter ⚠
p.Ile398Thr Single submitter ⚠
p.Ile440Thr Single submitter ⚠
p.Leu153Val Single submitter ⚠
p.Leu421Val Single submitter ⚠
p.Leu452Pro Single submitter ⚠
p.Leu74Ile Single submitter ⚠
p.Lys369Arg Single submitter ⚠
p.Lys71Met Single submitter ⚠
p.Met24Ile Single submitter ⚠
p.Met348Ile Single submitter ⚠
p.Met358Thr Single submitter ⚠
p.Pro11Arg Single submitter ⚠
p.Pro160Ser Single submitter ⚠
p.Pro343Ser Single submitter ⚠
p.Pro46Leu Single submitter ⚠
p.Pro76Ser Single submitter ⚠
p.Ser486Leu Single submitter ⚠
p.Ser75Pro Single submitter ⚠
p.Thr208Ile Single submitter ⚠
p.Thr221Ala Single submitter ⚠
p.Thr272Arg Single submitter ⚠
p.Thr272fs Single submitter beta-aminoisobutyric acid, urinary excretion of
p.Thr275Ile Single submitter ⚠
p.Thr338Asn Single submitter ⚠
p.Thr44Arg Single submitter ⚠
p.Trp334Arg Single submitter ⚠
p.Trp334Cys Single submitter ⚠
p.Tyr197His Single submitter ⚠
p.Tyr265Cys Single submitter ⚠
p.Val123Glu Single submitter ⚠
p.Val231Ile Single submitter ⚠
p.Val246Leu Single submitter ⚠
p.Val310Ala Single submitter ⚠
p.Val428Ala Single submitter ⚠
p.Val428Phe Single submitter ⚠
p.Val431Ile Single submitter ⚠
p.Val471Ala Single submitter ⚠
p.Val471Phe Single submitter ⚠