PYROXD2 — 116 ClinVar variants

All ClinVar germline PYROXD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

6 Likely benign · 110 Uncertain significance

Full PYROXD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 98

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 69

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

Predictors split 29

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

All PYROXD2 variants

Likely benign 6

p.Ala179Val Single submitter
p.Ala470Val Single submitter
p.Arg218Gln Single submitter
p.Arg371Gln Single submitter
p.Ser372= Single submitter
p.Val454Ile Single submitter

Uncertain significance 110

c.1062+2T>G Single submitter Leigh syndrome
p.Ala14Thr Single submitter ⚠
p.Ala172Asp Single submitter ⚠
p.Ala19Val Single submitter ⚠
p.Ala245Val Single submitter Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 related mitochanodrial defect
p.Ala248Val Single submitter ⚠
p.Ala293Val Single submitter ⚠
p.Ala303Ser Single submitter ⚠
p.Ala312Val Single submitter ⚠
p.Ala37Val Single submitter ⚠
p.Ala389Val Single submitter ⚠
p.Ala390Val Single submitter ⚠
p.Ala42Pro Single submitter ⚠
p.Ala42Ser Single submitter ⚠
p.Ala524Thr Single submitter ⚠
p.Ala61Thr Single submitter ⚠
p.Arg133Gly Single submitter ⚠
p.Arg22Gln Single submitter ⚠
p.Arg371Trp Single submitter ⚠
p.Arg476Thr Single submitter ⚠
p.Arg543Cys Single submitter ⚠
p.Arg576Gly Single submitter ⚠
p.Arg95Trp Single submitter ⚠
p.Asn115Ser Single submitter ⚠
p.Asn341Ser Single submitter ⚠
p.Asn378Ser Single submitter ⚠
p.Asn392Ser Single submitter ⚠
p.Asp412Asn Single submitter ⚠
p.Asp481Ala Single submitter ⚠
p.Asp496His Single submitter ⚠
p.Asp496Val Single submitter ⚠
p.Asp502Gly Single submitter ⚠
p.Asp577Tyr Single submitter
p.Gln147Pro Single submitter ⚠
p.Gln157Glu Single submitter ⚠
p.Gln277Pro Single submitter ⚠
p.Gln54Pro Single submitter ⚠
p.Gln97Pro Single submitter ⚠
p.Glu238Asp Single submitter ⚠
p.Glu308Ala Single submitter ⚠
p.Glu475Asp Single submitter ⚠
p.Glu488Lys Single submitter
p.Glu64Lys Single submitter ⚠
p.Glu76Lys Single submitter ⚠
p.Glu77Lys Single submitter ⚠
p.Gly126Asp Single submitter ⚠
p.Gly272Ser Single submitter ⚠
p.Gly275Glu Single submitter ⚠
p.Gly275Val Single submitter
p.Gly281Ala Single submitter ⚠
p.Gly286Asp Single submitter ⚠
p.Gly30Cys Single submitter ⚠
p.Gly46Arg Single submitter ⚠
p.Gly493Ser Single submitter ⚠
p.Gly500Asp Single submitter ⚠
p.Gly500Val Single submitter ⚠
p.Gly561Cys Single submitter ⚠
p.Gly5Ala Single submitter ⚠
p.Gly71Asp Single submitter ⚠
p.Gly71Val Single submitter ⚠
p.His107Arg Single submitter ⚠
p.His167Tyr Single submitter ⚠
p.His268Arg Single submitter ⚠
p.His268Tyr Single submitter ⚠
p.His402Arg Single submitter ⚠
p.His417Pro Single submitter ⚠
p.His417Tyr Single submitter ⚠
p.His539Arg Single submitter ⚠
p.Ile211Val Single submitter ⚠
p.Ile227Met Single submitter ⚠
p.Leu199Pro Single submitter
p.Leu223Phe Single submitter ⚠
p.Leu240Phe Single submitter ⚠
p.Leu427Val Single submitter ⚠
p.Leu504Phe Single submitter ⚠
p.Leu551Ile Single submitter ⚠
p.Lys309Arg Single submitter ⚠
p.Met525Ile Single submitter ⚠
p.Met525Thr Single submitter ⚠
p.Met563Ile Single submitter ⚠
p.Pro121Ala Single submitter
p.Pro239Leu Single submitter ⚠
p.Pro256Leu Single submitter ⚠
p.Pro344Leu Single submitter
p.Pro385Ser Single submitter ⚠
p.Pro394Ser Single submitter ⚠
p.Pro432Arg Single submitter ⚠
p.Pro444Arg Single submitter ⚠
p.Pro444Ser Single submitter ⚠
p.Pro462Ala Single submitter
p.Pro516Leu Single submitter ⚠
p.Pro558Leu Single submitter ⚠
p.Ser261Ile Single submitter ⚠
p.Ser304Ile Single submitter ⚠
p.Ser386Arg Single submitter ⚠
p.Thr100Ser Single submitter ⚠
p.Thr120Ile Single submitter ⚠
p.Thr120Ser Single submitter ⚠
p.Thr352Met Single submitter ⚠
p.Thr458Ile Single submitter
p.Thr464Met Single submitter ⚠
p.Trp280Arg Single submitter ⚠
p.Tyr490Cys Single submitter
p.Val222Ile Single submitter ⚠
p.Val322Leu Single submitter ⚠
p.Val333Ala Single submitter ⚠
p.Val333Met Single submitter ⚠
p.Val38Met Single submitter
p.Val483Ala Single submitter ⚠
p.Val536Ala Single submitter ⚠