RO60 — 105 ClinVar variants

All ClinVar germline RO60 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

1 Conflicting · 1 Benign · 3 Likely benign · 100 Uncertain significance

Full RO60 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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.

RO60 p.Arg344Cys Conflicting Single submitter

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 22

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

All RO60 variants

Conflicting classifications of pathogenicity 1

p.Arg344Cys Single submitter ⚠

Benign 1

p.Lys270= Multiple submitters

Likely benign 3

p.Asn391= Single submitter
p.Gln439= Single submitter
p.Ile481Val Single submitter

Uncertain significance 100

p.Ala153Val Single submitter ⚠
p.Ala165Ser Single submitter ⚠
p.Ala317Asp Single submitter
p.Ala327_Leu328del Single submitter
p.Ala461Thr Single submitter ⚠
p.Ala461Val Single submitter ⚠
p.Ala480Val Single submitter ⚠
p.Ala482Val Single submitter ⚠
p.Arg120His Single submitter ⚠
p.Arg237Cys Single submitter ⚠
p.Arg237His Single submitter ⚠
p.Arg237Leu Single submitter ⚠
p.Arg239Gly Single submitter ⚠
p.Arg318His Single submitter ⚠
p.Arg344His Single submitter ⚠
p.Arg370Cys Single submitter ⚠
p.Arg405Gln Single submitter ⚠
p.Arg405Leu Single submitter
p.Asn261His Single submitter ⚠
p.Asn284Ser Single submitter ⚠
p.Asn391Asp Single submitter ⚠
p.Asp104Asn Single submitter ⚠
p.Asp134Glu Single submitter ⚠
p.Asp29His Single submitter
p.Asp29Val Single submitter
p.Asp354Ala Single submitter ⚠
p.Asp491Gly Single submitter ⚠
p.Asp491His Single submitter ⚠
p.Asp512Val Single submitter ⚠
p.Gln432His Single submitter ⚠
p.Glu215Ala Single submitter ⚠
p.Glu215Gly Single submitter ⚠
p.Glu249Gly Single submitter ⚠
p.Glu2Asp Single submitter ⚠
p.Glu471Lys Single submitter ⚠
p.Glu59Gly Single submitter ⚠
p.Glu90Gln Single submitter ⚠
p.Gly142Cys Single submitter
p.Gly336Asp Single submitter ⚠
p.Gly521Ser Single submitter ⚠
p.His124Tyr Single submitter
p.His323Leu Single submitter ⚠
p.His478Arg Single submitter ⚠
p.Ile129Thr Single submitter ⚠
p.Ile197Val Single submitter ⚠
p.Ile440Ser Single submitter ⚠
p.Ile497Val Single submitter ⚠
p.Leu125Val Single submitter ⚠
p.Leu148Phe Single submitter ⚠
p.Leu166Val Single submitter ⚠
p.Leu188Ile Single submitter ⚠
p.Leu242Val Single submitter ⚠
p.Leu253Phe Single submitter ⚠
p.Leu272Met Single submitter ⚠
p.Leu294Phe Single submitter ⚠
p.Leu314Phe Single submitter ⚠
p.Leu373Ile Single submitter ⚠
p.Leu53Met Single submitter ⚠
p.Lys180Asn Single submitter ⚠
p.Lys200Arg Single submitter ⚠
p.Lys204Glu Single submitter ⚠
p.Lys307Glu Single submitter ⚠
p.Lys312Arg Single submitter ⚠
p.Lys49Thr Single submitter ⚠
p.Met399Ile Single submitter ⚠
p.Met419Thr Single submitter ⚠
p.Met428Arg Single submitter
p.Met428Thr Single submitter ⚠
p.Met435Ile Single submitter ⚠
p.Met8Ile Single submitter ⚠
p.Met92Thr Single submitter ⚠
p.Phe467Val Single submitter ⚠
p.Pro190Ala Single submitter ⚠
p.Pro190Ser Single submitter ⚠
p.Pro277Leu Single submitter ⚠
p.Pro423Leu Single submitter ⚠
p.Pro460Leu Single submitter ⚠
p.Ser191Ala Single submitter ⚠
p.Ser219Phe Single submitter ⚠
p.Ser302Pro Single submitter ⚠
p.Ser302Tyr Single submitter ⚠
p.Ser448Cys Single submitter ⚠
p.Thr199Asn Single submitter ⚠
p.Thr279Ser Single submitter ⚠
p.Thr367Ala Single submitter ⚠
p.Thr429Ile Single submitter ⚠
p.Thr45Ile Single submitter
p.Thr468Ile Single submitter ⚠
p.Thr502Ile Single submitter ⚠
p.Thr534Ile Single submitter ⚠
p.Tyr156Asn Single submitter ⚠
p.Tyr228Phe Single submitter ⚠
p.Tyr331Asp Single submitter ⚠
p.Tyr358Cys Single submitter ⚠
p.Val220Met Single submitter ⚠
p.Val377Asp Single submitter ⚠
p.Val402Ile Single submitter ⚠
p.Val420Leu Single submitter ⚠
p.Val463Ile Single submitter ⚠
p.Val498Leu Single submitter ⚠