CIROP — 21 ClinVar variants
All ClinVar germline CIROP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
6 Pathogenic · 4 Likely pathogenic · 2 Conflicting · 6 Likely benign · 3 Uncertain significance
Full CIROP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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.
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CIROP p.Ser31Phe
Conflicting
Single submitter
heterotaxy, visceral, 12, autosomal
Predictors lean, ClinVar uncertain 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CIROP p.Gly180Arg
Uncertain significance
Single submitter
heterotaxy, visceral, 12, autosomal
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CIROP p.Tyr68Cys
Uncertain significance
Single submitter
heterotaxy, visceral, 12, autosomal
Predictors split 2
The independent predictors disagree with each other — read with care.
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CIROP p.Glu376Lys
Likely pathogenic
Single submitter
trichothiodystrophy 1, photosensitive
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CIROP p.Ser384Leu
Pathogenic
No assertion criteria
heterotaxy, visceral, 12, autosomal
All CIROP variants
Pathogenic 6
- c.988+1G>C Single submitter trichothiodystrophy 1, photosensitive
- p.Arg191Ter No assertion criteria heterotaxy, visceral, 12, autosomal
- p.Arg389Ile No assertion criteria heterotaxy, visceral, 12, autosomal
- p.Phe456del No assertion criteria heterotaxy, visceral, 12, autosomal
- p.Ser384Leu No assertion criteria heterotaxy, visceral, 12, autosomal ⚠
- p.Trp346Ter No assertion criteria heterotaxy, visceral, 12, autosomal
Likely pathogenic 4
- p.Arg101fs Single submitter heterotaxy, visceral, 12, autosomal
- p.Gln528Ter Single submitter heterotaxy, visceral, 12, autosomal
- p.Glu376Lys Single submitter trichothiodystrophy 1, photosensitive ⚠
- p.Leu444fs Single submitter heterotaxy, visceral, 12, autosomal
Conflicting classifications of pathogenicity 2
- p.Arg22Ter Single submitter heterotaxy, visceral, 12, autosomal
- p.Ser31Phe Single submitter heterotaxy, visceral, 12, autosomal ⚠
Likely benign 6
- p.Gly70Glu Single submitter
- p.Ile411= Single submitter
- p.Ile746= Single submitter
- p.Pro13_Leu14insPro Single submitter
- p.Ser427= Single submitter
- p.His664Gln No assertion criteria CIROP-related disorder
Uncertain significance 3
- c.2159+2T>A Single submitter trichothiodystrophy 1, photosensitive
- p.Gly180Arg Single submitter heterotaxy, visceral, 12, autosomal ⚠
- p.Tyr68Cys Single submitter heterotaxy, visceral, 12, autosomal ⚠