OSR1 — 41 ClinVar variants
All ClinVar germline OSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Benign · 1 Benign/Likely benign · 4 Likely benign · 34 Uncertain significance
Full OSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OSR1 p.Ala149Asp Uncertain significance Single submitter
- OSR1 p.Ala61Thr Uncertain significance Single submitter
- OSR1 p.Glu258Gly Uncertain significance Single submitter
- OSR1 p.Gly2Ser Uncertain significance Single submitter
- OSR1 p.Gly43Ser Uncertain significance Single submitter
- OSR1 p.His13Tyr Uncertain significance Single submitter
- OSR1 p.Ile96Leu Uncertain significance Single submitter
- OSR1 p.Leu190Arg Uncertain significance Single submitter
- OSR1 p.Leu38Val Uncertain significance Single submitter
- OSR1 p.Pro34Leu Uncertain significance Single submitter
- OSR1 p.Pro60Gln Uncertain significance Single submitter
- OSR1 p.Ser107Arg Uncertain significance Single submitter
- OSR1 p.Ser142Phe Uncertain significance Single submitter
- OSR1 p.Thr32Ala Uncertain significance Single submitter
- OSR1 p.Thr56Met Uncertain significance Single submitter
- OSR1 p.Thr75Met Uncertain significance Single submitter
- OSR1 p.Val10Ala Uncertain significance Single submitter
- OSR1 p.Val153Met Uncertain significance Single submitter
- OSR1 p.Val176Ile Uncertain significance Single submitter
- OSR1 p.Val256Leu Uncertain significance Single submitter
- OSR1 p.Val33Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- OSR1 p.Ala88Asp Uncertain significance Single submitter
- OSR1 p.Arg166His Uncertain significance Single submitter
- OSR1 p.Asn20Lys Uncertain significance Single submitter
- OSR1 p.Gln25His Uncertain significance Single submitter
- OSR1 p.Gln25Pro Uncertain significance Single submitter
- OSR1 p.Gly181Val Uncertain significance Single submitter
- OSR1 p.Gly29Asp Uncertain significance Single submitter
- OSR1 p.Phe69Leu Uncertain significance Single submitter
- OSR1 p.Pro65Leu Uncertain significance Single submitter
- OSR1 p.Pro87Ser Uncertain significance Single submitter
- OSR1 p.Pro93Leu Uncertain significance Single submitter
- OSR1 p.Ser70Phe Uncertain significance Single submitter
All OSR1 variants
Benign 2
- p.Leu218= Multiple submitters
- c.666-218A>G Single submitter
Benign/Likely benign 1
- p.Pro115= Multiple submitters
Likely benign 4
- p.Gly139= Multiple submitters
- c.666-6C>T Single submitter
- p.Asp152= Single submitter
- p.Pro143= Single submitter
Uncertain significance 34
- p.Ala149Asp Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala88Asp Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Asn20Lys Single submitter ⚠
- p.Gln25His Single submitter ⚠
- p.Gln25Pro Single submitter ⚠
- p.Glu258Gly Single submitter ⚠
- p.Gly181Val Single submitter ⚠
- p.Gly29Asp Single submitter ⚠
- p.Gly2Ser Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.His13Tyr Single submitter ⚠
- p.Ile96Leu Single submitter ⚠
- p.Leu190Arg Single submitter ⚠
- p.Leu38Val Single submitter ⚠
- p.Phe69Leu Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro60Gln Single submitter ⚠
- p.Pro65Leu Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Pro93Leu Single submitter ⚠
- p.Ser107Arg Single submitter ⚠
- p.Ser142Phe Single submitter ⚠
- p.Ser70Phe Single submitter ⚠
- p.Thr251Met Single submitter
- p.Thr32Ala Single submitter ⚠
- p.Thr56Met Single submitter ⚠
- p.Thr75Met Single submitter ⚠
- p.Val10Ala Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val176Ile Single submitter ⚠
- p.Val256Leu Single submitter ⚠
- p.Val33Met Single submitter ⚠