ARSJ — 60 ClinVar variants
All ClinVar germline ARSJ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
1 Likely benign · 59 Uncertain significance
Full ARSJ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARSJ p.Ala107Thr Uncertain significance Single submitter
- ARSJ p.Ala7Glu Uncertain significance Single submitter
- ARSJ p.Arg283Gln Uncertain significance Single submitter
- ARSJ p.Arg283Leu Uncertain significance Single submitter
- ARSJ p.Arg511Lys Uncertain significance Single submitter
- ARSJ p.Arg545Gly Uncertain significance Single submitter
- ARSJ p.Asp327Gly Uncertain significance Single submitter
- ARSJ p.Cys218Gly Uncertain significance Single submitter
- ARSJ p.Cys218Phe Uncertain significance Single submitter
- ARSJ p.Gln240Glu Uncertain significance Single submitter
- ARSJ p.Glu280Gln Uncertain significance Single submitter
- ARSJ p.Glu280Lys Uncertain significance Single submitter
- ARSJ p.Gly335Glu Uncertain significance Single submitter
- ARSJ p.Gly437Arg Uncertain significance Single submitter
- ARSJ p.Gly599Val Uncertain significance Single submitter
- ARSJ p.Gly8Ala Uncertain significance Single submitter
- ARSJ p.Gly8Glu Uncertain significance Single submitter
- ARSJ p.His269Asp Uncertain significance Single submitter
- ARSJ p.His94Tyr Uncertain significance Single submitter
- ARSJ p.Ile285Val Uncertain significance Single submitter
- ARSJ p.Leu179Trp Uncertain significance Single submitter
- ARSJ p.Leu25Pro Uncertain significance Single submitter
- ARSJ p.Leu78Val Uncertain significance Single submitter
- ARSJ p.Lys428Asn Uncertain significance Single submitter
- ARSJ p.Phe279Leu Uncertain significance Single submitter
- ARSJ p.Pro536His Uncertain significance Single submitter
- ARSJ p.Ser325Phe Uncertain significance Single submitter
- ARSJ p.Ser594Leu Uncertain significance Single submitter
- ARSJ p.Ser69Arg Uncertain significance Single submitter
- ARSJ p.Thr333Met Uncertain significance Single submitter
- ARSJ p.Thr489Ala Uncertain significance Single submitter
- ARSJ p.Thr591Ala Uncertain significance Single submitter
- ARSJ p.Thr591Ser Uncertain significance Single submitter
- ARSJ p.Tyr220Cys Uncertain significance Single submitter
- ARSJ p.Tyr223His Uncertain significance Single submitter
- ARSJ p.Tyr242Cys Uncertain significance Single submitter
- ARSJ p.Val174Ile Uncertain significance Single submitter
- ARSJ p.Val587Leu Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ARSJ p.Ala295Ser Uncertain significance Single submitter
- ARSJ p.Ala444Pro Uncertain significance Single submitter
- ARSJ p.Arg479Pro Uncertain significance Single submitter
- ARSJ p.Arg511Trp Uncertain significance Single submitter
- ARSJ p.Asn442Lys Uncertain significance Single submitter
- ARSJ p.Gly549Arg Uncertain significance Single submitter
- ARSJ p.His172Asn Uncertain significance Single submitter
- ARSJ p.His453Arg Uncertain significance Single submitter
- ARSJ p.Ile385Thr Uncertain significance Single submitter
- ARSJ p.Ile407Val Uncertain significance Single submitter
- ARSJ p.Leu200Phe Uncertain significance Single submitter
- ARSJ p.Leu374Phe Uncertain significance Single submitter
- ARSJ p.Pro532Arg Uncertain significance Single submitter
- ARSJ p.Ser96Ala Uncertain significance Single submitter
- ARSJ p.Thr256Ile Uncertain significance Single submitter
- ARSJ p.Thr406Asn Uncertain significance Single submitter
- ARSJ p.Trp230Ser Uncertain significance Single submitter
- ARSJ p.Tyr116Cys Uncertain significance Single submitter
- ARSJ p.Tyr262Cys Uncertain significance Single submitter
- ARSJ p.Val111Ile Uncertain significance Single submitter
- ARSJ p.Val246Ile Uncertain significance Single submitter
All ARSJ variants
Likely benign 1
- p.Arg415Gln Single submitter
Uncertain significance 59
- p.Ala107Thr Single submitter ⚠
- p.Ala295Ser Single submitter ⚠
- p.Ala444Pro Single submitter ⚠
- p.Ala7Glu Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg283Leu Single submitter ⚠
- p.Arg479Pro Single submitter ⚠
- p.Arg511Lys Single submitter ⚠
- p.Arg511Trp Single submitter ⚠
- p.Arg545Gly Single submitter ⚠
- p.Asn442Lys Single submitter ⚠
- p.Asp327Gly Single submitter ⚠
- p.Cys218Gly Single submitter ⚠
- p.Cys218Phe Single submitter ⚠
- p.Gln240Glu Single submitter ⚠
- p.Glu280Gln Single submitter ⚠
- p.Glu280Lys Single submitter ⚠
- p.Gly335Glu Single submitter ⚠
- p.Gly437Arg Single submitter ⚠
- p.Gly549Arg Single submitter ⚠
- p.Gly599Val Single submitter ⚠
- p.Gly8Ala Single submitter ⚠
- p.Gly8Glu Single submitter ⚠
- p.His172Asn Single submitter ⚠
- p.His269Asp Single submitter ⚠
- p.His453Arg Single submitter ⚠
- p.His94Tyr Single submitter ⚠
- p.Ile285Val Single submitter ⚠
- p.Ile385Thr Single submitter ⚠
- p.Ile407Val Single submitter ⚠
- p.Leu179Trp Single submitter ⚠
- p.Leu200Phe Single submitter ⚠
- p.Leu25Pro Single submitter ⚠
- p.Leu374Phe Single submitter ⚠
- p.Leu78Val Single submitter ⚠
- p.Lys428Asn Single submitter ⚠
- p.Phe279Leu Single submitter ⚠
- p.Pro532Arg Single submitter ⚠
- p.Pro536His Single submitter ⚠
- p.Ser325Phe Single submitter ⚠
- p.Ser594Leu Single submitter ⚠
- p.Ser69Arg Single submitter ⚠
- p.Ser96Ala Single submitter ⚠
- p.Thr256Ile Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr406Asn Single submitter ⚠
- p.Thr489Ala Single submitter ⚠
- p.Thr591Ala Single submitter ⚠
- p.Thr591Ser Single submitter ⚠
- p.Trp230Ser Single submitter ⚠
- p.Tyr116Cys Single submitter ⚠
- p.Tyr220Cys Single submitter ⚠
- p.Tyr223His Single submitter ⚠
- p.Tyr242Cys Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Val111Ile Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val246Ile Single submitter ⚠
- p.Val587Leu Single submitter ⚠