ARSF — 95 ClinVar variants
All ClinVar germline ARSF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
4 Benign · 15 Likely benign · 76 Uncertain significance
Full ARSF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARSF p.Ala112Ser Uncertain significance Single submitter
- ARSF p.Ala411Pro Uncertain significance Single submitter
- ARSF p.Ala84Pro Uncertain significance Single submitter
- ARSF p.Arg179His Uncertain significance Single submitter
- ARSF p.Arg249Leu Uncertain significance Single submitter
- ARSF p.Arg262Gln Uncertain significance Single submitter
- ARSF p.Arg457Trp Uncertain significance Single submitter
- ARSF p.Arg93Gln Uncertain significance Single submitter
- ARSF p.Asn436His Uncertain significance Single submitter
- ARSF p.Asp149Tyr Uncertain significance Single submitter
- ARSF p.Asp27Glu Uncertain significance Single submitter
- ARSF p.Asp508Asn Uncertain significance Single submitter
- ARSF p.Asp59His Uncertain significance Single submitter
- ARSF p.Cys20Gly Uncertain significance Single submitter
- ARSF p.Glu276Gly Uncertain significance Single submitter
- ARSF p.Gly133Arg Uncertain significance Single submitter
-
ARSF p.Gly136Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
- ARSF p.Gly323Asp Uncertain significance Single submitter
- ARSF p.Gly373Glu Uncertain significance Single submitter
- ARSF p.Gly426Asp Uncertain significance Single submitter
- ARSF p.Gly483Asp Uncertain significance Single submitter
- ARSF p.His356Tyr Uncertain significance Single submitter
- ARSF p.Ile223Thr Uncertain significance Single submitter
- ARSF p.Ile42Val Uncertain significance Single submitter
- ARSF p.Leu203Pro Uncertain significance Single submitter
- ARSF p.Leu359Val Uncertain significance Single submitter
- ARSF p.Leu490Ile Uncertain significance Single submitter
- ARSF p.Phe225Leu Uncertain significance Single submitter
- ARSF p.Phe283Leu Uncertain significance Single submitter
- ARSF p.Pro111Thr Uncertain significance Single submitter
- ARSF p.Pro175Leu Uncertain significance Single submitter
- ARSF p.Pro295Thr Uncertain significance Single submitter
- ARSF p.Pro475Leu Uncertain significance Single submitter
- ARSF p.Pro586Leu Uncertain significance Single submitter
- ARSF p.Pro91Thr Uncertain significance Single submitter
- ARSF p.Ser402Asn Uncertain significance Single submitter
- ARSF p.Ser73Pro Uncertain significance Single submitter
- ARSF p.Ser79Ile Uncertain significance Single submitter
- ARSF p.Thr298Ile Uncertain significance Single submitter
- ARSF p.Thr474Ile Uncertain significance Single submitter
- ARSF p.Trp458Ser Uncertain significance Single submitter
- ARSF p.Tyr500His Uncertain significance Single submitter
- ARSF p.Val568Leu Uncertain significance Single submitter
-
ARSF p.Gly113Ala
Uncertain significance
No assertion criteria
ARSF-related disorder
Predictors split 32
The independent predictors disagree with each other — read with care.
- ARSF p.Ala411Thr Uncertain significance Single submitter
- ARSF p.Arg103Cys Uncertain significance Single submitter
- ARSF p.Arg249Trp Uncertain significance Single submitter
- ARSF p.Arg262Gly Uncertain significance Single submitter
- ARSF p.Arg380Cys Uncertain significance Single submitter
- ARSF p.Arg380His Uncertain significance Single submitter
- ARSF p.Arg427Gln Uncertain significance Single submitter
- ARSF p.Arg60Cys Uncertain significance Single submitter
- ARSF p.Asn117Ser Uncertain significance Single submitter
- ARSF p.Asn502His Uncertain significance Single submitter
- ARSF p.Asn502Lys Uncertain significance Single submitter
- ARSF p.Asp160Asn Uncertain significance Single submitter
- ARSF p.Glu64Gly Uncertain significance Single submitter
- ARSF p.Gly426Ser Uncertain significance Single submitter
- ARSF p.Gly49Ser Uncertain significance Single submitter
- ARSF p.Ile135Thr Uncertain significance Single submitter
- ARSF p.Ile272Asn Uncertain significance Single submitter
- ARSF p.Ile424Thr Uncertain significance Single submitter
- ARSF p.Leu114Phe Uncertain significance Single submitter
- ARSF p.Leu195Pro Uncertain significance Single submitter
- ARSF p.Leu208Pro Uncertain significance Single submitter
- ARSF p.Met372Thr Uncertain significance Single submitter
- ARSF p.Pro115Arg Uncertain significance Single submitter
- ARSF p.Pro388Arg Uncertain significance Single submitter
- ARSF p.Pro503Arg Uncertain significance Single submitter
- ARSF p.Pro503Ser Uncertain significance Single submitter
- ARSF p.Thr120Ala Uncertain significance Single submitter
- ARSF p.Thr299Met Uncertain significance Single submitter
- ARSF p.Thr401Ile Uncertain significance Single submitter
- ARSF p.Tyr452Cys Uncertain significance Single submitter
- ARSF p.Val292Met Uncertain significance Single submitter
-
ARSF p.Arg179Cys
Likely benign
No assertion criteria
ARSF-related disorder
All ARSF variants
Benign 4
- p.Pro6= Multiple submitters
- p.Gly585_Ter591= Single submitter
- p.Arg335Lys No assertion criteria ARSF-related disorder
- p.Gly230Asp No assertion criteria ARSF-related disorder
Likely benign 15
- c.1102+5G>A Multiple submitters
- c.161+7C>T Single submitter
- p.Ala122fs Single submitter
- p.Asn436= Single submitter
- p.Gln542Arg Single submitter
- p.Gly347= Single submitter
- p.Ile200= Single submitter
- p.Leu284= Single submitter
- p.Lys563= Single submitter
- p.Thr254Met Single submitter
- p.Thr303Ile Single submitter
- p.Ala481= No assertion criteria ARSF-related disorder
- p.Arg179Cys No assertion criteria ARSF-related disorder ⚠
- p.Ser239Tyr No assertion criteria ARSF-related disorder
- p.Thr55= No assertion criteria ARSF-related disorder
Uncertain significance 76
- p.Ala112Ser Single submitter ⚠
- p.Ala411Pro Single submitter ⚠
- p.Ala411Thr Single submitter ⚠
- p.Ala84Pro Single submitter ⚠
- p.Arg103Cys Single submitter ⚠
- p.Arg179His Single submitter ⚠
- p.Arg249Leu Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg262Gln Single submitter ⚠
- p.Arg262Gly Single submitter ⚠
- p.Arg380Cys Single submitter ⚠
- p.Arg380His Single submitter ⚠
- p.Arg427Gln Single submitter ⚠
- p.Arg457Trp Single submitter ⚠
- p.Arg60Cys Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn436His Single submitter ⚠
- p.Asn502His Single submitter ⚠
- p.Asn502Lys Single submitter ⚠
- p.Asp149Tyr Single submitter ⚠
- p.Asp160Asn Single submitter ⚠
- p.Asp27Glu Single submitter ⚠
- p.Asp508Asn Single submitter ⚠
- p.Asp59His Single submitter ⚠
- p.Cys20Gly Single submitter ⚠
- p.Glu276Gly Single submitter ⚠
- p.Glu64Gly Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly136Arg Single submitter neurodevelopmental disorder ⚠
- p.Gly323Asp Single submitter ⚠
- p.Gly373Glu Single submitter ⚠
- p.Gly426Asp Single submitter ⚠
- p.Gly426Ser Single submitter ⚠
- p.Gly483Asp Single submitter ⚠
- p.Gly49Ser Single submitter ⚠
- p.His356Tyr Single submitter ⚠
- p.Ile135Thr Single submitter ⚠
- p.Ile223Thr Single submitter ⚠
- p.Ile272Asn Single submitter ⚠
- p.Ile424Thr Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Leu114Phe Single submitter ⚠
- p.Leu195Pro Single submitter ⚠
- p.Leu203Pro Single submitter ⚠
- p.Leu208Pro Single submitter ⚠
- p.Leu359Val Single submitter ⚠
- p.Leu490Ile Single submitter ⚠
- p.Met372Thr Single submitter ⚠
- p.Phe225Leu Single submitter ⚠
- p.Phe283Leu Single submitter ⚠
- p.Pro111Thr Single submitter ⚠
- p.Pro115Arg Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro295Thr Single submitter ⚠
- p.Pro388Arg Single submitter ⚠
- p.Pro475Leu Single submitter ⚠
- p.Pro503Arg Single submitter ⚠
- p.Pro503Ser Single submitter ⚠
- p.Pro586Leu Single submitter ⚠
- p.Pro91Thr Single submitter ⚠
- p.Ser402Asn Single submitter ⚠
- p.Ser73Pro Single submitter ⚠
- p.Ser79Ile Single submitter ⚠
- p.Thr120Ala Single submitter ⚠
- p.Thr298Ile Single submitter ⚠
- p.Thr299Met Single submitter ⚠
- p.Thr401Ile Single submitter ⚠
- p.Thr474Ile Single submitter ⚠
- p.Trp458Ser Single submitter ⚠
- p.Tyr452Cys Single submitter ⚠
- p.Tyr500His Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val568Leu Single submitter ⚠
- c.12-10T>G No assertion criteria ARSF-related disorder
- p.Gly113Ala No assertion criteria ARSF-related disorder ⚠