ARSD — 101 ClinVar variants
All ClinVar germline ARSD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
4 Benign · 22 Likely benign · 75 Uncertain significance
Full ARSD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARSD p.Ala109Thr Uncertain significance Single submitter
- ARSD p.Ala194Val Uncertain significance Single submitter
- ARSD p.Ala198Val Uncertain significance Single submitter
- ARSD p.Ala492Thr Uncertain significance Single submitter
- ARSD p.Ala539Asp Uncertain significance Single submitter
- ARSD p.Ala539Thr Uncertain significance Single submitter
- ARSD p.Ala84Val Uncertain significance Single submitter
- ARSD p.Arg158His Uncertain significance Single submitter
- ARSD p.Arg158Pro Uncertain significance Single submitter
- ARSD p.Arg498Gln Uncertain significance Single submitter
- ARSD p.Asn128Ile Uncertain significance Single submitter
- ARSD p.Asn182His Uncertain significance Single submitter
- ARSD p.Asp342Ala Uncertain significance Single submitter
- ARSD p.Cys220Trp Uncertain significance Single submitter
- ARSD p.Gln117Glu Uncertain significance Single submitter
- ARSD p.Glu287Gly Uncertain significance Single submitter
- ARSD p.Glu490Lys Uncertain significance Single submitter
- ARSD p.Gly292Glu Uncertain significance Single submitter
- ARSD p.Gly394Arg Uncertain significance Single submitter
- ARSD p.His291Arg Uncertain significance Single submitter
- ARSD p.His579Tyr Uncertain significance Single submitter
- ARSD p.Ile305Thr Uncertain significance Single submitter
- ARSD p.Leu258Pro Uncertain significance Single submitter
- ARSD p.Lys148Gln Uncertain significance Single submitter
- ARSD p.Pro190Ser Uncertain significance Single submitter
- ARSD p.Pro306Arg Uncertain significance Single submitter
- ARSD p.Pro571Ser Uncertain significance Single submitter
- ARSD p.Ser3Pro Uncertain significance Single submitter
- ARSD p.Thr98Lys Uncertain significance Single submitter
- ARSD p.Trp478Arg Uncertain significance Single submitter
- ARSD p.Val264Ile Uncertain significance Single submitter
- ARSD p.Val270Ile Uncertain significance Single submitter
- ARSD p.Val441Leu Uncertain significance Single submitter
- ARSD p.Val477Ile Uncertain significance Single submitter
Predictors split 47
The independent predictors disagree with each other — read with care.
- ARSD p.Ser224Cys Benign Multiple submitters
- ARSD p.Ala14Thr Uncertain significance Single submitter
- ARSD p.Ala215Pro Uncertain significance Single submitter
- ARSD p.Ala275Glu Uncertain significance Single submitter
- ARSD p.Ala312Val Uncertain significance Single submitter
- ARSD p.Ala466Thr Uncertain significance Single submitter
- ARSD p.Ala48Thr Uncertain significance Single submitter
- ARSD p.Ala48Val Uncertain significance Single submitter
- ARSD p.Ala73Thr Uncertain significance Single submitter
- ARSD p.Arg158Cys Uncertain significance Single submitter
- ARSD p.Arg364Gly Uncertain significance Single submitter
- ARSD p.Arg406Gln Uncertain significance Single submitter
- ARSD p.Arg9His Uncertain significance Single submitter
- ARSD p.Asp473His Uncertain significance Single submitter
- ARSD p.Asp70Asn Uncertain significance Single submitter
- ARSD p.Gln205His Uncertain significance Single submitter
- ARSD p.Gln553His Likely benign Single submitter
- ARSD p.Gly202Val Uncertain significance Single submitter
- ARSD p.Gly505Arg Uncertain significance Single submitter
- ARSD p.Gly60Arg Uncertain significance Single submitter
- ARSD p.His302Asp Uncertain significance Single submitter
- ARSD p.Ile146Thr Uncertain significance Single submitter
- ARSD p.Ile333Leu Uncertain significance Single submitter
- ARSD p.Leu21Pro Uncertain significance Single submitter
- ARSD p.Leu536Val Uncertain significance Single submitter
- ARSD p.Pro293Ser Uncertain significance Single submitter
- ARSD p.Pro41Ala Uncertain significance Single submitter
- ARSD p.Pro528Ser Uncertain significance Single submitter
- ARSD p.Pro581Leu Uncertain significance Single submitter
- ARSD p.Pro67Leu Uncertain significance Single submitter
- ARSD p.Ser243Cys Uncertain significance Single submitter
- ARSD p.Ser317Thr Uncertain significance Single submitter
- ARSD p.Ser533Cys Uncertain significance Single submitter
- ARSD p.Thr204Asn Uncertain significance Single submitter
- ARSD p.Thr30Met Uncertain significance Single submitter
- ARSD p.Thr66Met Uncertain significance Single submitter
- ARSD p.Trp331Gly Uncertain significance Single submitter
- ARSD p.Val417Met Uncertain significance Single submitter
- ARSD p.Val508Met Uncertain significance Single submitter
- ARSD p.Val540Met Uncertain significance Single submitter
- ARSD p.Val548Leu Uncertain significance Single submitter
- ARSD p.Val558Ala Uncertain significance Single submitter
-
ARSD p.Gln318His
Likely benign
No assertion criteria
ARSD-related disorder
-
ARSD p.Gly221Ser
Likely benign
No assertion criteria
ARSD-related disorder
-
ARSD p.Gly320Asp
Likely benign
No assertion criteria
ARSD-related disorder
-
ARSD p.Leu166Gln
Likely benign
No assertion criteria
ARSD-related disorder
-
ARSD p.Phe240Cys
Likely benign
No assertion criteria
ARSD-related disorder
All ARSD variants
Benign 4
- p.Cys577= Multiple submitters
- p.Gly409Glu Multiple submitters
- p.Ser224Cys Multiple submitters ⚠
- p.Val500Ile Multiple submitters
Likely benign 22
- p.Gly323= Multiple submitters
- p.Gln553His Single submitter ⚠
- p.Leu298Val Single submitter
- p.Pro19Leu Single submitter
- p.Tyr322= Single submitter
- c.1000+810T>C No assertion criteria ARSD-related disorder
- c.1000+882A>G No assertion criteria ARSD-related disorder
- c.1000+901A>G No assertion criteria ARSD-related disorder
- c.1000+929T>C No assertion criteria ARSD-related disorder
- p.Ala234_Val236del No assertion criteria ARSD-related disorder
- p.Ala282Asp No assertion criteria ARSD-related disorder
- p.Cys238Phe No assertion criteria ARSD-related disorder
- p.Gln318His No assertion criteria ARSD-related disorder ⚠
- p.Gly175Asp No assertion criteria ARSD-related disorder
- p.Gly221Ser No assertion criteria ARSD-related disorder ⚠
- p.Gly320Asp No assertion criteria ARSD-related disorder ⚠
- p.Leu166Gln No assertion criteria ARSD-related disorder ⚠
- p.Met176Lys No assertion criteria ARSD-related disorder
- p.Phe223Ile No assertion criteria ARSD-related disorder
- p.Phe240Cys No assertion criteria ARSD-related disorder ⚠
- p.Ser157Phe No assertion criteria ARSD-related disorder
- p.Trp331Ter No assertion criteria ARSD-related disorder
Uncertain significance 75
- p.Ala109Thr Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala194Val Single submitter ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala215Pro Single submitter ⚠
- p.Ala275Glu Single submitter ⚠
- p.Ala312Val Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala492Thr Single submitter ⚠
- p.Ala539Asp Single submitter ⚠
- p.Ala539Thr Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg158His Single submitter ⚠
- p.Arg158Pro Single submitter ⚠
- p.Arg15fs Single submitter
- p.Arg364Gly Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg498Gln Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Asn128Ile Single submitter ⚠
- p.Asn182His Single submitter ⚠
- p.Asp342Ala Single submitter ⚠
- p.Asp473His Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Cys220Trp Single submitter ⚠
- p.Gln117Glu Single submitter ⚠
- p.Gln205His Single submitter ⚠
- p.Glu287Gly Single submitter ⚠
- p.Glu490Lys Single submitter ⚠
- p.Gly202Val Single submitter ⚠
- p.Gly292Glu Single submitter ⚠
- p.Gly394Arg Single submitter ⚠
- p.Gly505Arg Single submitter ⚠
- p.Gly60Arg Single submitter ⚠
- p.His291Arg Single submitter ⚠
- p.His302Asp Single submitter ⚠
- p.His579Tyr Single submitter ⚠
- p.Ile146Thr Single submitter ⚠
- p.Ile305Thr Single submitter ⚠
- p.Ile333Leu Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu258Pro Single submitter ⚠
- p.Leu536Val Single submitter ⚠
- p.Lys148Gln Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro293Ser Single submitter ⚠
- p.Pro306Arg Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Pro528Ser Single submitter ⚠
- p.Pro571Ser Single submitter ⚠
- p.Pro581Leu Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Ser243Cys Single submitter ⚠
- p.Ser317Thr Single submitter ⚠
- p.Ser3Pro Single submitter ⚠
- p.Ser533Cys Single submitter ⚠
- p.Thr204Asn Single submitter ⚠
- p.Thr30Met Single submitter ⚠
- p.Thr66Met Single submitter ⚠
- p.Thr98Lys Single submitter ⚠
- p.Trp331Gly Single submitter ⚠
- p.Trp478Arg Single submitter ⚠
- p.Val264Ile Single submitter ⚠
- p.Val270Ile Single submitter ⚠
- p.Val417Met Single submitter ⚠
- p.Val441Leu Single submitter ⚠
- p.Val477Ile Single submitter ⚠
- p.Val508Met Single submitter ⚠
- p.Val540Met Single submitter ⚠
- p.Val548Leu Single submitter ⚠
- p.Val558Ala Single submitter ⚠