ARSK — 91 ClinVar variants

All ClinVar germline ARSK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 12 Likely benign · 71 Uncertain significance

Full ARSK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 68

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 41

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All ARSK variants

Pathogenic 3

p.Arg84Cys No assertion criteria mucopolysaccharidosis, type 10
p.Leu187Ter No assertion criteria mucopolysaccharidosis, type 10
p.Tyr417Ter No assertion criteria mucopolysaccharidosis, type 10

Likely pathogenic 1

p.Asn262fs Single submitter mucopolysaccharidosis, type 10

Benign 3

c.699+18G>T Single submitter
p.Ile471= Single submitter
p.Ser430= Single submitter

Benign/Likely benign 1

p.Lys518= Multiple submitters

Likely benign 12

c.126+18G>A Single submitter
p.Arg26Pro Single submitter
p.Asn61= Single submitter
p.Gln525Arg Single submitter
p.His236Arg Single submitter
p.Leu349= Single submitter
p.Pro159= Single submitter
p.Ser69= Single submitter
p.Val354= Single submitter
p.Val452Ile Single submitter
c.257-6del No assertion criteria ARSK-related disorder
p.Pro337Leu No assertion criteria ARSK-related disorder

Uncertain significance 71

p.Ala11Thr Single submitter ⚠
p.Ala191Pro Single submitter ⚠
p.Ala238Asp Single submitter ⚠
p.Ala318Thr Single submitter ⚠
p.Ala428Gly Single submitter ⚠
p.Arg122Gln Single submitter ⚠
p.Arg141Leu Single submitter ⚠
p.Arg165Cys Single submitter ⚠
p.Arg26Gln Single submitter ⚠
p.Arg322Gly Single submitter mucopolysaccharidosis, type 10 ⚠
p.Arg420Gln Single submitter ⚠
p.Arg507Ser Single submitter ⚠
p.Arg517Gly Single submitter ⚠
p.Arg66Cys Single submitter ⚠
p.Arg66Ser Single submitter ⚠
p.Arg84His Single submitter ⚠
p.Asn274Ser Single submitter ⚠
p.Asn375Tyr Single submitter ⚠
p.Asp106Gly Single submitter ⚠
p.Asp106His Single submitter ⚠
p.Asp130Tyr Single submitter ⚠
p.Asp301Val Single submitter ⚠
p.Asp40Tyr Single submitter ⚠
p.Asp43Tyr Single submitter ⚠
p.Asp43Val Single submitter ⚠
p.Asp441Gly Single submitter ⚠
p.Asp511Glu Single submitter ⚠
p.Asp524Gly Single submitter ⚠
p.Gln155Pro Single submitter ⚠
p.Gln438Ter Single submitter mucopolysaccharidosis, type 10
p.Gln525Glu Single submitter ⚠
p.Glu196Lys Single submitter ⚠
p.Glu271Lys Single submitter ⚠
p.Glu316Val Single submitter ⚠
p.Glu331Lys Single submitter ⚠
p.Glu392Gly Single submitter ⚠
p.Gly203Ala Single submitter ⚠
p.Gly22Arg Single submitter ⚠
p.His408Tyr Single submitter ⚠
p.Ile192Val Single submitter ⚠
p.Ile367Phe Single submitter ⚠
p.Ile435Met Single submitter ⚠
p.Leu105Val Single submitter ⚠
p.Leu290Phe Single submitter ⚠
p.Leu381Ser Single submitter ⚠
p.Leu436Phe Single submitter ⚠
p.Leu436Val Single submitter ⚠
p.Leu463Ser Single submitter ⚠
p.Lys189Arg Single submitter ⚠
p.Lys490Asn Single submitter ⚠
p.Lys492Thr Single submitter ⚠
p.Met282Leu Single submitter ⚠
p.Met364Ile Single submitter
p.Met418Ile Single submitter ⚠
p.Met531Val Single submitter ⚠
p.Phe102Leu Single submitter ⚠
p.Phe151Ser Single submitter ⚠
p.Phe389fs Single submitter
p.Pro337Ala Single submitter ⚠
p.Pro371His Single submitter ⚠
p.Ser257Phe Single submitter ⚠
p.Ser328Gly Single submitter ⚠
p.Ser415Thr Single submitter ⚠
p.Ser430Leu Single submitter ⚠
p.Thr223Ala Single submitter ⚠
p.Thr260Ser Single submitter ⚠
p.Thr460Ile Single submitter ⚠
p.Trp230Ser Single submitter ⚠
p.Val476Leu Single submitter ⚠
p.Val502Ile Single submitter ⚠
p.Val6Glu Single submitter ⚠