ARSH — 90 ClinVar variants
All ClinVar germline ARSH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
2 Conflicting · 12 Benign · 8 Likely benign · 68 Uncertain significance
Full ARSH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARSH p.Ala175Val Uncertain significance Single submitter
- ARSH p.Ala187Thr Uncertain significance Single submitter
- ARSH p.Arg106His Uncertain significance Single submitter
- ARSH p.Arg125Trp Uncertain significance Single submitter
- ARSH p.Arg311His Uncertain significance Single submitter
- ARSH p.Asn406Ile Uncertain significance Single submitter
- ARSH p.Asn80Ser Uncertain significance Single submitter
- ARSH p.Asn8Lys Uncertain significance Single submitter
- ARSH p.Asp297Val Uncertain significance Single submitter
- ARSH p.Cys129Arg Uncertain significance Single submitter
- ARSH p.Cys470Arg Uncertain significance Single submitter
- ARSH p.Glu554Lys Uncertain significance Single submitter
- ARSH p.Gly356Asp Uncertain significance Single submitter
- ARSH p.Gly361Ala Uncertain significance Single submitter
- ARSH p.Gly464Arg Uncertain significance Single submitter
- ARSH p.Gly472Glu Uncertain significance Single submitter
- ARSH p.His425Arg Uncertain significance Single submitter
- ARSH p.His477Asp Uncertain significance Single submitter
- ARSH p.Ile69Val Uncertain significance Single submitter
- ARSH p.Lys508Arg Uncertain significance Single submitter
- ARSH p.Met236Val Uncertain significance Single submitter
- ARSH p.Phe424Leu Uncertain significance Single submitter
- ARSH p.Pro235Leu Uncertain significance Single submitter
- ARSH p.Pro330Thr Uncertain significance Single submitter
- ARSH p.Pro497Ala Uncertain significance Single submitter
- ARSH p.Pro562His Uncertain significance Single submitter
- ARSH p.Pro562Ser Uncertain significance Single submitter
- ARSH p.Thr110Lys Uncertain significance Single submitter
- ARSH p.Thr2Ala Uncertain significance Single submitter
- ARSH p.Val196Ile Uncertain significance Single submitter
- ARSH p.Val281Ala Uncertain significance Single submitter
- ARSH p.Val281Leu Uncertain significance Single submitter
- ARSH p.Val450Ala Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- ARSH p.Arg358Cys Benign Multiple submitters
- ARSH p.Arg37His Benign Multiple submitters
- ARSH p.Pro144Thr Benign Multiple submitters
- ARSH p.Ala100Thr Uncertain significance Single submitter
- ARSH p.Ala14Thr Uncertain significance Single submitter
- ARSH p.Arg109Cys Uncertain significance Single submitter
- ARSH p.Arg161Cys Uncertain significance Single submitter
- ARSH p.Arg188Cys Uncertain significance Single submitter
- ARSH p.Arg364Trp Uncertain significance Single submitter
- ARSH p.Arg414Met Uncertain significance Single submitter
- ARSH p.Arg518Cys Uncertain significance Single submitter
- ARSH p.Arg59Gln Uncertain significance Single submitter
- ARSH p.Arg66Trp Conflicting Single submitter
- ARSH p.Asp399Glu Uncertain significance Single submitter
- ARSH p.Glu421Lys Uncertain significance Single submitter
- ARSH p.Gly107Ser Uncertain significance Single submitter
- ARSH p.Gly26Ser Uncertain significance Single submitter
- ARSH p.Gly333Arg Uncertain significance Single submitter
- ARSH p.Gly342Arg Uncertain significance Single submitter
- ARSH p.Gly392Asp Uncertain significance Single submitter
- ARSH p.Gly65Ser Uncertain significance Single submitter
- ARSH p.His271Arg Uncertain significance Single submitter
- ARSH p.Ile384Thr Uncertain significance Single submitter
- ARSH p.Ile534Thr Uncertain significance Single submitter
- ARSH p.Leu203Phe Uncertain significance Single submitter
- ARSH p.Leu431Gln Uncertain significance Single submitter
- ARSH p.Lys115Arg Uncertain significance Single submitter
- ARSH p.Lys278Asn Uncertain significance Single submitter
- ARSH p.Pro260His Uncertain significance Single submitter
- ARSH p.Pro480Ala Uncertain significance Single submitter
- ARSH p.Pro537Leu Conflicting Single submitter
- ARSH p.Ser243Ala Uncertain significance Single submitter
- ARSH p.Thr171Met Uncertain significance Single submitter
- ARSH p.Thr272Asn Uncertain significance Single submitter
- ARSH p.Thr387Met Benign Single submitter
- ARSH p.Tyr430Phe Uncertain significance Single submitter
- ARSH p.Val300Leu Uncertain significance Single submitter
- ARSH p.Val368Ile Uncertain significance Single submitter
- ARSH p.Val374Ala Uncertain significance Single submitter
- ARSH p.Val450Met Uncertain significance Single submitter
- ARSH p.Gly393Arg Uncertain significance No assertion criteria
- ARSH p.Val143Gly Likely benign No assertion criteria
All ARSH variants
Conflicting classifications of pathogenicity 2
- p.Arg66Trp Single submitter ⚠
- p.Pro537Leu Single submitter ⚠
Benign 12
- p.Arg358Cys Multiple submitters ⚠
- p.Arg37His Multiple submitters ⚠
- p.Met408Ile Multiple submitters
- p.Pro144Thr Multiple submitters ⚠
- c.*8C>G Single submitter
- p.Cys129= Single submitter
- p.Leu317= Single submitter
- p.Leu49= Single submitter
- p.Ser214Asn Single submitter
- p.Thr218Ile Single submitter
- p.Thr387Met Single submitter ⚠
- p.Thr64= Single submitter
Likely benign 8
- c.340+18T>G Single submitter
- p.Arg188His Single submitter
- p.Asn376Ser Single submitter
- p.Leu388= Single submitter
- p.Pro132= Single submitter
- p.Pro537= Single submitter
- c.-18G>A No assertion criteria ARSH-related condition
- p.Val143Gly No assertion criteria ⚠
Uncertain significance 68
- p.Ala100Thr Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala175Val Single submitter ⚠
- p.Ala187Thr Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg109Cys Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg311His Single submitter ⚠
- p.Arg364Trp Single submitter ⚠
- p.Arg414Met Single submitter ⚠
- p.Arg518Cys Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Asn406Ile Single submitter ⚠
- p.Asn80Ser Single submitter ⚠
- p.Asn8Lys Single submitter ⚠
- p.Asp297Val Single submitter ⚠
- p.Asp399Glu Single submitter ⚠
- p.Cys129Arg Single submitter ⚠
- p.Cys470Arg Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu554Lys Single submitter ⚠
- p.Gly107Ser Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly333Arg Single submitter ⚠
- p.Gly342Arg Single submitter ⚠
- p.Gly356Asp Single submitter ⚠
- p.Gly361Ala Single submitter ⚠
- p.Gly392Asp Single submitter ⚠
- p.Gly464Arg Single submitter ⚠
- p.Gly472Glu Single submitter ⚠
- p.Gly65Ser Single submitter ⚠
- p.His271Arg Single submitter ⚠
- p.His425Arg Single submitter ⚠
- p.His477Asp Single submitter ⚠
- p.Ile384Thr Single submitter ⚠
- p.Ile534Thr Single submitter ⚠
- p.Ile69Val Single submitter ⚠
- p.Leu203Phe Single submitter ⚠
- p.Leu431Gln Single submitter ⚠
- p.Lys115Arg Single submitter ⚠
- p.Lys278Asn Single submitter ⚠
- p.Lys508Arg Single submitter ⚠
- p.Met236Val Single submitter ⚠
- p.Phe424Leu Single submitter ⚠
- p.Pro235Leu Single submitter ⚠
- p.Pro260His Single submitter ⚠
- p.Pro330Thr Single submitter ⚠
- p.Pro480Ala Single submitter ⚠
- p.Pro497Ala Single submitter ⚠
- p.Pro562His Single submitter ⚠
- p.Pro562Ser Single submitter ⚠
- p.Ser243Ala Single submitter ⚠
- p.Thr110Lys Single submitter ⚠
- p.Thr171Met Single submitter ⚠
- p.Thr272Asn Single submitter ⚠
- p.Thr2Ala Single submitter ⚠
- p.Tyr430Phe Single submitter ⚠
- p.Val196Ile Single submitter ⚠
- p.Val281Ala Single submitter ⚠
- p.Val281Leu Single submitter ⚠
- p.Val300Leu Single submitter ⚠
- p.Val368Ile Single submitter ⚠
- p.Val374Ala Single submitter ⚠
- p.Val450Ala Single submitter ⚠
- p.Val450Met Single submitter ⚠
- p.Gly393Arg No assertion criteria ⚠