CTSH — 53 ClinVar variants
All ClinVar germline CTSH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
4 Benign · 8 Likely benign · 41 Uncertain significance
Full CTSH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTSH p.Ala10Val Uncertain significance Single submitter
- CTSH p.Ala149Ser Uncertain significance Single submitter
- CTSH p.Ala165Val Uncertain significance Single submitter
- CTSH p.Ala23Val Uncertain significance Single submitter
- CTSH p.Asn247Asp Uncertain significance Single submitter
- CTSH p.Asn70Ser Uncertain significance Single submitter
- CTSH p.Asp84His Uncertain significance Single submitter
- CTSH p.Cys138Arg Uncertain significance Single submitter
- CTSH p.Cys214Phe Uncertain significance Single submitter
- CTSH p.Gly11Val Uncertain significance Single submitter
- CTSH p.Gly318Arg Uncertain significance Single submitter
- CTSH p.His53Asn Uncertain significance Single submitter
- CTSH p.Ile222Leu Uncertain significance Single submitter
- CTSH p.Lys300Asn Uncertain significance Single submitter
- CTSH p.Met260Val Uncertain significance Single submitter
- CTSH p.Met85Thr Uncertain significance Single submitter
- CTSH p.Thr204Asn Uncertain significance Single submitter
- CTSH p.Thr4Arg Uncertain significance Single submitter
- CTSH p.Tyr207Cys Uncertain significance Single submitter
- CTSH p.Tyr262Cys Uncertain significance Single submitter
- CTSH p.Tyr288Cys Uncertain significance Single submitter
- CTSH p.Tyr312His Uncertain significance Single submitter
- CTSH p.Val170Met Uncertain significance Single submitter
- CTSH p.Val228Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CTSH p.Ala155Thr Uncertain significance Single submitter
- CTSH p.Arg111Gln Uncertain significance Single submitter
- CTSH p.Arg123Gln Uncertain significance Single submitter
- CTSH p.Asn310Ile Uncertain significance Single submitter
- CTSH p.Asn69Ser Uncertain significance Single submitter
- CTSH p.Asp203His Uncertain significance Single submitter
- CTSH p.Glu316Lys Uncertain significance Single submitter
- CTSH p.Gly159Arg Uncertain significance Single submitter
- CTSH p.Gly304Ser Uncertain significance Single submitter
- CTSH p.Ile315Val Uncertain significance Single submitter
- CTSH p.Leu7Pro Uncertain significance Single submitter
- CTSH p.Pro6Gln Uncertain significance Single submitter
- CTSH p.Pro99Leu Uncertain significance Single submitter
- CTSH p.Ser103Leu Uncertain significance Single submitter
- CTSH p.Thr256Ile Uncertain significance Single submitter
- CTSH p.Tyr213Cys Uncertain significance Single submitter
All CTSH variants
Benign 4
- p.Ala23Thr Multiple submitters
- p.Gly11= Multiple submitters
- p.Thr48= Multiple submitters
- p.Asn70= Single submitter
Likely benign 8
- c.493-6_493-4del Single submitter
- c.699+1G>A Single submitter
- p.Arg63= Single submitter
- p.Gly21= Single submitter
- p.His179= Single submitter
- p.Thr264Ser Single submitter
- p.Arg317Cys No assertion criteria CTSH-related disorder
- p.Asn66= No assertion criteria CTSH-related disorder
Uncertain significance 41
- p.Ala10Val Single submitter ⚠
- p.Ala149Ser Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala165Val Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Asn247Asp Single submitter ⚠
- p.Asn310Ile Single submitter ⚠
- p.Asn69Ser Single submitter ⚠
- p.Asn70Ser Single submitter ⚠
- p.Asp203His Single submitter ⚠
- p.Asp84His Single submitter ⚠
- p.Cys138Arg Single submitter ⚠
- p.Cys214Phe Single submitter ⚠
- p.Glu316Lys Single submitter ⚠
- p.Gly11Val Single submitter ⚠
- p.Gly159Arg Single submitter ⚠
- p.Gly304Ser Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.His53Asn Single submitter ⚠
- p.Ile222Leu Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys300Asn Single submitter ⚠
- p.Met260Val Single submitter ⚠
- p.Met85Thr Single submitter ⚠
- p.Pro6Gln Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser103Leu Single submitter ⚠
- p.Thr204Asn Single submitter ⚠
- p.Thr256Ile Single submitter ⚠
- p.Thr4Arg Single submitter ⚠
- p.Tyr207Cys Single submitter ⚠
- p.Tyr213Cys Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Tyr288Cys Single submitter ⚠
- p.Tyr312His Single submitter ⚠
- p.Val170Met Single submitter ⚠
- p.Val228Ile Single submitter ⚠
- p.Leu162fs No assertion criteria Variant of unknown significance