CLSTN1 — 155 ClinVar variants

All ClinVar germline CLSTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

3 Benign · 8 Likely benign · 144 Uncertain significance

Full CLSTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

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 80

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

Predictors split 64

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

All CLSTN1 variants

Benign 3

p.Phe70Tyr Multiple submitters
p.Pro276= Multiple submitters
p.Pro295= Single submitter

Likely benign 8

p.Val109Ile Multiple submitters
c.2427+9A>G Single submitter
p.Asn849Ser Single submitter
p.Glu480Lys Single submitter
p.Glu951Asp Single submitter
p.Ser379= Single submitter
p.Thr967Ser Single submitter
p.Tyr227= Single submitter

Uncertain significance 144

p.Ala161Thr Single submitter ⚠
p.Ala161Val Single submitter ⚠
p.Ala540Val Single submitter ⚠
p.Ala550Ser Single submitter ⚠
p.Ala550Val Single submitter ⚠
p.Ala667Thr Single submitter ⚠
p.Ala66Val Single submitter ⚠
p.Ala699Val Single submitter ⚠
p.Ala966Thr Single submitter ⚠
p.Arg426Trp Single submitter ⚠
p.Arg432Cys Single submitter ⚠
p.Arg432His Single submitter ⚠
p.Arg545Cys Single submitter ⚠
p.Arg545His Single submitter ⚠
p.Arg683His Single submitter ⚠
p.Arg742His Single submitter ⚠
p.Arg778Gln Single submitter ⚠
p.Arg891Gln Single submitter ⚠
p.Arg968Gly Single submitter ⚠
p.Asn346Lys Single submitter ⚠
p.Asn355Ser Single submitter ⚠
p.Asn538Ser Single submitter ⚠
p.Asn811Ile Single submitter ⚠
p.Asp208His Single submitter ⚠
p.Asp214Ala Single submitter ⚠
p.Asp250Gly Single submitter ⚠
p.Asp315Asn Single submitter ⚠
p.Asp434Gly Single submitter ⚠
p.Asp50Asn Single submitter ⚠
p.Asp556Asn Single submitter ⚠
p.Asp599His Single submitter ⚠
p.Gln153Arg Single submitter ⚠
p.Gln198His Single submitter ⚠
p.Gln300His Single submitter ⚠
p.Gln745Glu Single submitter ⚠
p.Gln921Leu Single submitter ⚠
p.Gln969Arg Single submitter ⚠
p.Glu107Asp Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu294Lys Single submitter ⚠
p.Glu437Lys Single submitter ⚠
p.Glu597Lys Single submitter ⚠
p.Glu652Gly Single submitter ⚠
p.Glu711Lys Single submitter ⚠
p.Glu925Asp Single submitter ⚠
p.Glu940Lys Single submitter ⚠
p.Glu951Gly Single submitter ⚠
p.Glu954Lys Single submitter ⚠
p.Gly108Arg Single submitter ⚠
p.Gly376Ser Single submitter ⚠
p.Gly398Ser Single submitter ⚠
p.Gly547Arg Single submitter ⚠
p.Gly592Val Single submitter ⚠
p.Gly698Arg Single submitter ⚠
p.Gly896Arg Single submitter ⚠
p.Gly91Arg Single submitter ⚠
p.Gly91Glu Single submitter ⚠
p.Gly939Ser Single submitter ⚠
p.Gly958Arg Single submitter ⚠
p.His309Asn Single submitter ⚠
p.His460Arg Single submitter ⚠
p.His886Arg Single submitter ⚠
p.Ile182Val Single submitter ⚠
p.Ile204Val Single submitter ⚠
p.Ile257Ser Single submitter ⚠
p.Ile272Thr Single submitter ⚠
p.Ile310Thr Single submitter ⚠
p.Ile388Thr Single submitter ⚠
p.Ile404Val Single submitter ⚠
p.Ile495Thr Single submitter ⚠
p.Ile555Val Single submitter ⚠
p.Ile60Val Single submitter ⚠
p.Leu420Val Single submitter ⚠
p.Leu717Val Single submitter ⚠
p.Lys113Arg Single submitter ⚠
p.Lys224Gln Single submitter ⚠
p.Lys401Asn Single submitter ⚠
p.Lys401Glu Single submitter ⚠
p.Lys552Arg Single submitter ⚠
p.Lys64Glu Single submitter ⚠
p.Lys746Gln Single submitter ⚠
p.Lys791Gln Single submitter ⚠
p.Met413Ile Single submitter ⚠
p.Met413Thr Single submitter ⚠
p.Met531Val Single submitter ⚠
p.Met765Val Single submitter ⚠
p.Phe196Leu Single submitter ⚠
p.Phe482Leu Single submitter ⚠
p.Pro11Arg Single submitter ⚠
p.Pro263Arg Single submitter ⚠
p.Pro276Leu Single submitter ⚠
p.Pro341Arg Single submitter ⚠
p.Pro341Leu Single submitter ⚠
p.Pro385Leu Single submitter ⚠
p.Pro435Leu Single submitter ⚠
p.Pro489Leu Single submitter ⚠
p.Pro58Gln Single submitter ⚠
p.Pro640Arg Single submitter ⚠
p.Pro7Ser Single submitter ⚠
p.Pro834Leu Single submitter ⚠
p.Ser201Gly Single submitter ⚠
p.Ser483Phe Single submitter ⚠
p.Ser637Leu Single submitter ⚠
p.Ser658Asn Single submitter ⚠
p.Ser73Asn Single submitter ⚠
p.Ser767Gly Single submitter ⚠
p.Ser784Thr Single submitter ⚠
p.Ser784Tyr Single submitter ⚠
p.Ser977Phe Single submitter ⚠
p.Thr172Met Single submitter ⚠
p.Thr222Arg Single submitter ⚠
p.Thr222Lys Single submitter ⚠
p.Thr334Ala Single submitter ⚠
p.Thr477Lys Single submitter ⚠
p.Thr543Ala Single submitter ⚠
p.Thr689Met Single submitter ⚠
p.Thr723Met Single submitter ⚠
p.Thr815Met Single submitter ⚠
p.Thr911Ser Single submitter ⚠
p.Thr978Ile Single submitter ⚠
p.Tyr131Cys Single submitter ⚠
p.Tyr179Cys Single submitter ⚠
p.Tyr218Phe Single submitter ⚠
p.Tyr233Cys Single submitter ⚠
p.Tyr240Cys Single submitter ⚠
p.Tyr421Cys Single submitter ⚠
p.Tyr768Cys Single submitter ⚠
p.Val157Met Single submitter ⚠
p.Val163Met Single submitter ⚠
p.Val173Phe Single submitter ⚠
p.Val237Ile Single submitter ⚠
p.Val303Ala Single submitter ⚠
p.Val380Phe Single submitter ⚠
p.Val500Met Single submitter ⚠
p.Val53Leu Single submitter ⚠
p.Val577Met Single submitter ⚠
p.Val714Met Single submitter ⚠
p.Val724Leu Single submitter ⚠
p.Val738Met Single submitter ⚠
p.Val762Met Single submitter ⚠
p.Val808Met Single submitter ⚠
p.Val868Phe Single submitter ⚠
p.Val912Ile Single submitter ⚠
p.Val99Glu Single submitter ⚠