CLSTN2 — 166 ClinVar variants

All ClinVar germline CLSTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →

2 Conflicting · 5 Benign · 8 Likely benign · 151 Uncertain significance

Full CLSTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 153

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 87

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

Predictors split 66

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

All CLSTN2 variants

Conflicting classifications of pathogenicity 2

p.Arg755His Single submitter ⚠
p.Glu910Lys Single submitter ⚠

Benign 5

c.233-8T>G Multiple submitters
p.Gly776= Multiple submitters
p.Ile124= Multiple submitters
p.Asp676= Single submitter
p.Glu928_Glu929del Single submitter

Likely benign 8

p.Ile306Asn Multiple submitters ⚠
p.Arg820Gln Single submitter
p.Asp613= Single submitter
p.Asp793Val Single submitter
p.His134= Single submitter
p.Ile547= Single submitter
p.Thr671= Single submitter
p.Val366= Single submitter

Uncertain significance 151

p.Ala131Thr Single submitter ⚠
p.Ala137Asp Single submitter ⚠
p.Ala243Thr Single submitter ⚠
p.Ala326Asp Single submitter ⚠
p.Ala440Val Single submitter ⚠
p.Ala520Val Single submitter ⚠
p.Ala540Asp Single submitter ⚠
p.Ala669Thr Single submitter ⚠
p.Ala858Thr Single submitter ⚠
p.Ala868Pro Single submitter ⚠
p.Ala880Val Single submitter ⚠
p.Ala941Ser Single submitter ⚠
p.Arg105Gln Single submitter ⚠
p.Arg105Trp Single submitter ⚠
p.Arg312Gln Single submitter ⚠
p.Arg312Trp Single submitter ⚠
p.Arg411Leu Single submitter ⚠
p.Arg422His Single submitter ⚠
p.Arg438Cys Single submitter ⚠
p.Arg525His Single submitter ⚠
p.Arg580Cys Single submitter ⚠
p.Arg599Gln Single submitter ⚠
p.Arg634Trp Single submitter ⚠
p.Arg638Gln Single submitter ⚠
p.Arg638Trp Single submitter ⚠
p.Arg709Lys Single submitter ⚠
p.Arg744Cys Single submitter ⚠
p.Arg753His Single submitter ⚠
p.Arg765Gln Single submitter ⚠
p.Arg768Gln Single submitter ⚠
p.Arg777His Single submitter ⚠
p.Arg820Trp Single submitter ⚠
p.Arg854Gln Single submitter ⚠
p.Asn420His Single submitter ⚠
p.Asn589His Single submitter ⚠
p.Asn756Ser Single submitter ⚠
p.Asn781Lys Single submitter ⚠
p.Asp204His Single submitter ⚠
p.Asp210Asn Single submitter ⚠
p.Asp237Asn Single submitter ⚠
p.Asp246His Single submitter ⚠
p.Asp26Tyr Single submitter ⚠
p.Asp311Ala Single submitter ⚠
p.Asp359Glu Single submitter ⚠
p.Asp359Tyr Single submitter ⚠
p.Asp377Asn Single submitter ⚠
p.Asp613Glu Single submitter ⚠
p.Asp69Gly Single submitter ⚠
p.Asp705Tyr Single submitter ⚠
p.Asp921Asn Single submitter ⚠
p.Cys609Tyr Single submitter ⚠
p.Gln226His Single submitter ⚠
p.Gln250Arg Single submitter ⚠
p.Gln433Arg Single submitter ⚠
p.Gln555Arg Single submitter ⚠
p.Gln649Pro Single submitter ⚠
p.Glu135Lys Single submitter ⚠
p.Glu162Ala Single submitter ⚠
p.Glu186Lys Single submitter ⚠
p.Glu230Asp Single submitter ⚠
p.Glu230Lys Single submitter ⚠
p.Glu269Lys Single submitter ⚠
p.Glu551Gly Single submitter ⚠
p.Glu620Lys Single submitter ⚠
p.Glu688Lys Single submitter ⚠
p.Glu799Lys Single submitter ⚠
p.Glu818Ala Single submitter ⚠
p.Glu818Gln Single submitter ⚠
p.Glu898Asp Single submitter ⚠
p.Gly18Val Single submitter ⚠
p.Gly239Arg Single submitter ⚠
p.Gly23Asp Single submitter ⚠
p.Gly23Ser Single submitter ⚠
p.Gly275Arg Single submitter ⚠
p.Gly290Glu Single submitter ⚠
p.Gly307Glu Single submitter ⚠
p.Gly360Ser Single submitter ⚠
p.Gly527Asp Single submitter ⚠
p.Gly572Asp Single submitter ⚠
p.Gly703Arg Single submitter ⚠
p.Gly851Arg Single submitter ⚠
p.Gly934Ser Single submitter ⚠
p.Gly937Arg Single submitter ⚠
p.His284Tyr Single submitter ⚠
p.His387Gln Single submitter ⚠
p.His387Tyr Single submitter ⚠
p.His412Asn Single submitter ⚠
p.His724Gln Single submitter ⚠
p.His803Gln Single submitter ⚠
p.His896Tyr Single submitter ⚠
p.Ile200Val Single submitter ⚠
p.Ile575Ser Single submitter ⚠
p.Ile618Val Single submitter ⚠
p.Ile662Met Single submitter ⚠
p.Ile702Met Single submitter ⚠
p.Ile823Thr Single submitter ⚠
p.Ile857Met Single submitter ⚠
p.Leu15Met Single submitter ⚠
p.Leu221Met Single submitter ⚠
p.Leu423Arg Single submitter ⚠
p.Leu446Arg Single submitter ⚠
p.Leu538Pro Single submitter ⚠
p.Leu804Val Single submitter ⚠
p.Lys118Gln Single submitter ⚠
p.Lys606Glu Single submitter ⚠
p.Lys683Ile Single submitter ⚠
p.Met843Thr Single submitter ⚠
p.Phe514Leu Single submitter ⚠
p.Phe659Leu Single submitter ⚠
p.Pro111Ser Single submitter ⚠
p.Pro3Leu Single submitter ⚠
p.Pro509Gln Single submitter ⚠
p.Pro563Thr Single submitter ⚠
p.Pro660Thr Single submitter ⚠
p.Pro674His Single submitter ⚠
p.Pro759Leu Single submitter ⚠
p.Pro809Ala Single submitter ⚠
p.Ser21Asn Single submitter ⚠
p.Ser222Arg Single submitter ⚠
p.Ser27Arg Single submitter ⚠
p.Ser338Arg Single submitter ⚠
p.Ser352Asn Single submitter ⚠
p.Ser390Arg Single submitter ⚠
p.Ser788Arg Single submitter ⚠
p.Thr341Ala Single submitter ⚠
p.Thr380Ile Single submitter ⚠
p.Thr436Ile Single submitter ⚠
p.Thr58Lys Single submitter ⚠
p.Thr595Met Single submitter ⚠
p.Thr667Asn Single submitter ⚠
p.Thr882Ile Single submitter ⚠
p.Trp384Arg Single submitter ⚠
p.Trp876Gly Single submitter ⚠
p.Tyr127Asn Single submitter ⚠
p.Tyr456His Single submitter ⚠
p.Tyr457His Single submitter ⚠
p.Tyr587His Single submitter ⚠
p.Tyr734Phe Single submitter ⚠
p.Val201Ile Single submitter ⚠
p.Val249Met Single submitter ⚠
p.Val292Met Single submitter ⚠
p.Val298Ile Single submitter ⚠
p.Val506Leu Single submitter ⚠
p.Val625Met Single submitter ⚠
p.Val677Ala Single submitter ⚠
p.Val806Ala Single submitter ⚠
p.Val847Leu Single submitter ⚠
p.Val848Ala Single submitter ⚠
p.Val855Ile Single submitter ⚠
p.Val9Leu Single submitter ⚠
p.Glu773Ter No assertion criteria