CLSTN3 — 143 ClinVar variants

All ClinVar germline CLSTN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

3 Benign · 5 Likely benign · 135 Uncertain significance

Full CLSTN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 81

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

Predictors split 54

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

All CLSTN3 variants

Benign 3

c.2730+19C>T Single submitter
p.Ala15Ser Single submitter
p.Ala259= Single submitter

Likely benign 5

p.Ala85= Single submitter
p.Gly605= Single submitter
p.Ser943= Single submitter
p.Thr511= Single submitter
p.Val864Ile Single submitter

Uncertain significance 135

p.Arg806Trp Multiple submitters ⚠
p.Ala11Val Single submitter ⚠
p.Ala152Val Single submitter ⚠
p.Ala153Thr Single submitter ⚠
p.Ala304Val Single submitter ⚠
p.Ala312Pro Single submitter ⚠
p.Ala312Val Single submitter ⚠
p.Ala451Thr Single submitter ⚠
p.Ala487Val Single submitter ⚠
p.Ala85Val Single submitter ⚠
p.Arg148Trp Single submitter ⚠
p.Arg151Cys Single submitter ⚠
p.Arg162Cys Single submitter ⚠
p.Arg165Trp Single submitter ⚠
p.Arg252Ser Single submitter ⚠
p.Arg306Trp Single submitter ⚠
p.Arg431Cys Single submitter ⚠
p.Arg540His Single submitter ⚠
p.Arg600Cys Single submitter ⚠
p.Arg60Cys Single submitter ⚠
p.Arg610Cys Single submitter ⚠
p.Arg653His Single submitter ⚠
p.Arg696Cys Single submitter ⚠
p.Arg721Gln Single submitter ⚠
p.Arg764Cys Single submitter ⚠
p.Arg766Gln Single submitter ⚠
p.Arg766Trp Single submitter ⚠
p.Arg768Gln Single submitter ⚠
p.Arg779Gln Single submitter ⚠
p.Arg869Cys Single submitter ⚠
p.Arg876His Single submitter ⚠
p.Arg915Leu Single submitter ⚠
p.Arg946Gly Single submitter ⚠
p.Arg947His Single submitter ⚠
p.Arg955Cys Single submitter ⚠
p.Arg955His Single submitter ⚠
p.Asn189Ser Single submitter ⚠
p.Asn279Lys Single submitter ⚠
p.Asn325Ser Single submitter ⚠
p.Asn387Lys Single submitter ⚠
p.Asn587Thr Single submitter ⚠
p.Asn662Ser Single submitter ⚠
p.Asn841His Single submitter ⚠
p.Asp113Gly Single submitter ⚠
p.Asp464Asn Single submitter ⚠
p.Asp54Gly Single submitter ⚠
p.Asp685Val Single submitter ⚠
p.Asp944Glu Single submitter ⚠
p.Cys398Ser Single submitter ⚠
p.Gln338Arg Single submitter ⚠
p.Gln642Glu Single submitter ⚠
p.Glu116Lys Single submitter ⚠
p.Glu211Asp Single submitter ⚠
p.Glu393Asp Single submitter ⚠
p.Glu544Lys Single submitter ⚠
p.Glu628Gln Single submitter ⚠
p.Gly248Val Single submitter ⚠
p.Gly406Ser Single submitter ⚠
p.Gly477Asp Single submitter ⚠
p.Gly505Arg Single submitter ⚠
p.Gly770Arg Single submitter ⚠
p.Gly857Ala Single submitter ⚠
p.Gly882Glu Single submitter ⚠
p.Gly924Glu Single submitter ⚠
p.Gly925Ala Single submitter ⚠
p.His132Leu Single submitter ⚠
p.His415Tyr Single submitter ⚠
p.His480Leu Single submitter ⚠
p.His520Gln Single submitter ⚠
p.His524Arg Single submitter ⚠
p.His678Pro Single submitter ⚠
p.His833Arg Single submitter ⚠
p.His954Asp Single submitter ⚠
p.Ile194Thr Single submitter ⚠
p.Ile253Asn Single submitter ⚠
p.Ile268Val Single submitter ⚠
p.Ile710Leu Single submitter ⚠
p.Ile710Met Single submitter ⚠
p.Leu472Val Single submitter ⚠
p.Leu527Val Single submitter ⚠
p.Leu760Met Single submitter ⚠
p.Leu820Arg Single submitter ⚠
p.Leu82Phe Single submitter ⚠
p.Leu835Pro Single submitter ⚠
p.Lys500Asn Single submitter ⚠
p.Lys504Met Single submitter ⚠
p.Lys891Arg Single submitter ⚠
p.Met596Arg Single submitter ⚠
p.Met785Leu Single submitter ⚠
p.Met785Val Single submitter ⚠
p.Met862Val Single submitter ⚠
p.Phe896Leu Single submitter ⚠
p.Pro188Thr Single submitter ⚠
p.Pro266Ser Single submitter ⚠
p.Pro320Ser Single submitter ⚠
p.Pro324Leu Single submitter ⚠
p.Pro425Leu Single submitter ⚠
p.Pro481Leu Single submitter ⚠
p.Pro482Ser Single submitter ⚠
p.Pro516Leu Single submitter ⚠
p.Pro58Leu Single submitter ⚠
p.Pro827Leu Single submitter ⚠
p.Pro952Ser Single submitter ⚠
p.Pro96Ala Single submitter ⚠
p.Ser245Arg Single submitter ⚠
p.Ser534Leu Single submitter ⚠
p.Ser783Leu Single submitter ⚠
p.Ser842Phe Single submitter ⚠
p.Ser935Leu Single submitter ⚠
p.Ser940Phe Single submitter ⚠
p.Ser942Asn Single submitter ⚠
p.Thr123Ser Single submitter ⚠
p.Thr217Ile Single submitter ⚠
p.Thr2Ile Single submitter ⚠
p.Thr458Ala Single submitter ⚠
p.Thr585Asn Single submitter ⚠
p.Thr585Ile Single submitter ⚠
p.Thr691Ala Single submitter ⚠
p.Thr695Lys Single submitter ⚠
p.Thr728Ile Single submitter ⚠
p.Thr741Ile Single submitter ⚠
p.Thr754Ile Single submitter ⚠
p.Tyr522His Single submitter ⚠
p.Tyr774Cys Single submitter ⚠
p.Val37Ala Single submitter ⚠
p.Val37Ile Single submitter ⚠
p.Val37Leu Single submitter ⚠
p.Val397Ile Single submitter ⚠
p.Val532Met Single submitter ⚠
p.Val593Ala Single submitter ⚠
p.Val624Ile Single submitter ⚠
p.Val664Ile Single submitter ⚠
p.Val680Ala Single submitter ⚠
p.Val755Ala Single submitter ⚠
p.Val856Met Single submitter ⚠