CTTNBP2NL — 85 ClinVar variants

All ClinVar germline CTTNBP2NL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

2 Benign · 3 Likely benign · 80 Uncertain significance

Full CTTNBP2NL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 67

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

Predictors split 12

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

All CTTNBP2NL variants

Benign 2

p.Met306Val Multiple submitters
p.Glu71Lys Single submitter

Likely benign 3

p.Asn622Ser Single submitter
p.Ile82Val Single submitter
p.Val214Ala Single submitter

Uncertain significance 80

p.Ala346Gly Single submitter ⚠
p.Ala382Ser Single submitter ⚠
p.Ala497Thr Single submitter ⚠
p.Ala537Val Single submitter ⚠
p.Arg213Gln Single submitter ⚠
p.Arg360Gly Single submitter ⚠
p.Arg360Thr Single submitter ⚠
p.Arg375Gln Single submitter ⚠
p.Arg375Trp Single submitter ⚠
p.Arg502Gln Single submitter ⚠
p.Arg511Ile Single submitter ⚠
p.Arg96His Single submitter ⚠
p.Asn191His Single submitter ⚠
p.Asn456Ser Single submitter ⚠
p.Asn49Ser Single submitter ⚠
p.Asn92Lys Single submitter ⚠
p.Asp131Glu Single submitter ⚠
p.Asp353Gly Single submitter ⚠
p.Asp493His Single submitter ⚠
p.Cys619Phe Single submitter ⚠
p.Gln234His Single submitter ⚠
p.Gln371Glu Single submitter ⚠
p.Gln452Lys Single submitter ⚠
p.Gln499His Single submitter ⚠
p.Gln94Lys Single submitter
p.Glu195Lys Single submitter ⚠
p.Glu219Lys Single submitter ⚠
p.Glu278Lys Single submitter ⚠
p.Glu288Lys Single submitter ⚠
p.Glu376Gly Single submitter ⚠
p.Glu376Lys Single submitter ⚠
p.Gly324Arg Single submitter ⚠
p.Gly588Ser Single submitter ⚠
p.His283Arg Single submitter ⚠
p.His351Pro Single submitter ⚠
p.Ile273Thr Single submitter ⚠
p.Ile519Val Single submitter ⚠
p.Leu184Phe Single submitter ⚠
p.Leu229Phe Single submitter ⚠
p.Leu239Phe Single submitter ⚠
p.Leu599Phe Single submitter ⚠
p.Lys199Thr Single submitter ⚠
p.Lys206Asn Single submitter ⚠
p.Lys47Arg Single submitter ⚠
p.Lys554Arg Single submitter ⚠
p.Lys601Arg Single submitter ⚠
p.Lys67Arg Single submitter ⚠
p.Lys8Glu Single submitter ⚠
p.Met135Val Single submitter ⚠
p.Phe512Cys Single submitter ⚠
p.Phe529Cys Single submitter ⚠
p.Pro304Arg Single submitter ⚠
p.Pro431Leu Single submitter ⚠
p.Pro482Arg Single submitter ⚠
p.Pro483Ser Single submitter ⚠
p.Pro53Ala Single submitter ⚠
p.Pro558Leu Single submitter ⚠
p.Pro591Arg Single submitter ⚠
p.Pro593Ala Single submitter ⚠
p.Ser152Phe Single submitter ⚠
p.Ser166Asn Single submitter ⚠
p.Ser212Gly Single submitter ⚠
p.Ser316Asn Single submitter ⚠
p.Ser404Arg Single submitter ⚠
p.Ser422Cys Single submitter ⚠
p.Ser523Phe Single submitter ⚠
p.Ser592Phe Single submitter ⚠
p.Ser638Gly Single submitter ⚠
p.Ser81Ala Single submitter ⚠
p.Thr322Ile Single submitter ⚠
p.Thr331Ala Single submitter ⚠
p.Thr358Ile Single submitter ⚠
p.Thr590Ala Single submitter ⚠
p.Thr600Ser Single submitter ⚠
p.Thr610Ile Single submitter ⚠
p.Tyr451Asn Single submitter ⚠
p.Val183Met Single submitter ⚠
p.Val368Leu Single submitter ⚠
p.Val372Leu Single submitter ⚠
p.Val394Leu Single submitter ⚠