CNDP1 — 92 ClinVar variants

All ClinVar germline CNDP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

5 Benign · 1 Benign/Likely benign · 14 Likely benign · 72 Uncertain significance

Full CNDP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 33

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

Predictors split 47

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

All CNDP1 variants

Benign 5

p.Ala355Thr Multiple submitters ⚠
p.Ile434Val Multiple submitters
p.Pro417Ser Multiple submitters ⚠
p.Val466Leu Multiple submitters
c.757-6_757-5del Single submitter

Benign/Likely benign 1

p.Ala238Val Multiple submitters

Likely benign 14

p.Ala179Thr Single submitter ⚠
p.Ala385Val Single submitter
p.Arg321Gln Single submitter ⚠
p.Arg368Gln Single submitter ⚠
p.Ile224Val Single submitter
p.Lys455Arg Single submitter
p.Met250Thr Single submitter
p.Met456Ile Single submitter
p.Pro28Ser Single submitter
p.Pro30Leu Single submitter ⚠
p.Ser323= Single submitter
p.Thr84Met Single submitter ⚠
p.Val461Ile Single submitter ⚠
p.Leu17fs No assertion criteria CNDP1-related disorder

Uncertain significance 72

p.Ala10Val Single submitter ⚠
p.Ala163Val Single submitter ⚠
p.Ala238Gly Single submitter ⚠
p.Ala33Glu Single submitter ⚠
p.Ala33Val Single submitter ⚠
p.Ala429Pro Single submitter ⚠
p.Ala79Val Single submitter ⚠
p.Ala82Thr Single submitter ⚠
p.Ala90Ser Single submitter ⚠
p.Arg140Trp Single submitter ⚠
p.Arg161Pro Single submitter ⚠
p.Arg216Gln Single submitter ⚠
p.Arg22His Single submitter ⚠
p.Arg244Gln Single submitter ⚠
p.Arg69His Single submitter ⚠
p.Arg76Gly Single submitter ⚠
p.Arg87Cys Single submitter ⚠
p.Arg91Cys Single submitter ⚠
p.Arg91Gly Single submitter ⚠
p.Asp104Asn Single submitter ⚠
p.Asp121Asn Single submitter ⚠
p.Asp142Tyr Single submitter ⚠
p.Asp147Glu Single submitter ⚠
p.Asp165Asn Single submitter ⚠
p.Asp332Asn Single submitter ⚠
p.Asp443Val Single submitter ⚠
p.Asp62Asn Single submitter ⚠
p.Gln40Arg Single submitter ⚠
p.Gln72Lys Single submitter ⚠
p.Glu336Gln Single submitter ⚠
p.Gly156Glu Single submitter ⚠
p.Gly371Arg Single submitter ⚠
p.His380Gln Single submitter ⚠
p.His416Tyr Single submitter ⚠
p.Ile224Leu Single submitter ⚠
p.Ile224Phe Single submitter ⚠
p.Ile232Phe Single submitter ⚠
p.Ile313Thr Single submitter ⚠
p.Ile422Thr Single submitter ⚠
p.Leu279Phe Single submitter ⚠
p.Leu377Val Single submitter ⚠
p.Leu467Pro Single submitter ⚠
p.Met24Ile Single submitter ⚠
p.Met273Val Single submitter ⚠
p.Met381Val Single submitter ⚠
p.Phe496Cys Single submitter ⚠
p.Pro122Leu Single submitter ⚠
p.Pro169Leu Single submitter ⚠
p.Pro28Thr Single submitter ⚠
p.Pro293Leu Single submitter ⚠
p.Pro31Leu Single submitter ⚠
p.Pro417Leu Single submitter ⚠
p.Ser61Arg Single submitter ⚠
p.Thr123Met Single submitter ⚠
p.Thr126Ile Single submitter ⚠
p.Thr152Met Single submitter ⚠
p.Thr333Ser Single submitter ⚠
p.Thr436Ile Single submitter ⚠
p.Thr450Ile Single submitter ⚠
p.Thr493Ala Single submitter ⚠
p.Trp342Ser Single submitter ⚠
p.Tyr149Cys Single submitter ⚠
p.Tyr296Asn Single submitter ⚠
p.Tyr41His Single submitter ⚠
p.Val127Met Single submitter ⚠
p.Val135Met Single submitter ⚠
p.Val204Ala Single submitter ⚠
p.Val225Ile Single submitter ⚠
p.Val300Phe Single submitter ⚠
p.Val465Met Single submitter ⚠
p.Val80Met Single submitter ⚠
p.Val95Glu Single submitter ⚠