NECTIN2 — 38 ClinVar variants
All ClinVar germline NECTIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
9 Benign · 22 Likely benign · 7 Uncertain significance
Full NECTIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
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NECTIN2 p.Tyr454Cys
Uncertain significance
Single submitter
NECTIN2-related disorder
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NECTIN2 p.Arg222Cys
Likely benign
No assertion criteria
NECTIN2-related disorder
All NECTIN2 variants
Benign 9
- p.Arg286His Multiple submitters
- p.Asp122= Multiple submitters
- p.Glu401Gln Multiple submitters
- c.1042+3795G>A Single submitter
- p.Ala355Thr Single submitter
- p.Asp176His Single submitter
- p.Leu467= Single submitter
- c.1261-9C>T No assertion criteria NECTIN2-related disorder
- p.Thr172= No assertion criteria NECTIN2-related disorder
Likely benign 22
- c.1043-3792G>A Single submitter
- p.Leu274= Single submitter
- c.1042+3797G>T No assertion criteria NECTIN2-related disorder
- c.1042+3863GAG[5] No assertion criteria NECTIN2-related disorder
- c.1043-3719GAG[5] No assertion criteria NECTIN2-related disorder
- c.1043-3840_1043-3829dup No assertion criteria NECTIN2-related disorder
- c.1043-3861G>A No assertion criteria NECTIN2-related disorder
- c.479-16CTC[2] No assertion criteria NECTIN2-related disorder
- c.89-10C>T No assertion criteria NECTIN2-related disorder
- p.Ala214= No assertion criteria NECTIN2-related disorder
- p.Arg222Cys No assertion criteria NECTIN2-related disorder ⚠
- p.Gln121= No assertion criteria NECTIN2-related disorder
- p.Phe440= No assertion criteria NECTIN2-related disorder
- p.Pro304= No assertion criteria NECTIN2-related disorder
- p.Pro404Leu No assertion criteria NECTIN2-related disorder
- p.Pro53= No assertion criteria NECTIN2-related disorder
- p.Pro96= No assertion criteria NECTIN2-related disorder
- p.Ser306= No assertion criteria NECTIN2-related disorder
- p.Ser430= No assertion criteria NECTIN2-related disorder
- p.Thr124= No assertion criteria NECTIN2-related disorder
- p.Thr178Met No assertion criteria NECTIN2-related disorder
- p.Thr49= No assertion criteria NECTIN2-related disorder
Uncertain significance 7
- p.Arg43Ter Single submitter cerebral palsy
- p.Asn351fs Single submitter
- p.Gly47Arg Single submitter ⚠
- p.Thr472Ile Single submitter ⚠
- p.Tyr454Cys Single submitter NECTIN2-related disorder ⚠
- p.Val42Met Single submitter
- p.Thr390Met No assertion criteria NECTIN2-related disorder ⚠