LAMP2 c.(?_1094
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- LAMP2
- Coding
- c.(?_1094
- MANE Select
- NM_002294 · reported on NM_001122606
- Type
- Deletion
- Location
- chrX:None (GRCh38)
- Structure
- AlphaFold pLDDT 83.54 · 2 PDB
Similar variants
- LAMP2 c.864+3_864+6del Pathogenic/Likely pathogenic ★★ same type
- LAMP2 p.Leu325fs Pathogenic ★★ same type
- LAMP2 p.Phe284fs Pathogenic ★★ same type
- LAMP2 p.Ser155fs Likely pathogenic ★★ same type
- LAMP2 p.Thr211fs Pathogenic ★★ same type
- LAMP2 c.742-7_742-5del Benign/Likely benign ★★ same type
- LAMP2 c.865-8del Benign/Likely benign ★★ same type
- LAMP2 c.183_183+4del Likely pathogenic ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/lamp2-c-1094 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown