SLIT2
Chr 4slit guidance ligand 2
Also known as: SLIL3, Slit-2
This gene encodes SLIT2, a secreted glycoprotein that functions as a molecular guidance cue for axonal navigation and neuronal migration during brain and spinal cord development, particularly at the ventral midline. Mutations cause autosomal dominant congenital diaphragmatic hernia and other developmental anomalies. The gene is highly constrained against loss-of-function variants, indicating mutations are likely to have significant clinical consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 233 | 5 | 3 | 241 |
Likely Benign | 0 | 2 | 46 | 71 | 119 |
Benign | 0 | 0 | 5 | 1 | 6 |
Conflicting | — | 3 | |||
| Total | 0 | 235 | 65 | 75 | 378 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLIT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools