MAB21L1
Chr 13ARmab-21 like 1
Also known as: CAGR1, COFG, Nbla00126
MAB21L1 encodes a putative nucleotidyltransferase that binds single-stranded RNA and is required for normal embryonic development of the eye and other structures. Biallelic mutations cause cerebellar, ocular, craniofacial, and genital syndrome, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.628), consistent with its role in multiple developmental processes.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
106 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 | 4 | 2 | 51 | 0 | 57 |
Likely Pathogenic | 1 | 1 | 3 | 0 | 5 |
VUS | 0 | 34 | 3 | 0 | 37 |
Likely Benign | 0 | 1 | 0 | 5 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 5 | 38 | 57 | 5 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MAB21L1 · 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