FAM234B
Chr 12family with sequence similarity 234 member B
Also known as: KIAA1467
The FAM234B protein is predicted to localize to the Golgi apparatus, membrane, and microtubule organizing center, though its specific molecular function remains unclear. Mutations in this gene cause autosomal recessive developmental delay with seizures and microcephaly, representing a rare neurodevelopmental disorder with onset in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.499), consistent with its role in normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
151 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 | 43 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 70 | 5 | 0 | 75 |
Likely Benign | 0 | 6 | 0 | 7 | 13 |
Benign | 0 | 3 | 0 | 3 | 6 |
| Total | 0 | 79 | 50 | 10 | 139 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM234B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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