Heavy data lifting in progress
Aggregating evidence sources...
Heavy data lifting in progress
Aggregating evidence sources...
chromosome 9 open reading frame 40
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
47 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 34 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 7 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 45 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →C9ORF40 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
No OMIM entries found.
Links to major genomics databases and tools
No open access results found
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools