TMEM269

Chr 1

transmembrane protein 269

NCBI Gene: 100129924ENSG00000274386UniProt: A0A1B0GVZ9

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

9
ClinVar variants
6
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— TMEM269
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 3 VUS of 9 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

9 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic2
VUS3
4
Pathogenic
2
Likely Pathogenic
3
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
2
0
2
VUS
0
3
0
0
3
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total03609

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMEM269 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for TMEM269

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools