C17ORF78

Chr 17

chromosome 17 open reading frame 78

NCBI Gene: 284099ENSG00000278505UniProt: Q8N4C9

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

147
ClinVar variants
134
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— C17ORF78
📋
ClinVar Variants
134 Pathogenic / Likely Pathogenic· 13 VUS of 147 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

147 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic119
Likely Pathogenic15
VUS13
119
Pathogenic
15
Likely Pathogenic
13
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————119
Likely Pathogenic
————15
VUS
————13
Likely Benign
————0
Benign
————0
Total—147

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C17ORF78 · 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 C17ORF78

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