TMEM217B

Chr 6

transmembrane protein 217B

NCBI Gene: 121725057ENSG00000286105UniProt: A0A494BZU4

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

37
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— TMEM217B
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 30 VUS of 37 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

37 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1
VUS30
Likely Benign3
Benign3
1
Pathogenic
30
VUS
3
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
0
0
0
0
0
VUS
1
29
0
0
30
Likely Benign
0
3
0
0
3
Benign
0
0
0
3
3
Total1321337

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

View in ClinVar →

Protein Context — Lollipop Plot

TMEM217B · 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 TMEM217B

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