TBC1D22A-DT

Chr 22

TBC1D22A divergent transcript

46
ClinVar variants
38
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTBC1D22A-DT
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic· 6 VUS of 46 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

46 submitted variants in ClinVar

Classification Summary

Pathogenic38
VUS6
Likely Benign1
Benign1
38
Pathogenic
6
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
38
Likely Pathogenic
0
VUS
6
Likely Benign
1
Benign
1
Total46

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TBC1D22A-DT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for TBC1D22A-DT

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →