FAM246B

Chr 22

family with sequence similarity 246 member B

NCBI Gene: 117134597ENSG00000286175UniProt: A0A494C0N9
158
ClinVar variants
144
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FAM246B
📋
ClinVar Variants
144 Pathogenic / Likely Pathogenic· 8 VUS of 158 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

158 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic144
VUS8
Likely Benign6
144
Pathogenic
8
VUS
6
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————144
Likely Pathogenic
————0
VUS
————8
Likely Benign
————6
Benign
————0
Total—158

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM246B · 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 FAM246B

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