FAM230B

Chr 22

family with sequence similarity 230 member B

NCBI Gene: 642633ENSG00000215498
58
ClinVar variants
50
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FAM230B
📋
ClinVar Variants
50 Pathogenic / Likely Pathogenic· 8 VUS of 58 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic49
Likely Pathogenic1
VUS8
49
Pathogenic
1
Likely Pathogenic
8
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————49
Likely Pathogenic
————1
VUS
————8
Likely Benign
————0
Benign
————0
Total—58

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM230B · 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
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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