FAM88D

Chr 9

family with sequence similarity 88 member D

19
ClinVar variants
19
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryFAM88D
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic of 19 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

19 submitted variants in ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic1
18
Pathogenic
1
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
18
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
0
Total19

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM88D · 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.