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MPV17L-BMERB1

Chr 16

MPV17L-BMERB1 readthrough

NCBI Gene: 127898555

I notice that no information about protein function, associated diseases, inheritance pattern, or other clinical details has been provided for the MPV17L-BMERB1 gene. Without this essential information, I cannot write an accurate clinical summary following the strict rules you've outlined. Could you please provide the relevant clinical and functional data for this gene?

Research
Clinical Summary— MPV17L-BMERB1
📋
ClinVar Variants
61 unique Pathogenic / Likely Pathogenic· 136 VUS of 224 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MPV17L-BMERB1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

224 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic54
Likely Pathogenic7
VUS136
Likely Benign6
Conflicting1
54
Pathogenic
7
Likely Pathogenic
136
VUS
6
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
54
0
54
Likely Pathogenic
0
0
7
0
7
VUS
1
45
90
0
136
Likely Benign
0
5
0
1
6
Benign
0
0
0
0
0
Conflicting
—1
Total1501511204

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

View in ClinVar →

Protein Context — Lollipop Plot

MPV17L-BMERB1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 2 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients