MFF-DT

Chr 2

MFF divergent transcript

NCBI Gene: 654841ENSG00000236432
370
ClinVar variants
96
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MFF-DT
📋
ClinVar Variants
96 Pathogenic / Likely Pathogenic· 224 VUS of 370 total submissions
Some data sources returned errors (2)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

370 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic78
VUS224
Likely Benign41
Benign1
Conflicting8
18
Pathogenic
78
Likely Pathogenic
224
VUS
41
Likely Benign
1
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
3
1
0
18
Likely Pathogenic
25
47
6
0
78
VUS
2
176
30
16
224
Likely Benign
0
5
26
10
41
Benign
0
0
0
1
1
Conflicting
—8
Total412316327370

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

View in ClinVar →

Protein Context — Lollipop Plot

MFF-DT · 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 MFF-DT

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