PKD2L2-DT

Chr 5

PKD2L2 divergent transcript

NCBI Gene: 101928005ENSG00000250159
405
ClinVar variants
13
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PKD2L2-DT
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 252 VUS of 405 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

405 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic8
VUS252
Likely Benign113
Benign21
Conflicting6
5
Pathogenic
8
Likely Pathogenic
252
VUS
113
Likely Benign
21
Benign
6
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
2
3
0
5
Likely Pathogenic
2
3
3
0
8
VUS
15
209
23
5
252
Likely Benign
1
1
41
70
113
Benign
0
0
21
0
21
Conflicting
—6
Total182159175405

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

View in ClinVar →

Protein Context — Lollipop Plot

PKD2L2-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 PKD2L2-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