NPHP4
Chr 1ARnephrocystin 4
Also known as: POC10, SLSN4
The protein organizes apical junctions and is required for building functional cilia, playing critical roles in renal tubular development and function. Mutations cause nephronophthisis type 4 (a renal cystic disease) and Senior-Loken syndrome type 4 (nephronophthisis combined with retinitis pigmentosa), affecting both kidney and retinal function. The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 6 | 0 | 13 | 0 | 19 |
Likely Pathogenic | 22 | 1 | 13 | 0 | 36 |
VUS | 2 | 167 | 17 | 5 | 191 |
Likely Benign | 0 | 4 | 49 | 68 | 121 |
Benign | 0 | 0 | 5 | 0 | 5 |
Conflicting | — | 2 | |||
| Total | 30 | 172 | 97 | 73 | 374 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NPHP4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools