ROR1
Chr 1ARreceptor tyrosine kinase like orphan receptor 1
Also known as: NTRKR1, dJ537F10.1
The protein is a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system and is crucial for spiral ganglion neurons to innervate auditory hair cells in the inner ear. Mutations cause autosomal recessive deafness (deafness, autosomal recessive 108). The gene is highly constrained against loss-of-function variants (pLI = 0.996, LOEUF = 0.267), indicating that complete loss of protein function is likely pathogenic.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
318 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 | 0 | 0 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 2 | 175 | 11 | 0 | 188 |
Likely Benign | 0 | 3 | 9 | 43 | 55 |
Benign | 0 | 1 | 14 | 9 | 24 |
Conflicting | — | 1 | |||
| Total | 2 | 179 | 57 | 52 | 291 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ROR1 · 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