CTD-2194D22.4

Chr 5AR

IRX4 divergent transcript

Also known as: CTD-2194D22.4

NCBI Gene: 101929081ENSG00000249326

Primary Disease Associations & Inheritance

Congenital cataracts, facial dysmorphism, and neuropathyMIM #604168
AR
0
Active trials
52
Pathogenic / LP
56
ClinVar variants
0
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— CTD-2194D22.4
📋
ClinVar Variants
52 Pathogenic / Likely Pathogenic· 3 VUS of 56 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

56 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic52
VUS3
Likely Benign1
52
Pathogenic
3
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————52
Likely Pathogenic
————0
VUS
————3
Likely Benign
————1
Benign
————0
Total—56

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

CTD-2194D22.4 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 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