KLHDC7B-DT

Chr 22

KLHDC7B divergent transcript

I cannot provide a clinical summary for KLHDC7B-DT as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions. Without specific clinical and functional data, I cannot write an accurate summary that meets the strict requirements to use only the information provided.

Research

ResearchGenerating clinical summary…

Clinical Summary— KLHDC7B-DT

📋

ClinVar Variants

44 VUS of 57 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

57 submitted variants in ClinVar

ClinVar

Classification Summary

VUS44

Likely Benign13

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	44	0	44
Likely Benign	7	6	13
Benign	0	0	0
Total	51	6	57

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

View in ClinVar →

66 pathogenic / likely-pathogenic (of 72) ClinVar copy-number / structural variants overlap KLHDC7B-DT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →