Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

Back to Open Access Summaries
Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us

Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
RPL3L
(HGNC:10351)
 Moderate Weak Moderate Weak Moderate Strong
BCS1L
(HGNC:1020)
 Moderate Moderate Strong Strong Strong Strong
RHAG
(HGNC:10006)
 Moderate Weak Moderate Strong Weak Moderate
RLBP1
(HGNC:10024)
 Moderate Moderate Strong Strong Strong Strong
RIPK1
(HGNC:10019)
 Weak Weak Moderate Moderate Weak Weak
Showing 1361–1365 of 1365