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
IRAK4
(HGNC:17967)
 Strong Moderate Strong Moderate Strong Strong
EXOSC3
(HGNC:17944)
 Moderate Moderate Strong Moderate Strong Strong
NT5C3A
(HGNC:17820)
 Weak Moderate Strong Strong Strong Strong
PGAP2
(HGNC:17893)
 Weak Moderate Moderate Strong Strong Strong
NMNAT1
(HGNC:17877)
 Moderate Moderate Strong Strong Strong Strong
INVS
(HGNC:17870)
 Weak Weak Strong Moderate Moderate Strong
NGLY1
(HGNC:17646)
 Moderate Moderate Strong Strong Strong Strong
ACY1
(HGNC:177)
 Moderate Moderate Strong Weak Strong Strong
TDP2
(HGNC:17768)
 Moderate Strong Strong Moderate Strong Strong
CDH3
(HGNC:1762)
 Moderate Strong Strong Strong Strong Strong
DHX37
(HGNC:17210)
 Weak Weak Weak Weak Moderate Moderate
MTCH1
(HGNC:17586)
 Weak Moderate Strong Strong Strong Strong
CDH2
(HGNC:1759)
 Moderate Weak Moderate Moderate Weak Moderate
KAT6B
(HGNC:17582)
 Moderate Moderate Moderate Strong Strong Strong
UBR1
(HGNC:16808)
 Weak Moderate Strong Strong Strong Strong
CDC27
(HGNC:1728)
 Weak Weak Weak Weak Weak Moderate
RAB3GAP2
(HGNC:17168)
 Weak Moderate Strong Moderate Strong Strong
ACTN2
(HGNC:164)
 Moderate Weak Moderate Strong Strong Moderate
CD79A
(HGNC:1698)
 Strong Moderate Moderate Weak Moderate Strong
SPEN
(HGNC:17575)
 Weak Weak Weak Moderate Weak Weak
Showing 961–980 of 1365