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
SUZ12
(HGNC:17101)
 Weak Weak Moderate Strong Weak Moderate
CDON
(HGNC:17104)
 Weak Weak Weak Moderate Weak Strong
TAB2
(HGNC:17075)
 Moderate Moderate Strong Strong Strong Strong
CD3D
(HGNC:1673)
 Weak Moderate Moderate Strong Strong Strong
PUF60
(HGNC:17042)
 Strong Moderate Strong Strong Strong Strong
NCSTN
(HGNC:17091)
 Moderate Moderate Strong Strong Strong Strong
RAB39B
(HGNC:16499)
 Moderate Weak Moderate Strong Moderate Strong
TRIOBP
(HGNC:17009)
 Weak Moderate Moderate Strong Moderate Strong
PRICKLE1
(HGNC:17019)
 Weak Weak Weak Weak Weak Weak
KIF1B
(HGNC:16636)
 Weak Weak Weak Weak Weak Weak
BSND
(HGNC:16512)
 Moderate Moderate Strong Moderate Strong Strong
MCEE
(HGNC:16732)
 Strong Weak Strong Weak Strong Strong
SRCAP
(HGNC:16974)
 Strong Moderate Strong Strong Strong Strong
HAX1
(HGNC:16915)
 Moderate Moderate Moderate Strong Strong Strong
STAMBP
(HGNC:16950)
 Weak Moderate Strong Strong Strong Strong
SPEG
(HGNC:16901)
 Weak Moderate Moderate Weak Strong Strong
CD59
(HGNC:1689)
 Weak Weak Strong Moderate Moderate Strong
HCN4
(HGNC:16882)
 Moderate Weak Moderate Strong Strong Moderate
FIG4
(HGNC:16873)
 Moderate Weak Weak Strong Weak Moderate
LITAF
(HGNC:16841)
 Moderate Moderate Weak Strong Strong Strong
Showing 1001–1020 of 1365