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
MCM8
(HGNC:16147)
 Weak Moderate Moderate Strong Strong Strong
DNAJC5
(HGNC:16235)
 Moderate Moderate Strong Weak Strong Moderate
SLC52A3
(HGNC:16187)
 Moderate Moderate Strong Strong Strong Strong
CADPS2
(HGNC:16018)
 Weak Weak Weak Weak Weak Moderate
MPLKIP
(HGNC:16002)
 Weak Moderate Strong Strong Strong Strong
STRC
(HGNC:16035)
 Moderate Moderate Strong Strong Strong Strong
APTX
(HGNC:15984)
 Moderate Strong Strong Strong Strong Strong
RP1L1
(HGNC:15946)
 Weak Moderate Moderate Strong Moderate Moderate
SELENON
(HGNC:15999)
 Weak Weak Strong Strong Strong Strong
TOE1
(HGNC:15954)
 Moderate Moderate Strong Moderate Strong Strong
SALL4
(HGNC:15924)
 Weak Weak Strong Strong Moderate Strong
MYH7B
(HGNC:15906)
 Strong Weak Moderate Strong Weak Moderate
ABHD12
(HGNC:15868)
 Moderate Strong Strong Strong Strong Strong
PRPF6
(HGNC:15860)
 Moderate Weak Weak Moderate Strong Moderate
RBCK1
(HGNC:15864)
 Strong Weak Strong Strong Strong Strong
HPS4
(HGNC:15844)
 Weak Moderate Strong Strong Strong Strong
CCNC
(HGNC:1581)
 Weak Weak Moderate Strong Weak Weak
OBSCN
(HGNC:15719)
 Weak Moderate Moderate Strong Strong Moderate
CCND3
(HGNC:1585)
 Weak Weak Weak Strong Weak Moderate
PHIP
(HGNC:15673)
 Weak Weak Moderate Weak Strong Moderate
Showing 1041–1060 of 1365