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
SDCCAG8
(HGNC:10671)
 Moderate Moderate Moderate Weak Strong Strong
CNNM4
(HGNC:105)
 Weak Moderate Strong Strong Strong Strong
SCO2
(HGNC:10604)
 Moderate Moderate Strong Strong Weak Moderate
SCN11A
(HGNC:10583)
 Moderate Weak Moderate Strong Strong Strong
SCNN1A
(HGNC:10599)
 Moderate Weak Moderate Strong Moderate Strong
RPS7
(HGNC:10440)
 Moderate Moderate Weak Weak Strong Strong
RPS6KA3
(HGNC:10432)
 Strong Moderate Strong Strong Strong Strong
SBF1
(HGNC:10542)
 Weak Moderate Strong Strong Weak Moderate
SCN3A
(HGNC:10590)
 Weak Weak Strong Weak Strong Moderate
ROBO1
(HGNC:10249)
 Weak Weak Moderate Weak Weak Moderate
SDC2
(HGNC:10659)
 Weak Weak Weak Weak Weak Weak
AIMP1
(HGNC:10648)
 Moderate Moderate Strong Strong Strong Strong
ATXN10
(HGNC:10549)
 Strong Weak Moderate Strong Strong Strong
OPN1SW
(HGNC:1012)
 Weak Moderate Moderate Moderate Strong Moderate
SC5D
(HGNC:10547)
 Weak Moderate Strong Weak Strong Strong
ROR2
(HGNC:10257)
 Moderate Weak Weak Strong Weak Strong
RYR3
(HGNC:10485)
 Weak Weak Weak Strong Weak Weak
RREB1
(HGNC:10449)
 Weak Weak Weak Weak Weak Weak
RNF7
(HGNC:10070)
 Weak Moderate Strong Strong Strong Strong
RPL5
(HGNC:10360)
 Moderate Weak Strong Weak Strong Strong
Showing 1341–1360 of 1365