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
PNPO
(HGNC:30260)
 Moderate Moderate Strong Moderate Strong Strong
PREPL
(HGNC:30228)
 Weak Moderate Strong Moderate Strong Strong
SLC52A2
(HGNC:30224)
 Moderate Moderate Strong Strong Strong Strong
TUSC3
(HGNC:30242)
 Strong Moderate Strong Strong Strong Strong
SLC26A3
(HGNC:3018)
 Moderate Moderate Strong Strong Strong Strong
RFT1
(HGNC:30220)
 Strong Moderate Strong Weak Strong Strong
DPYS
(HGNC:3013)
 Moderate Weak Weak Weak Strong Strong
HSPB8
(HGNC:30171)
 Strong Weak Weak Moderate Strong Strong
PACS1
(HGNC:30032)
 Moderate Moderate Moderate Strong Strong Strong
NUP107
(HGNC:29914)
 Weak Weak Moderate Strong Strong Strong
DPP6
(HGNC:3010)
 Weak Weak Moderate Weak Weak Weak
DPAGT1
(HGNC:2995)
 Moderate Weak Moderate Strong Strong Strong
NUTM1
(HGNC:29919)
 Weak Moderate Strong Strong Strong Strong
DNM1L
(HGNC:2973)
 Moderate Moderate Strong Weak Weak Strong
DNM1
(HGNC:2972)
 Moderate Moderate Strong Strong Moderate Moderate
NFASC
(HGNC:29866)
 Weak Moderate Strong Weak Strong Strong
DOCK1
(HGNC:2987)
 Weak Weak Moderate Moderate Moderate Moderate
HECW2
(HGNC:29853)
 Moderate Moderate Moderate Moderate Weak Moderate
TOR1AIP1
(HGNC:29456)
 Weak Weak Moderate Weak Strong Strong
MSTO1
(HGNC:29678)
 Weak Moderate Strong Moderate Moderate Strong
Showing 521–540 of 1365