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
P4HTM
(HGNC:28858)
 Weak Moderate Strong Moderate Strong Strong
SYCE1
(HGNC:28852)
 Moderate Weak Strong Strong Strong Strong
B3GALNT2
(HGNC:28596)
 Weak Weak Strong Moderate Strong Strong
DHCR24
(HGNC:2859)
 Moderate Moderate Strong Weak Strong Strong
DIAPH1
(HGNC:2876)
 Strong Weak Strong Strong Weak Strong
ILDR1
(HGNC:28741)
 Moderate Moderate Strong Strong Strong Strong
DIS3L2
(HGNC:28648)
 Strong Moderate Strong Moderate Strong Strong
NDUFAF6
(HGNC:28625)
 Moderate Moderate Strong Moderate Strong Strong
RICTOR
(HGNC:28611)
 Moderate Weak Weak Weak Weak Moderate
DGKE
(HGNC:2852)
 Moderate Weak Moderate Strong Strong Strong
MFSD8
(HGNC:28486)
 Moderate Moderate Strong Strong Strong Strong
TRMT10A
(HGNC:28403)
 Moderate Moderate Strong Strong Strong Strong
TMEM43
(HGNC:28472)
 Weak Weak Strong Weak Strong Moderate
TBCK
(HGNC:28261)
 Weak Moderate Strong Strong Strong Strong
THOC6
(HGNC:28369)
 Moderate Moderate Strong Strong Strong Strong
DGAT1
(HGNC:2843)
 Weak Moderate Strong Strong Strong Strong
CCNQ
(HGNC:28434)
 Moderate Moderate Moderate Weak Strong Strong
D2HGDH
(HGNC:28358)
 Weak Weak Weak Weak Moderate Strong
NIPAL4
(HGNC:28018)
 Weak Moderate Strong Moderate Strong Strong
GSDME
(HGNC:2810)
 Strong Strong Strong Moderate Strong Strong
Showing 601–620 of 1365