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
TNPO3
(HGNC:17103)
 Strong Strong Moderate Moderate Strong Strong
SYNE2
(HGNC:17084)
 Moderate Moderate Moderate Moderate Weak Moderate
CD8A
(HGNC:1706)
 Moderate Strong Weak Weak Moderate Moderate
RAB3GAP1
(HGNC:17063)
 Strong Strong Moderate Strong Strong Strong
NIPA2
(HGNC:17044)
 Strong Moderate Weak Weak Moderate Moderate
HPS5
(HGNC:17022)
 Strong Strong Moderate Weak Strong Strong
CD81
(HGNC:1701)
 Moderate Strong Weak Weak Strong Strong
ZMYND11
(HGNC:16966)
 Moderate Strong Weak Moderate Strong Strong
ATG7
(HGNC:16935)
 Weak Weak Moderate Weak Weak Moderate
UBR5
(HGNC:16806)
 Moderate Strong Moderate Weak Moderate Moderate
SEMA6D
(HGNC:16770)
 Weak Weak Weak Weak Weak Weak
PRDX6
(HGNC:16753)
 Weak Weak Weak Weak Weak Weak
DNAAF11
(HGNC:16725)
 Moderate Strong Moderate Moderate Strong Strong
SCARB2
(HGNC:1665)
 Strong Strong Moderate Strong Strong Strong
SRRM2
(HGNC:16639)
 Moderate Moderate Moderate Weak Strong Moderate
DNAJC30
(HGNC:16410)
 Strong Moderate Moderate Moderate Strong Strong
ACTN1
(HGNC:163)
 Moderate Strong Moderate Moderate Strong Moderate
TRIM32
(HGNC:16380)
 Strong Strong Moderate Strong Strong Strong
ACTL7A
(HGNC:161)
 Strong Strong Moderate Weak Strong Strong
DUSP22
(HGNC:16077)
 Weak Weak Weak Weak Weak Weak
Showing 441–460 of 2035