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
TRIT1
(HGNC:20286)
 Moderate Strong Moderate Strong Strong Strong
CLCN4
(HGNC:2022)
 Moderate Moderate Weak Weak Strong Moderate
DNAAF2
(HGNC:20188)
 Strong Strong Moderate Strong Strong Strong
GLRX5
(HGNC:20134)
 Moderate Moderate Weak Moderate Strong Moderate
ADSS1
(HGNC:20093)
 Strong Strong Moderate Weak Strong Strong
AK7
(HGNC:20091)
 Moderate Strong Moderate Weak Strong Strong
CYCS
(HGNC:19986)
 Strong Strong Moderate Strong Strong Strong
CCDC88C
(HGNC:19967)
 Moderate Moderate Moderate Strong Moderate Moderate
TECPR2
(HGNC:19957)
 Moderate Moderate Moderate Moderate Strong Strong
NOL6
(HGNC:19910)
 Strong Moderate Moderate Weak Strong Strong
VSX2
(HGNC:1975)
 Strong Moderate Moderate Strong Strong Strong
WEE2
(HGNC:19684)
 Strong Strong Moderate Weak Strong Strong
CHRNB1
(HGNC:1961)
 Moderate Strong Weak Weak Moderate Strong
ADAM17
(HGNC:195)
 Strong Strong Moderate Weak Strong Strong
KANK1
(HGNC:19309)
 Weak Weak Weak Weak Weak Weak
CSMD3
(HGNC:19291)
 Weak Weak Weak Weak Weak Weak
MTO1
(HGNC:19261)
 Moderate Moderate Moderate Moderate Strong Strong
TBC1D4
(HGNC:19165)
 Weak Moderate Moderate Weak Moderate Moderate
THOC2
(HGNC:19073)
 Moderate Moderate Moderate Weak Strong Moderate
KCNT2
(HGNC:18866)
 Moderate Moderate Moderate Weak Strong Moderate
Showing 361–380 of 2035