Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

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Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
C19orf12
(HGNC:25443)
 Strong Strong Moderate Strong Moderate Strong
TRMU
(HGNC:25481)
 Moderate Moderate Moderate Moderate Strong Strong
FREM2
(HGNC:25396)
 Strong Strong Moderate Strong Strong Strong
CTSK
(HGNC:2536)
 Moderate Moderate Strong Strong Strong Strong
COQ9
(HGNC:25302)
 Strong Moderate Moderate Moderate Strong Strong
SLC30A10
(HGNC:25355)
 Strong Strong Moderate Strong Strong Strong
AHDC1
(HGNC:25230)
 Strong Strong Moderate Strong Strong Strong
CTSD
(HGNC:2529)
 Moderate Strong Moderate Strong Strong Strong
SLC25A46
(HGNC:25198)
 Strong Moderate Moderate Moderate Strong Strong
CTNND2
(HGNC:2516)
 Moderate Moderate Moderate Moderate Moderate Moderate
HOGA1
(HGNC:25155)
 Strong Strong Moderate Strong Strong Strong
CTNND1
(HGNC:2515)
 Strong Moderate Moderate Weak Strong Strong
ADAT3
(HGNC:25151)
 Strong Strong Moderate Strong Strong Strong
LRSAM1
(HGNC:25135)
 Strong Strong Moderate Strong Moderate Strong
CSTB
(HGNC:2482)
 Strong Moderate Moderate Strong Strong Strong
OTULIN
(HGNC:25118)
 Moderate Moderate Moderate Moderate Moderate Strong
DOT1L
(HGNC:24948)
 Moderate Weak Weak Moderate Moderate Moderate
CRYGC
(HGNC:2410)
 Strong Strong Strong Strong Strong Strong
WWTR1
(HGNC:24042)
 Weak Weak Weak Weak Weak Weak
NECAP1
(HGNC:24539)
 Strong Strong Moderate Moderate Strong Strong
Showing 1361–1380 of 2035