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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
HOGA1
(HGNC:25155)
 Moderate Strong Moderate Moderate Strong Strong
CTNND1
(HGNC:2515)
 Weak Weak Weak Weak Weak Moderate
ADAT3
(HGNC:25151)
 Moderate Moderate Strong Weak Strong Strong
LRSAM1
(HGNC:25135)
 Moderate Strong Moderate Strong Weak Moderate
CSTB
(HGNC:2482)
 Moderate Moderate Strong Strong Strong Strong
OTULIN
(HGNC:25118)
 Weak Weak Weak Weak Weak Strong
DOT1L
(HGNC:24948)
 Weak Weak Moderate Moderate Weak Moderate
CRYGC
(HGNC:2410)
 Weak Moderate Moderate Strong Strong Moderate
WWTR1
(HGNC:24042)
 Moderate Moderate Strong Weak Strong Strong
NECAP1
(HGNC:24539)
 Moderate Moderate Strong Moderate Strong Strong
FAM111A
(HGNC:24725)
 Moderate Moderate Moderate Weak Moderate Moderate
MOGS
(HGNC:24862)
 Moderate Moderate Strong Moderate Strong Strong
CSNK2A1
(HGNC:2457)
 Moderate Moderate Moderate Strong Strong Moderate
FAM83H
(HGNC:24797)
 Moderate Strong Strong Strong Strong Strong
NPRL2
(HGNC:24969)
 Moderate Weak Moderate Weak Strong Strong
FLVCR1
(HGNC:24682)
 Moderate Moderate Strong Strong Strong Strong
LARP7
(HGNC:24912)
 Strong Moderate Moderate Strong Strong Strong
ZC4H2
(HGNC:24931)
 Moderate Moderate Moderate Moderate Strong Strong
FIGLA
(HGNC:24669)
 Moderate Moderate Moderate Strong Moderate Strong
NHLRC2
(HGNC:24731)
 Weak Weak Strong Strong Strong Strong
Showing 701–720 of 1365