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
FAM111A
(HGNC:24725)
 Strong Strong Moderate Moderate Moderate Strong
MOGS
(HGNC:24862)
 Moderate Strong Moderate Moderate Strong Strong
CSNK2A1
(HGNC:2457)
 Strong Strong Moderate Strong Strong Strong
FAM83H
(HGNC:24797)
 Strong Strong Moderate Strong Strong Strong
NPRL2
(HGNC:24969)
 Moderate Strong Weak Weak Moderate Strong
FLVCR1
(HGNC:24682)
 Strong Moderate Moderate Strong Strong Strong
LARP7
(HGNC:24912)
 Strong Strong Moderate Strong Strong Strong
ZC4H2
(HGNC:24931)
 Strong Strong Moderate Moderate Strong Strong
FIGLA
(HGNC:24669)
 Strong Strong Moderate Moderate Strong Strong
NHLRC2
(HGNC:24731)
 Moderate Moderate Moderate Strong Strong Moderate
FLAD1
(HGNC:24671)
 Moderate Strong Weak Moderate Strong Strong
EHMT1
(HGNC:24650)
 Moderate Moderate Moderate Strong Strong Strong
CFHR5
(HGNC:24668)
 Moderate Moderate Weak Moderate Moderate Moderate
VCAN
(HGNC:2464)
 Strong Strong Moderate Strong Moderate Strong
SIL1
(HGNC:24624)
 Strong Strong Moderate Strong Strong Strong
KANSL1
(HGNC:24565)
 Moderate Moderate Moderate Moderate Moderate Moderate
WDR62
(HGNC:24502)
 Strong Strong Moderate Strong Strong Strong
CHMP2B
(HGNC:24537)
 Moderate Moderate Strong Strong Moderate Moderate
POC1A
(HGNC:24488)
 Moderate Strong Moderate Strong Moderate Moderate
CHST14
(HGNC:24464)
 Strong Strong Moderate Strong Strong Strong
Showing 1381–1400 of 2035