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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
FLAD1
(HGNC:24671)
 Moderate Moderate Moderate Moderate Strong Strong
EHMT1
(HGNC:24650)
 Moderate Moderate Moderate Strong Strong Strong
CFHR5
(HGNC:24668)
 Weak Moderate Weak Moderate Strong Moderate
VCAN
(HGNC:2464)
 Strong Strong Strong Strong Moderate Strong
SIL1
(HGNC:24624)
 Moderate Moderate Strong Strong Strong Strong
KANSL1
(HGNC:24565)
 Moderate Weak Weak Weak Moderate Strong
WDR62
(HGNC:24502)
 Weak Moderate Strong Strong Strong Strong
CHMP2B
(HGNC:24537)
 Strong Moderate Strong Strong Moderate Moderate
POC1A
(HGNC:24488)
 Moderate Moderate Strong Strong Strong Strong
CHST14
(HGNC:24464)
 Weak Moderate Strong Strong Strong Strong
CSF2RB
(HGNC:2436)
 Weak Moderate Strong Weak Moderate Moderate
CSF2RA
(HGNC:2435)
 Weak Moderate Weak Moderate Strong Strong
BOLA3
(HGNC:24415)
 Moderate Moderate Strong Moderate Strong Strong
PHF21A
(HGNC:24156)
 Moderate Moderate Strong Weak Strong Strong
CISD2
(HGNC:24212)
 Moderate Moderate Strong Strong Strong Strong
FAM111B
(HGNC:24200)
 Moderate Moderate Strong Strong Strong Moderate
ADCYAP1
(HGNC:241)
 Weak Moderate Moderate Strong Strong Moderate
OTUD6B
(HGNC:24281)
 Moderate Moderate Strong Strong Strong Strong
ASCC1
(HGNC:24268)
 Moderate Moderate Strong Weak Strong Strong
PTRH2
(HGNC:24265)
 Moderate Moderate Strong Strong Strong Strong
Showing 721–740 of 1365