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
CSF2RB
(HGNC:2436)
 Strong Strong Moderate Weak Strong Strong
CSF2RA
(HGNC:2435)
 Strong Strong Moderate Moderate Strong Strong
BOLA3
(HGNC:24415)
 Strong Strong Moderate Moderate Strong Strong
PHF21A
(HGNC:24156)
 Strong Strong Moderate Moderate Strong Strong
CISD2
(HGNC:24212)
 Strong Strong Moderate Moderate Strong Strong
FAM111B
(HGNC:24200)
 Strong Moderate Moderate Strong Strong Moderate
ADCYAP1
(HGNC:241)
 Weak Weak Weak Weak Weak Weak
OTUD6B
(HGNC:24281)
 Strong Moderate Moderate Strong Strong Strong
ASCC1
(HGNC:24268)
 Strong Strong Moderate Weak Strong Strong
PTRH2
(HGNC:24265)
 Strong Strong Moderate Strong Strong Strong
YARS2
(HGNC:24249)
 Strong Strong Moderate Strong Strong Strong
DRC1
(HGNC:24245)
 Strong Moderate Moderate Strong Strong Strong
BMPER
(HGNC:24154)
 Moderate Strong Moderate Moderate Strong Strong
CRYGD
(HGNC:2411)
 Strong Strong Strong Strong Strong Strong
CRYBB1
(HGNC:2397)
 Strong Strong Moderate Moderate Moderate Strong
ASXL2
(HGNC:23805)
 Strong Strong Moderate Weak Strong Strong
BRCC3
(HGNC:24185)
 Moderate Moderate Moderate Weak Strong Moderate
ABAT
(HGNC:23)
 Moderate Strong Weak Weak Strong Strong
CRYBB2
(HGNC:2398)
 Strong Strong Moderate Strong Moderate Moderate
PACS2
(HGNC:23794)
 Strong Strong Moderate Moderate Strong Strong
Showing 1401–1420 of 2035