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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
YARS2
(HGNC:24249)
 Moderate Moderate Moderate Strong Strong Strong
DRC1
(HGNC:24245)
 Moderate Moderate Strong Strong Strong Strong
BMPER
(HGNC:24154)
 Weak Moderate Strong Weak Strong Strong
CRYGD
(HGNC:2411)
 Weak Moderate Strong Strong Strong Strong
CRYBB1
(HGNC:2397)
 Weak Moderate Weak Strong Weak Strong
ASXL2
(HGNC:23805)
 Strong Moderate Strong Weak Moderate Strong
BRCC3
(HGNC:24185)
 Moderate Weak Weak Weak Weak Strong
ABAT
(HGNC:23)
 Weak Moderate Strong Weak Strong Strong
CRYBB2
(HGNC:2398)
 Strong Weak Strong Strong Moderate Moderate
PACS2
(HGNC:23794)
 Strong Moderate Strong Moderate Strong Moderate
SLX4
(HGNC:23845)
 Weak Weak Moderate Weak Weak Weak
SKIC3
(HGNC:23639)
 Moderate Moderate Strong Moderate Strong Strong
CRTAP
(HGNC:2379)
 Moderate Moderate Strong Weak Strong Strong
PGAP3
(HGNC:23719)
 Moderate Strong Strong Strong Strong Strong
CRK
(HGNC:2362)
 Moderate Weak Weak Weak Weak Moderate
CRLF1
(HGNC:2364)
 Moderate Strong Strong Strong Strong Strong
MORC2
(HGNC:23573)
 Moderate Weak Strong Strong Strong Moderate
MED23
(HGNC:2372)
 Weak Moderate Strong Moderate Strong Strong
DHTKD1
(HGNC:23537)
 Weak Weak Weak Weak Moderate Moderate
VPS13D
(HGNC:23595)
 Weak Weak Moderate Strong Strong Strong
Showing 741–760 of 1365