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
SLX4
(HGNC:23845)
 Weak Weak Moderate Weak Weak Weak
SKIC3
(HGNC:23639)
 Strong Strong Moderate Strong Strong Strong
CRTAP
(HGNC:2379)
 Strong Strong Moderate Moderate Strong Strong
PGAP3
(HGNC:23719)
 Strong Strong Moderate Strong Strong Strong
CRK
(HGNC:2362)
 Moderate Moderate Weak Weak Moderate Moderate
CRLF1
(HGNC:2364)
 Strong Moderate Moderate Strong Strong Strong
MORC2
(HGNC:23573)
 Strong Moderate Moderate Moderate Strong Moderate
MED23
(HGNC:2372)
 Moderate Strong Moderate Moderate Strong Moderate
DHTKD1
(HGNC:23537)
 Moderate Moderate Moderate Moderate Moderate Moderate
VPS13D
(HGNC:23595)
 Strong Strong Moderate Strong Strong Strong
ADCY3
(HGNC:234)
 Strong Strong Moderate Strong Moderate Strong
DOLK
(HGNC:23406)
 Strong Moderate Moderate Moderate Strong Strong
CREM
(HGNC:2352)
 Weak Weak Weak Weak Weak Weak
MYPN
(HGNC:23246)
 Moderate Moderate Weak Strong Moderate Moderate
UBA5
(HGNC:23230)
 Strong Moderate Moderate Strong Strong Strong
ACBD5
(HGNC:23338)
 Strong Strong Moderate Weak Strong Strong
FREM1
(HGNC:23399)
 Strong Moderate Moderate Moderate Strong Strong
ETHE1
(HGNC:23287)
 Strong Strong Moderate Strong Strong Strong
PNPT1
(HGNC:23166)
 Strong Moderate Moderate Strong Moderate Strong
PIGO
(HGNC:23215)
 Moderate Strong Moderate Moderate Strong Strong
Showing 1421–1440 of 2035