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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
ADCY3
(HGNC:234)
 Weak Moderate Strong Strong Moderate Strong
DOLK
(HGNC:23406)
 Weak Weak Strong Strong Strong Strong
CREM
(HGNC:2352)
 Moderate Weak Weak Weak Strong Strong
MYPN
(HGNC:23246)
 Weak Weak Moderate Strong Weak Weak
UBA5
(HGNC:23230)
 Moderate Weak Weak Strong Weak Strong
ACBD5
(HGNC:23338)
 Moderate Moderate Strong Weak Strong Strong
FREM1
(HGNC:23399)
 Weak Weak Strong Moderate Moderate Strong
ETHE1
(HGNC:23287)
 Moderate Moderate Strong Strong Strong Strong
PNPT1
(HGNC:23166)
 Weak Weak Moderate Strong Moderate Moderate
PIGO
(HGNC:23215)
 Moderate Weak Strong Weak Strong Strong
ALG8
(HGNC:23161)
 Weak Weak Weak Weak Strong Strong
CPOX
(HGNC:2321)
 Moderate Moderate Moderate Strong Weak Strong
PIGW
(HGNC:23213)
 Weak Moderate Strong Weak Strong Moderate
FERMT3
(HGNC:23151)
 Moderate Moderate Strong Strong Strong Strong
SLC13A5
(HGNC:23089)
 Moderate Moderate Strong Moderate Strong Strong
FAT3
(HGNC:23112)
 Weak Weak Moderate Strong Weak Weak
ALG6
(HGNC:23157)
 Moderate Moderate Strong Strong Strong Strong
FAT4
(HGNC:23109)
 Weak Weak Moderate Strong Moderate Moderate
LMBRD1
(HGNC:23038)
 Moderate Moderate Strong Moderate Strong Strong
GNPTG
(HGNC:23026)
 Moderate Weak Moderate Strong Strong Strong
Showing 761–780 of 1365