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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
VPS16
(HGNC:14584)
 Weak Weak Moderate Weak Weak Moderate
CDHR1
(HGNC:14550)
 Weak Moderate Strong Strong Strong Strong
VPS45
(HGNC:14579)
 Weak Weak Strong Weak Strong Moderate
BAALC
(HGNC:14333)
 Weak Weak Weak Weak Weak Weak
CALM1
(HGNC:1442)
 Moderate Weak Moderate Strong Strong Strong
CALM3
(HGNC:1449)
 Weak Moderate Moderate Weak Strong Strong
CALM2
(HGNC:1445)
 Weak Weak Strong Weak Strong Strong
LPIN2
(HGNC:14450)
 Weak Weak Weak Strong Strong Strong
CRIPT
(HGNC:14312)
 Weak Moderate Strong Weak Strong Strong
ELOVL4
(HGNC:14415)
 Moderate Weak Weak Strong Strong Strong
SLC25A19
(HGNC:14409)
 Moderate Weak Strong Strong Strong Strong
GP6
(HGNC:14388)
 Weak Weak Weak Weak Weak Weak
GLMN
(HGNC:14373)
 Moderate Moderate Moderate Weak Strong Strong
EDARADD
(HGNC:14341)
 Weak Moderate Moderate Strong Weak Moderate
SCYL1
(HGNC:14372)
 Moderate Moderate Strong Strong Strong Strong
SHANK2
(HGNC:14295)
 Weak Moderate Weak Moderate Strong Moderate
CRLF2
(HGNC:14281)
 Weak Weak Weak Weak Weak Weak
NLGN4X
(HGNC:14287)
 Weak Moderate Weak Moderate Strong Moderate
IRF2BPL
(HGNC:14282)
 Strong Weak Moderate Strong Strong Strong
SLC25A20
(HGNC:1421)
 Moderate Strong Strong Moderate Strong Strong
Showing 1101–1120 of 1365