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
SOX18
(HGNC:11194)
 Strong Moderate Moderate Moderate Strong Strong
SORD
(HGNC:11184)
 Strong Strong Moderate Strong Strong Strong
SOX11
(HGNC:11191)
 Moderate Moderate Moderate Moderate Strong Moderate
SNTA1
(HGNC:11167)
 Moderate Strong Moderate Moderate Moderate Moderate
SLC25A4
(HGNC:10990)
 Moderate Moderate Moderate Moderate Moderate Strong
SLC9A6
(HGNC:11079)
 Strong Strong Moderate Strong Strong Strong
SMARCAL1
(HGNC:11102)
 Moderate Moderate Moderate Strong Strong Strong
SNAP29
(HGNC:11133)
 Strong Moderate Moderate Strong Strong Strong
SMARCE1
(HGNC:11109)
 Strong Moderate Moderate Weak Moderate Strong
SLC34A1
(HGNC:11019)
 Weak Weak Moderate Strong Weak Moderate
SLC6A1
(HGNC:11042)
 Weak Moderate Strong Strong Strong Strong
SLC16A1
(HGNC:10922)
 Strong Strong Moderate Moderate Moderate Strong
SLC1A3
(HGNC:10941)
 Moderate Moderate Moderate Moderate Moderate Moderate
SMPX
(HGNC:11122)
 Strong Strong Moderate Strong Strong Strong
SLC18A2
(HGNC:10935)
 Strong Strong Moderate Strong Strong Strong
SLCO2A1
(HGNC:10955)
 Moderate Moderate Weak Strong Strong Strong
SLC12A6
(HGNC:10914)
 Moderate Moderate Moderate Strong Moderate Strong
SLC12A2
(HGNC:10911)
 Strong Moderate Moderate Weak Moderate Strong
SLC25A12
(HGNC:10982)
 Moderate Strong Moderate Moderate Strong Strong
SLC5A2
(HGNC:11037)
 Strong Strong Moderate Strong Moderate Strong
Showing 1961–1980 of 2035