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
SLC5A1
(HGNC:11036)
 Strong Strong Moderate Strong Strong Strong
SKIC2
(HGNC:10898)
 Strong Strong Moderate Strong Strong Strong
SLC4A4
(HGNC:11030)
 Strong Strong Moderate Moderate Strong Strong
SLC34A2
(HGNC:11020)
 Strong Strong Moderate Strong Strong Strong
SLC30A2
(HGNC:11013)
 Moderate Strong Weak Moderate Moderate Strong
SLC27A4
(HGNC:10998)
 Strong Strong Moderate Strong Strong Strong
SLC26A2
(HGNC:10994)
 Strong Strong Moderate Strong Moderate Strong
SLC1A4
(HGNC:10942)
 Moderate Strong Moderate Strong Moderate Strong
SLC17A5
(HGNC:10933)
 Strong Strong Moderate Strong Strong Strong
SIX5
(HGNC:10891)
 Weak Weak Moderate Weak Moderate Weak
SLC11A2
(HGNC:10908)
 Moderate Strong Weak Weak Strong Strong
SIX3
(HGNC:10889)
 Moderate Strong Moderate Weak Strong Strong
DST
(HGNC:1090)
 Strong Moderate Moderate Strong Strong Strong
SLC10A1
(HGNC:10905)
 Moderate Strong Moderate Weak Strong Strong
PMEL
(HGNC:10880)
 Weak Weak Weak Weak Moderate Moderate
ST3GAL5
(HGNC:10872)
 Strong Strong Moderate Strong Strong Strong
STIL
(HGNC:10879)
 Strong Strong Moderate Moderate Strong Strong
SH3BP2
(HGNC:10825)
 Strong Strong Moderate Strong Strong Strong
SGPL1
(HGNC:10817)
 Strong Moderate Moderate Strong Strong Strong
SGSH
(HGNC:10818)
 Strong Moderate Strong Strong Strong Strong
Showing 1981–2000 of 2035