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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
SLC6A1
(HGNC:11042)
Weak Moderate Strong Strong Strong Strong
SLC16A1
(HGNC:10922)
Moderate Moderate Weak Moderate Weak Strong
SLC1A3
(HGNC:10941)
Moderate Weak Moderate Weak Strong Strong
SMPX
(HGNC:11122)
Moderate Moderate Moderate Strong Strong Strong
SLC18A2
(HGNC:10935)
Strong Moderate Strong Strong Strong Strong
SLCO2A1
(HGNC:10955)
Moderate Moderate Weak Strong Strong Strong
SLC12A6
(HGNC:10914)
Weak Weak Moderate Strong Strong Moderate
SLC12A2
(HGNC:10911)
Moderate Moderate Strong Weak Weak Moderate
SLC25A12
(HGNC:10982)
Weak Strong Strong Strong Strong Strong
SLC5A2
(HGNC:11037)
Moderate Moderate Moderate Strong Moderate Strong
SLC5A1
(HGNC:11036)
Moderate Moderate Strong Strong Strong Strong
SKIC2
(HGNC:10898)
Moderate Moderate Strong Strong Strong Strong
SLC4A4
(HGNC:11030)
Weak Moderate Strong Strong Moderate Strong
SLC34A2
(HGNC:11020)
Moderate Moderate Moderate Strong Strong Strong
SLC30A2
(HGNC:11013)
Weak Moderate Weak Strong Strong Strong
SLC27A4
(HGNC:10998)
Moderate Moderate Strong Strong Strong Strong
SLC26A2
(HGNC:10994)
Strong Moderate Strong Strong Strong Strong
SLC1A4
(HGNC:10942)
Weak Moderate Strong Strong Weak Moderate
SLC17A5
(HGNC:10933)
Moderate Moderate Strong Strong Strong Strong
SIX5
(HGNC:10891)
Weak Weak Strong Strong Weak Moderate
Showing 1301–1320 of 1365