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
SYK
(HGNC:11491)
 Weak Weak Weak Weak Moderate Weak
SUOX
(HGNC:11460)
 Strong Strong Moderate Strong Strong Strong
SULT2B1
(HGNC:11459)
 Strong Moderate Moderate Weak Strong Moderate
SULT2A1
(HGNC:11458)
 Weak Weak Weak Weak Weak Weak
STRN
(HGNC:11424)
 Weak Weak Weak Weak Weak Weak
BTN3A2
(HGNC:1139)
 Weak Weak Weak Weak Weak Weak
STAT5A
(HGNC:11366)
 Weak Weak Weak Weak Weak Weak
SSR4
(HGNC:11326)
 Strong Strong Moderate Moderate Strong Strong
SRP72
(HGNC:11303)
 Moderate Moderate Weak Weak Moderate Moderate
SRP54
(HGNC:11301)
 Strong Strong Weak Weak Strong Moderate
SPTLC1
(HGNC:11277)
 Moderate Moderate Moderate Strong Strong Moderate
SPTBN1
(HGNC:11275)
 Moderate Moderate Weak Weak Moderate Moderate
SPI1
(HGNC:11241)
 Weak Weak Weak Weak Moderate Moderate
SOX3
(HGNC:11199)
 Strong Moderate Moderate Strong Strong Strong
SOS2
(HGNC:11188)
 Strong Moderate Weak Moderate Strong Strong
BSN
(HGNC:1117)
 Moderate Weak Moderate Strong Moderate Moderate
SMARCD2
(HGNC:11107)
 Strong Strong Weak Weak Strong Strong
SMARCC2
(HGNC:11105)
 Strong Moderate Moderate Moderate Strong Strong
SMARCC1
(HGNC:11104)
 Strong Strong Moderate Weak Strong Strong
SMARCA1
(HGNC:11097)
 Strong Strong Moderate Weak Strong Strong
Showing 581–600 of 2035