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
|
|