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 |
|
SPTAN1
(HGNC:11273)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
|
|
SPR
(HGNC:11257)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
SRC
(HGNC:11283)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
SPTLC2
(HGNC:11278)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SOX4
(HGNC:11200)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
Weak
|
|
|
SPOP
(HGNC:11254)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
SNRPN
(HGNC:11164)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
SOX5
(HGNC:11201)
|
Weak
|
Weak
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
SLC7A7
(HGNC:11065)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SON
(HGNC:11183)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SOX18
(HGNC:11194)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
SORD
(HGNC:11184)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SOX11
(HGNC:11191)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SNTA1
(HGNC:11167)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Moderate
|
Strong
|
|
|
SLC25A4
(HGNC:10990)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
SLC9A6
(HGNC:11079)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SMARCAL1
(HGNC:11102)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SNAP29
(HGNC:11133)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SMARCE1
(HGNC:11109)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
SLC34A1
(HGNC:11019)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|