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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
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
Showing 1281–1300 of 1365