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
BUB1
(HGNC:1148)
 Moderate Weak Weak Moderate Moderate Moderate
PLK4
(HGNC:11397)
 Strong Strong Moderate Moderate Strong Strong
STUB1
(HGNC:11427)
 Moderate Strong Moderate Strong Moderate Strong
STAT2
(HGNC:11363)
 Moderate Moderate Moderate Weak Strong Strong
STK4
(HGNC:11408)
 Strong Strong Moderate Moderate Strong Strong
ST14
(HGNC:11344)
 Strong Strong Moderate Strong Strong Strong
AURKC
(HGNC:11391)
 Moderate Strong Moderate Strong Moderate Moderate
SS18
(HGNC:11340)
 Weak Weak Weak Weak Weak Weak
SPTBN2
(HGNC:11276)
 Strong Strong Moderate Strong Moderate Strong
SSBP1
(HGNC:11317)
 Moderate Moderate Moderate Moderate Moderate Moderate
SPTAN1
(HGNC:11273)
 Moderate Moderate Moderate Moderate Moderate Moderate
SPR
(HGNC:11257)
 Strong Strong Moderate Strong Moderate Strong
SRC
(HGNC:11283)
 Strong Strong Moderate Weak Strong Strong
SPTLC2
(HGNC:11278)
 Moderate Moderate Moderate Moderate Strong Moderate
SOX4
(HGNC:11200)
 Moderate Moderate Moderate Moderate Moderate Moderate
SPOP
(HGNC:11254)
 Weak Weak Moderate Moderate Weak Moderate
SNRPN
(HGNC:11164)
 Strong Moderate Moderate Strong Moderate Strong
SOX5
(HGNC:11201)
 Strong Moderate Moderate Moderate Strong Strong
SLC7A7
(HGNC:11065)
 Strong Strong Moderate Strong Strong Strong
SON
(HGNC:11183)
 Strong Moderate Moderate Strong Moderate Strong
Showing 1941–1960 of 2035