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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
SYN1
(HGNC:11494)
 Moderate Moderate Moderate Strong Strong Strong
TBCE
(HGNC:11582)
 Strong Moderate Strong Strong Strong Strong
TBCD
(HGNC:11581)
 Weak Moderate Strong Weak Strong Strong
TAF1
(HGNC:11535)
 Weak Weak Weak Moderate Moderate Moderate
BUB1B
(HGNC:1149)
 Moderate Moderate Strong Strong Moderate Strong
SYT1
(HGNC:11509)
 Moderate Moderate Strong Moderate Strong Strong
SUCLG1
(HGNC:11449)
 Moderate Weak Strong Strong Strong Strong
STAG3
(HGNC:11356)
 Moderate Moderate Moderate Strong Strong Strong
STX16
(HGNC:11431)
 Strong Moderate Weak Weak Strong Strong
STIM1
(HGNC:11386)
 Moderate Weak Weak Strong Weak Strong
BUB1
(HGNC:1148)
 Moderate Weak Weak Moderate Weak Moderate
PLK4
(HGNC:11397)
 Moderate Weak Weak Strong Weak Moderate
STUB1
(HGNC:11427)
 Moderate Moderate Weak Strong Weak Strong
STAT2
(HGNC:11363)
 Weak Moderate Strong Weak Strong Strong
STK4
(HGNC:11408)
 Moderate Moderate Moderate Strong Strong Strong
ST14
(HGNC:11344)
 Weak Moderate Strong Strong Strong Strong
AURKC
(HGNC:11391)
 Weak Moderate Moderate Strong Strong Strong
SS18
(HGNC:11340)
 Moderate Moderate Strong Weak Strong Strong
SPTBN2
(HGNC:11276)
 Moderate Moderate Strong Strong Weak Strong
SSBP1
(HGNC:11317)
 Weak Weak Weak Moderate Weak Moderate
Showing 1261–1280 of 1365