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
TBX22
(HGNC:11600)
 Strong Strong Moderate Moderate Strong Strong
TBX19
(HGNC:11596)
 Strong Strong Moderate Strong Strong Strong
TBX2
(HGNC:11597)
 Moderate Moderate Moderate Moderate Strong Moderate
TBR1
(HGNC:11590)
 Moderate Moderate Moderate Moderate Strong Strong
TBL1X
(HGNC:11585)
 Moderate Moderate Moderate Weak Strong Moderate
TACSTD2
(HGNC:11530)
 Strong Strong Strong Strong Strong Strong
TALDO1
(HGNC:11559)
 Strong Strong Moderate Strong Strong Strong
TACR3
(HGNC:11528)
 Strong Strong Moderate Moderate Strong Strong
SYT2
(HGNC:11510)
 Strong Strong Moderate Moderate Moderate Strong
SYNJ1
(HGNC:11503)
 Strong Moderate Moderate Strong Strong Strong
SYN1
(HGNC:11494)
 Strong Strong Moderate Moderate Strong Strong
TBCE
(HGNC:11582)
 Strong Strong Moderate Strong Strong Strong
TBCD
(HGNC:11581)
 Moderate Strong Moderate Moderate Strong Strong
TAF1
(HGNC:11535)
 Moderate Strong Moderate Weak Strong Moderate
BUB1B
(HGNC:1149)
 Moderate Moderate Moderate Strong Moderate Moderate
SYT1
(HGNC:11509)
 Strong Strong Moderate Moderate Strong Strong
SUCLG1
(HGNC:11449)
 Moderate Strong Moderate Strong Strong Strong
STAG3
(HGNC:11356)
 Strong Strong Moderate Strong Strong Strong
STX16
(HGNC:11431)
 Strong Strong Moderate Moderate Strong Strong
STIM1
(HGNC:11386)
 Strong Strong Moderate Strong Strong Strong
Showing 1921–1940 of 2035