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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
STRA6
(HGNC:30650)
 Weak Moderate Moderate Strong Strong Strong
UBA2
(HGNC:30661)
 Weak Moderate Weak Weak Strong Strong
CEP57
(HGNC:30794)
 Moderate Moderate Strong Strong Strong Strong
UNC45A
(HGNC:30594)
 Weak Moderate Strong Moderate Strong Strong
UBIAD1
(HGNC:30791)
 Weak Moderate Strong Weak Strong Strong
GATAD2B
(HGNC:30778)
 Weak Moderate Strong Weak Strong Strong
PARS2
(HGNC:30563)
 Strong Moderate Strong Moderate Strong Moderate
TSHZ3
(HGNC:30700)
 Weak Weak Moderate Moderate Weak Moderate
PPP1R21
(HGNC:30595)
 Strong Moderate Strong Weak Strong Strong
DSPP
(HGNC:3054)
 Weak Weak Strong Strong Weak Moderate
SEPSECS
(HGNC:30605)
 Weak Moderate Strong Moderate Strong Strong
SLC46A1
(HGNC:30521)
 Moderate Moderate Strong Strong Strong Strong
EXPH5
(HGNC:30578)
 Weak Moderate Strong Strong Strong Strong
DNAJC19
(HGNC:30528)
 Moderate Moderate Strong Strong Strong Strong
KIF7
(HGNC:30497)
 Moderate Moderate Strong Strong Strong Strong
DSG1
(HGNC:3048)
 Weak Weak Strong Strong Weak Strong
AEBP1
(HGNC:303)
 Weak Moderate Strong Weak Strong Strong
KLHL40
(HGNC:30372)
 Moderate Weak Strong Moderate Strong Strong
POLR3B
(HGNC:30348)
 Moderate Moderate Strong Strong Weak Moderate
ATN1
(HGNC:3033)
 Moderate Moderate Moderate Strong Strong Strong
Showing 501–520 of 1365