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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
DAG1
(HGNC:2666)
 Weak Weak Weak Strong Weak Strong
OTOGL
(HGNC:26901)
 Moderate Strong Strong Strong Strong Strong
DAXX
(HGNC:2681)
 Weak Weak Weak Weak Weak Weak
ANKS6
(HGNC:26724)
 Weak Weak Strong Moderate Strong Strong
HGSNAT
(HGNC:26527)
 Weak Weak Moderate Strong Strong Moderate
BBS12
(HGNC:26648)
 Moderate Moderate Strong Strong Strong Strong
CD55
(HGNC:2665)
 Weak Weak Moderate Strong Weak Strong
UNC80
(HGNC:26582)
 Moderate Weak Strong Moderate Weak Strong
KY
(HGNC:26576)
 Moderate Weak Strong Strong Strong Strong
CYP7B1
(HGNC:2652)
 Moderate Weak Strong Strong Strong Strong
NARS2
(HGNC:26274)
 Weak Weak Moderate Strong Strong Strong
LOXHD1
(HGNC:26521)
 Moderate Weak Moderate Strong Weak Moderate
CTC1
(HGNC:26169)
 Moderate Weak Moderate Strong Weak Strong
SCLT1
(HGNC:26406)
 Moderate Weak Strong Moderate Strong Strong
PIEZO2
(HGNC:26270)
 Weak Moderate Moderate Strong Weak Moderate
TMEM70
(HGNC:26050)
 Moderate Moderate Strong Strong Moderate Strong
MARVELD2
(HGNC:26401)
 Moderate Strong Strong Strong Strong Strong
PDZD7
(HGNC:26257)
 Weak Weak Moderate Strong Weak Moderate
CCDC40
(HGNC:26090)
 Weak Moderate Moderate Weak Strong Strong
NSUN2
(HGNC:25994)
 Moderate Moderate Strong Moderate Strong Strong
Showing 641–660 of 1365