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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
CRB2
(HGNC:18688)
 Moderate Weak Strong Strong Strong Strong
ZFP57
(HGNC:18791)
 Weak Weak Moderate Strong Strong Strong
COG6
(HGNC:18621)
 Moderate Weak Strong Strong Strong Strong
CCDC6
(HGNC:18782)
 Weak Weak Strong Weak Strong Strong
ZDHHC9
(HGNC:18475)
 Moderate Strong Strong Moderate Strong Strong
HSD3B7
(HGNC:18324)
 Moderate Moderate Moderate Strong Strong Strong
FKBP14
(HGNC:18625)
 Strong Moderate Strong Weak Strong Strong
TUBGCP5
(HGNC:18600)
 Weak Weak Weak Moderate Weak Moderate
LRRK1
(HGNC:18608)
 Moderate Moderate Strong Strong Weak Moderate
RNASEH2A
(HGNC:18518)
 Weak Weak Moderate Moderate Weak Moderate
OSGEP
(HGNC:18028)
 Moderate Moderate Strong Strong Strong Strong
MOCOS
(HGNC:18234)
 Weak Weak Weak Moderate Weak Moderate
HAVCR2
(HGNC:18437)
 Strong Weak Weak Moderate Weak Strong
WIF1
(HGNC:18081)
 Weak Weak Moderate Weak Weak Moderate
MYO18B
(HGNC:18150)
 Moderate Weak Moderate Weak Weak Moderate
EMSY
(HGNC:18071)
 Strong Weak Weak Weak Weak Moderate
TMC6
(HGNC:18021)
 Moderate Strong Strong Moderate Weak Strong
NAGS
(HGNC:17996)
 Weak Moderate Strong Strong Strong Strong
TRPM7
(HGNC:17994)
 Weak Weak Weak Strong Strong Moderate
B3GALT6
(HGNC:17978)
 Moderate Moderate Strong Moderate Weak Moderate
Showing 941–960 of 1365