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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
PRKD1
(HGNC:9407)
 Weak Weak Strong Weak Strong Moderate
PRKCG
(HGNC:9402)
 Moderate Moderate Strong Strong Strong Strong
PRKCD
(HGNC:9399)
 Moderate Weak Strong Moderate Strong Strong
PRDM5
(HGNC:9349)
 Moderate Weak Moderate Strong Moderate Moderate
PRKCA
(HGNC:9393)
 Moderate Weak Weak Weak Weak Moderate
PRDM1
(HGNC:9346)
 Weak Weak Weak Weak Weak Weak
PQBP1
(HGNC:9330)
 Moderate Moderate Strong Strong Strong Strong
PRB2
(HGNC:9338)
 Weak Moderate Moderate Weak Strong Moderate
PPP3CA
(HGNC:9314)
 Strong Strong Strong Moderate Strong Strong
PPP2R5D
(HGNC:9312)
 Moderate Moderate Moderate Moderate Strong Strong
B4GALT7
(HGNC:930)
 Moderate Moderate Strong Strong Strong Strong
PPP1CB
(HGNC:9282)
 Moderate Moderate Strong Moderate Strong Strong
PDP1
(HGNC:9279)
 Weak Moderate Strong Weak Strong Strong
CTSA
(HGNC:9251)
 Moderate Weak Strong Strong Weak Moderate
B3GAT3
(HGNC:923)
 Weak Moderate Strong Strong Strong Strong
PPIB
(HGNC:9255)
 Weak Moderate Moderate Strong Strong Strong
POU4F3
(HGNC:9220)
 Weak Moderate Strong Strong Moderate Strong
POLH
(HGNC:9181)
 Moderate Moderate Strong Strong Strong Strong
POLR2A
(HGNC:9187)
 Moderate Weak Strong Weak Strong Strong
POLG2
(HGNC:9180)
 Weak Weak Moderate Weak Weak Strong
Showing 41–60 of 1365