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
KLKB1
(HGNC:6371)
 Moderate Moderate Moderate Moderate Strong Strong
AQP4
(HGNC:637)
 Weak Weak Weak Weak Moderate Weak
KLF2
(HGNC:6347)
 Weak Weak Moderate Weak Moderate Moderate
KNG1
(HGNC:6383)
 Strong Strong Moderate Moderate Strong Strong
KLHL3
(HGNC:6354)
 Moderate Strong Moderate Moderate Moderate Strong
KCNMA1
(HGNC:6284)
 Moderate Moderate Moderate Moderate Moderate Strong
KEL
(HGNC:6308)
 Moderate Moderate Weak Strong Moderate Strong
KCNK9
(HGNC:6283)
 Moderate Strong Weak Weak Moderate Moderate
KCNN2
(HGNC:6291)
 Strong Strong Moderate Moderate Strong Strong
KCNK3
(HGNC:6278)
 Moderate Moderate Moderate Weak Moderate Strong
KCNJ8
(HGNC:6269)
 Strong Moderate Weak Weak Strong Strong
KCNH1
(HGNC:6250)
 Strong Strong Moderate Moderate Strong Strong
APRT
(HGNC:626)
 Strong Strong Moderate Strong Strong Strong
KCND3
(HGNC:6239)
 Moderate Moderate Moderate Strong Strong Strong
KCNJ13
(HGNC:6259)
 Strong Strong Moderate Moderate Moderate Strong
KCNC3
(HGNC:6235)
 Strong Strong Moderate Strong Strong Moderate
KCNC2
(HGNC:6234)
 Moderate Moderate Moderate Moderate Moderate Moderate
KCNC1
(HGNC:6233)
 Moderate Moderate Moderate Weak Strong Moderate
KCNB1
(HGNC:6231)
 Moderate Moderate Moderate Weak Moderate Moderate
KCNA2
(HGNC:6220)
 Strong Moderate Moderate Weak Strong Strong
Showing 941–960 of 2035