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
|
|