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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
KCNJ8
(HGNC:6269)
 Moderate Weak Weak Weak Strong Strong
KCNH1
(HGNC:6250)
 Moderate Weak Strong Strong Moderate —
APRT
(HGNC:626)
 Strong Moderate Moderate Moderate Strong Strong
KCND3
(HGNC:6239)
 Weak Weak Moderate Strong Strong Strong
KCNJ13
(HGNC:6259)
 Weak Moderate Strong Moderate Weak Strong
KCNC3
(HGNC:6235)
 Moderate Moderate Strong Strong Strong Strong
KCNC2
(HGNC:6234)
 Weak Weak Strong Weak Moderate Moderate
KCNC1
(HGNC:6233)
 Moderate Weak Moderate Weak Strong Weak
KCNB1
(HGNC:6231)
 Moderate Moderate Moderate Weak Moderate Strong
KCNA2
(HGNC:6220)
 Moderate Moderate Strong Weak Moderate Moderate
KCNA1
(HGNC:6218)
 Weak Weak Moderate Moderate Moderate Strong
KARS1
(HGNC:6215)
 Moderate Weak Strong Strong Strong Strong
IVD
(HGNC:6186)
 Weak Moderate Weak Strong Strong Strong
JARID2
(HGNC:6196)
 Weak Weak Weak Weak Weak Weak
ITK
(HGNC:6171)
 Moderate Moderate Strong Moderate Strong Strong
ITM2B
(HGNC:6174)
 Weak Weak Moderate Moderate Strong Strong
ITGA6
(HGNC:6142)
 Moderate Weak Strong Moderate Moderate Moderate
ITGA3
(HGNC:6139)
 Weak Weak Moderate Moderate Strong Strong
IL1RAPL1
(HGNC:5996)
 Weak Weak Moderate Strong Strong Strong
ISL1
(HGNC:6132)
 Moderate Moderate Strong Moderate Strong Strong
Showing 281–300 of 1365