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 |
|
COQ8A
(HGNC:16812)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TGFBRAP1
(HGNC:16836)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
IFITM5
(HGNC:16644)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
CARD14
(HGNC:16446)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZMIZ1
(HGNC:16493)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
OTOA
(HGNC:16378)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ACSL6
(HGNC:16496)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NLRC4
(HGNC:16412)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
MAGED2
(HGNC:16353)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
TGM6
(HGNC:16255)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
USH1G
(HGNC:16356)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
RSPO4
(HGNC:16175)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
UPB1
(HGNC:16297)
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
NFU1
(HGNC:16287)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PNPLA6
(HGNC:16268)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MAML3
(HGNC:16272)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
|
|
YAP1
(HGNC:16262)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
|
|
MAML2
(HGNC:16259)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Strong
|
|
|
TUBB1
(HGNC:16257)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MLLT10
(HGNC:16063)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|