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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
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
Showing 1021–1040 of 1365