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
BSND
(HGNC:16512)
 Strong Strong Moderate Moderate Strong Strong
MCEE
(HGNC:16732)
 Strong Moderate Weak Weak Strong Strong
SRCAP
(HGNC:16974)
 Strong Moderate Moderate Strong Moderate Strong
HAX1
(HGNC:16915)
 Strong Strong Moderate Strong Strong Strong
STAMBP
(HGNC:16950)
 Strong Strong Moderate Strong Strong Strong
SPEG
(HGNC:16901)
 Moderate Moderate Moderate Moderate Strong Strong
CD59
(HGNC:1689)
 Strong Strong Moderate Strong Strong Strong
HCN4
(HGNC:16882)
 Moderate Moderate Moderate Strong Strong Moderate
FIG4
(HGNC:16873)
 Moderate Weak Weak Strong Weak Moderate
LITAF
(HGNC:16841)
 Moderate Moderate Moderate Moderate Moderate Moderate
COQ8A
(HGNC:16812)
 Strong Strong Moderate Strong Strong Strong
TGFBRAP1
(HGNC:16836)
 Moderate Weak Weak Strong Weak Weak
IFITM5
(HGNC:16644)
 Strong Moderate Strong Strong Strong Strong
CARD14
(HGNC:16446)
 Strong Moderate Moderate Strong Moderate Strong
ZMIZ1
(HGNC:16493)
 Strong Strong Moderate Moderate Strong Strong
OTOA
(HGNC:16378)
 Strong Strong Moderate Strong Strong Strong
ACSL6
(HGNC:16496)
 Weak Weak Weak Weak Weak Weak
NLRC4
(HGNC:16412)
 Strong Moderate Moderate Strong Moderate Strong
MAGED2
(HGNC:16353)
 Strong Strong Moderate Moderate Strong Strong
TGM6
(HGNC:16255)
 Moderate Moderate Moderate Strong Strong Moderate
Showing 1681–1700 of 2035