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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
ALG3
(HGNC:23056)
 Weak Moderate Strong Strong Strong Strong
TRAPPC2
(HGNC:23068)
 Moderate Strong Strong Strong Strong Strong
FAM20A
(HGNC:23015)
 Moderate Moderate Weak Strong Strong Strong
ZRSR2
(HGNC:23019)
 Moderate Weak Weak Weak Weak Moderate
MED13L
(HGNC:22962)
 Weak Weak Strong Weak Strong Moderate
COX8A
(HGNC:2294)
 Weak Weak Moderate Weak Weak Moderate
COL27A1
(HGNC:22986)
 Moderate Moderate Strong Strong Strong Strong
PDLIM7
(HGNC:22958)
 Weak Weak Weak Weak Weak Weak
NLRP12
(HGNC:22938)
 Moderate Weak Moderate Strong Moderate Moderate
NLRP2
(HGNC:22948)
 Moderate Weak Moderate Moderate Strong Strong
COPA
(HGNC:2230)
 Moderate Moderate Weak Strong Strong Moderate
KIAA1549
(HGNC:22219)
 Moderate Moderate Weak Weak Strong Strong
GMPPB
(HGNC:22932)
 Moderate Weak Strong Strong Strong Strong
COX10
(HGNC:2260)
 Moderate Weak Moderate Moderate Strong Strong
COX15
(HGNC:2263)
 Strong Moderate Strong Strong Strong Strong
CORO1A
(HGNC:2252)
 Moderate Moderate Strong Weak Strong Strong
MED13
(HGNC:22474)
 Moderate Moderate Strong Weak Moderate Strong
COQ7
(HGNC:2244)
 Weak Weak Strong Strong Strong Strong
COL9A3
(HGNC:2219)
 Moderate Weak Strong Moderate Weak Moderate
VMA21
(HGNC:22082)
 Moderate Weak Strong Strong Strong Strong
Showing 781–800 of 1365