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
COPA
(HGNC:2230)
 Moderate Moderate Weak Strong Strong Moderate
KIAA1549
(HGNC:22219)
 Weak Weak Weak Weak Weak Weak
GMPPB
(HGNC:22932)
 Strong Strong Moderate Moderate Strong Strong
COX10
(HGNC:2260)
 Moderate Moderate Moderate Moderate Strong Strong
COX15
(HGNC:2263)
 Moderate Strong Moderate Weak Strong Strong
CORO1A
(HGNC:2252)
 Strong Strong Moderate Weak Strong Strong
MED13
(HGNC:22474)
 Strong Moderate Moderate Moderate Strong Moderate
COQ7
(HGNC:2244)
 Moderate Moderate Moderate Strong Strong Strong
COL9A3
(HGNC:2219)
 Moderate Moderate Moderate Strong Moderate Moderate
VMA21
(HGNC:22082)
 Strong Strong Moderate Strong Strong Strong
TMEM106B
(HGNC:22407)
 Moderate Weak Weak Strong Weak Weak
COL10A1
(HGNC:2185)
 Strong Strong Moderate Strong Moderate Strong
COCH
(HGNC:2180)
 Strong Strong Moderate Strong Moderate Strong
COL9A2
(HGNC:2218)
 Strong Moderate Moderate Moderate Moderate Moderate
COL4A6
(HGNC:2208)
 Strong Moderate Moderate Strong Strong Moderate
COL9A1
(HGNC:2217)
 Strong Moderate Strong Moderate Moderate Moderate
KCTD7
(HGNC:21957)
 Strong Strong Moderate Strong Strong Strong
ANTXR2
(HGNC:21732)
 Strong Strong Moderate Strong Strong Strong
CNTN6
(HGNC:2176)
 Moderate Moderate Weak Weak Moderate Moderate
LHX4
(HGNC:21734)
 Moderate Moderate Weak Moderate Moderate Strong
Showing 1461–1480 of 2035