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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
STING1
(HGNC:27962)
 Moderate Weak Strong Strong Strong Strong
GRHL2
(HGNC:2799)
 Weak Weak Moderate Weak Weak Moderate
DDX11
(HGNC:2736)
 Weak Moderate Strong Strong Strong Strong
SLC6A19
(HGNC:27960)
 Weak Weak Moderate Moderate Weak Moderate
DEK
(HGNC:2768)
 Weak Weak Moderate Weak Strong Strong
TSEN54
(HGNC:27561)
 Moderate Moderate Strong Strong Moderate Strong
IBA57
(HGNC:27302)
 Weak Moderate Moderate Strong Strong Strong
FOXRED1
(HGNC:26927)
 Moderate Weak Strong Weak Strong Strong
DDIT3
(HGNC:2726)
 Moderate Weak Weak Weak Weak Moderate
CFAP418
(HGNC:27232)
 Moderate Moderate Strong Strong Strong Strong
CARMIL2
(HGNC:27089)
 Weak Moderate Strong Weak Strong Strong
ESCO2
(HGNC:27230)
 Weak Weak Strong Strong Strong Strong
DDB2
(HGNC:2718)
 Moderate Strong Strong Moderate Strong Strong
DCN
(HGNC:2705)
 Strong Weak Moderate Strong Strong Strong
DNAJC21
(HGNC:27030)
 Moderate Moderate Strong Weak Strong Strong
COX20
(HGNC:26970)
 Moderate Moderate Strong Moderate Strong Strong
BLTP1
(HGNC:26953)
 Weak Moderate Strong Moderate Strong Strong
JAGN1
(HGNC:26926)
 Weak Moderate Strong Moderate Strong Strong
MTRFR
(HGNC:26784)
 Moderate Weak Strong Moderate Strong Strong
ERCC6L2
(HGNC:26922)
 Moderate Moderate Weak Strong Strong Strong
Showing 621–640 of 1365