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
NFIB
(HGNC:7785)
 Moderate Strong Weak Weak Strong Moderate
NFIA
(HGNC:7784)
 Moderate Moderate Weak Moderate Strong Strong
NEU1
(HGNC:7758)
 Weak Moderate Strong Strong Strong Strong
NFATC2
(HGNC:7776)
 Weak Weak Weak Weak Moderate Moderate
NEFH
(HGNC:7737)
 Moderate Moderate Moderate Strong Moderate Moderate
NEDD4L
(HGNC:7728)
 Strong Strong Moderate Weak Strong Moderate
NDUFV1
(HGNC:7716)
 Strong Moderate Moderate Strong Strong Strong
NDUFS4
(HGNC:7711)
 Strong Strong Moderate Moderate Strong Strong
NDUFS8
(HGNC:7715)
 Moderate Strong Moderate Moderate Strong Strong
NDRG1
(HGNC:7679)
 Strong Strong Moderate Strong Strong Strong
NCOR1
(HGNC:7672)
 Moderate Moderate Weak Weak Strong Moderate
NCOA3
(HGNC:7670)
 Weak Weak Weak Weak Weak Weak
NCOA2
(HGNC:7669)
 Weak Weak Weak Weak Weak Weak
NAGLU
(HGNC:7632)
 Weak Moderate Moderate Strong Weak Moderate
NAGA
(HGNC:7631)
 Strong Moderate Moderate Moderate Strong Strong
NAB2
(HGNC:7627)
 Weak Weak Weak Weak Weak Weak
MYT1L
(HGNC:7623)
 Moderate Strong Weak Strong Strong Moderate
MYOG
(HGNC:7612)
 Moderate Strong Weak Weak Strong Moderate
MYOD1
(HGNC:7611)
 Weak Moderate Moderate Weak Moderate Moderate
MYO6
(HGNC:7605)
 Strong Strong Moderate Strong Moderate Strong
Showing 821–840 of 2035