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
|
|