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 |
|
NPR2
(HGNC:7944)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
ATF6
(HGNC:791)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NPHP3
(HGNC:7907)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NONO
(HGNC:7871)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CNOT1
(HGNC:7877)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
NOG
(HGNC:7866)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NNT
(HGNC:7863)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NGF
(HGNC:7808)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
NFKBIE
(HGNC:7799)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
NFKB2
(HGNC:7795)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NFIX
(HGNC:7788)
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
NFIB
(HGNC:7785)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Strong
|
|
|
NFIA
(HGNC:7784)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
NEU1
(HGNC:7758)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NFATC2
(HGNC:7776)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
NEFH
(HGNC:7737)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
NEDD4L
(HGNC:7728)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
NDUFV1
(HGNC:7716)
|
Strong
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
NDUFS4
(HGNC:7711)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
NDUFS8
(HGNC:7715)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|