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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
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
Showing 141–160 of 1365