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 |
|
NHS
(HGNC:7820)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TONSL
(HGNC:7801)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ABL2
(HGNC:77)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NFE2L1
(HGNC:7781)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
NFATC1
(HGNC:7775)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|
|
NDUFS6
(HGNC:7713)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
NDUFS1
(HGNC:7707)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NCOR2
(HGNC:7673)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NCOA4
(HGNC:7671)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NCOA1
(HGNC:7668)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NCF4
(HGNC:7662)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
NBEA
(HGNC:7648)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
NARS1
(HGNC:7643)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
PPP1R12A
(HGNC:7618)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
MYO9B
(HGNC:7609)
|
Weak
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
MYO1D
(HGNC:7598)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
MYH2
(HGNC:7572)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
ASNS
(HGNC:753)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MUSK
(HGNC:7525)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MUC2
(HGNC:7512)
|
Weak
|
Strong
|
Weak
|
Weak
|
Weak
|
Weak
|
|