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
Showing 61–80 of 2035