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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
OPA3
(HGNC:8142)
 Weak Moderate Strong Strong Weak Moderate
ATP2A1
(HGNC:811)
 Moderate Weak Moderate Moderate Weak Strong
OAT
(HGNC:8091)
 Weak Strong Strong Strong Strong Strong
OCLN
(HGNC:8104)
 Moderate Moderate Strong Weak Strong Strong
NYX
(HGNC:8082)
 Moderate Moderate Strong Strong Strong Strong
FRMD7
(HGNC:8079)
 Weak Moderate Moderate Strong Strong Strong
NUP98
(HGNC:8068)
 Moderate Strong Weak Moderate Strong Strong
NUP214
(HGNC:8064)
 Weak Weak Moderate Moderate Weak Weak
NUMA1
(HGNC:8059)
 Weak Weak Weak Weak Weak Weak
NT5E
(HGNC:8021)
 Weak Moderate Strong Moderate Strong Strong
CNTNAP1
(HGNC:8011)
 Weak Moderate Strong Weak Strong Strong
NRXN3
(HGNC:8010)
 Weak Moderate Weak Moderate Strong Moderate
NRXN2
(HGNC:8009)
 Weak Weak Moderate Weak Weak Moderate
NRL
(HGNC:8002)
 Weak Weak Weak Strong Weak Strong
NR4A3
(HGNC:7982)
 Moderate Weak Weak Weak Strong Strong
NR2F2
(HGNC:7976)
 Weak Weak Strong Moderate Strong Strong
NR2F1
(HGNC:7975)
 Moderate Moderate Strong Strong Strong Strong
NR1I3
(HGNC:7969)
 Weak Moderate Weak Moderate Weak Weak
NR1H4
(HGNC:7967)
 Weak Weak Weak Weak Weak Moderate
ATIC
(HGNC:794)
 Strong Moderate Moderate Strong Moderate Strong
Showing 121–140 of 1365