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
PAK1
(HGNC:8590)
 Strong Strong Moderate Moderate Strong Strong
ATP6V1E1
(HGNC:857)
 Weak Moderate Weak Weak Moderate Weak
PABPN1
(HGNC:8565)
 Strong Strong Moderate Strong Moderate Strong
ATP6V1B2
(HGNC:854)
 Strong Moderate Moderate Moderate Strong Moderate
OXCT1
(HGNC:8527)
 Moderate Strong Moderate Strong Strong Strong
ATP4A
(HGNC:819)
 Weak Strong Moderate Weak Moderate Moderate
ATP2B3
(HGNC:816)
 Weak Weak Weak Moderate Weak Moderate
SIGMAR1
(HGNC:8157)
 Strong Moderate Moderate Strong Moderate Strong
OPHN1
(HGNC:8148)
 Strong Strong Moderate Moderate Strong Strong
OPA3
(HGNC:8142)
 Moderate Moderate Moderate Strong Moderate Moderate
ATP2A1
(HGNC:811)
 Strong Strong Moderate Moderate Strong Strong
OAT
(HGNC:8091)
 Strong Strong Moderate Strong Strong Strong
OCLN
(HGNC:8104)
 Strong Moderate Moderate Moderate Strong Strong
NYX
(HGNC:8082)
 Strong Strong Moderate Strong Strong Strong
FRMD7
(HGNC:8079)
 Strong Strong Moderate Strong Strong Strong
NUP98
(HGNC:8068)
 Weak Weak Weak Weak Weak Weak
NUP214
(HGNC:8064)
 Moderate Moderate Moderate Weak Moderate Moderate
NUMA1
(HGNC:8059)
 Weak Weak Weak Weak Weak Weak
NT5E
(HGNC:8021)
 Moderate Strong Moderate Moderate Strong Strong
CNTNAP1
(HGNC:8011)
 Strong Strong Moderate Strong Strong Strong
Showing 781–800 of 2035