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
SAMM50
(HGNC:24276)
 Weak Weak Weak Weak Weak Weak
GLYCTK
(HGNC:24247)
 Moderate Moderate Weak Strong Strong Moderate
POLR1G
(HGNC:24219)
 Weak Weak Weak Weak Weak Weak
CRYGS
(HGNC:2417)
 Moderate Strong Moderate Moderate Strong Moderate
B9D1
(HGNC:24123)
 Moderate Moderate Moderate Moderate Moderate Moderate
RNASEH2C
(HGNC:24116)
 Moderate Strong Moderate Moderate Strong Strong
ARSG
(HGNC:24102)
 Strong Strong Moderate Moderate Strong Strong
CLMP
(HGNC:24039)
 Strong Strong Moderate Strong Strong Strong
CRYBB3
(HGNC:2400)
 Weak Moderate Weak Moderate Moderate Weak
NDUFA12
(HGNC:23987)
 Weak Moderate Weak Moderate Moderate Moderate
CRYBA4
(HGNC:2396)
 Moderate Strong Moderate Moderate Strong Moderate
CRYBA1
(HGNC:2394)
 Strong Strong Moderate Moderate Strong Moderate
CRYAB
(HGNC:2389)
 Moderate Moderate Moderate Strong Moderate Strong
CRYAA
(HGNC:2388)
 Strong Strong Moderate Moderate Strong Strong
PTF1A
(HGNC:23734)
 Strong Strong Moderate Moderate Strong Strong
MYCBP2
(HGNC:23386)
 Moderate Weak Moderate Weak Strong Moderate
CR2
(HGNC:2336)
 Moderate Moderate Moderate Moderate Moderate Moderate
PIBF1
(HGNC:23352)
 Strong Strong Moderate Weak Strong Strong
CPAMD8
(HGNC:23228)
 Strong Moderate Moderate Weak Strong Strong
ELL
(HGNC:23114)
 Weak Weak Weak Weak Weak Weak
Showing 301–320 of 2035