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
|
|