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 |
|
GRIA2
(HGNC:4572)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
AMBN
(HGNC:452)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
AMACR
(HGNC:451)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
ADGRG1
(HGNC:4512)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ALX4
(HGNC:450)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
GPD1
(HGNC:4455)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
GPC4
(HGNC:4452)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
GP9
(HGNC:4444)
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
GP1BB
(HGNC:4440)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
ALS2
(HGNC:443)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GOSR2
(HGNC:4431)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GNS
(HGNC:4422)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GNMT
(HGNC:4415)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
GNRH1
(HGNC:4419)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
GNB5
(HGNC:4401)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GNAT1
(HGNC:4393)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
GNAL
(HGNC:4388)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
GM2A
(HGNC:4367)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GNA13
(HGNC:4381)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
GLI1
(HGNC:4317)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|