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
Showing 1041–1060 of 2035