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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
GUCA1A
(HGNC:4678)
 Moderate Moderate Strong Moderate Strong Strong
AMHR2
(HGNC:465)
 Weak Moderate Strong Strong Moderate Strong
GTF2IRD1
(HGNC:4661)
 Weak Weak Moderate Weak Weak Weak
GSS
(HGNC:4624)
 Moderate Moderate Strong Strong Strong Strong
GSN
(HGNC:4620)
 Strong Moderate Strong Strong Strong Strong
AMELX
(HGNC:461)
 Moderate Moderate Strong Strong Moderate Strong
GRM1
(HGNC:4593)
 Weak Weak Moderate Weak Weak Moderate
GRID2
(HGNC:4576)
 Weak Moderate Strong Strong Weak Moderate
GRIA3
(HGNC:4573)
 Moderate Moderate Moderate Weak Strong Moderate
GRHPR
(HGNC:4570)
 Weak Moderate Moderate Strong Strong Strong
GRIA2
(HGNC:4572)
 Weak Weak Moderate Weak Moderate Moderate
AMBN
(HGNC:452)
 Moderate Weak Moderate Weak Weak Moderate
AMACR
(HGNC:451)
 Moderate Moderate Weak Strong Moderate Strong
ADGRG1
(HGNC:4512)
 Strong Moderate Strong Strong Strong Strong
ALX4
(HGNC:450)
 Moderate Weak — — — —
GPD1
(HGNC:4455)
 Moderate Moderate Strong Strong Strong Strong
GPC4
(HGNC:4452)
 Weak Weak Strong Weak Strong Strong
GP9
(HGNC:4444)
 Moderate Strong Strong Strong Strong Strong
GP1BB
(HGNC:4440)
 Weak Moderate Moderate Moderate Strong Strong
ALS2
(HGNC:443)
 Moderate Moderate Strong Strong Strong Strong
Showing 361–380 of 1365