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
GLRB
(HGNC:4329)
 Strong Strong Moderate Moderate Strong Strong
GLE1
(HGNC:4315)
 Strong Strong Moderate Moderate Strong Strong
ALOX12B
(HGNC:430)
 Strong Strong Moderate Strong Moderate Strong
GCLC
(HGNC:4311)
 Moderate Strong Moderate Moderate Strong Strong
GK
(HGNC:4289)
 Strong Moderate Weak Moderate Strong Strong
GJB4
(HGNC:4286)
 Weak Weak Moderate Strong Weak Moderate
GJA3
(HGNC:4277)
 Strong Strong Strong Strong Moderate Moderate
GHRHR
(HGNC:4266)
 Strong Strong Strong Strong Strong Strong
GGCX
(HGNC:4247)
 Weak Weak Moderate Strong Strong Strong
GDF6
(HGNC:4221)
 Moderate Moderate Moderate Moderate Strong Moderate
GDF2
(HGNC:4217)
 Moderate Moderate Moderate Moderate Moderate Moderate
GCM2
(HGNC:4198)
 Moderate Moderate Moderate Moderate Moderate Strong
GCGR
(HGNC:4192)
 Strong Moderate Moderate Weak Moderate Strong
GATM
(HGNC:4175)
 Strong Strong Moderate Moderate Moderate Strong
ALDOA
(HGNC:414)
 Moderate Moderate Moderate Weak Moderate Moderate
GAN
(HGNC:4137)
 Strong Strong Moderate Strong Strong Strong
GANAB
(HGNC:4138)
 Strong Moderate Moderate Strong Strong Strong
GALE
(HGNC:4116)
 Moderate Moderate Moderate Strong Strong Strong
ALDH1A3
(HGNC:409)
 Strong Strong Moderate Strong Strong Strong
GABRB1
(HGNC:4081)
 Moderate Moderate Moderate Moderate Moderate Moderate
Showing 1061–1080 of 2035