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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
KHDC3L
(HGNC:33699)
 Moderate Weak Strong Strong Strong Strong
AGRN
(HGNC:329)
 Weak Weak Strong Strong Weak Moderate
SMPD4
(HGNC:32949)
 Moderate Strong Strong Moderate Strong Strong
EIF2B3
(HGNC:3259)
 Moderate Moderate Moderate Strong Moderate Strong
FLG2
(HGNC:33276)
 Moderate Weak Strong Strong Moderate Moderate
EIF2B4
(HGNC:3260)
 Weak Moderate Moderate Strong Weak Strong
DUOXA2
(HGNC:32698)
 Moderate Moderate Weak Strong Strong Strong
EIF2B5
(HGNC:3261)
 Moderate Moderate Weak Strong Strong Strong
EIF2S3
(HGNC:3267)
 Moderate Moderate Weak Weak Strong Strong
EIF2B2
(HGNC:3258)
 Moderate Weak Strong Moderate Strong Strong
ALG11
(HGNC:32456)
 Weak Moderate Strong Weak Strong Strong
EIF2B1
(HGNC:3257)
 Weak Moderate Weak Moderate Weak Weak
EFNB1
(HGNC:3226)
 Weak Moderate Weak Strong Strong Strong
EFEMP2
(HGNC:3219)
 Moderate Weak Strong Strong Weak Moderate
EFEMP1
(HGNC:3218)
 Strong Weak Weak Strong Weak Weak
CEACAM16
(HGNC:31948)
 Weak Moderate Strong Moderate Weak Moderate
EEF1A2
(HGNC:3192)
 Moderate Moderate Strong Weak Weak Moderate
NBEAL2
(HGNC:31928)
 Weak Moderate Weak Weak Strong Strong
AGA
(HGNC:318)
 Weak Moderate Moderate Strong Strong Strong
EDN3
(HGNC:3178)
 Weak Weak Moderate Weak Moderate Strong
Showing 461–480 of 1365