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
CREB3L3
(HGNC:18855)
 Moderate Moderate Moderate Strong Moderate Moderate
PPP1R13L
(HGNC:18838)
 Strong Strong Moderate Moderate Strong Strong
NDUFAF1
(HGNC:18828)
 Strong Moderate Moderate Moderate Strong Strong
CATSPER2
(HGNC:18810)
 Strong Moderate Moderate Strong Strong Strong
CAMTA1
(HGNC:18806)
 Moderate Moderate Moderate Weak Moderate Moderate
PDCD1LG2
(HGNC:18731)
 Moderate Moderate Weak Weak Strong Moderate
GRIP1
(HGNC:18708)
 Weak Moderate Weak Moderate Moderate Moderate
RTN4IP1
(HGNC:18647)
 Strong Strong Moderate Strong Strong Strong
COG7
(HGNC:18622)
 Moderate Strong Moderate Weak Strong Strong
COG4
(HGNC:18620)
 Moderate Moderate Weak Moderate Moderate Moderate
CEP250
(HGNC:1859)
 Strong Moderate Moderate Moderate Strong Strong
CENPF
(HGNC:1857)
 Strong Strong Moderate Strong Strong Strong
CCNO
(HGNC:18576)
 Strong Strong Moderate Strong Strong Strong
IER3IP1
(HGNC:18550)
 Strong Strong Moderate Moderate Strong Strong
KMT2E
(HGNC:18541)
 Strong Strong Moderate Moderate Strong Strong
CPT1C
(HGNC:18540)
 Moderate Moderate Moderate Weak Strong Moderate
STX1B
(HGNC:18539)
 Moderate Moderate Weak Weak Strong Moderate
CELSR1
(HGNC:1850)
 Moderate Weak Weak Weak Moderate Moderate
NAXE
(HGNC:18453)
 Strong Strong Moderate Strong Strong Strong
AGMAT
(HGNC:18407)
 Strong Moderate Moderate Weak Strong Strong
Showing 381–400 of 2035