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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
ATAD3A
(HGNC:25567)
 Moderate Weak Moderate Strong Weak Moderate
CUX1
(HGNC:2557)
 Weak Weak Weak Strong Weak Moderate
NAXD
(HGNC:25576)
 Weak Moderate Strong Weak Strong Strong
SETD5
(HGNC:25566)
 Weak Weak Strong Weak Weak Strong
CUL4B
(HGNC:2555)
 Weak Moderate Strong Strong Strong Strong
CUL3
(HGNC:2553)
 Moderate Weak Strong Strong Strong Moderate
DARS2
(HGNC:25538)
 Strong Moderate Moderate Strong Strong Strong
ANO10
(HGNC:25519)
 Weak Moderate Strong Strong Strong Strong
MED9
(HGNC:25487)
 Moderate Weak — — — —
VAC14
(HGNC:25507)
 Weak Weak Strong Moderate Strong Strong
C19orf12
(HGNC:25443)
 Moderate Moderate Strong Strong Weak Moderate
TRMU
(HGNC:25481)
 Weak Moderate Strong Strong Strong Strong
FREM2
(HGNC:25396)
 Weak Moderate Strong Strong Strong Strong
CTSK
(HGNC:2536)
 Moderate Moderate Strong Strong Strong Strong
COQ9
(HGNC:25302)
 Moderate Moderate Strong Weak Strong Strong
SLC30A10
(HGNC:25355)
 Moderate Moderate Strong Strong Strong Strong
AHDC1
(HGNC:25230)
 Moderate Moderate Strong Strong Strong Strong
CTSD
(HGNC:2529)
 Weak Weak Strong Strong Strong Strong
SLC25A46
(HGNC:25198)
 Weak Weak Weak Strong Strong Strong
CTNND2
(HGNC:2516)
 Weak Moderate Moderate Strong Weak Strong
Showing 681–700 of 1365