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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
ALPK1
(HGNC:20917)
 Strong Weak Moderate Weak Strong Strong
AARS1
(HGNC:20)
 Moderate Weak Moderate Strong Weak Moderate
CPO
(HGNC:21011)
 Weak Moderate Moderate Moderate Strong Strong
CLTC
(HGNC:2092)
 Weak Weak Strong Moderate Weak Strong
SLC39A14
(HGNC:20858)
 Weak Moderate Strong Moderate Strong Strong
TUBB
(HGNC:20778)
 Weak Weak Strong Moderate Strong Moderate
CLPP
(HGNC:2084)
 Moderate Moderate Strong Strong Strong Strong
CLN8
(HGNC:2079)
 Weak Moderate Strong Strong Strong Strong
TUBB4A
(HGNC:20774)
 Moderate Moderate Weak Weak Strong Strong
TUBB8
(HGNC:20773)
 Weak Moderate Strong Weak Weak Strong
CLN5
(HGNC:2076)
 Moderate Weak Moderate Strong Moderate Strong
ZFYVE26
(HGNC:20761)
 Weak Moderate Strong Strong Strong Strong
DIS3
(HGNC:20604)
 Weak Weak Strong Weak Weak Moderate
TPP1
(HGNC:2073)
 Strong Moderate Strong Strong Strong Strong
SCN3B
(HGNC:20665)
 Moderate Weak Moderate Strong Strong Strong
DHDDS
(HGNC:20603)
 Moderate Weak Weak Strong Weak Moderate
CYP2U1
(HGNC:20582)
 Strong Weak Weak Moderate Strong Strong
COQ6
(HGNC:20233)
 Moderate Weak Moderate Moderate Weak Moderate
L2HGDH
(HGNC:20499)
 Moderate Moderate Strong Strong Strong Strong
TMC8
(HGNC:20474)
 Moderate Moderate Weak Strong Weak Moderate
Showing 841–860 of 1365