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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
MICU1
(HGNC:1530)
 Moderate Moderate Strong Moderate Strong Strong
GPR101
(HGNC:14963)
 Weak Weak Strong Weak Weak Moderate
CASP10
(HGNC:1500)
 Weak Weak Weak Weak Weak Weak
POFUT1
(HGNC:14988)
 Moderate Weak Moderate Weak Weak Strong
CASK
(HGNC:1497)
 Moderate Moderate Strong Strong Strong Strong
SNX14
(HGNC:14977)
 Moderate Strong Strong Strong Strong Strong
GTPBP3
(HGNC:14880)
 Moderate Weak Strong Moderate Strong Strong
NIN
(HGNC:14906)
 Moderate Weak Strong Weak Strong Moderate
SNX10
(HGNC:14974)
 Moderate Moderate Strong Moderate Strong Strong
PIGT
(HGNC:14938)
 Moderate Moderate Strong Strong Strong Strong
DNAJB6
(HGNC:14888)
 Strong Moderate Strong Strong Strong Strong
COG5
(HGNC:14857)
 Moderate Moderate Moderate Strong Strong Strong
CAPN5
(HGNC:1482)
 Strong Moderate Strong Moderate Strong Strong
CAPN1
(HGNC:1476)
 Weak Moderate Strong Moderate Strong Strong
DEAF1
(HGNC:14677)
 Moderate Moderate Strong Strong Weak Strong
ADAMTSL2
(HGNC:14631)
 Moderate Moderate Strong Moderate Weak Moderate
PAPPA2
(HGNC:14615)
 Weak Moderate Weak Moderate Strong Strong
ACTG2
(HGNC:145)
 Moderate Moderate Weak Strong Moderate Strong
CAMK2B
(HGNC:1461)
 Moderate Moderate Strong Weak Strong Strong
WNK4
(HGNC:14544)
 Moderate Weak Moderate Weak Strong Strong
Showing 1081–1100 of 1365