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
DNAJB6
(HGNC:14888)
 Strong Strong Moderate Strong Strong Strong
COG5
(HGNC:14857)
 Moderate Moderate Moderate Strong Moderate Strong
CAPN5
(HGNC:1482)
 Strong Strong Moderate Moderate Strong Strong
CAPN1
(HGNC:1476)
 Strong Moderate Moderate Strong Strong Strong
DEAF1
(HGNC:14677)
 Strong Strong Moderate Strong Moderate Strong
ADAMTSL2
(HGNC:14631)
 Moderate Moderate Moderate Strong Moderate Moderate
PAPPA2
(HGNC:14615)
 Weak Moderate Moderate Moderate Moderate Moderate
ACTG2
(HGNC:145)
 Strong Strong Moderate Weak Moderate Strong
CAMK2B
(HGNC:1461)
 Moderate Strong Moderate Weak Strong Moderate
WNK4
(HGNC:14544)
 Strong Strong Moderate Moderate Strong Strong
VPS16
(HGNC:14584)
 Strong Moderate Moderate Strong Moderate Strong
CDHR1
(HGNC:14550)
 Strong Strong Moderate Strong Moderate Strong
VPS45
(HGNC:14579)
 Strong Strong Moderate Moderate Strong Strong
BAALC
(HGNC:14333)
 Weak Weak Weak Weak Weak Weak
CALM1
(HGNC:1442)
 Strong Moderate Moderate Moderate Strong Strong
CALM3
(HGNC:1449)
 Moderate Moderate Moderate Weak Strong Moderate
CALM2
(HGNC:1445)
 Strong Moderate Moderate Moderate Strong Strong
LPIN2
(HGNC:14450)
 Strong Strong Moderate Strong Strong Strong
CRIPT
(HGNC:14312)
 Weak Moderate Strong Weak Strong Strong
ELOVL4
(HGNC:14415)
 Moderate Moderate Moderate Strong Strong Moderate
Showing 1761–1780 of 2035