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
ACAD9
(HGNC:21497)
 Strong Moderate Moderate Weak Strong Strong
KIF12
(HGNC:21495)
 Moderate Strong Moderate Weak Strong Moderate
DNAAF4
(HGNC:21493)
 Moderate Moderate Weak Weak Strong Strong
TBC1D32
(HGNC:21485)
 Moderate Moderate Moderate Strong Strong Strong
CROCC
(HGNC:21299)
 Weak Weak Weak Weak Weak Weak
ADCY10
(HGNC:21285)
 Strong Moderate Moderate Moderate Moderate Strong
NLRP5
(HGNC:21269)
 Strong Strong Moderate Moderate Strong Strong
AARS2
(HGNC:21022)
 Strong Moderate Moderate Strong Strong Strong
ADGRL3
(HGNC:20974)
 Moderate Moderate Weak Weak Moderate Weak
CLTCL1
(HGNC:2093)
 Weak Weak Weak Weak Weak Weak
TPCN2
(HGNC:20820)
 Moderate Moderate Weak Weak Moderate Moderate
TUBB4B
(HGNC:20771)
 Strong Strong Moderate Strong Strong Strong
ZFYVE19
(HGNC:20758)
 Strong Strong Moderate Moderate Strong Strong
OTUD7A
(HGNC:20718)
 Moderate Moderate Moderate Moderate Moderate Moderate
TWIST2
(HGNC:20670)
 Moderate Strong Moderate Moderate Moderate Moderate
CYP26B1
(HGNC:20581)
 Moderate Moderate Weak Moderate Strong Moderate
SMC5
(HGNC:20465)
 Moderate Moderate Weak Weak Strong Strong
CLDN16
(HGNC:2037)
 Strong Strong Moderate Strong Strong Strong
NDUFB11
(HGNC:20372)
 Moderate Moderate Weak Weak Strong Moderate
CHAMP1
(HGNC:20311)
 Moderate Moderate Weak Weak Strong Moderate
Showing 341–360 of 2035