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
WNT10B
(HGNC:12775)
 Strong Strong Moderate Strong Strong Strong
WNT5A
(HGNC:12784)
 Moderate Strong Moderate Weak Moderate Moderate
VPS33B
(HGNC:12712)
 Strong Strong Moderate Strong Strong Strong
VAPB
(HGNC:12649)
 Strong Strong Moderate Strong Strong Moderate
VRK1
(HGNC:12718)
 Strong Moderate Moderate Strong Strong Strong
NSD3
(HGNC:12767)
 Weak Weak Weak Weak Weak Weak
VLDLR
(HGNC:12698)
 Strong Moderate Moderate Strong Strong Strong
USP9X
(HGNC:12632)
 Strong Moderate Weak Strong Strong Moderate
USP6
(HGNC:12629)
 Weak Weak Weak Weak Weak Weak
UBE2A
(HGNC:12472)
 Strong Strong Moderate Moderate Strong Strong
EZR
(HGNC:12691)
 Moderate Weak Moderate Moderate Moderate Moderate
VEGFC
(HGNC:12682)
 Strong Strong Moderate Weak Moderate Strong
VARS1
(HGNC:12651)
 Moderate Strong Moderate Weak Strong Moderate
ACOX1
(HGNC:119)
 Strong Moderate Moderate Strong Moderate Strong
USP8
(HGNC:12631)
 Strong Moderate Moderate Strong Weak Strong
C1QC
(HGNC:1245)
 Strong Strong Moderate Moderate Strong Strong
KLF11
(HGNC:11811)
 Moderate Strong Weak Moderate Strong Moderate
C1R
(HGNC:1246)
 Moderate Strong Moderate Strong Moderate Moderate
CFAP410
(HGNC:1260)
 Strong Moderate Moderate Strong Moderate Strong
CLRN1
(HGNC:12605)
 Moderate Moderate Moderate Strong Moderate Strong
Showing 1861–1880 of 2035