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
|
|