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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
EZR
(HGNC:12691)
 Weak Weak Weak Strong Weak Weak
VEGFC
(HGNC:12682)
 Weak Moderate Strong Weak Weak Moderate
VARS1
(HGNC:12651)
 Weak Moderate Strong Moderate Strong Strong
ACOX1
(HGNC:119)
 Moderate Weak Strong Strong Weak Strong
USP8
(HGNC:12631)
 Strong Moderate Moderate Strong Weak Strong
C1QC
(HGNC:1245)
 Strong Moderate Strong Moderate Strong Strong
KLF11
(HGNC:11811)
 Weak Moderate Weak Moderate Strong Moderate
C1R
(HGNC:1246)
 Weak Weak Moderate Moderate Weak Weak
CFAP410
(HGNC:1260)
 Weak Weak Moderate Strong Strong Moderate
CLRN1
(HGNC:12605)
 Weak Weak Moderate Strong Strong Strong
UROS
(HGNC:12592)
 Moderate Moderate Weak Strong Strong Strong
UROD
(HGNC:12591)
 Moderate Weak Moderate Moderate Strong Strong
UGDH
(HGNC:12525)
 Moderate Moderate Moderate Strong Strong Strong
UBTF
(HGNC:12511)
 Moderate Moderate Strong Weak Moderate Moderate
UBQLN2
(HGNC:12509)
 Moderate Weak Moderate Strong Strong Strong
ACP5
(HGNC:124)
 Moderate Moderate Strong Strong Strong Strong
TNNT3
(HGNC:11950)
 Moderate Weak Strong Strong Weak Moderate
C1QA
(HGNC:1241)
 Moderate Moderate Weak Strong Strong Strong
TUBB2A
(HGNC:12412)
 Moderate Moderate Strong Weak Strong Moderate
TUFM
(HGNC:12420)
 Moderate Weak Strong Moderate Moderate Strong
Showing 1201–1220 of 1365