Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| 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
|
|