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 |
|
OPN1LW
(HGNC:9936)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
RDH5
(HGNC:9940)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RFXANK
(HGNC:9987)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RBM10
(HGNC:9896)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
RFX5
(HGNC:9986)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
RBP4
(HGNC:9922)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
RELA
(HGNC:9955)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
RBL2
(HGNC:9894)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
RBM8A
(HGNC:9905)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
RBBP8
(HGNC:9891)
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
RANBP2
(HGNC:9848)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
RASGRP1
(HGNC:9878)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
RASGRP2
(HGNC:9879)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RARG
(HGNC:9866)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Weak
|
|
|
RAC1
(HGNC:9801)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
RAB7A
(HGNC:9788)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
QARS1
(HGNC:9751)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PYCR1
(HGNC:9721)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PEX2
(HGNC:9717)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
BBS5
(HGNC:970)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|