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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
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
Showing 1–20 of 1365