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 |
|
SARS1
(HGNC:10537)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
SAR1B
(HGNC:10535)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SAA1
(HGNC:10513)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
S100A4
(HGNC:10494)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RXRG
(HGNC:10479)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|
|
BGN
(HGNC:1044)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
BFSP2
(HGNC:1041)
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
RPS26
(HGNC:10414)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
RPS20
(HGNC:10405)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CNNM2
(HGNC:103)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
RPS17
(HGNC:10397)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
RPL4
(HGNC:10353)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RPL26
(HGNC:10327)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
RPL23A
(HGNC:10317)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RPL22
(HGNC:10315)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RPL17
(HGNC:10307)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RPL11
(HGNC:10301)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
RPL10
(HGNC:10298)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
RPIA
(HGNC:10297)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
BDH1
(HGNC:1027)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|