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 |
|
RASGRP1
(HGNC:9878)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
RASGRP2
(HGNC:9879)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
RARG
(HGNC:9866)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
RAC1
(HGNC:9801)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
RAB7A
(HGNC:9788)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
QARS1
(HGNC:9751)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PYCR1
(HGNC:9721)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PEX2
(HGNC:9717)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
BBS5
(HGNC:970)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PURA
(HGNC:9701)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CAVIN1
(HGNC:9688)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PTPRQ
(HGNC:9679)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
PTPRC
(HGNC:9666)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
PTPN1
(HGNC:9642)
|
Strong
|
Strong
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
PTK2
(HGNC:9611)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
PTHLH
(HGNC:9607)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
PTH
(HGNC:9606)
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PTGDS
(HGNC:9592)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PTDSS1
(HGNC:9587)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|