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 |
|
SF3A1
(HGNC:10765)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
SET
(HGNC:10760)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
SEMA7A
(HGNC:10741)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
BMP6
(HGNC:1073)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SEMA6B
(HGNC:10739)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
SEMA5A
(HGNC:10736)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
BMP5
(HGNC:1072)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SEMA3E
(HGNC:10727)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
SELL
(HGNC:10720)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SEL1L
(HGNC:10717)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SEC23A
(HGNC:10701)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
CCL18
(HGNC:10616)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SCP2
(HGNC:10606)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
SCO1
(HGNC:10603)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
SCNN1G
(HGNC:10602)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SCN4B
(HGNC:10592)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SCN2B
(HGNC:10589)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
SCD
(HGNC:10571)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MSMO1
(HGNC:10545)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SATB1
(HGNC:10541)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|