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
Showing 621–640 of 2035