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 |
|
SFTPA1
(HGNC:10798)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
SF3B4
(HGNC:10771)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SGCD
(HGNC:10807)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
BMPR1B
(HGNC:1077)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SEC23B
(HGNC:10702)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
SEMA3A
(HGNC:10723)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
SEC24D
(HGNC:10706)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
BMP15
(HGNC:1068)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
BMP1
(HGNC:1067)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CWC27
(HGNC:10664)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SDCCAG8
(HGNC:10671)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CNNM4
(HGNC:105)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SCO2
(HGNC:10604)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SCN11A
(HGNC:10583)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SCNN1A
(HGNC:10599)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RPS7
(HGNC:10440)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
RPS6KA3
(HGNC:10432)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SBF1
(HGNC:10542)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SCN3A
(HGNC:10590)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
ROBO1
(HGNC:10249)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|