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 |
|
MST1R
(HGNC:7381)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
ASAH1
(HGNC:735)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MSH5
(HGNC:7328)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
MSH4
(HGNC:7327)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MS4A1
(HGNC:7315)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
MRAS
(HGNC:7227)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MN1
(HGNC:7180)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MLLT3
(HGNC:7136)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ARR3
(HGNC:710)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
ARPC1B
(HGNC:704)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MEF2A
(HGNC:6993)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MDH2
(HGNC:6971)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
ARL3
(HGNC:694)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MCC
(HGNC:6935)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
MAPK3
(HGNC:6877)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MAP3K3
(HGNC:6855)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MAP1B
(HGNC:6836)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ABCD3
(HGNC:67)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
MADD
(HGNC:6766)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
MAD1L1
(HGNC:6762)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Strong
|
|