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 |
|
MYO5B
(HGNC:7603)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
MYO5A
(HGNC:7602)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
MYO3A
(HGNC:7601)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
MYO1E
(HGNC:7599)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
MYH3
(HGNC:7573)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ASPH
(HGNC:757)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MYCL
(HGNC:7555)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TRIM37
(HGNC:7523)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MYBPC1
(HGNC:7549)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
ASL
(HGNC:746)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
MTMR2
(HGNC:7450)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MSX2
(HGNC:7392)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
MSN
(HGNC:7373)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MRC1
(HGNC:7228)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
SEPTIN9
(HGNC:7323)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
MPI
(HGNC:7216)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
MPP3
(HGNC:7221)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ARSL
(HGNC:719)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MOCS2
(HGNC:7193)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MOCS1
(HGNC:7190)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|