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
Showing 841–860 of 2035