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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
MCPH1
(HGNC:6954)
 Weak Moderate Moderate Strong Strong Strong
MEIS1
(HGNC:7000)
 Moderate Weak Strong Weak Weak Moderate
MCM4
(HGNC:6947)
 Weak Weak Weak Moderate Weak Weak
MCL1
(HGNC:6943)
 Moderate Weak Weak Weak Weak Strong
MCCC2
(HGNC:6937)
 Weak Weak Weak Strong Strong Strong
CHST6
(HGNC:6938)
 Weak Moderate Moderate Strong Weak Moderate
MCCC1
(HGNC:6936)
 Weak Weak Weak Moderate Strong Strong
MBD4
(HGNC:6919)
 Weak Weak Weak Weak Strong Strong
MAT1A
(HGNC:6903)
 Moderate Moderate Weak Strong Weak Moderate
MATR3
(HGNC:6912)
 Weak Weak Moderate Weak Strong Moderate
MATN3
(HGNC:6909)
 Moderate Moderate Strong Moderate Weak Strong
MASP1
(HGNC:6901)
 Weak Moderate Strong Weak Strong Strong
ABCD4
(HGNC:68)
 Moderate Moderate Strong Moderate Strong Strong
MARS1
(HGNC:6898)
 Weak Weak Weak Strong Weak Strong
MAN2B1
(HGNC:6826)
 Weak Moderate Moderate Strong Strong Strong
MAPRE3
(HGNC:6892)
 Weak Moderate Weak Weak Weak Weak
MAP3K7
(HGNC:6859)
 Weak Weak Strong Moderate Strong Moderate
MANBA
(HGNC:6831)
 Moderate Moderate Strong Moderate Strong Strong
MAN1B1
(HGNC:6823)
 Moderate Moderate Strong Strong Strong Strong
MALT1
(HGNC:6819)
 Weak Moderate Strong Strong Moderate Strong
Showing 201–220 of 1365