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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
MAGEL2
(HGNC:6814)
 Strong Moderate Weak Strong Strong Strong
MAG
(HGNC:6783)
 Moderate Weak Strong Strong Strong Strong
MAF
(HGNC:6776)
 Moderate Moderate Moderate Strong Strong Moderate
ARHGAP4
(HGNC:674)
 Weak Weak Moderate Moderate Strong Moderate
CAPRIN1
(HGNC:6743)
 Weak Weak Moderate Weak Moderate Weak
LYZ
(HGNC:6740)
 Moderate Weak Moderate Strong Strong Strong
LSS
(HGNC:6708)
 Moderate Weak Strong Strong Strong Strong
LTBP4
(HGNC:6717)
 Moderate Moderate Strong Strong Strong Strong
LRP4
(HGNC:6696)
 Moderate Weak Strong Strong Strong Moderate
LRPAP1
(HGNC:6701)
 Weak Moderate Weak Weak Strong Strong
LNX1
(HGNC:6657)
 Weak Moderate Moderate Moderate Strong Strong
LMX1A
(HGNC:6653)
 Weak Weak Moderate Moderate Weak Moderate
KERA
(HGNC:6309)
 Moderate Weak Moderate Strong Weak Strong
LMNB1
(HGNC:6637)
 Strong Moderate Strong Strong Strong Strong
LMOD2
(HGNC:6648)
 Moderate Strong Moderate Weak Strong Strong
LMOD3
(HGNC:6649)
 Strong Weak Weak Moderate Weak Moderate
LLGL1
(HGNC:6628)
 Weak Weak Weak Strong Moderate Weak
LIPE
(HGNC:6621)
 Moderate Weak Moderate Strong Moderate Strong
LMAN1
(HGNC:6631)
 Weak Strong Strong Strong Strong Strong
LIM2
(HGNC:6610)
 Moderate Moderate Strong Strong Weak Moderate
Showing 221–240 of 1365