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
LMX1A
(HGNC:6653)
Moderate Moderate Moderate Strong Moderate Moderate
KERA
(HGNC:6309)
Strong Moderate Strong Strong Moderate Moderate
LMNB1
(HGNC:6637)
Strong Strong Moderate Strong Strong Strong
LMOD2
(HGNC:6648)
Strong Strong Moderate Weak Strong Strong
LMOD3
(HGNC:6649)
Moderate Moderate Moderate Moderate Moderate Moderate
LLGL1
(HGNC:6628)
Weak Weak Weak Strong Weak Weak
LIPE
(HGNC:6621)
Strong Strong Moderate Moderate Strong Strong
LMAN1
(HGNC:6631)
Strong Strong Moderate Strong Strong Strong
LIM2
(HGNC:6610)
Strong Strong Moderate Strong Moderate Moderate
LIMK1
(HGNC:6613)
Moderate Weak Moderate Weak Moderate Weak
LHX3
(HGNC:6595)
Moderate Strong Moderate Moderate Strong Strong
LIG1
(HGNC:6598)
Moderate Moderate Weak Weak Moderate Moderate
LHX1
(HGNC:6593)
Moderate Weak Weak Weak Moderate Moderate
LHB
(HGNC:6584)
Moderate Moderate Weak Moderate Strong Strong
LFNG
(HGNC:6560)
Strong Strong Moderate Moderate Strong Strong
LCN1
(HGNC:6525)
Weak Weak Weak Weak Weak Weak
LCT
(HGNC:6530)
Moderate Moderate Moderate Moderate Strong Strong
LETM1
(HGNC:6556)
Moderate Weak Moderate Moderate Moderate Moderate
LCK
(HGNC:6524)
Moderate Moderate Moderate Weak Strong Strong
LBR
(HGNC:6518)
Strong Strong Moderate Moderate Strong Strong
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