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
LZTFL1
(HGNC:6741)
 Strong Strong Moderate Weak Strong Strong
LYN
(HGNC:6735)
 Weak Weak Weak Weak Weak Weak
LUM
(HGNC:6724)
 Strong Strong Moderate Weak Strong Moderate
LRAT
(HGNC:6685)
 Moderate Strong Moderate Strong Strong Strong
LORICRIN
(HGNC:6663)
 Moderate Strong Moderate Moderate Strong Moderate
LMNB2
(HGNC:6638)
 Moderate Moderate Moderate Strong Moderate Moderate
LIG3
(HGNC:6600)
 Moderate Moderate Moderate Weak Strong Strong
LIFR
(HGNC:6597)
 Strong Strong Moderate Strong Moderate Strong
LEF1
(HGNC:6551)
 Weak Weak Weak Weak Weak Weak
LDHA
(HGNC:6535)
 Strong Strong Weak Weak Strong Strong
LARS1
(HGNC:6512)
 Moderate Strong Moderate Weak Strong Strong
LAMB1
(HGNC:6486)
 Moderate Moderate Moderate Weak Strong Moderate
KRT3
(HGNC:6440)
 Strong Strong Moderate Moderate Strong Strong
KRT18
(HGNC:6430)
 Weak Weak Weak Weak Weak Weak
KRT1
(HGNC:6412)
 Strong Strong Moderate Strong Strong Strong
AQP2
(HGNC:634)
 Strong Strong Moderate Strong Strong Strong
KLF4
(HGNC:6348)
 Strong Strong Weak Weak Strong Strong
KIF5B
(HGNC:6324)
 Weak Weak Weak Weak Weak Weak
KIF2A
(HGNC:6318)
 Strong Strong Moderate Weak Strong Strong
KCNQ4
(HGNC:6298)
 Strong Strong Moderate Strong Moderate Strong
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