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
|
|