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 |
|
VPS16
(HGNC:14584)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
CDHR1
(HGNC:14550)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
VPS45
(HGNC:14579)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
BAALC
(HGNC:14333)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
CALM1
(HGNC:1442)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CALM3
(HGNC:1449)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CALM2
(HGNC:1445)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
LPIN2
(HGNC:14450)
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
CRIPT
(HGNC:14312)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
SLC25A19
(HGNC:14409)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GP6
(HGNC:14388)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
GLMN
(HGNC:14373)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
EDARADD
(HGNC:14341)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
SCYL1
(HGNC:14372)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SHANK2
(HGNC:14295)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
CRLF2
(HGNC:14281)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NLGN4X
(HGNC:14287)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
IRF2BPL
(HGNC:14282)
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC25A20
(HGNC:1421)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|