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 |
|
CLCN2
(HGNC:2020)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
TRAF7
(HGNC:20456)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PADI6
(HGNC:20449)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
SPATA7
(HGNC:20423)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
|
|
MBD5
(HGNC:20444)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CLDN19
(HGNC:2040)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
POLR1D
(HGNC:20422)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
SUMF1
(HGNC:20376)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
CLDN14
(HGNC:2035)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SMOC1
(HGNC:20318)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC34A3
(HGNC:20305)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SCARF2
(HGNC:19869)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NUBPL
(HGNC:20278)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
B3GLCT
(HGNC:20207)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CACNA2D4
(HGNC:20202)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
POLR1C
(HGNC:20194)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
FLVCR2
(HGNC:20105)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SLC35C1
(HGNC:20197)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
HFM1
(HGNC:20193)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
KIAA0586
(HGNC:19960)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|