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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
Showing 861–880 of 1365