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
AP1B1
(HGNC:554)
 Strong Strong Weak Moderate Strong Strong
IDH3A
(HGNC:5384)
 Strong Moderate Moderate Weak Strong Moderate
ID3
(HGNC:5362)
 Weak Weak Weak Weak Weak Weak
TNC
(HGNC:5318)
 Strong Strong Moderate Weak Strong Moderate
HS6ST1
(HGNC:5201)
 Weak Moderate Weak Weak Moderate Moderate
HPGD
(HGNC:5154)
 Strong Strong Moderate Strong Strong Strong
HNRNPH2
(HGNC:5042)
 Strong Moderate Moderate Weak Strong Strong
HNRNPH1
(HGNC:5041)
 Strong Strong Moderate Weak Moderate Moderate
HNRNPDL
(HGNC:5037)
 Strong Strong Moderate Moderate Strong Strong
HNRNPA1
(HGNC:5031)
 Moderate Moderate Moderate Weak Strong Moderate
HLF
(HGNC:4977)
 Weak Weak Weak Weak Weak Weak
HIRA
(HGNC:4916)
 Weak Weak Weak Weak Moderate Moderate
HEY1
(HGNC:4880)
 Weak Weak Weak Weak Moderate Weak
HERC1
(HGNC:4867)
 Moderate Strong Moderate Strong Strong Moderate
ANGPT2
(HGNC:485)
 Weak Strong Moderate Weak Strong Strong
HCFC1
(HGNC:4839)
 Moderate Moderate Moderate Weak Strong Moderate
HBQ1
(HGNC:4833)
 Moderate Strong Moderate Strong Moderate Moderate
ABCB6
(HGNC:47)
 Moderate Weak Moderate Moderate Weak Moderate
H3C3
(HGNC:4768)
 Weak Weak Weak Weak Weak Weak
H3-3B
(HGNC:4765)
 Weak Weak Weak Weak Weak Weak
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