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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
NEUROG3
(HGNC:13806)
 Moderate Moderate Strong Weak Strong Strong
CYFIP1
(HGNC:13759)
 Weak Weak Moderate Moderate Weak Weak
ALOXE3
(HGNC:13743)
 Weak Moderate Strong Moderate Strong Strong
SOST
(HGNC:13771)
 Moderate Weak Weak Strong Weak Moderate
KLF13
(HGNC:13672)
 Weak Weak Moderate Weak Weak Moderate
CA2
(HGNC:1373)
 Moderate Strong Strong Strong Strong Strong
CTCF
(HGNC:13723)
 Weak Weak Moderate Strong Strong Moderate
FBXL4
(HGNC:13601)
 Weak Moderate Strong Strong Strong Strong
ZBTB20
(HGNC:13503)
 Moderate Strong Strong Strong Strong Strong
BRD4
(HGNC:13575)
 Moderate Weak Strong Strong Weak Moderate
FBXO11
(HGNC:13590)
 Weak Weak Strong Weak Moderate Moderate
IFT122
(HGNC:13556)
 Weak Weak Strong Moderate Strong Strong
ATP8A2
(HGNC:13533)
 Moderate Moderate Strong Strong Strong Strong
C7
(HGNC:1346)
 Moderate Moderate Weak Strong Strong Strong
MCOLN1
(HGNC:13356)
 Weak Moderate Strong Strong Strong Strong
SLC2A10
(HGNC:13444)
 Strong Moderate Strong Strong Strong Strong
ARL6
(HGNC:13210)
 Weak Weak Strong Strong Strong Moderate
ROBO3
(HGNC:13433)
 Weak Moderate Strong Weak Strong Strong
ACTB
(HGNC:132)
 Moderate Moderate Strong Moderate Strong Moderate
NSDHL
(HGNC:13398)
 Weak Weak Moderate Strong Moderate Strong
Showing 1141–1160 of 1365