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
DHX37
(HGNC:17210)
 Strong Moderate Moderate Strong Moderate Moderate
MTCH1
(HGNC:17586)
 Moderate Moderate Moderate Strong Strong Strong
CDH2
(HGNC:1759)
 Moderate Moderate Moderate Moderate Moderate Moderate
KAT6B
(HGNC:17582)
 Strong Moderate Moderate Strong Strong Strong
UBR1
(HGNC:16808)
 Strong Strong Moderate Strong Strong Strong
CDC27
(HGNC:1728)
 Weak Moderate Weak Weak Weak Weak
RAB3GAP2
(HGNC:17168)
 Moderate Moderate Moderate Moderate Strong Moderate
ACTN2
(HGNC:164)
 Moderate Moderate Moderate Moderate Strong Moderate
CD79A
(HGNC:1698)
 Strong Strong Weak Weak Strong Strong
SPEN
(HGNC:17575)
 Weak Weak Weak Moderate Moderate Moderate
CDH11
(HGNC:1750)
 Moderate Moderate Moderate Moderate Moderate Moderate
GJC2
(HGNC:17494)
 Moderate Strong Moderate Strong Strong Strong
ZFPM2
(HGNC:16700)
 Moderate Moderate Moderate Moderate Strong Moderate
TPK1
(HGNC:17358)
 Moderate Strong Moderate Moderate Strong Strong
CDC42
(HGNC:1736)
 Strong Moderate Moderate Moderate Strong Strong
CDK13
(HGNC:1733)
 Strong Strong Moderate Moderate Moderate Moderate
PRPF8
(HGNC:17340)
 Moderate Weak Weak Moderate Weak Moderate
WAC
(HGNC:17327)
 Strong Strong Moderate Strong Strong Strong
SP7
(HGNC:17321)
 Strong Moderate Moderate Moderate Moderate Strong
RRM2B
(HGNC:17296)
 Strong Strong Moderate Strong Strong Strong
Showing 1641–1660 of 2035