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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
CDH11
(HGNC:1750)
 Weak Weak Weak Strong Weak Weak
GJC2
(HGNC:17494)
 Weak Moderate Strong Strong Strong Moderate
ZFPM2
(HGNC:16700)
 Weak Weak Moderate Moderate Strong Moderate
TPK1
(HGNC:17358)
 Weak Moderate Weak Moderate Strong Strong
CDC42
(HGNC:1736)
 Strong Moderate Strong Weak Strong Moderate
CDK13
(HGNC:1733)
 Weak Moderate Strong Strong Moderate Moderate
PRPF8
(HGNC:17340)
 Weak Weak Moderate Weak Weak Moderate
WAC
(HGNC:17327)
 Moderate Moderate Moderate Strong Strong Strong
SP7
(HGNC:17321)
 Moderate Weak Strong Moderate Weak Weak
RRM2B
(HGNC:17296)
 Moderate Weak Moderate Strong Weak Moderate
RIMS1
(HGNC:17282)
 Moderate Weak Moderate Strong Moderate Weak
BCAP31
(HGNC:16695)
 Moderate Moderate Moderate Strong Strong Strong
CENPJ
(HGNC:17272)
 Moderate Moderate Strong Strong Strong Strong
BICD2
(HGNC:17208)
 Moderate Weak Moderate Strong Weak Moderate
RRAS2
(HGNC:17271)
 Weak Moderate Strong Moderate Strong Strong
SLC39A4
(HGNC:17129)
 Weak Strong Strong Strong Strong Strong
LARS2
(HGNC:17095)
 Moderate Weak Strong Strong Strong Strong
CFHR3
(HGNC:16980)
 Strong Moderate Strong Strong Moderate Strong
CDAN1
(HGNC:1713)
 Weak Moderate Strong Strong Strong Strong
ADAMTS17
(HGNC:17109)
 Moderate Moderate Strong Strong Strong Strong
Showing 981–1000 of 1365