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
RIMS1
(HGNC:17282)
 Weak Weak Weak Moderate Moderate Weak
BCAP31
(HGNC:16695)
 Moderate Moderate Moderate Moderate Strong Moderate
CENPJ
(HGNC:17272)
 Strong Strong Moderate Strong Strong Strong
BICD2
(HGNC:17208)
 Moderate Moderate Moderate Strong Moderate Moderate
RRAS2
(HGNC:17271)
 Moderate Strong Moderate Weak Strong Strong
SLC39A4
(HGNC:17129)
 Strong Strong Moderate Strong Strong Strong
LARS2
(HGNC:17095)
 Strong Moderate Moderate Strong Strong Strong
CFHR3
(HGNC:16980)
 Strong Moderate Weak Moderate Moderate Strong
CDAN1
(HGNC:1713)
 Strong Strong Moderate Moderate Strong Strong
ADAMTS17
(HGNC:17109)
 Strong Strong Moderate Strong Strong Strong
SUZ12
(HGNC:17101)
 Strong Moderate Moderate Moderate Strong Strong
CDON
(HGNC:17104)
 Moderate Moderate Weak Moderate Moderate Moderate
TAB2
(HGNC:17075)
 Strong Moderate Moderate Moderate Strong Strong
CD3D
(HGNC:1673)
 Strong Strong Moderate Moderate Strong Strong
PUF60
(HGNC:17042)
 Strong Moderate Moderate Strong Strong Strong
NCSTN
(HGNC:17091)
 Strong Strong Moderate Strong Strong Strong
RAB39B
(HGNC:16499)
 Strong Moderate Moderate Strong Strong Strong
TRIOBP
(HGNC:17009)
 Strong Strong Moderate Strong Strong Strong
PRICKLE1
(HGNC:17019)
 Moderate Moderate Weak Weak Weak Moderate
KIF1B
(HGNC:16636)
 Moderate Weak Weak Weak Moderate Moderate
Showing 1661–1680 of 2035