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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
PRUNE1
(HGNC:13420)
 Moderate Moderate Strong Strong Strong Strong
PCLO
(HGNC:13406)
 Weak Weak Moderate Strong Weak Moderate
LPIN1
(HGNC:13345)
 Weak Moderate Strong Strong Moderate Strong
AICDA
(HGNC:13203)
 Moderate Weak Moderate Strong Weak Strong
ADAMTS10
(HGNC:13201)
 Moderate Strong Strong Moderate Strong Strong
CNBP
(HGNC:13164)
 Strong Moderate Moderate Strong Strong Strong
ZP1
(HGNC:13187)
 Moderate Strong Weak Strong Weak Strong
SCAPER
(HGNC:13081)
 Moderate Moderate Strong Strong Strong Strong
ZBTB18
(HGNC:13030)
 Moderate Moderate Moderate Moderate Strong Strong
ZMYM2
(HGNC:12989)
 Weak Weak Weak Weak Weak Weak
XDH
(HGNC:12805)
 Moderate Strong Moderate Strong Strong Strong
YARS1
(HGNC:12840)
 Weak Weak Moderate Weak Weak Moderate
CCN6
(HGNC:12771)
 Weak Strong Strong Strong Strong Strong
ZBTB16
(HGNC:12930)
 Strong Moderate Weak Weak Strong Strong
WNT7A
(HGNC:12786)
 Moderate Moderate Moderate Strong Weak Strong
WARS2
(HGNC:12730)
 Strong Weak Strong Weak Strong Strong
C1S
(HGNC:1247)
 Moderate Weak Moderate Strong Weak Moderate
TTPA
(HGNC:12404)
 Moderate Moderate Strong Strong Strong Strong
TSHB
(HGNC:12372)
 Moderate Strong Strong Strong Strong Strong
ZMPSTE24
(HGNC:12877)
 Weak Weak Strong Strong Strong Strong
Showing 1161–1180 of 1365