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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
AUTS2
(HGNC:14262)
 Weak Weak Strong Weak Strong Strong
ANO3
(HGNC:14004)
 Moderate Moderate Moderate Strong Strong Moderate
BRPF1
(HGNC:14255)
 Moderate Strong Strong Moderate Strong Strong
JPH3
(HGNC:14203)
 Strong Moderate Weak Moderate Strong Strong
NPRL3
(HGNC:14124)
 Weak Moderate Weak Strong Strong Strong
HDAC4
(HGNC:14063)
 Moderate Weak Strong Strong Strong Strong
PRDM13
(HGNC:13998)
 Moderate Weak Strong Strong Strong Strong
CACNB2
(HGNC:1402)
 Weak Weak Moderate Moderate Moderate Weak
SERPINB7
(HGNC:13902)
 Strong Moderate Moderate Moderate Strong Strong
PRDM12
(HGNC:13997)
 Weak Moderate Strong Strong Strong Strong
TRPV6
(HGNC:14006)
 Moderate Weak Moderate Strong Weak Strong
SLC5A7
(HGNC:14025)
 Weak Moderate Strong Strong Weak Strong
MPIG6B
(HGNC:13937)
 Moderate Moderate Strong Moderate Strong Strong
PRDM16
(HGNC:14000)
 Weak Weak Strong Weak Moderate Moderate
CABP4
(HGNC:1386)
 Moderate Weak Weak Strong Weak Moderate
SLC12A5
(HGNC:13818)
 Moderate Weak Moderate Moderate Weak Moderate
ITCH
(HGNC:13890)
 Moderate Weak Strong Moderate Moderate Strong
GFM1
(HGNC:13780)
 Moderate Moderate Strong Strong Strong Strong
ASPSCR1
(HGNC:13825)
 Strong Moderate Moderate Weak Weak Strong
CA8
(HGNC:1382)
 Weak Weak Strong Strong Moderate Moderate
Showing 1121–1140 of 1365