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
USH1G
(HGNC:16356)
 Moderate Moderate Moderate Strong Moderate Moderate
RSPO4
(HGNC:16175)
 Strong Strong Moderate Strong Strong Strong
UPB1
(HGNC:16297)
 Moderate Moderate Weak Strong Strong Moderate
NFU1
(HGNC:16287)
 Strong Strong Moderate Strong Strong Strong
PNPLA6
(HGNC:16268)
 Moderate Weak Strong Strong Strong Strong
MAML3
(HGNC:16272)
 Weak Weak Weak Weak Weak Weak
YAP1
(HGNC:16262)
 Moderate Moderate Moderate Weak Strong Moderate
MAML2
(HGNC:16259)
 Weak Weak Weak Weak Weak Weak
TUBB1
(HGNC:16257)
 Moderate Moderate Moderate Moderate Moderate Moderate
MLLT10
(HGNC:16063)
 Weak Weak Weak Weak Weak Weak
MCM8
(HGNC:16147)
 Strong Moderate Moderate Strong Strong Strong
DNAJC5
(HGNC:16235)
 Strong Moderate Strong Moderate Strong Strong
SLC52A3
(HGNC:16187)
 Moderate Moderate Strong Strong Strong Strong
CADPS2
(HGNC:16018)
 Moderate Moderate Weak Weak Moderate Moderate
MPLKIP
(HGNC:16002)
 Strong Strong Moderate Strong Strong Strong
STRC
(HGNC:16035)
 Moderate Moderate Strong Strong Strong Strong
APTX
(HGNC:15984)
 Strong Strong Moderate Strong Strong Strong
RP1L1
(HGNC:15946)
 Strong Moderate Moderate Strong Moderate Moderate
SELENON
(HGNC:15999)
 Strong Strong Moderate Moderate Strong Strong
TOE1
(HGNC:15954)
 Strong Strong Moderate Moderate Strong Strong
Showing 1701–1720 of 2035