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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
CNGB1
(HGNC:2151)
 Weak Weak Weak Weak Weak Moderate
CNGA1
(HGNC:2148)
 Moderate Moderate Strong Strong Moderate Strong
INPP5E
(HGNC:21474)
 Moderate Moderate Moderate Weak Strong Strong
RARS2
(HGNC:21406)
 Moderate Moderate Strong Moderate Strong Strong
ABHD5
(HGNC:21396)
 Weak Moderate Strong Strong Strong Strong
SBF2
(HGNC:2135)
 Weak Moderate Moderate Moderate Strong Moderate
DYM
(HGNC:21317)
 Moderate Moderate Strong Strong Strong Strong
ADPRS
(HGNC:21304)
 Weak Moderate Strong Moderate Strong Strong
DSG4
(HGNC:21307)
 Weak Moderate Strong Strong Strong Strong
PNPLA1
(HGNC:21246)
 Moderate Moderate Strong Moderate Strong Strong
RMND1
(HGNC:21176)
 Strong Moderate Strong Strong Strong Strong
KCTD11
(HGNC:21302)
 Weak Moderate Strong Strong Weak Strong
GTF2H5
(HGNC:21157)
 Moderate Moderate Strong Moderate Strong Strong
NUS1
(HGNC:21042)
 Moderate Weak Strong Moderate Weak Moderate
FARS2
(HGNC:21062)
 Weak Weak Strong Strong Strong Strong
ZBTB24
(HGNC:21143)
 Weak Moderate Strong Weak Strong Strong
QKI
(HGNC:21100)
 Weak Weak Weak Weak Weak Moderate
SERAC1
(HGNC:21061)
 Moderate Moderate Strong Strong Strong Strong
HACE1
(HGNC:21033)
 Moderate Moderate Strong Strong Strong Strong
CUL7
(HGNC:21024)
 Weak Moderate Strong Strong Strong Strong
Showing 821–840 of 1365